Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	538
Gene name	ATPase copper transporting alpha
Gene symbol	ATP7A
Synonyms (NCBI Gene)	DSMAXHMNXMKMNKSMAX3
Chromosome	X
Chromosome location	Xq21.1
Summary	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalize

131

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SNP ID	Visualize variation	Clinical significance	Consequence
rs67273048	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554636	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554638	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, intron variant, synonymous variant
rs72554639	G>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs72554640	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554644	G>A,T	Pathogenic	Coding sequence variant, stop gained, intron variant, missense variant
rs72554645	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554649	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554650	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554652	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs138958687	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs139781067	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs143214563	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs143907597	A>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, missense variant, coding sequence variant
rs146651049	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs146692150	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs150526992	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs151340631	C>G,T	Pathogenic	Intron variant, missense variant, stop gained, coding sequence variant
rs151340632	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs151340633	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs181435872	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs267606672	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267606673	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant
rs367775730	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs368622356	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs370736173	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs372489000	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs372898963	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs398123133	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398123135	G>T	Pathogenic	Splice acceptor variant
rs782196306	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs782260332	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs782619990	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs794729231	G>A,C	Pathogenic	Intron variant, splice acceptor variant
rs797045325	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045327	->GGGGC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045329	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045330	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045331	G>A	Pathogenic	Intron variant, splice acceptor variant
rs797045332	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045333	TA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045334	T>A	Uncertain-significance, pathogenic	Intron variant
rs797045336	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045337	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045338	G>C	Pathogenic	Intron variant, splice acceptor variant
rs797045339	T>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045340	G>C	Pathogenic	Intron variant, splice donor variant
rs797045341	G>A	Pathogenic	Intron variant
rs797045342	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045343	->TTCTGTATTCCTGTAATGGGGCTGATGATAT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045344	G>A,C	Likely-pathogenic, pathogenic	Intron variant, missense variant, coding sequence variant
rs797045346	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045347	G>C	Pathogenic	Intron variant
rs797045348	G>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045349	A>G	Pathogenic	Intron variant, splice acceptor variant
rs797045350	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045351	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045352	->ATTG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045353	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045354	T>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs797045355	CATATAGCAAA>AGCATC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045356	AGG>T	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs797045357	T>A	Pathogenic	Intron variant, splice donor variant
rs797045358	->GTGAAGA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs797045359	G>A	Pathogenic	Intron variant, splice acceptor variant
rs797045360	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs797045361	->C	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045362	T>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045363	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045364	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs797045365	C>T	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045366	CATACTAATAAAAGG>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs797045367	G>A	Pathogenic	Splice acceptor variant
