CPS1

GENE INFORMATION

? »

Gene name

CPS1

Synonyms

Description

carbamoyl-phosphate synthase 1, mitochondrial (HGNC Symbol)

Entrez gene 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.[provided by RefSeq, May 2010]

Chromosome

2 (Chromosome progress)

Cytoband

q34

Chromosome location (bp)

211342406 - 211543831

Ensembl

ENSG00000021826 (version 73.37)

Entrez gene

1373

UniProt

P31327 (UniProt - Evidence at protein level)

neXtProt

NX_P31327

Antibodypedia

CPS1 antibodies
 

PROTEIN VIEW

? »
 
 
 
CPS1-001
 
CPS1-002
 
CPS1-003
 
CPS1-009
 
CPS1-010
 
CPS1-011
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CPS1-001 ENSP00000233072
ENST00000233072
P31327
Show all »
Show » Show » 1500 164.9 No 0
CPS1-002 ENSP00000388496
ENST00000417946
C9JTA4
Show all »
Show » 121 13 No 0
CPS1-003 ENSP00000406136
ENST00000451903
P31327
Show all »
Show » Show » 1049 116 No 0
CPS1-009 ENSP00000430644
ENST00000523702
E7EWJ3
Show all »
Show » 157 17 No 0
CPS1-010 ENSP00000430697
ENST00000518043
C9JTA4
Show all »
Show » 121 13 No 0
CPS1-011 ENSP00000402608
ENST00000430249
P31327
Show all »
Show » Show » 1506 165.6 No 0