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

Summary

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: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (41730065..41870425, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (41986435..42126806, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (41730167..41870527, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2324 (e-PCR)
- UniSTS:48162

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

D17S1239 (e-PCR)
- UniSTS:149852

WI-22128 (e-PCR)
- UniSTS:77684

D17S610 (e-PCR)
- UniSTS:46230

G18180 (e-PCR)
- UniSTS:47045

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 ketone body catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ketone body metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ketone body metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
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
located_in mitochondrion	HTP more info	PubMed
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

EC 2.8.3.5

NP_001351228.1

EC 2.8.3.5

NP_001351229.1

EC 2.8.3.5

NP_001351230.1

EC 2.8.3.5

NP_001351231.1

EC 2.8.3.5

NP_001351232.1

EC 2.8.3.5

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

NG_011823.2 RefSeqGene

Range

5000..145360

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...
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 ...
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 ...