ENSG00000021826
Homo sapiens | |
Features
| Gene ID: | ENSG00000021826 | | | | | Biological name : | CPS1 | | | | | Synonyms : | carbamoyl-phosphate synthase 1 / CPS1 / P31327 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | 1 | | Band: | q34 | | Gene start: | 210477682 | | Gene end: | 210679107 | | | | | Corresponding Affymetrix probe sets: | 204920_at (Human Genome U133 Plus 2.0 Array) 217564_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000406136
Ensembl peptide - ENSP00000402608
Ensembl peptide - ENSP00000430644
Ensembl peptide - ENSP00000480517
Ensembl peptide - ENSP00000430697
Ensembl peptide - ENSP00000233072
Ensembl peptide - ENSP00000388496
NCBI entrez gene - 1373
See in Manteia.
OMIM - 608307
RefSeq - XM_011510644
RefSeq - NM_001122633
RefSeq - NM_001122634
RefSeq - NM_001875
RefSeq - XM_011510640
RefSeq - XM_011510641
RefSeq - XM_011510642
RefSeq - XM_011510643
RefSeq Peptide - NP_001866
RefSeq Peptide - NP_001116105
RefSeq Peptide - NP_001116106
swissprot - P31327
swissprot - Q5R211
swissprot - A0A024R454
swissprot - E7EWJ3
swissprot - C9JTA4
Ensembl - ENSG00000021826
| | | | | Related genetic diseases (OMIM): | 237300 - Carbamoylphosphate synthetase I deficiency, 237300 | | | 608307 - {Venoocclusive disease after bone marrow transplantation} | | | 615371 - {Pulmonary hypertension, neonatal, susceptibility to}, 615371 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| CAD / P27708 / carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | ENSG00000084774 | 50 |
Protein motifs (from Interpro)
| IPR002474 | Carbamoyl-phosphate synthase small subunit, N-terminal domain | | IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain | | IPR005480 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain | | IPR005483 | Carbamoyl-phosphate synthase large subunit, CPSase domain | | IPR006274 | Carbamoyl-phosphate synthase, small subunit | | IPR006275 | Carbamoyl-phosphate synthase, large subunit | | IPR011607 | Methylglyoxal synthase-like domain | | IPR011761 | ATP-grasp fold | | IPR013815 | ATP-grasp fold, subdomain 1 | | IPR016185 | Pre-ATP-grasp domain superfamily | | IPR017926 | Glutamine amidotransferase | | IPR029062 | Class I glutamine amidotransferase-like | | IPR035686 | Carbamoyl-phosphate synthase small subunit, GATase1 domain | | IPR036480 | Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily | | IPR036897 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily | | IPR036914 | Methylglyoxal synthase-like domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000737 | Irritability | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| | HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| | HP:0001254 | Lethargy | |
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| | HP:0001259 | Coma | |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0001297 | Stroke | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001950 | Respiratory alkalosis | |
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| | HP:0001951 | Episodic ammonia intoxication | |
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| | HP:0001987 | Hyperammonemia | |
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| | HP:0002013 | Vomiting | |
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| | HP:0002038 | Protein avoidance | |
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| | HP:0002093 | Respiratory insufficiency | |
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| | HP:0002181 | Cerebral edema | "Abnormal accumulation of fluid in the brain." [HPO:curators] |
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| | HP:0003355 | Abnormal urinary amino-acid findings | |
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| | HP:0003572 | Low plasma citrulline | |
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| | HP:0005961 | Arginine deficiency | |
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Interacting proteins (from Reactome)
No match
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