rs797045368	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045369	TTTGA>AGTACAGG	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs797045370	T>C,G	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs797045372	T>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045373	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045374	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs797045375	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045376	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045377	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045378	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045379	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045380	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045382	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045383	T>ATGACTGG	Pathogenic	Stop gained, inframe indel, non coding transcript variant, coding sequence variant
rs797045384	AA>TTAC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045385	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045386	G>T	Pathogenic	Splice donor variant
rs797045387	A>G,T	Likely-pathogenic	Intron variant
rs797045388	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045389	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045390	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045391	G>T	Pathogenic	Splice donor variant
rs797045392	TCT>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs797045393	G>A	Pathogenic	Splice donor variant
rs797045394	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045395	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045396	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045397	AG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045398	G>A	Pathogenic	Intron variant
rs797045399	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045400	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs879253938	TAAG>-	Pathogenic	Intron variant, splice donor variant
rs886044769	->GTTT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs886044881	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064796648	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1287511385	A>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs1557236729	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557236754	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1557236762	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1557237050	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557237451	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557238569	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557238588	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557238590	CTCCCCA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557238665	G>A	Likely-pathogenic	Splice acceptor variant
rs1569549376	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569549587	CAATCAGA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569549695	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569549699	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569549753	G>A	Pathogenic	Splice donor variant, intron variant
rs1569549974	G>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569550143	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1569550376	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381331	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603387278	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603389393	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603391120	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603391127	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018615	hsa-miR-335-5p	Microarray	18185580
MIRT019495	hsa-miR-148b-3p	Microarray	17612493
MIRT021461	hsa-miR-9-5p	Microarray	17612493
MIRT023385	hsa-miR-122-5p	Microarray	17612493
MIRT044676	hsa-miR-320a	CLASH	23622248
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT176136	hsa-miR-4517	HITS-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551179	hsa-miR-4501	HITS-CLIP	21572407
MIRT551178	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551177	hsa-miR-567	HITS-CLIP	21572407
MIRT551176	hsa-miR-1257	HITS-CLIP	21572407
MIRT551175	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551172	hsa-miR-3924	HITS-CLIP	21572407
MIRT551171	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT551170	hsa-miR-297	HITS-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT054368	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT176144	hsa-miR-5688	HITS-CLIP	23824327
MIRT646864	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT646863	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT176138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT646862	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT176136	hsa-miR-4517	PAR-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551180	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT551179	hsa-miR-4501	PAR-CLIP	21572407
MIRT551178	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551177	hsa-miR-567	PAR-CLIP	21572407
MIRT551176	hsa-miR-1257	PAR-CLIP	21572407
MIRT551175	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551172	hsa-miR-3924	PAR-CLIP	21572407
MIRT551171	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT551170	hsa-miR-297	PAR-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT176120	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT176126	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT176119	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT733965	hsa-miR-139-5p	Luciferase reporter assayqRT-PCRWestern blotting	31839712
MIRT176136	hsa-miR-4517	HITS-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551179	hsa-miR-4501	HITS-CLIP	21572407
