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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1373
Gene name Gene Name - the full gene name approved by the HGNC.	Carbamoyl-phosphate synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CPS1
Synonyms (NCBI Gene) Gene synonyms aliases	CPSASE1, GATD6, PHN
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PHN
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q34
Summary Summary of gene provided in NCBI Entrez Gene.	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded pr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28940283	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs41272669	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs114819130	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912592	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912593	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs121912594	A>C	Benign, risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121912595	G>A,C,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912596	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs138392504	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs138779023	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs141373204	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs192759073	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs200214298	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs201716417	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs202107577	C>A,T	Likely-benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs369061090	T>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs727502824	GTG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs755530984	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs755882799	G>A,T	Likely-pathogenic	Splice acceptor variant
rs756021170	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs757205958	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758724746	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759201450	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs761225695	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs764384490	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766584384	A>G	Likely-pathogenic	Splice acceptor variant
rs767575696	T>C	Likely-pathogenic	Splice donor variant
rs767694281	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772497399	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs778346264	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs778766382	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs778958318	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs781088670	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs961015305	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1015051007	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064794258	G>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs1275489342	G>A,C	Likely-pathogenic	Intron variant
rs1318756445	AT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, non coding transcript variant
rs1326644714	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1341782266	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1374322297	T>C	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1375304341	CTACAATGGTCAG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1392934477	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs1414143303	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553507155	G>T	Likely-pathogenic	Coding sequence variant, missense variant, initiator codon variant, genic upstream transcript variant, non coding transcript variant
rs1553507167	A>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553507183	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553509010	->AAGTGGTT	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553509023	G>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553509303	A>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553509924	GA>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553510520	G>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553510944	G>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553511326	G>A	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1553511789	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553512225	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553512642	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553513387	G>T	Likely-pathogenic	Splice acceptor variant
