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PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 [ Homo sapiens (human) ]

Gene ID: 54704, updated on 7-Dec-2014
Official Symbol
PDP1provided by HGNC
Official Full Name
pyruvate dehyrogenase phosphatase catalytic subunit 1provided by HGNC
Primary source
HGNC:HGNC:9279
See related
Ensembl:ENSG00000164951; HPRD:16185; MIM:605993; Vega:OTTHUMG00000164356
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDH; PDP; PDPC; PPM2C
Summary
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]
See PDP1 in Epigenomics, MapViewer
Location:
8q22.1
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (93916855..93926068)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94929083..94938296)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene myosin, light chain 12A, regulatory, non-sarcomeric pseudogene Neighboring gene microRNA 378d-2 Neighboring gene proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 Neighboring gene ribosomal protein L34 pseudogene 18

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Pyruvate metabolism, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
  • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
  • Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystem (from REACTOME)
    Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystemThe mitochondrial pyruvate dehydrogenase (PDH) complex catalyzes the oxidative decarboxylation of pyruvate, linking glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. PDH inactivati...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ32517, FLJ56179, MGC119646

Gene Ontology Provided by GOA

Function Evidence Code Pubs
[pyruvate dehydrogenase (lipoamide)] phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular metabolic process TAS
Traceable Author Statement
more info
 
peptidyl-threonine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
pyruvate dehyrogenase phosphatase catalytic subunit 1
Names
pyruvate dehyrogenase phosphatase catalytic subunit 1
PDP 1
PDPC 1
pyruvate dehydrogenase phosphatase catalytic subunit 1
pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase
protein phosphatase 2C, magnesium-dependent, catalytic subunit
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
NP_001155251.1
NP_001155252.1
NP_001155253.1
NP_060914.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012233.1 

    Range
    4922..14135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161779.1NP_001155251.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2

    See proteins identical to NP_001155251.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the longest transcript. This variant and variant 3 encode the same isoform (2).
    Source sequence(s)
    AK126862, BC098343, BX099681, DA769567
    Consensus CDS
    CCDS55262.1
    UniProtKB/Swiss-Prot
    Q9P0J1
    Related
    ENSP00000379503, ENST00000396200
    Conserved Domains (1) summary
    cd00143
    Location:134550
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  2. NM_001161780.1NP_001155252.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2

    See proteins identical to NP_001155252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment in the 5' UTR, compared to variant 2. Variants 2 and 3 encode the same isoform 2.
    Source sequence(s)
    AK126862, BC064978, BX099681, DA507397
    Consensus CDS
    CCDS55262.1
    UniProtKB/TrEMBL
    Q6P1N1
    UniProtKB/Swiss-Prot
    Q9P0J1
    Conserved Domains (1) summary
    cd00143
    Location:134550
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  3. NM_001161781.1NP_001155253.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

    See proteins identical to NP_001155253.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon, compared to variant 2. The difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus, compared to isoform 2.
    Source sequence(s)
    AK126862, BX099681, DA240240
    Consensus CDS
    CCDS6259.1
    UniProtKB/TrEMBL
    A0A024R9C0
    UniProtKB/Swiss-Prot
    Q9P0J1
    Conserved Domains (1) summary
    cd00143
    Location:109525
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  4. NM_018444.3NP_060914.2  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

    See proteins identical to NP_060914.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal segment, compared to variant 2. The difference causes translation initiation at a downstream AUG and results in an isoform (3) with a shorter N-terminus, compared to isoform 2.
    Source sequence(s)
    AK126862, BC047619, BX099681, DB084539
    Consensus CDS
    CCDS6259.1
    UniProtKB/TrEMBL
    A0A024R9C0
    UniProtKB/Swiss-Prot
    Q9P0J1
    Related
    ENSP00000297598, OTTHUMP00000226523, ENST00000297598, OTTHUMT00000378415
    Conserved Domains (1) summary
    cd00143
    Location:109525
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    93916855..93926068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250986.1XP_005251043.1  

    See proteins identical to XP_005251043.1

    Conserved Domains (1) summary
    cd00143
    Location:168584
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
  2. XM_006716592.1XP_006716655.1  

    Conserved Domains (1) summary
    cd00143
    Location:127543
    PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    94969362..94978572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    90137033..90146245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001161778.1: Suppressed sequence

    Description
    NM_001161778.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.