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  2. CRAT - carnitine O-acetyltransferase Gene

CRAT - carnitine O-acetyltransferase Gene

中文名称:肉碱 O-乙酰转移酶

种属: Homo sapiens

同用名: CAT; CAT1; NBIA8

基因 ID: 1384 | 基因类型: protein coding

关于 CRAT

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,094,794-129,110,793 (from NCBI)

This gene has 22 transcripts (splice variants), 228 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 76.6), duodenum (RPKM 25.0) and 23 other tissues.

功能概要

该基因编码肉碱 O-乙酰转移酶,是肉碱酰基转移酶家族的一员,是一种关键的代谢途径酶,在能量稳态和脂肪代谢中起着重要作用。该酶催化酰基从酰基辅酶 A 硫酯到肉碱的可逆转移,并调节酰基辅酶 A/CoA 的比例。它存在于线粒体和过氧化物酶体中。可变剪接导致编码不同亚型的转录变体,这些亚型可能定位于不同的亚细胞区室。[RefSeq 提供,2016 年 10 月]

This gene encodes carnitine O-acetyltransferase, a member of the carnitine Acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]

CRAT 基因产物(7)

mRNA Protein Name
NM_000755.5 NP_000746.3 carnitine O-acetyltransferase isoform 1
NM_001257363.3 NP_001244292.2 carnitine O-acetyltransferase isoform 2
NM_001346546.2 NP_001333475.2 carnitine O-acetyltransferase isoform 3
NM_001346547.2 NP_001333476.2 carnitine O-acetyltransferase isoform 4
NM_001346548.2 NP_001333477.2 carnitine O-acetyltransferase isoform 5
NM_001346549.2 NP_001333478.2 carnitine O-acetyltransferase isoform 6
NM_004003.4 NP_003994.3 carnitine O-acetyltransferase isoform 2
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 acyl-CoA oxidase activity IDA
IDA: 通过直接分析推断
23485643 GOA
enables carnitine O-acetyltransferase activity IDA
IDA: 通过直接分析推断
2351134 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carnitine metabolic process, CoA-linked IDA
IDA: 通过直接分析推断
2351134 GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase IDA
IDA: 通过直接分析推断
23485643 GOA
involved in medium-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
23485643 GOA
involved in short-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
23485643 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
2351134 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
2351134 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

CRAT 蛋白结构

Carn_acyltransf

Carn_acyltransf: Choline/Carnitine o-acyltransferase (34 - 615)

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  • 626 a.a.
蛋白主名 其他名称

carnitine O-acetyltransferase

carnitine acetylase

关联疾病

疾病名称 别名
Neurodegeneration With Brain Iron Accumulation 8

NBIA8

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Carnitine Acetyltransferase Deficiency

Acetyl-Carnitine Deficiency

Deficiency Of Carnitine Acetyltransferase

Overnutrition
Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Apical Myocardial Infarction
Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency

Cpt1a Deficiency

Cpt I Deficiency

Carnitine Palmitoyl Transferase Ia Deficiency

Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

Hepatic Carnitine Palmitoyl Transferase I Deficiency

L-Cpt1 Deficiency

Carnitine Palmitoyltransferase 1a Deficiency

Carnitine Palmitoyltransferase Ia Deficiency

Cpt Deficiency, Hepatic, Type I

Cpt Deficiency, Hepatic, Type Ia

Hepatic Carnitine Palmitoyltransferase 1 Deficiency

L-Cpti Deficiency

Hepatic Cpt Deficiency Type I

Hepatic Cpt1

L-Cpt 1 Deficiency

Cpt 1a Deficiency

Liver Form Of Carnitine Palmitoyltransferase Deficiency

CPT1AD

Cpt-I Deficiency

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Myopathy

Muscular Diseases

Myopathies

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CRAT VGNC VGNC:71483
Rattus norvegicus CRAT RGD RGD:1303031
Felis catus CRAT VGNC VGNC:61159
Mus musculus CRAT MGD MGI:109501
Bos taurus CRAT VGNC VGNC:27687
Canis familiaris CRAT VGNC VGNC:39592