ENSG00000171793


Homo sapiens

Features
Gene ID: ENSG00000171793
  
Biological name :CTPS1
  
Synonyms : CTPS1 / CTP synthase 1 / P17812
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p34.2
Gene start: 40979335
Gene end: 41012565
  
Corresponding Affymetrix probe sets: 202613_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361699
Ensembl peptide - ENSP00000361704
NCBI entrez gene - 1503     See in Manteia.
OMIM - 123860
RefSeq - NM_001301237
RefSeq - NM_001905
RefSeq Peptide - NP_001288166
RefSeq Peptide - NP_001896
swissprot - P17812
Ensembl - ENSG00000171793
  
Related genetic diseases (OMIM): 615897 - Immunodeficiency 24, 615897
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)
Ortholog nameID Species
 ctps1aENSDARG00000030700Danio rerio
 ctps1bENSDARG00000098386Danio rerio
 CTPS1ENSGALG00000042967Gallus gallus
 CtpsENSMUSG00000028633Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CTPS2 / Q9NRF8 / CTP synthase 2ENSG0000004723074


Protein motifs (from Interpro)
Interpro ID Name
 IPR004468  CTP synthase
 IPR017456  CTP synthase, N-terminal
 IPR017926  Glutamine amidotransferase
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029062  Class I glutamine amidotransferase-like
 IPR033828  CTP synthase GATase domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006139 nucleobase-containing compound metabolic process TAS
 biological_processGO:0006221 pyrimidine nucleotide biosynthetic process IEA
 biological_processGO:0006241 CTP biosynthetic process IMP
 biological_processGO:0006541 glutamine metabolic process IEA
 biological_processGO:0015949 nucleobase-containing small molecule interconversion TAS
 biological_processGO:0042098 T cell proliferation IMP
 biological_processGO:0042100 B cell proliferation IMP
 biological_processGO:0042493 response to drug TAS
 biological_processGO:0044210 "de novo" CTP biosynthetic process IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003883 CTP synthase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Interconversion of nucleotide di- and triphosphates


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001888 Lymphopenia 
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 HP:0002721 Immunodeficiency 
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 HP:0005364 Severe viral infections, 
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 HP:0008348 Reduced IgG levels, particularly the IgG2 subclass "A reduction in immunoglobulin levels affecting particular the IgG2 subclass." [HPO:curators]
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 HP:0030253 Defective T cell proliferation "A reduced ability of a T cell population to expand by cell division following T cell activation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000171793 CTPS1 / P17812 / CTP synthase 1  / complex






 

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