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    PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 5161, updated on 2-May-2024

    Summary

    Official Symbol
    PDHA2provided by HGNC
    Official Full Name
    pyruvate dehydrogenase E1 subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:8807
    See related
    Ensembl:ENSG00000163114 MIM:179061; AllianceGenome:HGNC:8807
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDHAL; SPGF70
    Summary
    Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PDHA2 in Genome Data Viewer
    Location:
    4q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (95840093..95841464)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (99155293..99156664)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (96761244..96762615)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21730 Neighboring gene UNC5C antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:96506064-96507263 Neighboring gene ribosomal protein L30 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:96650673-96651268 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:96719717-96720414 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:96759303-96759905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96760761-96761262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96761263-96761762 Neighboring gene NANOG hESC enhancer GRCh37_chr4:96791095-96791601 Neighboring gene RNA, U6 small nuclear 1059, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96862743-96863244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96863245-96863744 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:97023059-97024258 Neighboring gene RNA, U6 small nuclear 34, pseudogene

    Genomic regions, transcripts, and products

    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

    • MGC149517, MGC149518

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyruvate dehydrogenase (NAD+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pyruvate dehydrogenase (acetyl-transferring) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in acetyl-CoA biosynthetic process from pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyruvate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
    Names
    PDHE1-A type II
    pyruvate dehydrogenase (lipoamide) alpha 2
    pyruvate dehydrogenase E1 alpha 2 subunit
    pyruvate dehydrogenase alpha 2
    pyruvate dehydrogenase, E1-alpha polypeptide, testis specific
    NP_005381.1

    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.

    mRNA and Protein(s)

    1. NM_005390.5NP_005381.1  pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor

      See identical proteins and their annotated locations for NP_005381.1

      Status: VALIDATED

      Source sequence(s)
      BC030697
      Consensus CDS
      CCDS3644.1
      UniProtKB/Swiss-Prot
      B2R9Q3, P29803, Q0VDI5, Q4VC02, Q6NXQ1
      Related
      ENSP00000295266.4, ENST00000295266.6
      Conserved Domains (1) summary
      TIGR03182
      Location:56368
      PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      95840093..95841464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      99155293..99156664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)