MIRT551178	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551177	hsa-miR-567	HITS-CLIP	21572407
MIRT551176	hsa-miR-1257	HITS-CLIP	21572407
MIRT551175	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551172	hsa-miR-3924	HITS-CLIP	21572407
MIRT551171	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT551170	hsa-miR-297	HITS-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT054368	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT176144	hsa-miR-5688	HITS-CLIP	23824327
MIRT646864	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT646863	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT176138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT646862	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT176136	hsa-miR-4517	PAR-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551180	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT551179	hsa-miR-4501	PAR-CLIP	21572407
MIRT551178	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551177	hsa-miR-567	PAR-CLIP	21572407
MIRT551176	hsa-miR-1257	PAR-CLIP	21572407
MIRT551175	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551172	hsa-miR-3924	PAR-CLIP	21572407
MIRT551171	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT551170	hsa-miR-297	PAR-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT809520	hsa-miR-1207-5p	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT809522	hsa-miR-1252	CLIP-seq
MIRT809523	hsa-miR-1293	CLIP-seq
MIRT809524	hsa-miR-15a	CLIP-seq
MIRT809525	hsa-miR-15b	CLIP-seq
MIRT809526	hsa-miR-16	CLIP-seq
MIRT809527	hsa-miR-1827	CLIP-seq
MIRT809528	hsa-miR-195	CLIP-seq
MIRT809529	hsa-miR-203	CLIP-seq
MIRT809530	hsa-miR-214	CLIP-seq
MIRT809531	hsa-miR-2467-5p	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT809533	hsa-miR-3145-3p	CLIP-seq
MIRT809534	hsa-miR-3147	CLIP-seq
MIRT809535	hsa-miR-3152-5p	CLIP-seq
MIRT809536	hsa-miR-3173-3p	CLIP-seq
MIRT809537	hsa-miR-3185	CLIP-seq
MIRT809538	hsa-miR-342-3p	CLIP-seq
MIRT809539	hsa-miR-34b	CLIP-seq
MIRT809540	hsa-miR-3545-3p	CLIP-seq
MIRT809541	hsa-miR-3612	CLIP-seq
MIRT809542	hsa-miR-3619-5p	CLIP-seq
MIRT809543	hsa-miR-3622b-5p	CLIP-seq
MIRT809544	hsa-miR-3647-3p	CLIP-seq
MIRT809545	hsa-miR-3663-3p	CLIP-seq
MIRT809546	hsa-miR-3664-3p	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT809550	hsa-miR-3929	CLIP-seq
MIRT809551	hsa-miR-3940-5p	CLIP-seq
MIRT809552	hsa-miR-3945	CLIP-seq
MIRT809553	hsa-miR-424	CLIP-seq
MIRT809554	hsa-miR-4253	CLIP-seq
MIRT809555	hsa-miR-4269	CLIP-seq
MIRT809556	hsa-miR-4270	CLIP-seq
MIRT809557	hsa-miR-4276	CLIP-seq
MIRT809558	hsa-miR-4284	CLIP-seq
MIRT809559	hsa-miR-4291	CLIP-seq
MIRT809560	hsa-miR-4419a	CLIP-seq
MIRT809561	hsa-miR-4419b	CLIP-seq
MIRT809562	hsa-miR-4425	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809564	hsa-miR-4433	CLIP-seq
MIRT809565	hsa-miR-4434	CLIP-seq
MIRT809566	hsa-miR-4441	CLIP-seq
MIRT809567	hsa-miR-4443	CLIP-seq
MIRT809568	hsa-miR-4455	CLIP-seq
MIRT809569	hsa-miR-4459	CLIP-seq
MIRT809570	hsa-miR-4478	CLIP-seq
MIRT809571	hsa-miR-4483	CLIP-seq
MIRT809572	hsa-miR-4496	CLIP-seq
MIRT809573	hsa-miR-4506	CLIP-seq
MIRT809574	hsa-miR-4507	CLIP-seq
MIRT809575	hsa-miR-4510	CLIP-seq
MIRT809576	hsa-miR-4516	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809578	hsa-miR-4524	CLIP-seq
MIRT809579	hsa-miR-4635	CLIP-seq
MIRT809580	hsa-miR-4649-3p	CLIP-seq
MIRT809581	hsa-miR-4695-5p	CLIP-seq
MIRT809582	hsa-miR-4722-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT809584	hsa-miR-4736	CLIP-seq
MIRT809585	hsa-miR-4738-3p	CLIP-seq
MIRT809586	hsa-miR-4763-3p	CLIP-seq
MIRT809587	hsa-miR-4768-3p	CLIP-seq
MIRT809588	hsa-miR-4771	CLIP-seq
MIRT809589	hsa-miR-4774-3p	CLIP-seq
MIRT809590	hsa-miR-4781-3p	CLIP-seq
MIRT809591	hsa-miR-4802-5p	CLIP-seq
MIRT809592	hsa-miR-485-5p	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT809594	hsa-miR-497	CLIP-seq
MIRT809595	hsa-miR-500a	CLIP-seq
MIRT809596	hsa-miR-503	CLIP-seq
MIRT809597	hsa-miR-510	CLIP-seq
MIRT809598	hsa-miR-512-5p	CLIP-seq
MIRT809599	hsa-miR-548c-3p	CLIP-seq
MIRT809600	hsa-miR-629	CLIP-seq
MIRT809601	hsa-miR-646	CLIP-seq
MIRT809602	hsa-miR-650	CLIP-seq
MIRT809603	hsa-miR-761	CLIP-seq
MIRT809604	hsa-miR-922	CLIP-seq
MIRT809605	hsa-miR-940	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT1939165	hsa-miR-1261	CLIP-seq
MIRT809524	hsa-miR-15a	CLIP-seq
MIRT809525	hsa-miR-15b	CLIP-seq
MIRT809526	hsa-miR-16	CLIP-seq
MIRT1939166	hsa-miR-188-3p	CLIP-seq
MIRT809528	hsa-miR-195	CLIP-seq
MIRT809529	hsa-miR-203	CLIP-seq
MIRT1939167	hsa-miR-208a	CLIP-seq
MIRT1939168	hsa-miR-208b	CLIP-seq
MIRT1939169	hsa-miR-300	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939171	hsa-miR-3143	CLIP-seq
MIRT809533	hsa-miR-3145-3p	CLIP-seq
MIRT1939172	hsa-miR-3145-5p	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT1939175	hsa-miR-338-5p	CLIP-seq
MIRT1939176	hsa-miR-3605-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT1939180	hsa-miR-3658	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT1939181	hsa-miR-3667-5p	CLIP-seq
MIRT1939182	hsa-miR-3671	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT1939183	hsa-miR-381	CLIP-seq
MIRT1939184	hsa-miR-3910	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809553	hsa-miR-424	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT1939187	hsa-miR-4277	CLIP-seq
MIRT1939188	hsa-miR-4282	CLIP-seq
MIRT1939189	hsa-miR-4307	CLIP-seq
MIRT1939190	hsa-miR-4511	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809578	hsa-miR-4524	CLIP-seq
