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

    Gene ID: 3032, updated on 27-Jun-2015
    Official Symbol
    HADHBprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4803
    See related
    Ensembl:ENSG00000138029; HPRD:00887; MIM:143450; Vega:OTTHUMG00000096978
    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
    ECHB; MTPB; MSTP029; TP-BETA
    Summary
    This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
    Orthologs
    See HADHB in Epigenomics, MapViewer
    Location:
    2p23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (26244748..26290465)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26467616..26513333)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 Neighboring gene GRB2 associated, regulator of MAPK1-like Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene ethanolaminephosphotransferase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase beta subunit (HADHB) 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

    • MGC87480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-hydroxyacyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    acetyl-CoA C-acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enoyl-CoA hydratase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    long-chain-3-hydroxyacyl-CoA dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiolipin acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    cellular lipid metabolic process 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
     
    glycerophospholipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    trifunctional enzyme subunit beta, mitochondrial
    Names
    trifunctional enzyme subunit beta, mitochondrial
    2-enoyl-Coenzyme A (CoA) hydratase, beta subunit
    3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit
    acetyl-CoA acyltransferase
    beta-ketothiolase
    hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
    NP_000174.1
    NP_001268441.1
    NP_001268442.1

    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_007294.1 RefSeqGene

      Range
      4796..50513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000183.2NP_000174.1  trifunctional enzyme subunit beta, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      BC066963, D16481, DA835045, DB477128
      Consensus CDS
      CCDS1722.1
      UniProtKB/Swiss-Prot
      P55084
      Related
      ENSP00000325136, OTTHUMP00000122456, ENST00000317799, OTTHUMT00000214050
      Conserved Domains (2) summary
      cd00751
      Location:55471
      thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
      TIGR01930
      Location:56470
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases
    2. NM_001281512.1NP_001268441.1  trifunctional enzyme subunit beta, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      D16481, DA067388, DB477128
      Consensus CDS
      CCDS62871.1
      UniProtKB/TrEMBL
      F5GZQ3
      UniProtKB/Swiss-Prot
      P55084
      Related
      ENSP00000444295, ENST00000537713
      Conserved Domains (2) summary
      TIGR01930
      Location:56455
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases
      cd00751
      Location:55456
      thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
    3. NM_001281513.1NP_001268442.1  trifunctional enzyme subunit beta, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001268442.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK304455, D16481, DA835045, DB477128
      Consensus CDS
      CCDS62872.1
      UniProtKB/Swiss-Prot
      P55084
      Related
      ENSP00000442665, ENST00000545822
      Conserved Domains (2) summary
      cd00751
      Location:33449
      thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
      TIGR01930
      Location:34448
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      26244748..26290465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532803.1XP_011531105.1  

      See identical proteins and their annotated locations for XP_011531105.1

      Conserved Domains (2) summary
      cd00751
      Location:55471
      thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
      TIGR01930
      Location:56470
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases
    2. XM_011532804.1XP_011531106.1  

      See identical proteins and their annotated locations for XP_011531106.1

      Conserved Domains (2) summary
      cd00751
      Location:33449
      thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
      TIGR01930
      Location:34448
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      26397520..26443240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)