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MGP005319

Record overview

MGPD IDMGP005319
Gene ID54704
SpeciesHomo sapiens (Human)
Gene Namepyruvate dehyrogenase phosphatase catalytic subunit 1
Gene Symbol PDP1
SynonymsPDH; PDP; PDPC; PPM2C;
Alternate namespyruvate dehyrogenase phosphatase catalytic subunit 1; PDP 1; PDPC 1; [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; protein phosphatase 2C, magnesium-dependent, catalytic subunit; pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase; pyruvate dehydrogenase phosphatase catalytic subunit 1;
Chromosome8
Map Location8q22.1
SummaryPyruvate 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]
OrthologsView orthologs and multiple alignments for PDP1

Proteins

pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
Refseq ID:NP_001155251
Protein GI:239985422
UniProt ID:Q9P0J1
mRNA ID:NM_001161779
Length:562
RefSeq Status:
MCVCPGPRRIGIPVRSSSLPLFSDAMPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTP
QKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLE
IENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATAC
VAHVDGVDLHVANTGDSRAMLGVQEEDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQ
LNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFED
QNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
 
pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2
Refseq ID:NP_001155252
Protein GI:239985426
UniProt ID:Q6P1N1
mRNA ID:NM_001161780
Length:562
RefSeq Status:
Protein sequence is identical to GI:239985422 (mRNA isoform)
 
pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3
Refseq ID:NP_001155253
Protein GI:239985428
UniProt ID:Q9P0J1
mRNA ID:NM_001161781
Length:537
RefSeq Status:
MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTPQKFYLTPPQVNSILKANEYSFKVPE
FDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCACSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYF
SKEASKLYFNSLRTYWQELIDLNTGESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE
EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQLNDNEYTKFIPPNYHTPPYLTAEPE
VTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGGYKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERL
SKMLSLPEELARMYRDDITIIVVQFNSHVVGAYQNQE
 
pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3
Refseq ID:NP_060914
Protein GI:45439339
UniProt ID:Q9P0J1
mRNA ID:NM_018444
Length:537
RefSeq Status:
Protein sequence is identical to GI:239985428 (mRNA isoform)
 
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