MIRT1939191	hsa-miR-4693-3p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT809585	hsa-miR-4738-3p	CLIP-seq
MIRT1939192	hsa-miR-4753-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT809594	hsa-miR-497	CLIP-seq
MIRT1939194	hsa-miR-499-5p	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT1939196	hsa-miR-548an	CLIP-seq
MIRT1939197	hsa-miR-9	CLIP-seq
MIRT809520	hsa-miR-1207-5p	CLIP-seq
MIRT2178244	hsa-miR-1227	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT2178245	hsa-miR-1587	CLIP-seq
MIRT809527	hsa-miR-1827	CLIP-seq
MIRT2178246	hsa-miR-204	CLIP-seq
MIRT2178247	hsa-miR-211	CLIP-seq
MIRT1939169	hsa-miR-300	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939172	hsa-miR-3145-5p	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT809538	hsa-miR-342-3p	CLIP-seq
MIRT1939176	hsa-miR-3605-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT809544	hsa-miR-3647-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT809546	hsa-miR-3664-3p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT2178248	hsa-miR-378g	CLIP-seq
MIRT1939183	hsa-miR-381	CLIP-seq
MIRT1939184	hsa-miR-3910	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809550	hsa-miR-3929	CLIP-seq
MIRT2178249	hsa-miR-4252	CLIP-seq
MIRT2178250	hsa-miR-4263	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809555	hsa-miR-4269	CLIP-seq
MIRT809556	hsa-miR-4270	CLIP-seq
MIRT809559	hsa-miR-4291	CLIP-seq
MIRT1939189	hsa-miR-4307	CLIP-seq
MIRT809561	hsa-miR-4419b	CLIP-seq
MIRT2178251	hsa-miR-4426	CLIP-seq
MIRT809564	hsa-miR-4433	CLIP-seq
MIRT809566	hsa-miR-4441	CLIP-seq
MIRT2178252	hsa-miR-4446-5p	CLIP-seq
MIRT809568	hsa-miR-4455	CLIP-seq
MIRT2178253	hsa-miR-4457	CLIP-seq
MIRT809569	hsa-miR-4459	CLIP-seq
MIRT809570	hsa-miR-4478	CLIP-seq
MIRT2178254	hsa-miR-4492	CLIP-seq
MIRT2178255	hsa-miR-4498	CLIP-seq
MIRT2178256	hsa-miR-4643	CLIP-seq
MIRT2178257	hsa-miR-4647	CLIP-seq
MIRT809580	hsa-miR-4649-3p	CLIP-seq
MIRT2178258	hsa-miR-4656	CLIP-seq
MIRT2178259	hsa-miR-466	CLIP-seq
MIRT2178260	hsa-miR-4662b	CLIP-seq
MIRT2178261	hsa-miR-4675	CLIP-seq
MIRT809581	hsa-miR-4695-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT2178262	hsa-miR-4735-5p	CLIP-seq
MIRT809584	hsa-miR-4736	CLIP-seq
MIRT2178263	hsa-miR-4741	CLIP-seq
MIRT2178264	hsa-miR-4755-5p	CLIP-seq
MIRT809586	hsa-miR-4763-3p	CLIP-seq
MIRT809587	hsa-miR-4768-3p	CLIP-seq
MIRT2178265	hsa-miR-4789-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT2178266	hsa-miR-4793-3p	CLIP-seq
MIRT809592	hsa-miR-485-5p	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT809595	hsa-miR-500a	CLIP-seq
MIRT2178267	hsa-miR-508-5p	CLIP-seq
MIRT809597	hsa-miR-510	CLIP-seq
MIRT809598	hsa-miR-512-5p	CLIP-seq
MIRT2178268	hsa-miR-513b	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT2178269	hsa-miR-576-5p	CLIP-seq
MIRT2178270	hsa-miR-623	CLIP-seq
MIRT2178271	hsa-miR-661	CLIP-seq
MIRT2178272	hsa-miR-762	CLIP-seq
MIRT2178273	hsa-miR-766	CLIP-seq
MIRT809605	hsa-miR-940	CLIP-seq
MIRT2384635	hsa-miR-2467-3p	CLIP-seq
MIRT2384636	hsa-miR-4257	CLIP-seq
MIRT2435595	hsa-miR-1	CLIP-seq
MIRT2435596	hsa-miR-206	CLIP-seq
MIRT2435597	hsa-miR-511	CLIP-seq
MIRT2435598	hsa-miR-613	CLIP-seq
MIRT2435599	hsa-miR-665	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT2482126	hsa-miR-1243	CLIP-seq
MIRT2482127	hsa-miR-1251	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT2178245	hsa-miR-1587	CLIP-seq
MIRT1939167	hsa-miR-208a	CLIP-seq
MIRT1939168	hsa-miR-208b	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT2482128	hsa-miR-329	CLIP-seq
MIRT1939175	hsa-miR-338-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT809543	hsa-miR-3622b-5p	CLIP-seq
MIRT2482129	hsa-miR-362-3p	CLIP-seq
MIRT2482130	hsa-miR-362-5p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT1939180	hsa-miR-3658	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT1939181	hsa-miR-3667-5p	CLIP-seq
MIRT2482131	hsa-miR-3672	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT2178248	hsa-miR-378g	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809554	hsa-miR-4253	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT2178254	hsa-miR-4492	CLIP-seq
MIRT2482132	hsa-miR-4494	CLIP-seq
MIRT2178255	hsa-miR-4498	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT2178258	hsa-miR-4656	CLIP-seq
MIRT2482133	hsa-miR-4662a-5p	CLIP-seq
MIRT2482134	hsa-miR-4663	CLIP-seq
MIRT2178261	hsa-miR-4675	CLIP-seq
MIRT2482135	hsa-miR-4684-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT2178263	hsa-miR-4741	CLIP-seq
MIRT2482136	hsa-miR-4761-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT1939194	hsa-miR-499-5p	CLIP-seq
MIRT2482137	hsa-miR-499a-5p	CLIP-seq
MIRT2482138	hsa-miR-500b	CLIP-seq
MIRT2482139	hsa-miR-501-5p	CLIP-seq
MIRT2178267	hsa-miR-508-5p	CLIP-seq
MIRT2482140	hsa-miR-526b	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT2482141	hsa-miR-548a-5p	CLIP-seq
MIRT2482142	hsa-miR-548ab	CLIP-seq
MIRT2482143	hsa-miR-548ak	CLIP-seq
MIRT2482144	hsa-miR-548b-5p	CLIP-seq
MIRT2482145	hsa-miR-548c-5p	CLIP-seq
MIRT2482146	hsa-miR-548d-5p	CLIP-seq
MIRT2482147	hsa-miR-548h	CLIP-seq
MIRT2482148	hsa-miR-548i	CLIP-seq
MIRT2482149	hsa-miR-548j	CLIP-seq
MIRT2482150	hsa-miR-548k	CLIP-seq
MIRT2482151	hsa-miR-548l	CLIP-seq
MIRT2482152	hsa-miR-548w	CLIP-seq
MIRT2482153	hsa-miR-548y	CLIP-seq
MIRT2482154	hsa-miR-559	CLIP-seq
MIRT2482155	hsa-miR-628-5p	CLIP-seq
MIRT2178271	hsa-miR-661	CLIP-seq
MIRT2178272	hsa-miR-762	CLIP-seq
MIRT2178273	hsa-miR-766	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq

