OXCT2 3-oxoacid CoA-transferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OXCT2provided by HGNC
Official Full Name: 3-oxoacid CoA-transferase 2provided by HGNC
Primary source: HGNC:HGNC:18606
See related: Ensembl:ENSG00000198754 MIM:610289; AllianceGenome:HGNC:18606
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: SCOTT; FKSG25
Summary: The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016]
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (39769523..39771348, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (39638968..39640793, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40235195..40237020, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1423 (e-PCR)
- UniSTS:149619

AL010109 (e-PCR)
- UniSTS:66762

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

Process	Evidence Code	Pubs
involved_in cellular ketone body metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ketone body 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 motile cilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial

Names: 3-oxoacid CoA-transferase 2A; testis-specific succinyl CoA:3-oxoacid CoA-transferase

NP_071403.1

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.

mRNA and Protein(s)

NM_022120.2 → NP_071403.1 succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial precursor

See identical proteins and their annotated locations for NP_071403.1

Status: REVIEWED

Source sequence(s)

AL033527, AY013700

Consensus CDS

CCDS445.1

UniProtKB/Swiss-Prot

B2RBB4, Q5QPK4, Q8NHR1, Q9BYC2, Q9H1I4

UniProtKB/TrEMBL

B3KS89

Related

ENSP00000361914.1, ENST00000327582.5

Conserved Domains (3) summary

COG1788
Location:48 → 274

AtoD; Acyl CoA:acetate/3-ketoacid CoA transferase, alpha subunit [Lipid transport and metabolism]

COG4670
Location:48 → 514

YdiF; Acyl CoA:acetate/3-ketoacid CoA transferase [Lipid transport and metabolism]

cl00339
Location:297 → 505

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 ...