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	10269
Gene name	Zinc metallopeptidase STE24
Gene symbol	ZMPSTE24
Synonyms (NCBI Gene)	FACE-1FACE1HGPSPRO1RSDM1STE24Ste24p
Chromosome	1
Chromosome location	1p34.2
Summary	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61751009	G>A	Pathogenic	Splice acceptor variant
rs121908093	T>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs121908094	C>T	Pathogenic, not-provided	Stop gained, non coding transcript variant, coding sequence variant
rs121908095	C>G,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs137854889	T>-,TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs150740479	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607181	G>A,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs281875360	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875361	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875367	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875375	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875376	G>A	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, stop gained
rs750229142	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs786205123	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044057	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1431637197	T>A,G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569668526	TTCTAGATGAATTCTTTCCTGTGTTTTTTTTT>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1569671504	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

373

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004942	hsa-miR-98-5p	qRT-PCR	17942906
MIRT022576	hsa-miR-124-3p	Microarray	18668037
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT1514647	hsa-miR-141	CLIP-seq
MIRT1514648	hsa-miR-1914	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT1514650	hsa-miR-200a	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT1514659	hsa-miR-3607-5p	CLIP-seq
MIRT1514660	hsa-miR-3611	CLIP-seq
MIRT1514661	hsa-miR-3614-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT1514663	hsa-miR-3617	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT1514665	hsa-miR-3653	CLIP-seq
MIRT1514666	hsa-miR-3658	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT1514669	hsa-miR-3913-3p	CLIP-seq
MIRT1514670	hsa-miR-4268	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT1514673	hsa-miR-4302	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT1514675	hsa-miR-4448	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514679	hsa-miR-4477a	CLIP-seq
MIRT1514680	hsa-miR-4484	CLIP-seq
MIRT1514681	hsa-miR-4496	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514698	hsa-miR-499-3p	CLIP-seq
MIRT1514699	hsa-miR-499a-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514707	hsa-miR-584	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT1514709	hsa-miR-641	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT1514713	hsa-miR-944	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT2375146	hsa-miR-3074-5p	CLIP-seq
MIRT2375147	hsa-miR-3124-3p	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2375150	hsa-miR-3156-3p	CLIP-seq
MIRT2375151	hsa-miR-3174	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT2375153	hsa-miR-3673	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT2375155	hsa-miR-4301	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2375158	hsa-miR-4704-3p	CLIP-seq
MIRT2375159	hsa-miR-4717-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2375161	hsa-miR-4769-3p	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2375162	hsa-miR-640	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2695728	hsa-miR-3920	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003231	Process	Cardiac ventricle development	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0004175	Function	Endopeptidase activity	IDA	33293369
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	23539603, 28169297, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	10373325
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006925	Process	Inflammatory cell apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006997	Process	Nucleus organization	IEA
GO:0006998	Process	Nuclear envelope organization	IDA	2188730
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008235	Function	Metalloexopeptidase activity	TAS	10373325
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010906	Process	Regulation of glucose metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030327	Process	Prenylated protein catabolic process	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	28246125
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0043007	Process	Maintenance of rDNA	IEA
GO:0043516	Process	Regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048145	Process	Regulation of fibroblast proliferation	IEA
GO:0048538	Process	Thymus development	IEA
GO:0050688	Process	Regulation of defense response to virus	IDA	28246125
GO:0050688	Process	Regulation of defense response to virus	IEA
GO:0050688	Process	Regulation of defense response to virus	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051604	Process	Protein maturation	IDA	33293369
GO:0051604	Process	Protein maturation	IDA	33293369
GO:0051604	Process	Protein maturation	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0061762	Process	CAMKK-AMPK signaling cascade	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070302	Process	Regulation of stress-activated protein kinase signaling cascade	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0071586	Process	CAAX-box protein processing	IBA
GO:0071586	Process	CAAX-box protein processing	IEA
GO:0072423	Process	Response to DNA damage checkpoint signaling	IEA
GO:1903463	Process	Regulation of mitotic cell cycle DNA replication	IEA
GO:1903522	Process	Regulation of blood circulation	IEA
GO:1903799	Process	Negative regulation of miRNA processing	IEA
GO:1990036	Process	Calcium ion import into sarcoplasmic reticulum	IEA
GO:2000730	Process	Regulation of termination of RNA polymerase I transcription	IEA
GO:2000772	Process	Regulation of cellular senescence	IEA

MIM	HGNC	e!Ensembl
606480	12877	ENSG00000084073

O75844

Protein name

CAAX prenyl protease 1 homolog (EC 3.4.24.84) (Farnesylated proteins-converting enzyme 1) (FACE-1) (Prenyl protein-specific endoprotease 1) (Zinc metalloproteinase Ste24 homolog)

Protein function

Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically remove

PDB

2YPT , 4AW6 , 5SYT , 6BH8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16491	Peptidase_M48_N	41 → 225	CAAX prenyl protease N-terminal, five membrane helices	Domain
PF01435	Peptidase_M48	228 → 473	Peptidase family M48	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. High levels in kidney, prostate, testis and ovary. {ECO:0000269|PubMed:10076063}.