148

Show/Hide all (148)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001568	Process	Blood vessel development	ISS
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005375	Function	Copper ion transmembrane transporter activity	IEA
GO:0005375	Function	Copper ion transmembrane transporter activity	ISS
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	15670166
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16051599, 16371425, 16884690, 21667063, 23563491, 26199316
GO:0005524	Function	ATP binding	IDA	19917612
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	9817923
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	8943055
GO:0005783	Component	Endoplasmic reticulum	IDA	9467005
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	9467005
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	8943055, 12812980
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12812980
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006568	Process	L-tryptophan metabolic process	IEA
GO:0006568	Process	L-tryptophan metabolic process	ISS
GO:0006570	Process	Tyrosine metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IMP	11092760
GO:0006878	Process	Intracellular copper ion homeostasis	IBA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	IMP	16397091, 28389643
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0009101	Process	Glycoprotein biosynthetic process	ISS
GO:0010273	Process	Detoxification of copper ion	IEA
GO:0010273	Process	Detoxification of copper ion	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015662	Function	P-type ion transporter activity	IEA
GO:0015677	Process	Copper ion import	IBA
GO:0015677	Process	Copper ion import	IEA
GO:0015677	Process	Copper ion import	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16397091
GO:0016532	Function	Superoxide dismutase copper chaperone activity	IEA
GO:0016532	Function	Superoxide dismutase copper chaperone activity	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	ISS
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	ISS
GO:0021860	Process	Pyramidal neuron development	IEA
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0030140	Component	Trans-Golgi network transport vesicle	IMP	9817923
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	ISS
GO:0032767	Function	Copper-dependent protein binding	IDA	31283225
GO:0032767	Function	Copper-dependent protein binding	IPI	10497213
GO:0033162	Component	Melanosome membrane	IEA
GO:0033162	Component	Melanosome membrane	ISS
GO:0042093	Process	T-helper cell differentiation	IEA
GO:0042093	Process	T-helper cell differentiation	ISS
GO:0042414	Process	Epinephrine metabolic process	IEA
GO:0042414	Process	Epinephrine metabolic process	ISS
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042415	Process	Norepinephrine metabolic process	ISS
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	ISS
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042428	Process	Serotonin metabolic process	IEA
GO:0042428	Process	Serotonin metabolic process	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	ISS
GO:0043682	Function	P-type divalent copper transporter activity	IBA
GO:0043682	Function	P-type divalent copper transporter activity	IEA
GO:0043682	Function	P-type divalent copper transporter activity	ISS
GO:0045202	Component	Synapse	IEA
GO:0045914	Process	Negative regulation of catecholamine metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IMP	11092760
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0048286	Process	Lung alveolus development	IEA
GO:0048286	Process	Lung alveolus development	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8943055, 10567439, 16397091
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	ISS
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060003	Process	Copper ion export	IBA
GO:0060003	Process	Copper ion export	IDA	10419525
GO:0060003	Process	Copper ion export	IEA
GO:0060003	Process	Copper ion export	IEA
GO:0060003	Process	Copper ion export	ISS
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0140581	Function	P-type monovalent copper transporter activity	IDA	10419525
GO:0140581	Function	P-type monovalent copper transporter activity	IEA
GO:1903136	Function	Cuprous ion binding	IDA	31283225
GO:1903136	Function	Cuprous ion binding	IMP	14572476, 15035611

MIM	HGNC	e!Ensembl
300011	869	ENSG00000165240

Q04656

Protein name

Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein)

Protein function

ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side

PDB

1AW0 , 1KVI , 1KVJ , 1Q8L , 1S6O , 1S6U , 1Y3J , 1Y3K , 1YJR , 1YJT , 1YJU , 1YJV , 2AW0 , 2G9O , 2GA7 , 2K1R , 2KIJ , 2KMV , 2KMX , 3CJK , 5T7L , 7LU8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00403	HMA	11 → 72	Heavy-metal-associated domain	Domain
PF00403	HMA	174 → 235	Heavy-metal-associated domain	Domain
PF00403	HMA	280 → 340	Heavy-metal-associated domain	Domain
PF00403	HMA	380 → 441	Heavy-metal-associated domain	Domain
PF00403	HMA	492 → 552	Heavy-metal-associated domain	Domain
PF00403	HMA	567 → 628	Heavy-metal-associated domain	Domain
PF00122	E1-E2_ATPase	814 → 1022		Family
PF00702	Hydrolase	1038 → 1313		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed including in heart, brain, lung, muscle, kidney, pancreas, and to a lesser extent placenta (PubMed:8490646, PubMed:8490659). Expressed in fibroblasts, aortic smooth muscle cells, aortic endothelial cells and umbilical

Sequence

MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPK
TLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYP
QKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGM
TCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKK
QPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLS
ALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSS
SSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE
YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQD
KEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPP
MIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALA
TNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFF
CIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLC
VPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITF
FDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE
LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSL
LICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIG
FLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGA
QNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTA
ESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDN
NIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVN
DFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT
ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGT
GTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPI
GLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGI
DDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL

Sequence length

1500

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Mineral absorption		Ion influx/efflux at host-pathogen interface Ion transport by P-type ATPases

