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OXCT1 3-oxoacid CoA transferase 1 [ Homo sapiens (human) ]

Gene ID: 5019, updated on 21-Jul-2014
Official Symbol
OXCT1provided by HGNC
Official Full Name
3-oxoacid CoA transferase 1provided by HGNC
Primary source
HGNC:8527
See related
Ensembl:ENSG00000083720; HPRD:02001; MIM:601424; Vega:OTTHUMG00000094783
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OXCT; SCOT
Summary
This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
See OXCT1 in Epigenomics, MapViewer
Location:
5p13.1
Exon count :
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (41730065..41870689, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41730167..41870791, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-specific phospholipase C, X domain containing 3 Neighboring gene t-complex 1 pseudogene 2 Neighboring gene uncharacterized LOC102723752 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene chromosome 5 open reading frame 51

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxoacid CoA-transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
3-oxoacid CoA-transferase activity TAS
Traceable Author Statement
more info
 
protein homodimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular ketone body metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular ketone body metabolic process TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cellular response to acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
ketone body catabolic process TAS
Traceable Author Statement
more info
 
ketone catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
Names
succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
SCOT-s
3-oxoacid CoA-transferase 1
3-oxoacid-CoA transferase 1
succinyl CoA:3-oxoacid CoA transferase
succinyl-CoA:3-ketoacid-CoA transferase
somatic-type succinyl CoA:3-oxoacid CoA-transferase
somatic-type succinyl-CoA:3-oxoacid CoA-transferase
somatic-type succinyl-CoA:3-oxoacid-CoA-transferase
succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial
NP_000427.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011823.1 

    Range
    5001..145625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000436.3NP_000427.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial precursor

    See proteins identical to NP_000427.1

    Status: REVIEWED

    Source sequence(s)
    AC034222, BC009001
    Consensus CDS
    CCDS3937.1
    UniProtKB/Swiss-Prot
    P55809
    Related
    ENSP00000196371, OTTHUMP00000120012, ENST00000196371, OTTHUMT00000211594
    Conserved Domains (3) summary
    COG1788
    Location:41274
    Blast Score: 791
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid metabolism]
    COG4670
    Location:48517
    Blast Score: 370
    COG4670; Acyl CoA:acetate/3-ketoacid CoA transferase [Lipid metabolism]
    cl17247
    Location:300508
    Blast Score: 833
    CoA_trans; Coenzyme A transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    41730065..41870689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_427658.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    41683008..41823471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    41732020..41872646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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