Description
carbamoyl-phosphate synthase 1, mitochondrial [Source:HGNC Symbol;Acc:2323]
Gene Synonyms
CPSASE1, PHN
Location
Chromosome 2: 211,342,406-211,543,831 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 11 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000233072.5 | CPS1-001 | 5821 | 1500aa | ENSP00000233072.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2393 | B7ZAW0 C9JTA4 P31327 Q5R207 | NM_001875.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000430249.2 | CPS1-011 | 5698 | 1506aa | ENSP00000402608.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46505 | B7ZAW0 C9JTA4 E7EWJ3 P31327 Q5R207 | NM_001122633.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000451903.2 | CPS1-003 | 4770 | 1049aa | ENSP00000406136.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46506 | B7ZAW0 P31327 | NM_001122634.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000417946.1 | CPS1-002 | 699 | 121aa | ENSP00000388496.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JTA4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000518043.1 | CPS1-010 | 585 | 121aa | ENSP00000430697.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JTA4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000523702.1 | CPS1-009 | 546 | 157aa | ENSP00000430644.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JTA4 E7EWJ3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000497121.1 | CPS1-007 | 585 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000479988.1 | CPS1-004 | 4811 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000470791.1 | CPS1-008 | 501 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000497163.1 | CPS1-005 | 443 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000467353.1 | CPS1-006 | 323 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