4917

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP7A-related disorder	Likely pathogenic; Pathogenic	rs2522290057, rs797045397, rs2522419324, rs2522293582, rs1557238665	RCV005869794 RCV004725044 RCV003400363 RCV003949025 RCV004742494
Charcot-Marie-Tooth disease	Pathogenic	rs267606672	RCV000789728
Cutis laxa, X-linked	Likely pathogenic; Pathogenic	rs2149097380, rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2522414410, rs2522293121, rs2522414777, rs2522289608, rs2522290463, rs2522295420, rs2522350411, rs797045397, rs2522347918 View all (104 more)	RCV001775413 RCV002019219 RCV002044567 RCV002049796 RCV001898748 RCV001951484 RCV002306486 RCV002306510 RCV002306527 RCV002306555 RCV002306585 RCV002306618 RCV002306641 RCV002306729 RCV002306734 RCV002309568 RCV002309589 RCV002309604 RCV002309703 RCV002309754 RCV002309920 RCV002309937 RCV002309948 RCV002309985 RCV002310003 RCV002307916 RCV002307937 RCV002307976 RCV002308047 RCV002308048 RCV002308144 RCV002308183 RCV002308354 RCV002308371 RCV002309042 RCV002309139 RCV002309170 RCV002309199 RCV002309249 RCV002309277 RCV002309279 RCV002309281 RCV002309314 RCV002309354 RCV002309355 RCV002309411 RCV002306848 RCV002307056 RCV002307061 RCV002307090 RCV002307114 RCV002307138 RCV002307152 RCV002307209 RCV002307214 RCV002310136 RCV002310242 RCV002310312 RCV002310349 RCV002310378 RCV002310403 RCV002310418 RCV002310436 RCV002310482 RCV002310520 RCV002310537 RCV002308432 RCV003064740 RCV003064742 RCV003050627 RCV002760856 RCV002811279 RCV002820783 RCV002871867 RCV002866988 RCV000806050 RCV005213231 RCV000807620 RCV003765212 RCV002517056 RCV001271473 RCV001330731 RCV001044291 RCV001857689 RCV004796090 RCV001274025 RCV002517057 RCV002517917 RCV000543168 RCV001852548 RCV002917342 RCV002953115 RCV000012549 RCV001851805 RCV000012559 RCV001231166 RCV001206423 RCV003777273 RCV003777274 RCV003388229 RCV003782762 RCV003802891 RCV003803245 RCV004566571 RCV000530815 RCV000538247 RCV000552537 RCV000692272 RCV000704722 RCV000796257 RCV000806929 RCV000813946 RCV000803093 RCV001049687 RCV001194652 RCV001198146 RCV001215698 RCV001238546 RCV001237602 RCV001247321 RCV001254118
Menkes kinky-hair syndrome	Pathogenic; Likely pathogenic	rs2149094952, rs2149112273, rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2149113551, rs2149083474, rs2522414410, rs2522293121, rs2522414777, rs2522289608, rs2522290463, rs2522295420 View all (177 more)	RCV001374410 RCV001805754 RCV002019219 RCV002044567 RCV002049796 RCV001898748 RCV001951484 RCV003312048 RCV002238610 RCV002306486 RCV002306510 RCV002306527 RCV002306555 RCV002306585 RCV002306618 RCV002306641 RCV002306729 RCV002306734 RCV002309568 RCV002309589 RCV002309604 RCV002309703 RCV002309754 RCV002309920 RCV002309937 RCV002309948 RCV002309985 RCV002310003 RCV002307916 RCV002307937 RCV002307976 RCV002308047 RCV002308048 RCV002308144 RCV002308183 RCV002308354 RCV002308371 RCV002309042 RCV002309139 RCV002309170 RCV002309199 RCV002309249 RCV002309277 RCV002309279 RCV002309281 RCV002309314 RCV002309354 RCV002309355 RCV002309411 RCV002306848 RCV002307056 RCV002307061 RCV002307090 RCV002307114 RCV002307138 RCV002307152 RCV002307209 RCV002307214 RCV002310136 RCV002310242 RCV002310312 RCV002310349 RCV002310378 RCV002310403 RCV002310418 RCV002310436 RCV002310482 RCV002310520 RCV002310537 RCV002308432 RCV002472153 RCV002470435 RCV003312069 RCV003312070 RCV003312071 RCV000184052 RCV002760856 RCV002811279 RCV002820783 RCV002871867 RCV002866988 RCV000195012 RCV000194247 RCV000193287 RCV000194386 RCV000193458 RCV000193526 RCV000194569 RCV000193686 RCV000194736 RCV000192761 RCV000192830 RCV000193862 RCV000195126 RCV000193177 RCV000194213 RCV000193235 RCV000194275 RCV000192316 RCV000193718 RCV000194429 RCV000192463 RCV000193497 RCV000194915 RCV000193010 RCV000194586 RCV000193917 RCV000192993 RCV000193991 RCV000195017 RCV000194105 RCV000195170 RCV000194263 RCV000192663 RCV000193280 RCV000194331 RCV000192361 RCV000194674 RCV000193736 RCV000192331 RCV000194783 RCV000192771 RCV000193806 RCV000194847 RCV000193969 RCV000193405 RCV000194077 RCV000193101 RCV000194513 RCV000192548 RCV000193069 RCV000194489 RCV000193509 RCV000194181 RCV000192588 RCV000193615 RCV000194716 RCV000192748 RCV000194826 RCV000192813 RCV000195251 RCV000193824 RCV000195218 RCV000193268 RCV000194316 RCV000194924 RCV000193334 RCV000192416 RCV000193484 RCV000192535 RCV000193560 RCV000194645 RCV000194717 RCV000193682 RCV000192966 RCV000194001 RCV000194120 RCV002917342 RCV002953115 RCV003226753 RCV003312100 RCV000195239 RCV000012551 RCV000012555 RCV000194377 RCV000012560 RCV001206423 RCV003312827 RCV003312872 RCV003312877 RCV003312928 RCV003312933 RCV003782762 RCV003802891 RCV003803245 RCV004566572 RCV004573936 RCV004573937 RCV004594894 RCV003311807 RCV001265560 RCV000502988 RCV003311831 RCV000530815 RCV000538247 RCV000552537 RCV000626101 RCV000692272 RCV000704722 RCV003311883 RCV000796257 RCV000806929 RCV000813946 RCV000803093 RCV000990881 RCV000990883 RCV001049687 RCV001379325 RCV001215698 RCV001238546 RCV001237602 RCV001247321 RCV003311971 RCV003311976
See cases	Pathogenic	rs2522355229	RCV002287693
X-linked distal spinal muscular atrophy type 3	Likely pathogenic; Pathogenic	rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2149095964, rs2149100212, rs2149082699, rs2149090269, rs2149110457, rs398123135, rs797045331, rs2522414410, rs2522293121, rs2522414777 View all (105 more)	RCV002019219 RCV002044567 RCV002049796 RCV001898748 RCV001951484 RCV002248976 RCV002248977 RCV002249286 RCV002249287 RCV002249288 RCV002249289 RCV002251691 RCV002306486 RCV002306510 RCV002306527 RCV002306555 RCV002306585 RCV002306618 RCV002306641 RCV002306729 RCV002306734 RCV002309568 RCV002309589 RCV002309604 RCV002309703 RCV002309754 RCV002309920 RCV002309937 RCV002309948 RCV002309985 RCV002310003 RCV002307916 RCV002307937 RCV002307976 RCV002308047 RCV002308048 RCV002308144 RCV002308183 RCV002308354 RCV002308371 RCV002309042 RCV002309139 RCV002309170 RCV002309199 RCV002309249 RCV002309277 RCV002309279 RCV002309281 RCV002309314 RCV002309354 RCV002309355 RCV002309411 RCV002306848 RCV002307056 RCV002307061 RCV002307090 RCV002307114 RCV002307138 RCV002307152 RCV002307209 RCV002307214 RCV002310136 RCV002310242 RCV002310312 RCV002310349 RCV002310378 RCV002310403 RCV002310418 RCV002310436 RCV002310482 RCV002310520 RCV002310537 RCV002308432 RCV003064740 RCV003064742 RCV003050627 RCV002760856 RCV002811279 RCV002820783 RCV002871867 RCV002866988 RCV000806050 RCV005213231 RCV000807620 RCV003765212 RCV002517056 RCV001271473 RCV001044291 RCV001857689 RCV004796090 RCV001274025 RCV002517057 RCV002517917 RCV000543168 RCV001852548 RCV002917342 RCV002953115 RCV001851805 RCV001231166 RCV000012562 RCV003777273 RCV003777274 RCV003782762 RCV003802891 RCV003803245 RCV004566573 RCV000530815 RCV000538247 RCV005208712 RCV000664208 RCV000692272 RCV000704722 RCV000796257 RCV000806929 RCV000813946 RCV000803093 RCV001049687 RCV001194652 RCV001379325 RCV001215698 RCV001238546 RCV001237602 RCV001247321

