OXCT1 - 3-oxoacid CoA-transferase 1 Gene

Also Known as OXCT; SCOT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5019

About OXCT1

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,730,065-41,870,425 (from NCBI)

This gene has 8 transcripts (splice variants), 237 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in heart (RPKM 90.1), brain (RPKM 37.8) and 19 other tissues.

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]

OXCT1 Products (6)

mRNA	Protein	Name
NM_000436.4	NP_000427.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor
NM_001364299.2	NP_001351228.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 precursor
NM_001364300.2	NP_001351229.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 2
NM_001364301.2	NP_001351230.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 4 precursor
NM_001364302.2	NP_001351231.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 5 precursor
NM_001364303.2	NP_001351232.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables succinyl-CoA:3-oxo-acid CoA-transferase activity	IMP IMP: Inferred from mutant phenotype	8751852	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular ketone body metabolic process	IMP IMP: Inferred from mutant phenotype	9671268	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	11756565	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OXCT1 Protein Structure

CoA_trans

0
100
200
300
400
520 a.a.

Protein Preferred Names	Protein Names
succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial	3-oxoacid CoA transferase

OXCT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811242	SCOT Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Scot Deficiency Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency Succinyl-Coa Acetoacetate Transferase Deficiency Ketoacidosis Due To Scot Deficiency Succinyl-Coa:Acetoacetate Transferase Deficiency SCOTD Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 3-Oxoacid Coa Transferase Deficiency Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency Succinyl-Coa 3-Oxoacid Transferase Deficiency Oxct1 Deficiency Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency Deficiency Of 3-Oxoacid Coa-Transferase
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency MCT1D Ketosis
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	OPA10 Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures Optic Atrophy 10 Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
Cardiomyopathy, Dilated, 1gg	Dilated Cardiomyopathy 1gg CMD1GG Cardiomyopathy, Dilated 1gg Cardiomyopathy, Dilated, Type 1gg
Gastric Antral Vascular Ectasia	Watermelon Stomach Gave
Nonobstructive Coronary Artery Disease	Non-Cad Non-Obstructive Coronary Artery Disease
Diffuse Scleroderma	Diffuse Systemic Sclerosis Systemic Sclerosis, Diffuse Scleroderma, Diffuse Systemic Scleroderma Progressive System Sclerosis
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Limited Scleroderma	Limited Cutaneous Systemic Sclerosis Limited Systemic Sclerosis Systemic Sclerosis Sine Scleroderma Crest Syndrome Limited Cutaneous Systemic Scleroderma Scleroderma, Limited Systemic Sclerosis, Limited Progressive Systemic Sclerosis Sine Scleroderma Scleroderma, Sine Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-178018	D574-0246		99.95%	Unkown
HY-RS09886	OXCT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20460	Oxct1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26969	Oxct1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	OXCT1	VGNC	VGNC:32508
Canis familiaris	OXCT1	VGNC	VGNC:51916
Mus musculus	OXCT1	MGD	MGI:1914291
Macaca mulatta	OXCT1	VGNC	VGNC:84468
Felis catus	OXCT1	VGNC	VGNC:68666
Rattus norvegicus	OXCT1	RGD	RGD:1584008
Others	OXCT1	NCBI