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

    Gene ID: 54704, updated on 3-Dec-2024

    Summary

    Official Symbol
    PDP1provided by HGNC
    Official Full Name
    pyruvate dehydrogenase phosphatase catalytic subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:9279
    See related
    Ensembl:ENSG00000164951 MIM:605993; AllianceGenome:HGNC:9279
    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; PPM2A; PPM2C; PDPC 1
    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]
    Expression
    Broad expression in adrenal (RPKM 28.1), brain (RPKM 24.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDP1 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (93916923..93926068)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95042005..95051150)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94929151..94938296)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MYL12A pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:94886986-94887486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:94887487-94887987 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:94892037-94893236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19361 Neighboring gene MIR378D2 host gene Neighboring gene microRNA 378d-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19362 Neighboring gene proteasome subunit alpha 2 pseudogene 2 Neighboring gene ribosomal protein L34 pseudogene 18

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32517, FLJ56179, MGC119646

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in peptidyl-threonine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of pyruvate dehydrogenase (lipoamide) phosphatase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    pyruvate dehyrogenase phosphatase catalytic subunit 1
    Names
    [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
    protein phosphatase 2C, magnesium-dependent, catalytic subunit
    protein phosphatase, Mg2+/Mn2+ dependent 2A
    pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase
    NP_001155251.1
    NP_001155252.1
    NP_001155253.1
    NP_060914.2
    XP_016869077.1
    XP_047277860.1
    XP_047277861.1
    XP_047277862.1
    XP_047277863.1
    XP_047277864.1
    XP_047277865.1
    XP_054216692.1
    XP_054216693.1
    XP_054216694.1
    XP_054216695.1
    XP_054216696.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 RefSeqGene

      Range
      4990..14135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for 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)
      AC084346, AK126862, BC098343, BX099681, DA769567
      Consensus CDS
      CCDS55262.1
      UniProtKB/TrEMBL
      B4DYX8
      Related
      ENSP00000379503.3, ENST00000396200.3
      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_001161780.2NP_001155252.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 2

      See identical proteins and their annotated locations for 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)
      AC084346, AK126862, BC064978, BX099681, DA507397
      Consensus CDS
      CCDS55262.1
      UniProtKB/TrEMBL
      B4DYX8
      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_001161781.2NP_001155253.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

      See identical proteins and their annotated locations for 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)
      AC084346, AK126862, BX099681, DA240240
      Consensus CDS
      CCDS6259.1
      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
      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_018444.4NP_060914.2  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform 3

      See identical proteins and their annotated locations for 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/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
      Related
      ENSP00000297598.4, ENST00000297598.5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      93916923..93926068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421905.1XP_047277861.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X2

      UniProtKB/TrEMBL
      B3KPZ7
    2. XM_047421907.1XP_047277863.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
      Related
      ENSP00000428317.1, ENST00000520728.5
    3. XM_047421906.1XP_047277862.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
    4. XM_017013588.2XP_016869077.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X1

      UniProtKB/TrEMBL
      B4DYX8
    5. XM_047421909.1XP_047277865.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
    6. XM_047421904.1XP_047277860.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X2

      UniProtKB/TrEMBL
      B3KPZ7
    7. XM_047421908.1XP_047277864.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
      Related
      ENSP00000430380.1, ENST00000517764.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95042005..95051150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360721.1XP_054216696.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
    2. XM_054360718.1XP_054216693.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X2

      UniProtKB/TrEMBL
      B3KPZ7
    3. XM_054360719.1XP_054216694.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
    4. XM_054360720.1XP_054216695.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      B3KX71, J3KPU0, Q5U5K1, Q9P0J1
      UniProtKB/TrEMBL
      B3KPZ7
    5. XM_054360717.1XP_054216692.1  pyruvate dehyrogenase phosphatase catalytic subunit 1 isoform X1

      UniProtKB/TrEMBL
      B4DYX8

    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.