Official symbol | CPS1 |
Gene id | 1373 |
Organism | Homo sapiens |
Official full symbol | carbamoyl-phosphate synthase 1 |
Gene type | protein-coding |
Also known as | CPSASE1, PHN |
Summary | 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 protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation. |
Genomic regions | Chromosome 2 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CPS1-213 | ENST00000673630.1 | 5775 | 1500aa | Protein coding | CCDS2393 | P31327-1 | - | GENCODE basic, APPRIS P1, |
CPS1-201 | ENST00000233072.10 | 5760 | 1500aa | Protein coding | CCDS2393 | P31327-1 | NM_001875.5 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CPS1-202 | ENST00000430249.7 | 5723 | 1506aa | Protein coding | CCDS46505 | P31327-3 | - | TSL:1, GENCODE basic, |
CPS1-215 | ENST00000673711.1 | 5698 | 1500aa | Protein coding | CCDS2393 | P31327-1 | - | GENCODE basic, APPRIS P1, |
CPS1-212 | ENST00000673510.1 | 4880 | 1500aa | Protein coding | CCDS2393 | P31327-1 | - | GENCODE basic, APPRIS P1, |
CPS1-203 | ENST00000451903.3 | 4779 | 1049aa | Protein coding | CCDS46506 | P31327-2 | - | TSL:1, GENCODE basic, |
CPS1-209 | ENST00000619804.1 | 1542 | 513aa | Protein coding | - | Q5R211 | - | TSL:5, GENCODE basic, |
CPS1-214 | ENST00000673698.1 | 4138 | 660aa | Nonsense mediated decay | - | A0A669KBF2 | - | CDS 5' incomplete, |
CPS1-216 | ENST00000674074.1 | 4770 | No protein | Processed transcript | - | - | - | - |
CPS1-210 | ENST00000645825.1 | 2180 | No protein | Processed transcript | - | - | - | - |
CPS1-207 | ENST00000497121.1 | 585 | No protein | Processed transcript | - | - | - | TSL:4, |
CPS1-211 | ENST00000671984.1 | 501 | No protein | Processed transcript | - | - | - | - |
CPS1-206 | ENST00000479988.1 | 4811 | No protein | Retained intron | - | - | - | TSL:1, |
CPS1-205 | ENST00000470791.1 | 501 | No protein | Retained intron | - | - | - | TSL:2, |
CPS1-208 | ENST00000497163.1 | 443 | No protein | Retained intron | - | - | - | TSL:3, |
CPS1-204 | ENST00000467353.1 | 323 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | CPS1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CPS1 had been KO in hela cell line. |
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