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    HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [ Homo sapiens (human) ]

    Gene ID: 3032, updated on 8-Jul-2021

    Summary

    Official Symbol
    HADHBprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:4803
    See related
    Ensembl:ENSG00000138029 MIM:143450
    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]
    Expression
    Ubiquitous expression in heart (RPKM 140.9), duodenum (RPKM 87.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HADHB in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (26244917..26290465)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26467807..26513333)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes 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 alpha Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene selenoprotein I

    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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC87480

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    trifunctional enzyme subunit beta, mitochondrial
    Names
    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-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
    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
    XP_011531105.1
    XP_024308598.1
    XP_024308599.1

    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_007294.1 RefSeqGene

      Range
      4987..50513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000183.3NP_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
      Consensus CDS
      CCDS1722.1
      UniProtKB/Swiss-Prot
      P55084
      Related
      ENSP00000325136.5, ENST00000317799.10
      Conserved Domains (1) 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 ...
    2. NM_001281512.2NP_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
      Consensus CDS
      CCDS62871.1
      UniProtKB/Swiss-Prot
      P55084
      UniProtKB/TrEMBL
      F5GZQ3
      Related
      ENSP00000444295.1, ENST00000537713.5
      Conserved Domains (2) summary
      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 ...
      TIGR01930
      Location:56455
      AcCoA-C-Actrans; acetyl-CoA acetyltransferases
    3. NM_001281513.2NP_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
      Consensus CDS
      CCDS62872.1
      UniProtKB/Swiss-Prot
      P55084
      Related
      ENSP00000442665.1, ENST00000545822.2
      Conserved Domains (1) 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 ...

    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
      26244917..26290465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452830.1XP_024308598.1  trifunctional enzyme subunit beta, mitochondrial isoform X2

      Conserved Domains (1) summary
      cd00751
      Location:45461
      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 ...
    2. XM_024452831.1XP_024308599.1  trifunctional enzyme subunit beta, mitochondrial isoform X3

      Conserved Domains (1) 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 ...
    3. XM_011532803.1XP_011531105.1  trifunctional enzyme subunit beta, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011531105.1

      UniProtKB/Swiss-Prot
      P55084
      Conserved Domains (1) 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 ...
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