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    HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [ Homo sapiens (human) ]

    Gene ID: 3030, updated on 8-Jul-2021

    Summary

    Official Symbol
    HADHAprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4801
    See related
    Ensembl:ENSG00000084754 MIM:600890
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 119.6), small intestine (RPKM 107.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See HADHA in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (26190635..26244632, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26413504..26467500, 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 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with HADHA PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1728

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables NAD+ binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables acetyl-CoA C-acetyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enoyl-CoA hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables fatty-acyl-CoA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables long-chain-enoyl-CoA hydratase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cardiolipin acyl-chain remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    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
    monolysocardiolipin acyltransferase
    NP_000173.2

    NCBI Reference Sequences (RefSeq)

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    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_007121.2 RefSeqGene

      Range
      4990..58987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_747

    mRNA and Protein(s)

    1. NM_000182.5NP_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
      ENSP00000370023.3, ENST00000380649.8
      Conserved Domains (1) summary
      TIGR02441
      Location:27762
      fa_ox_alpha_mit; fatty acid oxidation complex, alpha subunit, mitochondrial

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      26190635..26244632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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