1. Gene
  2. CPT1A - carnitine palmitoyltransferase 1A Gene

CPT1A - carnitine palmitoyltransferase 1A Gene

中文名称:肉碱棕榈酰转移酶 1A

种属: Homo sapiens

同用名: CPT1; CPT1-L; L-CPT1

基因 ID: 1374 | 基因类型: protein coding

关于 CPT1A

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:68,754,620-68,844,277 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues.

功能概要

长链脂肪酸的线粒体氧化是由肉碱棕榈酰转移酶 I (位于外膜,对洗涤剂不稳定) 和肉碱棕榈酰转移酶 II (位于内膜,对洗涤剂稳定) 的顺序作用启动的) , 连同肉碱-酰基肉碱转位酶。 CPT I 是肉毒碱依赖性线粒体内膜转运中的关键酶,其缺乏会导致脂肪酸 β-氧化速率降低。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key Enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CPT1A 基因产物(2)

mRNA Protein Name
NM_001031847.3 NP_001027017.1 carnitine O-palmitoyltransferase 1, liver isoform isoform 2
NM_001876.4 NP_001867.2 carnitine O-palmitoyltransferase 1, liver isoform isoform 1
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 carnitine O-palmitoyltransferase activity IDA
IDA: 通过直接分析推断
7892212 GOA
enables carnitine O-palmitoyltransferase activity IMP
IMP: 通过突变表型推断
9691089 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
38016475 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carnitine metabolic process IDA
IDA: 通过直接分析推断
11350182 GOA
involved in epithelial cell differentiation IEP
IEP: 通过表达模式推断
21492153 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
11350182 GOA
involved in positive regulation of innate immune response IDA
IDA: 通过直接分析推断
38016475 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial outer membrane IMP
IMP: 通过突变表型推断
14517221 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
11350182 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

CPT1A 蛋白结构

Carn_acyltransf

Carn_acyltransf: Choline/Carnitine o-acyltransferase (170 - 762)

  • 0
  • 200
  • 400
  • 600
  • 773 a.a.
蛋白主名 其他名称

carnitine O-palmitoyltransferase 1, liver isoform

CPT I

CPT1A 抗体

目录号 产品名 应用 反应物种
HY-P81167 CPT1A Antibody WB, ELISA Mouse

关联疾病

疾病名称 别名
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

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt Ii Deficiency, Infantile

Cpt Ii Deficiency

Carnitine Palmitoyltransferase 2 Deficiency

Cpt2

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt-Ii

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase Ii Deficiency

Cpt2 Deficiency

Cptii

Cpt2, Hepatocardiomuscular Form

Cpt2, Severe Infantile Form

Cptii, Hepatocardiomuscular Form

Cptii, Severe Infantile Form

Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

Carnitine Palmitoyltransferase 2 Deficiency, Infantile

CPT2DI

Cpt Deficiency, Hepatic, Type Ii

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Diabetes Mellitus

Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

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
Rattus norvegicus CPT1A RGD RGD:2396
Canis familiaris CPT1A VGNC VGNC:39579
Macaca mulatta CPT1A VGNC VGNC:71475
Bos taurus CPT1A VGNC VGNC:27676
Mus musculus CPT1A MGD MGI:1098296
Felis catus CPT1A VGNC VGNC:61146