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CPS1

GENERAL INFORMATION

Gene name

 CPS1

Gene description

 Carbamoyl-phosphate synthase 1, mitochondrial

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (duodenum, liver, small intestine)
GTEx:Tissue enriched (liver)
FANTOM5:Tissue enriched (liver)

Protein evidence

 Evidence at protein level

Protein expression

 Selective granular cytoplasmic expression in small intestine and hepatocytes.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA021400 , CAB003781
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (duodenum, liver, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)

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

Cytoband

 q34

Chromosome location (bp)

 210477682 - 210679107

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000021826 (version 83.38)

Entrez gene

 1373

UniProt

 P31327 (UniProt - Evidence at protein level)

neXtProt

 NX_P31327

Antibodypedia

 CPS1 antibodies

PROTEIN BROWSER
CPS1-001
CPS1-002
CPS1-003
CPS1-009
CPS1-010
CPS1-011
CPS1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CPS1-001
ENSP00000233072
ENST00000233072
P31327 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
A0A024R454 [Target identity:100%; Query identity:100%]
Carbamoyl-phosphate synthetase 1, mitochondrial, isoform CRA_a
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Enzymes
   ENZYME proteins
   Ligase
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004087 [carbamoyl-phosphate synthase (ammonia) activity]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005980 [glycogen catabolic process]
GO:0006207 ['de novo' pyrimidine nucleobase biosynthetic process]
GO:0006526 [arginine biosynthetic process]
GO:0006541 [glutamine metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0006807 [nitrogen compound metabolic process]
GO:0019240 [citrulline biosynthetic process]
GO:0019433 [triglyceride catabolic process]
GO:0032496 [response to lipopolysaccharide]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042645 [mitochondrial nucleoid]
GO:0044281 [small molecule metabolic process]
GO:0045909 [positive regulation of vasodilation]
GO:0046209 [nitric oxide metabolic process]
GO:0046872 [metal ion binding]
GO:0050667 [homocysteine metabolic process]
GO:0070409 [carbamoyl phosphate biosynthetic process]
GO:0072341 [modified amino acid binding]
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 1500 aa
164.9 kDa 		No 0
CPS1-002
ENSP00000388496
ENST00000417946
C9JTA4 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005737 [cytoplasm]
GO:0006526 [arginine biosynthetic process]
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 121 aa
13 kDa 		No 0
CPS1-003
ENSP00000406136
ENST00000451903
P31327 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004087 [carbamoyl-phosphate synthase (ammonia) activity]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005980 [glycogen catabolic process]
GO:0006207 ['de novo' pyrimidine nucleobase biosynthetic process]
GO:0006526 [arginine biosynthetic process]
GO:0006541 [glutamine metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0006807 [nitrogen compound metabolic process]
GO:0019240 [citrulline biosynthetic process]
GO:0019433 [triglyceride catabolic process]
GO:0032496 [response to lipopolysaccharide]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042645 [mitochondrial nucleoid]
GO:0044281 [small molecule metabolic process]
GO:0045909 [positive regulation of vasodilation]
GO:0046209 [nitric oxide metabolic process]
GO:0046872 [metal ion binding]
GO:0050667 [homocysteine metabolic process]
GO:0070409 [carbamoyl phosphate biosynthetic process]
GO:0072341 [modified amino acid binding]
Show all
 1049 aa
116 kDa 		No 0
CPS1-009
ENSP00000430644
ENST00000523702
E7EWJ3 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005737 [cytoplasm]
GO:0006526 [arginine biosynthetic process]
Show all
 157 aa
17 kDa 		No 0
CPS1-010
ENSP00000430697
ENST00000518043
C9JTA4 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005737 [cytoplasm]
GO:0006526 [arginine biosynthetic process]
Show all
 121 aa
13 kDa 		No 0
CPS1-011
ENSP00000402608
ENST00000430249
P31327 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0001889 [liver development]
GO:0004087 [carbamoyl-phosphate synthase (ammonia) activity]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0004175 [endopeptidase activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005543 [phospholipid binding]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0005980 [glycogen catabolic process]
GO:0006207 ['de novo' pyrimidine nucleobase biosynthetic process]
GO:0006508 [proteolysis]
GO:0006526 [arginine biosynthetic process]
GO:0006541 [glutamine metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0006807 [nitrogen compound metabolic process]
GO:0007494 [midgut development]
GO:0009636 [response to toxic substance]
GO:0010043 [response to zinc ion]
GO:0014075 [response to amine]
GO:0016595 [glutamate binding]
GO:0019240 [citrulline biosynthetic process]
GO:0019433 [triglyceride catabolic process]
GO:0032094 [response to food]
GO:0032403 [protein complex binding]
GO:0032496 [response to lipopolysaccharide]
GO:0033762 [response to glucagon]
GO:0034201 [response to oleic acid]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042493 [response to drug]
GO:0042594 [response to starvation]
GO:0042645 [mitochondrial nucleoid]
GO:0043200 [response to amino acid]
GO:0043234 [protein complex]
GO:0044281 [small molecule metabolic process]
GO:0044344 [cellular response to fibroblast growth factor stimulus]
GO:0045909 [positive regulation of vasodilation]
GO:0046209 [nitric oxide metabolic process]
GO:0046872 [metal ion binding]
GO:0048545 [response to steroid hormone]
GO:0050667 [homocysteine metabolic process]
GO:0051384 [response to glucocorticoid]
GO:0051591 [response to cAMP]
GO:0055081 [anion homeostasis]
GO:0060416 [response to growth hormone]
GO:0070365 [hepatocyte differentiation]
GO:0070409 [carbamoyl phosphate biosynthetic process]
GO:0071320 [cellular response to cAMP]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071400 [cellular response to oleic acid]
GO:0071548 [response to dexamethasone]
GO:0072341 [modified amino acid binding]
Show all
 1506 aa
165.6 kDa 		No 0
CPS1-201
ENSP00000480517
ENST00000619804
Q5R211 [Direct mapping]
Carbamoyl-phosphate synthase [ammonia], mitochondrial; Carbamoylphosphate synthetase I
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0004088 [carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity]
GO:0005737 [cytoplasm]
GO:0006207 ['de novo' pyrimidine nucleobase biosynthetic process]
GO:0006526 [arginine biosynthetic process]
GO:0006541 [glutamine metabolic process]
Show all
 513 aa
55.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.