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    HADH hydroxyacyl-CoA dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 3033, updated on 8-Jul-2021

    Summary

    Official Symbol
    HADHprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4799
    See related
    Ensembl:ENSG00000138796 MIM:601609
    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
    HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
    Summary
    This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in fat (RPKM 86.5), kidney (RPKM 61.3) and 24 other tissues See more
    Orthologs
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    Genomic context

    See HADH in Genome Data Viewer
    Location:
    4q25
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (107989839..108035171)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (108911045..108956327)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sphingomyelin synthase 2 Neighboring gene CYP2U1 and SGMS2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 733, pseudogene Neighboring gene uncharacterized LOC107986298 Neighboring gene uncharacterized LOC107986299 Neighboring gene cytochrome P450 family 2 subfamily U member 1 Neighboring gene lymphoid enhancer binding factor 1 Neighboring gene LEF1 antisense RNA 1 Neighboring gene uncharacterized LOC107986300

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Deficiency of 3-hydroxyacyl-CoA dehydrogenase
    MedGen: C1291230 OMIM: 231530 GeneReviews: Not available
    Compare labs
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available
    Hyperinsulinemic hypoglycemia, familial, 4
    MedGen: C1864948 OMIM: 609975 GeneReviews: Familial Hyperinsulinism
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr regulates mitochondrial respiration and enhances the activity of hydroxyacyl-CoA dehydrogenase (HADH) through PPARbeta/delta 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

    • MGC8392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD+ binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to activity 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
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
    Names
    L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
    medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
    short-chain 3-hydroxyacyl-CoA dehydrogenase
    testis secretory sperm-binding protein Li 203a
    NP_001171634.3
    NP_001317956.2
    NP_005318.6

    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_008156.2 RefSeqGene

      Range
      4931..50392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184705.4NP_001171634.3  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC114733, AC118062
      Consensus CDS
      CCDS54790.1
      Related
      ENSP00000474560.1, ENST00000603302.5
      Conserved Domains (1) summary
      COG1250
      Location:27330
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    2. NM_001331027.2NP_001317956.2  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in isoform (3), with a distinct N-terminus and a missing internal segment, compared to isoform 1.
      Source sequence(s)
      AC118062
      Consensus CDS
      CCDS82943.1
      Related
      ENSP00000486771.1, ENST00000626637.2
      Conserved Domains (1) summary
      COG1250
      Location:48317
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    3. NM_005327.7NP_005318.6  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC114733, AC118062
      Consensus CDS
      CCDS3678.1
      Related
      ENSP00000312288.4, ENST00000309522.8
      Conserved Domains (1) summary
      COG1250
      Location:27313
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]

    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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      107989839..108035171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_002959727.1 RNA Sequence

      Related
      ENST00000640201.2
    2. XR_001741214.2 RNA Sequence

      Related
      ENST00000639146.1
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