Sequence

MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMD
SETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEI
TQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLP
VSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGM
EPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCF
FLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADA
FAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH

Sequence length

475

Interactions

View interactions

	KEGG
	Terpenoid backbone biosynthesis

157

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lethal tight skin contracture syndrome	Pathogenic; Likely pathogenic	rs312262686, rs281875370, rs2522367272, rs137854889, rs267607181, rs281875361, rs281875367, rs281875360, rs786205123, rs1569668526	RCV001727596 RCV002492493 RCV002289370 RCV000023547 RCV000004497 RCV000023548 RCV000023549 RCV000034313 RCV000034314 RCV000986288
Mandibuloacral dysplasia with type B lipodystrophy	Pathogenic; Likely pathogenic	rs312262686, rs281875369, rs281875370, rs137854889, rs121908093, rs121908094, rs121908095, rs1217416700, rs281875376	RCV004798783 RCV003147343 RCV002492493 RCV000004492 RCV000004493 RCV000004495 RCV000004496 RCV003147886 RCV000023550
Restrictive dermopathy 1	Pathogenic	rs137854889, rs2522418687	RCV004593959 RCV004595124
ZMPSTE24-related disorder	Pathogenic; Likely pathogenic	rs137854889, rs1217416700	RCV000335839 RCV005230463

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs150740479	RCV005895591
Clear cell carcinoma of kidney	Benign; Likely benign	rs369946970	RCV005907521
Familial cancer of breast	Conflicting classifications of pathogenicity	rs150740479	RCV005895590
Mandibuloacral dysplasia	Uncertain significance; Conflicting classifications of pathogenicity	rs1040401350, rs900182370, rs531255312, rs151221982, rs1057515563, rs1057515558, rs747563189, rs200527699	RCV000303317 RCV000339111 RCV000385121 RCV000290774 RCV000265347 RCV000381739 RCV000293484 RCV000351669
Melanoma	Benign; Likely benign	rs369946970	RCV005907523
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs369946970, rs777632184	RCV005907522 RCV005913661

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Chronobiology Disorders	Associate	30548811
Cockayne Syndrome	Associate	30548811
Coronary Artery Disease	Associate	30548811
COVID 19	Associate	34003736
Diabetes Mellitus	Associate	29526462
digital ulcers	Associate	24169522
Drug Related Side Effects and Adverse Reactions	Associate	18435794, 29526462
Fibrosis	Associate	31666429
Growth Disorders	Associate	31856865
Immunologic Deficiency Syndromes	Associate	29341437
Inflammation	Associate	32872320
Kidney Diseases	Associate	20814950, 25286833
Laminopathies	Associate	16186497, 16297189, 38050983
Lipodystrophy	Associate	20814950
Mandibuloacral dysplasia with type A lipodystrophy	Associate	18435794, 18796515, 20814950, 30548811, 36927562, 38050983
Mandibuloacral dysplasia with type B lipodystrophy	Associate	21267004, 25286833, 29794150, 31856865, 35597529, 36927562
Metabolic Syndrome	Associate	34003736
Micrognathism	Associate	20814950
Muscular Diseases	Associate	21267004
Muscular Dystrophy Congenital Megaconial Type	Associate	37448194
Myotonia Congenita	Associate	21267004
Premature Birth	Associate	20814950
Progeria	Associate	16186497, 19680556, 29341437, 29794150, 34999130, 35597529, 38050983
Progeroid syndrome neonatal	Associate	18363904, 21267004, 24169522, 27034136, 29794150, 38050983
Renal Insufficiency Chronic	Associate	30548811
Skin Diseases	Associate	18435794
Thinness	Associate	20814950
Tight skin contracture syndrome lethal	Associate	16297189, 21108632, 21267004, 23597553, 24169522, 29794150, 35597529
Uniparental Disomy	Associate	29341437
Vascular System Injuries	Associate	34003736

ZMPSTE24 (zinc metallopeptidase STE24)