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

PDPR - pyruvate dehydrogenase phosphatase regulatory subunit Gene

Homo sapiens

Also known as PDP3

Gene ID: 55066 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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