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ATP7A-realted disorder	Uncertain significance	rs2149083027	RCV002245273
Au-Kline syndrome	Uncertain significance	rs1557231883	RCV003330103
Charcot-Marie-Tooth disease type 2	Uncertain significance	rs2149114100	RCV002221640
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs2077718812, rs1557234537, rs2149109593, rs2234938, rs2228447, rs143907597, rs138958687, rs139781067, rs368917354, rs370736173, rs61747968, rs1030215501, rs189353691, rs368622356, rs1557239138 View all (11 more)	RCV002278082 RCV002278119 RCV002278137 RCV002277300 RCV002277452 RCV002277449 RCV002277450 RCV002277451 RCV002277594 RCV002277595 RCV002278303 RCV002279204 RCV002279185 RCV002279202 RCV002279348 RCV002279346 RCV002279347 RCV002279462 RCV002279500 RCV002279531 RCV002279544 RCV002279557 RCV002279589 RCV002279621 RCV002276673 RCV002277140
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs146692150, rs149079962	RCV000721073 RCV000720998
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs781900997, rs1423719687, rs149576827, rs375709681	RCV005626267 RCV001252421 RCV001252423 RCV001252422
Lung cancer	Benign; Likely benign	rs181665434	RCV005896780
Malignant tumor of esophagus	Benign; Likely benign	rs181665434	RCV005896779
Melanoma	Uncertain significance	rs1030215501	RCV005898074
Menkes disease, copper-replacement responsive	Conflicting classifications of pathogenicity	rs2522349526	RCV000012556
Menkes disease, mild	Conflicting classifications of pathogenicity	rs2149112301	RCV000012547
Neuronopathy, distal hereditary motor, autosomal dominant 1	Conflicting classifications of pathogenicity	rs928516350	RCV005429086
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs782166627	RCV005901864
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs782166627	RCV005901865
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	rs181240427, rs2149097373, rs375103934	RCV005914652 RCV005920754 RCV005924048

