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

Gene ID: 5019, updated on 7-Apr-2024

Summary

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Official Symbol
OXCT1provided by HGNC
Official Full Name
3-oxoacid CoA-transferase 1provided by HGNC
Primary source
HGNC:HGNC:8527
See related
Ensembl:ENSG00000083720 MIM:601424; AllianceGenome:HGNC:8527
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]
Expression
Broad expression in heart (RPKM 90.1), brain (RPKM 37.8) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
5p13.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (41730065..41870425, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41986435..42126806, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41730167..41870527, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 3 Neighboring gene uncharacterized LOC105374740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:41510229-41511057 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:41587798-41587931 Neighboring gene t-complex 1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:41717601-41717785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22505 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:41775532-41776072 Neighboring gene Sharpr-MPRA regulatory region 14195 Neighboring gene Sharpr-MPRA regulatory region 14906 Neighboring gene NANOG hESC enhancer GRCh37_chr5:41822074-41822575 Neighboring gene uncharacterized LOC102723752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22507 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22508 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:41904130-41904676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22510 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene RAB7A interacting MON1-CCZ1 complex subunit 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease. GrĂĽnert SC, et al. Biochimie, 2021 Apr. PMID 33596448
  2. A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Shafqat N, et al. J Inherit Metab Dis, 2013 Nov. PMID 23420214, Free PMC Article
  3. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Fukao T, et al. Biochim Biophys Acta, 2011 May. PMID 21296660
  4. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. Fukao T, et al. J Inherit Metab Dis, 2010 Dec. PMID 20652411
  5. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. Orii KE, et al. Tohoku J Exp Med, 2008 Jul. PMID 18648183

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.
    Title: OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.
  2. Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
    Title: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
  3. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
    Title: Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
  4. Crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects.
    Title: A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
  5. Case Report: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidotic crises and no apparent symptoms between them.
    Title: A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
  6. Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
    Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
  7. Missense Mutations in succinyl-CoA:3-ketoacid CoA transferase is associated with Ketoacidosis.
    Title: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
    Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
  10. The activities of pyruvate carboxylase (SCOT) were decreased by 65% in pancreatic islets of patients with type 2 diabetes.
    Title: Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Succinyl-CoA acetoacetate transferase deficiency
MedGen: C0342792 OMIM: 245050 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that OXCT1 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with OXCT1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables succinyl-CoA:3-oxo-acid CoA-transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables succinyl-CoA:3-oxo-acid CoA-transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular ketone body metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular ketone body metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ketone body catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ketone catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
Names
3-oxoacid CoA transferase
SCOT-s
epididymis secretory sperm binding protein
somatic-type succinyl-CoA:3-oxoacid CoA-transferase
succinyl CoA:3-oxoacid CoA transferase
succinyl-CoA:3-ketoacid-CoA transferase
NP_000427.1
NP_001351228.1
NP_001351229.1
NP_001351230.1
NP_001351231.1
NP_001351232.1

NCBI Reference Sequences (RefSeq)

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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_011823.2 RefSeqGene

    Range
    5000..145360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000436.4 → NP_000427.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor

    See identical proteins and their annotated locations for NP_000427.1

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Consensus CDS
    CCDS3937.1
    UniProtKB/Swiss-Prot
    B2R5V2, B7Z528, P55809
    UniProtKB/TrEMBL
    A0A024R040, Q6IAV5
    Related
    ENSP00000196371.5, ENST00000196371.10
    Conserved Domains (2) summary
    COG1788
    Location:41 → 274
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:300 → 508
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

  2. NM_001364299.2 → NP_001351228.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    UniProtKB/TrEMBL
    Q6IAV5
    Conserved Domains (2) summary
    COG1788
    Location:41 → 281
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:307 → 515
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

  3. NM_001364300.2 → NP_001351229.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    UniProtKB/TrEMBL
    Q6IAV5
    Conserved Domains (2) summary
    COG1788
    Location:48 → 281
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:307 → 515
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

  4. NM_001364301.2 → NP_001351230.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    UniProtKB/TrEMBL
    Q6IAV5
    Conserved Domains (2) summary
    COG1788
    Location:41 → 272
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:298 → 506
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

  5. NM_001364302.2 → NP_001351231.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    UniProtKB/TrEMBL
    Q6IAV5
    Conserved Domains (2) summary
    COG1788
    Location:41 → 274
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:300 → 478
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

  6. NM_001364303.2 → NP_001351232.1  succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946
    Consensus CDS
    CCDS93708.1
    UniProtKB/TrEMBL
    B7Z609, E9PDW2
    Related
    ENSP00000425348.1, ENST00000509987.1
    Conserved Domains (2) summary
    COG1788
    Location:3 → 88
    AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]
    cl00339
    Location:114 → 322
    SugarP_isomerase; Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose ...

RNA

  1. NR_157114.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008817, AC034222, AC114946

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    41730065..41870425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    41986435..42126806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55809.1 GenPept UniProtKB/Swiss-Prot:P55809

Gene LinkOut

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