rs1553513429	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553513433	G>A	Likely-pathogenic	Splice donor variant
rs1553513864	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553516660	G>A	Likely-pathogenic	Splice donor variant
rs1553517122	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553517224	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553517670	->GG	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1553518389	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553518395	T>A	Likely-pathogenic	Splice donor variant
rs1553518719	A>T	Likely-pathogenic	Splice acceptor variant
rs1553518720	G>C	Likely-pathogenic	Splice acceptor variant
rs1553518726	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559129372	G>C	Pathogenic	Splice donor variant
rs1574543988	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1574548003	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1574566578	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574567901	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574577755	T>C	Likely-pathogenic	Splice donor variant
rs1574632659	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574646079	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051022	hsa-miR-17-5p	CLASH	23622248
MIRT688725	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688724	hsa-miR-548av-5p	HITS-CLIP	23313552
MIRT688723	hsa-miR-548k	HITS-CLIP	23313552
MIRT688722	hsa-miR-8054	HITS-CLIP	23313552
MIRT688721	hsa-miR-548l	HITS-CLIP	23313552
MIRT688720	hsa-miR-3609	HITS-CLIP	23313552
MIRT688719	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT688718	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT688717	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT051022	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT688716	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT688715	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT688714	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT688713	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT688712	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT688711	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT205178	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT205179	hsa-miR-4255	HITS-CLIP	23313552
MIRT688710	hsa-miR-200a-5p	HITS-CLIP	23313552
MIRT688709	hsa-miR-200b-5p	HITS-CLIP	23313552
MIRT688708	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT688707	hsa-miR-4324	HITS-CLIP	23313552
MIRT688706	hsa-miR-544b	HITS-CLIP	23313552
MIRT688705	hsa-miR-4682	HITS-CLIP	23313552
MIRT688704	hsa-miR-1913	HITS-CLIP	23313552
MIRT688703	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT688702	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT688701	hsa-miR-302a-5p	HITS-CLIP	23313552
MIRT688700	hsa-miR-496	HITS-CLIP	23313552
MIRT688699	hsa-miR-7976	HITS-CLIP	23313552
MIRT688698	hsa-miR-3173-5p	HITS-CLIP	23313552
MIRT688697	hsa-miR-6799-3p	HITS-CLIP	23313552
MIRT688696	hsa-miR-146b-3p	HITS-CLIP	23313552
MIRT688695	hsa-miR-630	HITS-CLIP	23313552
MIRT688694	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT688693	hsa-miR-1200	HITS-CLIP	23313552
MIRT688692	hsa-miR-4727-5p	HITS-CLIP	23313552
MIRT688691	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688690	hsa-miR-1273h-3p	HITS-CLIP	23313552
MIRT688689	hsa-miR-3678-3p	HITS-CLIP	23313552
MIRT688688	hsa-miR-1303	HITS-CLIP	23313552
MIRT688687	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT688686	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT478924	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT478923	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT478922	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT478921	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478920	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT478919	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT478918	hsa-miR-8060	PAR-CLIP	23592263
MIRT478917	hsa-miR-6744-5p	PAR-CLIP	23592263
MIRT478916	hsa-miR-1255a	PAR-CLIP	23592263
MIRT478915	hsa-miR-1255b-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478913	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT478912	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT688725	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT688724	hsa-miR-548av-5p	HITS-CLIP	23313552