Show/Hide Text Mining Associations (67)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	22695177
ACTH Secreting Pituitary Adenoma	Associate	35634489
Amyotrophic Lateral Sclerosis	Associate	22210628, 31959876, 37849306
Arthritis Rheumatoid	Associate	37547319
Breast Neoplasms	Associate	24504069, 27926520, 29269484, 35996075, 37027423
Carcinogenesis	Associate	37885090
Carcinoma Hepatocellular	Associate	33146201, 36502594, 37464443, 37885090
Carcinoma Non Small Cell Lung	Associate	22304828, 29970670
Central Nervous System Infections	Associate	31921404
Cerebellar Diseases	Associate	26242992
Cognition Disorders	Associate	32427278
Copper deficiency familial benign	Associate	17053847, 20170900, 22074552, 27631241, 40101690
Death	Associate	35715422
Dementia	Associate	22210628
Depressive Disorder Major	Associate	32427278
Diabetes Mellitus	Associate	37773841
Digestive System Neoplasms	Associate	36502594
Distal Hereditary Motor Neuropathy Type II	Associate	20170900, 31969342
Distal myopathy Nonaka type	Associate	19917666, 22210628
Drug Related Side Effects and Adverse Reactions	Associate	17609664, 22710939
Epilepsy	Associate	20652413
Erythrokeratodermia Variabilis 3	Associate	31630791
Esophageal Neoplasms	Associate	34747666, 37027423
Failure to Thrive	Associate	25281031
Genetic Diseases Inborn	Associate	26242992, 8981948
Glioma	Associate	40355831
Heart Arrest	Associate	17496194
Hepatolenticular Degeneration	Associate	11415452, 23963605, 35913762, 38136617, 9359859, 9813047
Hyperostosis corticalis deformans juvenilis	Associate	22210628
Hypersensitivity Delayed	Associate	25281031
Inclusion body myopathy autosomal recessive	Associate	17108763, 20497190
Intellectual Disability	Associate	35715422
Leukemia	Associate	27462781
Leukemia Myeloid Acute	Associate	27462781, 31260185
Lymphoma Large B Cell Diffuse	Associate	25403230
Lymphoma Non Hodgkin	Associate	28665070, 39337685
Medulloblastoma	Associate	25193863
Menkes Kinky Hair Syndrome	Associate	10739752, 11431706, 12221109, 16051599, 17053847, 17108763, 17496194, 18256395, 18752978, 18779302, 19194885, 20170900, 20497190, 20652413, 20799318 View all (37 more)
Mental Disorders	Associate	32427278
Motor Neuron Disease	Associate	22210628, 24754450
Multiple Myeloma	Associate	38018590
Neoplasms	Associate	30530920, 34533854, 34747666, 35908410, 36502594, 37027423, 37885090
Nerve Degeneration	Associate	22210628, 29599289, 31969342
Neuroblastoma	Associate	19127267, 21909813
Neurodegenerative Diseases	Associate	20170900, 21646353
Neurodevelopmental Disorders	Associate	31921404
Neurologic Manifestations	Associate	24754450
Occipital horn syndrome	Associate	10739752, 11431706, 17108763, 17496194, 20170900, 20497190, 22074552, 22134099, 22210628, 24002164, 24754450, 25574028, 26242992, 29599289, 7649557
Osteoporosis	Associate	30530920
Ovarian Neoplasms	Associate	35645119, 39337685
Pancreatic Neoplasms	Associate	26609108
Peripheral Nervous System Diseases	Associate	22210628
Prostatic Neoplasms	Associate	25605250, 37460872
Sarcoma	Associate	33564073
Seizures	Associate	35715422
Severe Acute Respiratory Syndrome	Associate	35715422
Sialic Acid Storage Disease	Associate	19917666
Signs and Symptoms	Associate	20497190
Skin Abnormalities	Associate	20497190
Spinal muscular atrophy Jerash type	Associate	20170900, 20497190, 22210628, 24754450, 25574028, 29599289
Squamous Cell Carcinoma of Head and Neck	Associate	36618352
Triple Negative Breast Neoplasms	Associate	37259036
Tuberous Sclerosis	Associate	31921404
Turner Syndrome	Associate	39940742
Urinary Bladder Neurogenic	Associate	30530920
Uterine Cervical Neoplasms	Associate	35908410
Vascular Diseases	Associate	22134099

ATP7A (ATPase copper transporting alpha)