1. Gene
  2. PDPR - pyruvate dehydrogenase phosphatase regulatory subunit Gene

PDPR - pyruvate dehydrogenase phosphatase regulatory subunit Gene

中文名称:丙酮酸脱氢酶磷酸酶调节亚基

种属: Homo sapiens

同用名: PDP3

基因 ID: 55066 | 基因类型: protein coding

关于 PDPR

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:70,113,626-70,163,427 (from NCBI)

This gene has 11 transcripts (splice variants), 198 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 9.0), brain (RPKM 8.9) and 25 other tissues.

功能概要

丙酮酸脱氢酶复合物 (PDC) 催化丙酮酸的氧化脱羧作用,并将糖酵解与三羧酸循环和脂肪酸合成联系起来。 PDC 的去磷酸化和再激活由丙酮酸脱氢酶磷酸酶 (PDP) 催化。二聚体 PDP 具有催化亚基和调节亚基。该基因编码含有 FAD 的 PDP 调节亚基。编码的蛋白质用于降低 PDP 催化亚基对镁离子的敏感性。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2017 年 1 月]

Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase Phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]

PDPR 基因产物(4)

mRNA Protein Name
NM_001322117.1 NP_001309046.1 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 1 precursor
NM_001322118.1 NP_001309047.1 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 2
NM_001322119.1 NP_001309048.1 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 3
NM_017990.5 NP_060460.4 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 1 precursor

PDPR 蛋白结构

DAO

DAO: FAD dependent oxidoreductase (45 - 402)

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (523 - 736)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (748 - 853)

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  • 879 a.a.
蛋白主名 其他名称

pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial

关联疾病

疾病名称 别名
Anismus
Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia

Spinocerebellar Ataxia 23

Spinocerebellar Ataxia Type 23

SCA23

Ataxia, Spinocerebellar, Type 23

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 PDPR RGD RGD:1308307
Canis familiaris PDPR VGNC VGNC:44390
Bos taurus PDPR VGNC VGNC:32715
Mus musculus PDPR MGD MGI:2442188
Macaca mulatta PDPR VGNC VGNC:75897