MIRT688723	hsa-miR-548k	HITS-CLIP	23313552
MIRT688722	hsa-miR-8054	HITS-CLIP	23313552
MIRT688721	hsa-miR-548l	HITS-CLIP	23313552
MIRT688720	hsa-miR-3609	HITS-CLIP	23313552
MIRT688719	hsa-miR-548ah-5p	HITS-CLIP	23313552
MIRT688718	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT688717	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT051022	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT688716	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT688715	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT688714	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT688713	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT688712	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT688711	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT205178	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT205179	hsa-miR-4255	HITS-CLIP	23313552
MIRT688710	hsa-miR-200a-5p	HITS-CLIP	23313552
MIRT688709	hsa-miR-200b-5p	HITS-CLIP	23313552
MIRT688708	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT688707	hsa-miR-4324	HITS-CLIP	23313552
MIRT688706	hsa-miR-544b	HITS-CLIP	23313552
MIRT688705	hsa-miR-4682	HITS-CLIP	23313552
MIRT688704	hsa-miR-1913	HITS-CLIP	23313552
MIRT688703	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT688702	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT688701	hsa-miR-302a-5p	HITS-CLIP	23313552
MIRT688700	hsa-miR-496	HITS-CLIP	23313552
MIRT688699	hsa-miR-7976	HITS-CLIP	23313552
MIRT688698	hsa-miR-3173-5p	HITS-CLIP	23313552
MIRT688697	hsa-miR-6799-3p	HITS-CLIP	23313552
MIRT688696	hsa-miR-146b-3p	HITS-CLIP	23313552
MIRT688695	hsa-miR-630	HITS-CLIP	23313552
MIRT688694	hsa-miR-142-3p	HITS-CLIP	23313552
MIRT688693	hsa-miR-1200	HITS-CLIP	23313552
MIRT688692	hsa-miR-4727-5p	HITS-CLIP	23313552
MIRT688691	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688690	hsa-miR-1273h-3p	HITS-CLIP	23313552
MIRT688689	hsa-miR-3678-3p	HITS-CLIP	23313552
MIRT688688	hsa-miR-1303	HITS-CLIP	23313552
MIRT688687	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT688686	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT478924	hsa-miR-4694-3p	PAR-CLIP	23592263
MIRT478923	hsa-miR-224-3p	PAR-CLIP	23592263
MIRT478922	hsa-miR-522-3p	PAR-CLIP	23592263
MIRT478921	hsa-miR-216a-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478920	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT478919	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT478918	hsa-miR-8060	PAR-CLIP	23592263
MIRT478917	hsa-miR-6744-5p	PAR-CLIP	23592263
MIRT478916	hsa-miR-1255a	PAR-CLIP	23592263
MIRT478915	hsa-miR-1255b-5p	PAR-CLIP	23592263
MIRT478914	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT478913	hsa-miR-7154-5p	PAR-CLIP	23592263
MIRT478912	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT907042	hsa-miR-1227	CLIP-seq
MIRT907043	hsa-miR-1254	CLIP-seq
MIRT907044	hsa-miR-1255b	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907046	hsa-miR-1343	CLIP-seq
MIRT907047	hsa-miR-185	CLIP-seq
MIRT907048	hsa-miR-2052	CLIP-seq
MIRT907049	hsa-miR-216a	CLIP-seq
MIRT907050	hsa-miR-3116	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907052	hsa-miR-3120-3p	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907055	hsa-miR-3200-3p	CLIP-seq
MIRT907056	hsa-miR-338-5p	CLIP-seq
MIRT907057	hsa-miR-3545-3p	CLIP-seq
MIRT907058	hsa-miR-3685	CLIP-seq
MIRT907059	hsa-miR-3689a-3p	CLIP-seq
MIRT907060	hsa-miR-3689c	CLIP-seq
MIRT907061	hsa-miR-3690	CLIP-seq
MIRT907062	hsa-miR-384	CLIP-seq
MIRT907063	hsa-miR-4252	CLIP-seq
MIRT907064	hsa-miR-4254	CLIP-seq
MIRT907065	hsa-miR-4306	CLIP-seq
MIRT907066	hsa-miR-4422	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907069	hsa-miR-4537	CLIP-seq
MIRT907070	hsa-miR-4644	CLIP-seq
MIRT907071	hsa-miR-4662a-5p	CLIP-seq
MIRT907072	hsa-miR-4693-3p	CLIP-seq
MIRT907073	hsa-miR-4722-5p	CLIP-seq
MIRT907074	hsa-miR-4768-3p	CLIP-seq
MIRT907075	hsa-miR-4773	CLIP-seq
MIRT907076	hsa-miR-4793-3p	CLIP-seq
MIRT907077	hsa-miR-508-5p	CLIP-seq
MIRT907078	hsa-miR-574-5p	CLIP-seq
MIRT907079	hsa-miR-766	CLIP-seq
MIRT907080	hsa-miR-891b	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907048	hsa-miR-2052	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT1556200	hsa-miR-302f	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907042	hsa-miR-1227	CLIP-seq
