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Tclin
CPS1
Carbamoyl-phosphate synthase [ammonia], mitochondrial

Protein Classes
Protein Summary
Description
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000233072
  • ENSP00000233072
  • ENSG00000021826
  • ENST00000430249
  • ENSP00000402608
  • ENST00000451903
  • ENSP00000406136

Symbol
  • PHN
  • CPSASE1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
1
protein domain
1
biological process
0.98
disease
0.8
cellular component
0.79


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.55   (req: < 5)
Gene RIFs: 42   (req: <= 3)
Antibodies: 402   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.55   (req: >= 5)
Gene RIFs: 42   (req: > 3)
Antibodies: 402   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 36
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 7
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
carglumic acid
Rendered image for carglumic acid
GWAS Traits (48)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
amino acid measurement
4
5
6
98.8
glomerular filtration rate
10
5
11
13.6
98.4
serum metabolite measurement
5
4
5
96.4
glycine measurement
4
2
4
96.2
blood metabolite measurement
3
3
11
96.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
amino acid measurement
6
98.8
glomerular filtration rate
11
13.6
98.4
serum metabolite measurement
5
96.4
glycine measurement
4
96.2
blood metabolite measurement
11
96.1
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
carbamoyl-phosphate synthase 1
VGNC:147
738670
Macaque
carbamoyl-phosphate synthase 1
711806
Mouse
MGI:891996
227231
Rat
RGD:2395
497840
Dog
carbamoyl-phosphate synthase 1
VGNC:39572
488506
Species
Name
OMA
EggNOG
Inparanoid
Chimp
carbamoyl-phosphate synthase 1
Macaque
carbamoyl-phosphate synthase 1
Mouse
Rat
Dog
carbamoyl-phosphate synthase 1
Protein Structure (12 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P31327-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 12
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (20)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Reactome
Urea cycle
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of amino acids and derivatives
Urea cycle
Gene Ontology Terms (42)
Items per page:
10
1 – 10 of 11
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Mutant Phenotype (IMP)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (118)
1 – 10 of 118
LMO2
Tbio
Novelty:  0.0038279
p_int:  0.997913572
p_ni:  0.002086423
p_wrong:  5e-9
Data Source:  BioPlex
LMO1
Tbio
Novelty:  0.01670419
p_int:  0.995394754
p_ni:  0.004605246
Data Source:  BioPlex
DEFB121
Tdark
Novelty:  2.72797456
p_int:  0.989052929
p_ni:  0.010947071
Data Source:  BioPlex
BPNT1
Tbio
Family:  Enzyme
Novelty:  0.1114547
p_int:  0.985180257
p_ni:  0.014819743
Data Source:  BioPlex
YBEY
Tdark
Family:  Enzyme
Novelty:  0.02778029
p_int:  0.974176752
p_ni:  0.025823248
Data Source:  BioPlex
KIRREL2
Tbio
Novelty:  0.0349023
p_int:  0.965352265
p_ni:  0.034647735
Score:  0.209
Data Source:  BioPlex,STRINGDB
GLB1L3
Tdark
Family:  Enzyme
Novelty:  1.00833616
p_int:  0.962071607
p_ni:  0.037928393
Data Source:  BioPlex
NDUFS7
Tclin
Family:  Enzyme
Novelty:  0.01562198
p_int:  0.950490828
p_ni:  0.049509172
Data Source:  BioPlex
ACSM5
Tbio
Family:  Enzyme
Novelty:  0.11562771
p_int:  0.925337111
p_ni:  0.074662889
Score:  0.244
Data Source:  BioPlex,STRINGDB
ARHGEF26
Tbio
Novelty:  0.09349583
p_int:  0.919778685
p_ni:  0.080221315
Score:  0.211
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  115.55

PubMed score by year
PubTator Score  393.83

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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