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    HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit [ Homo sapiens (human) ]

    Gene ID: 3030, updated on 9-Jun-2016
    Official Symbol
    HADHAprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4801
    See related
    Ensembl:ENSG00000084754 HPRD:02934; MIM:600890; Vega:OTTHUMG00000096979
    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
    GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA
    Summary
    This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2p23
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (26190635..26244726, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26413504..26467665, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6 Neighboring gene peptidylprolyl isomerase like 1 pseudogene 1 Neighboring gene GRB2 associated regulator of MAPK1 subtype 2 Neighboring gene uncharacterized LOC107985860 Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of trifunctional protein, alpha subunit (HADHA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase alpha subunit (HADHA) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC1728

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-hydroxyacyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    acetyl-CoA C-acetyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enoyl-CoA hydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    fatty-acyl-CoA binding IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain-3-hydroxyacyl-CoA dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain-enoyl-CoA hydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cardiolipin acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial fatty acid beta-oxidation multienzyme complex IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    trifunctional enzyme subunit alpha, mitochondrial
    Names
    3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit
    3-oxoacyl-CoA thiolase
    78 kDa gastrin-binding protein
    gastrin-binding protein
    hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
    long-chain 2-enoyl-CoA hydratase
    long-chain-3-hydroxyacyl-CoA dehydrogenase
    mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit
    mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit
    mitochondrial trifunctional enzyme, alpha subunit
    mitochondrial trifunctional protein, alpha subunit
    NP_000173.2

    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_007121.1 RefSeqGene

      Range
      4896..58986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000182.4NP_000173.2  trifunctional enzyme subunit alpha, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000173.2

      Status: REVIEWED

      Source sequence(s)
      AC011742, AI972144, BC009235, CN264228
      Consensus CDS
      CCDS1721.1
      UniProtKB/Swiss-Prot
      P40939
      UniProtKB/TrEMBL
      E9KL44
      Related
      ENSP00000370023, OTTHUMP00000122457, ENST00000380649, OTTHUMT00000214051
      Conserved Domains (4) summary
      cd06558
      Location:41251
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
      TIGR02441
      Location:27762
      fa_ox_alpha_mit; fatty acid oxidation complex, alpha subunit, mitochondrial
      pfam00725
      Location:544639
      3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
      pfam02737
      Location:363541
      3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      26190635..26244726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      26343424..26397498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)