MIRT907043	hsa-miR-1254	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907047	hsa-miR-185	CLIP-seq
MIRT907050	hsa-miR-3116	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907063	hsa-miR-4252	CLIP-seq
MIRT907064	hsa-miR-4254	CLIP-seq
MIRT907065	hsa-miR-4306	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT907070	hsa-miR-4644	CLIP-seq
MIRT907072	hsa-miR-4693-3p	CLIP-seq
MIRT907076	hsa-miR-4793-3p	CLIP-seq
MIRT907077	hsa-miR-508-5p	CLIP-seq
MIRT907079	hsa-miR-766	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT907053	hsa-miR-3136-5p	CLIP-seq
MIRT907054	hsa-miR-3185	CLIP-seq
MIRT907067	hsa-miR-4439	CLIP-seq
MIRT907068	hsa-miR-4513	CLIP-seq
MIRT2508251	hsa-miR-1323	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT2508252	hsa-miR-141	CLIP-seq
MIRT2508253	hsa-miR-198	CLIP-seq
MIRT2508254	hsa-miR-200a	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT2508255	hsa-miR-3164	CLIP-seq
MIRT2508256	hsa-miR-3181	CLIP-seq
MIRT2508257	hsa-miR-3613-3p	CLIP-seq
MIRT2508258	hsa-miR-3618	CLIP-seq
MIRT2508259	hsa-miR-371-5p	CLIP-seq
MIRT2508260	hsa-miR-371b-5p	CLIP-seq
MIRT2508261	hsa-miR-3920	CLIP-seq
MIRT2508262	hsa-miR-4480	CLIP-seq
MIRT2508263	hsa-miR-4668-3p	CLIP-seq
MIRT2508264	hsa-miR-4686	CLIP-seq
MIRT2508265	hsa-miR-548a-3p	CLIP-seq
MIRT2508266	hsa-miR-548ac	CLIP-seq
MIRT2508267	hsa-miR-548ae	CLIP-seq
MIRT2508268	hsa-miR-548aj	CLIP-seq
MIRT2508269	hsa-miR-548am	CLIP-seq
MIRT2508270	hsa-miR-548d-3p	CLIP-seq
MIRT2508271	hsa-miR-548e	CLIP-seq
MIRT2508272	hsa-miR-548f	CLIP-seq
MIRT2508273	hsa-miR-548o	CLIP-seq
MIRT2508274	hsa-miR-548x	CLIP-seq
MIRT2508275	hsa-miR-548z	CLIP-seq
MIRT2508276	hsa-miR-570	CLIP-seq
MIRT2508277	hsa-miR-934	CLIP-seq
MIRT907045	hsa-miR-134	CLIP-seq
MIRT2508252	hsa-miR-141	CLIP-seq
MIRT2508254	hsa-miR-200a	CLIP-seq
MIRT907051	hsa-miR-3118	CLIP-seq
MIRT2508255	hsa-miR-3164	CLIP-seq
MIRT2508256	hsa-miR-3181	CLIP-seq
MIRT2508257	hsa-miR-3613-3p	CLIP-seq
MIRT2508258	hsa-miR-3618	CLIP-seq
MIRT2508259	hsa-miR-371-5p	CLIP-seq
MIRT2508260	hsa-miR-371b-5p	CLIP-seq
MIRT2508261	hsa-miR-3920	CLIP-seq
MIRT2508262	hsa-miR-4480	CLIP-seq
MIRT2508263	hsa-miR-4668-3p	CLIP-seq
MIRT2508264	hsa-miR-4686	CLIP-seq
MIRT2508266	hsa-miR-548ac	CLIP-seq
MIRT2508267	hsa-miR-548ae	CLIP-seq
MIRT2508268	hsa-miR-548aj	CLIP-seq
MIRT2508269	hsa-miR-548am	CLIP-seq
MIRT2508270	hsa-miR-548d-3p	CLIP-seq
MIRT2508274	hsa-miR-548x	CLIP-seq
MIRT2508275	hsa-miR-548z	CLIP-seq
MIRT2508277	hsa-miR-934	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	NAS	1840546
GO:0000050	Process	Urea cycle	TAS
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	EXP	6249820
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	IMP	8486760, 9711878
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA
GO:0004175	Function	Endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12620389, 15161933, 20618440
GO:0005524	Function	ATP binding	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006541	Process	Glutamine metabolic process	IBA	21873635
GO:0006807	Process	Nitrogen compound metabolic process	IBA	21873635
GO:0007494	Process	Midgut development	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0014075	Process	Response to amine	IEA
GO:0016595	Function	Glutamate binding	IEA
GO:0019240	Process	Citrulline biosynthetic process	NAS	14718356
GO:0019433	Process	Triglyceride catabolic process	IMP	9711878
GO:0032094	Process	Response to food	IEA
GO:0032496	Process	Response to lipopolysaccharide	IDA	15897806
GO:0032991	Component	Protein-containing complex	IEA
GO:0042311	Process	Vasodilation	IMP	14718356
GO:0042493	Process	Response to drug	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0043200	Process	Response to amino acid	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046209	Process	Nitric oxide metabolic process	IMP	14718356
GO:0050667	Process	Homocysteine metabolic process	IDA	20031578
GO:0055081	Process	Anion homeostasis	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0070409	Process	Carbamoyl phosphate biosynthetic process	IMP	7416778, 21120950
GO:0071242	Process	Cellular response to ammonium ion	IMP	21120950
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	IEA
GO:0071400	Process	Cellular response to oleic acid	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0072341	Function	Modified amino acid binding	IDA	20031578

