CPT1B - carnitine palmitoyltransferase 1B Gene

中文名称：肉碱棕榈酰转移酶 1B

种属: Homo sapiens

同用名: CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1

基因 ID: 1375 | 基因类型: protein coding

关于 CPT1B

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,568,861-50,578,612 (from NCBI)

This gene has 13 transcripts (splice variants), 197 orthologues and 6 paralogues. Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues.

功能概要

由该基因编码的蛋白质是肉碱/胆碱乙酰转移酶家族的成员，是肌肉线粒体中长链脂肪酸 β-氧化途径的速率控制酶。这种酶是长链脂肪酰辅酶 A 从细胞质净运输到线粒体所必需的。已发现该基因编码不同异构体的多个转录变体，通读转录本从包括该基因外显子的上游位点表达。[RefSeq 提供，2009 年 6 月]

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling Enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This Enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]

CPT1B 基因产物(6)

mRNA	Protein	Name
NM_001145134.2	NP_001138606.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform c
NM_001145135.2	NP_001138607.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_001145137.2	NP_001138609.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_004377.4	NP_004368.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152245.3	NP_689451.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152246.3	NP_689452.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a

基因本体论

分子功能
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	IMP IMP: 通过突变表型推断	9344464	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	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	9344464	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

CPT1B 蛋白结构

Carn_acyltransf

0
200
400
600
772 a.a.

蛋白主名

其他名称

carnitine O-palmitoyltransferase 1, muscle isoform

carnitine O-palmitoyltransferase 1B

CPT1B 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	CPT1B	Q92523	TEX44	Homo sapiens	Q53QW1	Y2H Array	32296183
Intra	CPT1B	Q92523	TEX44	Homo sapiens	Q53QW1	Y2H Prey Pooling	32296183
Intra	CPT1B	Q92523	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Array	32296183
Intra	CPT1B	Q92523	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

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

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

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

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03123	CPT1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	CPT1B	VGNC	VGNC:39580
Mus musculus	CPT1B	MGD	MGI:1098297
Felis catus	CPT1B	VGNC	VGNC:61147
Bos taurus	CPT1B	VGNC	VGNC:27677
Macaca mulatta	CPT1B	VGNC	VGNC:71476
Rattus norvegicus	CPT1B	RGD	RGD:2397

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