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 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| 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 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| 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, |
| 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 | - | - | - |