MIM	HGNC	e!Ensembl
608307	2323	ENSG00000021826

Protein

UniProt ID

P31327

Protein name

Carbamoyl-phosphate synthase [ammonia], mitochondrial (EC 6.3.4.16) (Carbamoyl-phosphate synthetase I) (CPSase I)

Protein function

Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

PDB

2YVQ , 4UTR , 4UTV , 4UTX , 4UTZ , 4UU7 , 4UU8 , 4UUA , 4UUB , 5DOT , 5DOU , 5OJO , 6UEL , 6W2J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00988	CPSase_sm_chain	45 → 183	Carbamoyl-phosphate synthase small chain, CPSase domain	Domain
PF00117	GATase	221 → 397	Glutamine amidotransferase class-I	Domain
PF02786	CPSase_L_D2	546 → 750	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
PF02787	CPSase_L_D3	841 → 920	Carbamoyl-phosphate synthetase large chain, oligomerisation domain	Domain
PF02786	CPSase_L_D2	1088 → 1291	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
PF02142	MGS	1373 → 1465	MGS-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily in the liver and small intestine.

Sequence

MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYS
FGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKY
LESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGA
EVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLIT
GLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRV
EVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQAD
TVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGIC
PNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHT
GDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDR
FHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLR
KELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMT
EETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYV
TYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETV
STDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSP
LQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMN
VVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAG
VHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRA
SRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRD
ADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQ
LHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPN
NNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA

Sequence length

1500

Interactions

View interactions

Show/Hide Unknown Diseases (9)

Disease term	Disease name	Evidence	Source
Unknown
Carbamoyl Phosphate Synthase Deficiency	carbamoyl phosphate synthetase I deficiency disease		GenCC
Kidney Disease	Kidney Disease		GWAS
Gout	Gout		GWAS
Monoclonal Gammapathies	Monoclonal Gammapathies		GWAS
Diabetes	Diabetes		GWAS
Metabolic Syndrome	Metabolic Syndrome		GWAS
Cholelithiasis	Cholelithiasis		GWAS
Urolithiasis	Urolithiasis		GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	28376202, 30808730, 33493519, 34996932, 37047726, 37709932, 37938151
Adenoma	Associate	37565794
Adenomatous Polyposis Coli	Associate	37565794
Azoospermia	Associate	36945018
Carbamoyl Phosphate Synthase I Deficiency Disease	Associate	28444906, 29314318, 31749211, 33090410
Carcinogenesis	Associate	18026163, 21281797
Carcinoma Hepatocellular	Inhibit	21281797
Carcinoma Hepatocellular	Associate	25526364, 25780289, 28622513
Carcinoma Non Small Cell Lung	Associate	30808730
Carcinoma Ovarian Epithelial	Inhibit	28770969
Cardiovascular Diseases	Associate	31104335
Cerebral Infarction	Associate	26352407
Cholangiocarcinoma	Stimulate	26499888
Colorectal Neoplasms	Associate	20828217, 25099619
Consciousness Disorders	Associate	34670888
Conversion Disorder	Associate	26499888
Coronary Artery Disease	Associate	26822151
Death	Associate	27833157
Diabetes Mellitus Type 2	Associate	31652446
Down Syndrome	Associate	17188582
Duodenal Neoplasms	Associate	37565794
Enterocolitis Necrotizing	Associate	20520828, 27833157
Fatty Liver Alcoholic	Associate	21137056
Glioblastoma	Associate	24358143, 37047726
Glioma	Inhibit	31545272
Glioma	Associate	37047726
Heart Diseases	Associate	17188582
Hyperammonemia	Associate	29314318, 34670888
Hypertension Pulmonary	Associate	26352407
Immunologic Deficiency Syndromes	Associate	20855223, 34970092
Inflammation	Associate	31104335
Inflammation	Inhibit	39209027
Insulin Resistance	Associate	31104335
Leukodystrophy Metachromatic	Associate	29314318
Liver Diseases	Associate	25387814, 31366360
Liver Failure	Associate	18026163
Liver Neoplasms	Inhibit	21281797
Liver Neoplasms	Associate	30176945
Lung Neoplasms	Associate	27662619
Lymphatic Metastasis	Associate	28770969
Lymphoma Large B Cell Diffuse	Associate	37222921
Migraine Disorders	Associate	34294844
Neoplasm Metastasis	Associate	25099619
Neoplasm Metastasis	Inhibit	27662619
Neoplasms	Associate	18026163, 25099619, 25526364, 28770969, 30808730, 37047726
Neoplasms	Inhibit	27662619
Nervous System Diseases	Associate	33090410
Ophthalmoplegia painful	Associate	38233749
Osler rendu weber syndrome 2	Associate	28250457
Pediatric Obesity	Associate	20520828
Persistent Fetal Circulation Syndrome	Associate	28609431, 31382961
Rectal Neoplasms	Associate	25099619
Renal Insufficiency Chronic	Associate	26352407
Retinal Dysplasia	Associate	20828217
Stomach Neoplasms	Associate	36098904, 37047726
Urea Cycle Disorders Inborn	Associate	34670888
Weight Loss	Associate	26938218

CPS1 (carbamoyl-phosphate synthase 1)