PDP1 - pyruvate dehydrogenase phosphatase catalytic subunit 1 Gene

中文名称：丙酮酸脱氢酶磷酸酶催化亚基 1

种属: Homo sapiens

同用名: PDH; PDP; PDPC; PPM2A; PPM2C

基因 ID: 54704 | 基因类型: protein coding

关于 PDP1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:93,916,923-93,926,068 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues, 16 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 28.1), brain (RPKM 24.1) and 24 other tissues.

功能概要

丙酮酸脱氢酶 (E1) 是大型丙酮酸脱氢酶复合物的三个组分 (E1、E2 和 E3) 之一。丙酮酸脱氢酶激酶催化 E1 丝氨酸残基的磷酸化，使 E1 成分失活并抑制复合物。丙酮酸脱氢酶磷酸酶催化 E1 成分的去磷酸化和激活，以逆转丙酮酸脱氢酶激酶的作用。丙酮酸脱氢酶磷酸酶是由催化和调节亚基组成的异二聚体。已报道了两个催化亚基；一种主要在骨骼肌中表达，另一种在肝脏中含量更高。由该基因编码的催化亚基属于前者，属于蛋白磷酸酶 2C (PP2C) 超家族。与丙酮酸脱氢酶复合物和丙酮酸脱氢酶激酶一起，该酶位于线粒体基质中。该基因的突变导致丙酮酸脱氢酶磷酸酶缺乏症。已鉴定出编码不同亚型的多个可变剪接转录本变体。[RefSeq 提供，2009 年 6 月]

Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase Phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein Phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this Enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase Phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

PDP1 基因产物(4)

mRNA	Protein	Name
NM_001161779.2	NP_001155251.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
NM_001161780.2	NP_001155252.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
NM_001161781.2	NP_001155253.1	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3
NM_018444.4	NP_060914.2	pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

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 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IDA IDA: 通过直接分析推断	15554715	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: 通过直接分析推断	20801214	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in peptidyl-threonine dephosphorylation	IDA IDA: 通过直接分析推断	20801214	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	19184109	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

PDP1 蛋白结构

PP2C

0
100
200
300
400
500
537 a.a.

蛋白主名

其他名称

pyruvate dehyrogenase phosphatase catalytic subunit 1

PDP 1

PDP1 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
种属内	PDP1	Q9P0J1	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
种属内	PDP1	Q9P0J1	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
种属内	PDP1	Q9P0J1	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
种属内	PDP1	Q9P0J1	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
种属内	PDP1	Q9P0J1	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
种属内	PDP1	Q9P0J1	INCA1	Homo sapiens	Q0VD86	Y2H Array	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

Pyruvate Dehydrogenase Phosphatase Deficiency

Lactic Acidemia With Pyruvate Dehydrogenase Phosphatase Deficiency	PDHPD
Pdh Phosphatase Deficiency	PDP DEFICIENCY

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Typhoidal Tularemia

Oculoglandular Tularemia

Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency	Sard Deficiency
Sardh Deficiency	SARCOS
Hypersarcosinemia	Sardhd
Demethylation Defect Of N-Methylglycine

Gastrointestinal Tularemia

Enteric Tularemia

Intestinal Tularaemia

Tularemia

Francisella Tularensis Infection	Deerfly Fever
Lemming Fever	Ohara Disease
Pahvant Valley Plague	Rabbit Fever
Yatobyo

Ulceroglandular Tularemia

Pneumonic Tularemia

Pulmonary Tularemia	Bronchopneumonic Tularemia
Pneumonic Tularaemia

Metabolic Acidosis

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Diabetes Mellitus

Diabetes

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

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-RS10285	PDP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	PDP1	VGNC	VGNC:32713
Macaca mulatta	PDP1	VGNC	VGNC:76012
Mus musculus	PDP1	MGD	MGI:2685870
Rattus norvegicus	PDP1	RGD	RGD:620393
Canis familiaris	PDP1	VGNC	VGNC:44388

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PDP1 - pyruvate dehydrogenase phosphatase catalytic subunit 1 Gene

关于 PDP1

功能概要

PDP1 基因产物(4)

PDP1 蛋白结构

PDP1 蛋白互作信息

关联疾病

直系同源

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PDP1 - pyruvate dehydrogenase phosphatase catalytic subunit 1 Gene

关于 PDP1

功能概要

PDP1 基因产物(4)

PDP1 蛋白结构

PDP1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z