ENSG00000083720


Homo sapiens

Features
Gene ID: ENSG00000083720
  
Biological name :OXCT1
  
Synonyms : 3-oxoacid CoA-transferase 1 / OXCT1 / P55809
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p13.1
Gene start: 41730065
Gene end: 41870519
  
Corresponding Affymetrix probe sets: 202780_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000196371
Ensembl peptide - ENSP00000425348
Ensembl peptide - ENSP00000423144
Ensembl peptide - ENSP00000421143
NCBI entrez gene - 5019     See in Manteia.
OMIM - 601424
RefSeq - NM_000436
RefSeq - XM_017009494
RefSeq Peptide - NP_000427
swissprot - E9PDW2
swissprot - P55809
swissprot - A0A024R040
Ensembl - ENSG00000083720
  
Related genetic diseases (OMIM): 245050 - Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
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
 oxct1aENSDARG00000013063Danio rerio
 oxct1bENSDARG00000054319Danio rerio
 OXCT1ENSGALG00000014846Gallus gallus
 Oxct1ENSMUSG00000022186Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OXCT2 / Q9BYC2 / 3-oxoacid CoA-transferase 2ENSG0000019875474


Protein motifs (from Interpro)
Interpro ID Name
 IPR004163  Coenzyme A transferase binding site
 IPR004164  Coenzyme A transferase active site
 IPR004165  Coenzyme A transferase family I
 IPR012791  3-oxoacid CoA-transferase, subunit B
 IPR012792  3-oxoacid CoA-transferase, subunit A
 IPR014388  3-oxoacid CoA-transferase
 IPR037171  NagB/RpiA transferase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0042182 ketone catabolic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0046950 cellular ketone body metabolic process IMP
 biological_processGO:0046952 ketone body catabolic process TAS
 biological_processGO:0060612 adipose tissue development IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion NAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0008260 3-oxoacid CoA-transferase activity TAS
 molecular_functionGO:0008410 CoA-transferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity NAS


Pathways (from Reactome)
Pathway description
Utilization of Ketone Bodies


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:0002013 Vomiting 
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 HP:0002789 Tachypnea 
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 HP:0002919 Ketonuria 
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 HP:0005974 Ketoacidosis, episodic 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000083720 OXCT1 / P55809 / 3-oxoacid CoA-transferase 1  / complex






 

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