AutismKB 2.0

Annotation Details for CPS1


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Basic Information Top
Gene Symbol:CPS1 ( CPSASE1 )
Gene Full Name: carbamoyl-phosphate synthase 1, mitochondrial
Band: 2q34
Quick LinksEntrez ID:1373; OMIM: 608307; Uniprot ID:CPSM_HUMAN; ENSEMBL ID: ENSG00000021826; HGNC ID: 2323
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730IDA-nucleolus-
GO:0005743IEA-mitochondrial inner membrane-
GO:0005759TAS-mitochondrial matrix-
GO:0042645IDA-mitochondrial nucleoid18063578
GO:0043234IEA-protein complex-
GO ID Evidence Qualifier GO_term References
GO:0004087EXP-carbamoyl-phosphate synthase (ammonia) activity6249820
GO:0004087IMP-carbamoyl-phosphate synthase (ammonia) activity8486760
GO:0004088IEA-carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity-
GO:0004175IEA-endopeptidase activity-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding12620389
GO:0005524IEA-ATP binding-
GO:0005543IEA-phospholipid binding-
GO:0016595IEA-glutamate binding-
GO:0032403IEA-protein complex binding-
GO:0072341IDA-modified amino acid binding20031578
GO ID Evidence Qualifier GO_term References
GO:0000050NAS-urea cycle1840546
GO:0000050TAS-urea cycle-
GO:0006207IEA-'de novo' pyrimidine nucleobase biosynthetic process-
GO:0006508IEA-proteolysis-
GO:0006541IEA-glutamine metabolic process-
GO:0007494IEA-midgut development-
GO:0009636IEA-response to toxic substance-
GO:0010043IEA-response to zinc ion-
GO:0014075IEA-response to amine-
GO:0019240NAS-citrulline biosynthetic process14718356
GO:0019433IMP-triglyceride catabolic process9711878
GO:0032094IEA-response to food-
GO:0032496IDA-response to lipopolysaccharide15897806
GO:0042311IMP-vasodilation14718356
GO:0042493IEA-response to drug-
GO:0042594IEA-response to starvation-
GO:0043200IEA-response to amino acid-
GO:0044344IEA-cellular response to fibroblast growth factor stimulus-
GO:0046209IMP-nitric oxide metabolic process14718356
GO:0050667IDA-homocysteine metabolic process20031578
GO:0055081IEA-anion homeostasis-
GO:0060416IEA-response to growth hormone-
GO:0070365IEA-hepatocyte differentiation-
GO:0070409IMP-carbamoyl phosphate biosynthetic process7416778
GO:0071320IEA-cellular response to cAMP-
GO:0071377IEA-cellular response to glucagon stimulus-
GO:0071400IEA-cellular response to oleic acid-
GO:0071548IEA-response to dexamethasone-
GO:1903718IMP-cellular response to ammonia21120950
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:891996
  • Data Attributes: MGI curated and HomoloGene calculated
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018