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    GCDH glutaryl-CoA dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 2639, updated on 11-Jul-2021

    Summary

    Official Symbol
    GCDHprovided by HGNC
    Official Full Name
    glutaryl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4189
    See related
    Ensembl:ENSG00000105607 MIM:608801
    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
    GCD; ACAD5
    Summary
    The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
    Expression
    Ubiquitous expression in liver (RPKM 11.6), kidney (RPKM 10.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See GCDH in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12891129..12899999)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13001943..13010813)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene Kruppel like factor 1 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene synaptonemal complex central element protein 2 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene microRNA 5695

    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
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    GeneReviews: Not available
    Glutaric aciduria, type 1
    MedGen: C0268595 OMIM: 231670 GeneReviews: Glutaric Acidemia Type I
    Compare labs
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fatty-acyl-CoA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glutaryl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glutaryl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty-acyl-CoA biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tryptophan metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    glutaryl-CoA dehydrogenase, mitochondrial
    Names
    glutaryl-Coenzyme A dehydrogenase
    truncated GCDH
    truncated glutaryl-CoA dehydrogenase
    NP_000150.1
    NP_039663.1

    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_009292.1 RefSeqGene

      Range
      5001..13840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000159.4NP_000150.1  glutaryl-CoA dehydrogenase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_000150.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a, also known as the long isoform).
      Source sequence(s)
      AK290407, BM855466, U69141
      Consensus CDS
      CCDS12286.1
      UniProtKB/Swiss-Prot
      Q92947
      UniProtKB/TrEMBL
      A0A024R7F9
      Related
      ENSP00000222214.4, ENST00000222214.10
      Conserved Domains (1) summary
      cd01151
      Location:48434
      GCD; Glutaryl-CoA dehydrogenase
    2. NM_013976.5NP_039663.1  glutaryl-CoA dehydrogenase, mitochondrial isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment that results in a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (b, also known as the short isoform) has a distinct and shorter C-terminus, compared to isoform a. This variant lacks publicly available transcript support but is supported by data in PubMed ID:8541831.
      Source sequence(s)
      AK290407, U69141
      UniProtKB/Swiss-Prot
      Q92947
      Conserved Domains (2) summary
      cd01151
      Location:48414
      GCD; Glutaryl-CoA dehydrogenase
      COG1960
      Location:60414
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    RNA

    1. NR_102316.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region but contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK296446, BM855466, DA286320, U69141
      Related
      ENST00000590530.5
    2. NR_102317.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an additional internal segment in the 5' region, and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK300841, BM855466, DA286320, U69141
      Related
      ENST00000585420.5

    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_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      12891129..12899999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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