2. Gene
  3. OXCT1 - 3-oxoacid CoA-transferase 1 Gene

OXCT1 - 3-oxoacid CoA-transferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：3-氧酸 CoA 转移酶 1

种属: Homo sapiens

同用名: OXCT; SCOT

基因 ID: 5019 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 3-含氧酸 CoA 转移酶基因家族的成员。编码的蛋白质是一种同型二聚体线粒体基质酶，通过催化辅酶 A 从琥珀酰辅酶 A 到乙酰乙酸的可逆转移，在肝外酮体分解代谢中发挥核心作用。该基因的突变与琥珀酰辅酶 A:3-含氧酸辅酶 A 转移酶缺乏症有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables succinyl-CoA:3-oxo-acid CoA-transferase activity IMP
IMP: 通过突变表型推断
8751852 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular ketone body metabolic process IMP
IMP: 通过突变表型推断
9671268 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
11756565 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

OXCT1 蛋白结构

CoA_trans

CoA_trans: Coenzyme A transferase (45 - 271)

CoA_trans

CoA_trans: Coenzyme A transferase (303 - 500)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 520 a.a.
蛋白主名 其他名称

succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial

3-oxoacid CoA transferase

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09886 OXCT1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20460 Oxct1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26969 Oxct1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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