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    HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase [ Homo sapiens (human) ]

    Gene ID: 3155, updated on 6-Dec-2016
    Official Symbol
    HMGCLprovided by HGNC
    Official Full Name
    3-hydroxymethyl-3-methylglutaryl-CoA lyaseprovided by HGNC
    Primary source
    HGNC:HGNC:5005
    See related
    Ensembl:ENSG00000117305 MIM:613898; Vega:OTTHUMG00000002963
    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
    HL
    Summary
    The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    1p36.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (23801877..23825459, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24128367..24165110, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376860 Neighboring gene lysophospholipase II Neighboring gene UDP-galactose-4-epimerase Neighboring gene uncharacterized LOC105376861 Neighboring gene fucosidase, alpha-L- 1, tissue

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: GALE

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carboxylic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    fatty-acyl-CoA binding IEA
    Inferred from Electronic Annotation
    more info
     
    hydroxymethylglutaryl-CoA lyase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydroxymethylglutaryl-CoA lyase activity TAS
    Traceable Author Statement
    more info
     
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acyl-CoA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    ketone body biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ketone body biosynthetic process TAS
    Traceable Author Statement
    more info
     
    leucine catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    leucine catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    protein tetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hydroxymethylglutaryl-CoA lyase, mitochondrial
    Names
    3-hydroxy-3-methylglutarate-CoA lyase
    3-hydroxy-3-methylglutaryl-CoA lyase
    3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
    HMG-CoA lyase
    hydroxymethylglutaricaciduria
    mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
    NP_000182.2
    NP_001159531.1

    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_013061.1 RefSeqGene

      Range
      5001..28583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000191.2NP_000182.2  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000182.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI202943, AL031295, AL590728
      Consensus CDS
      CCDS243.1
      UniProtKB/Swiss-Prot
      P35914
      Related
      ENSP00000363614, OTTHUMP00000003005, ENST00000374490, OTTHUMT00000008253
      Conserved Domains (2) summary
      cd07938
      Location:35308
      DRE_TIM_HMGL; 3-hydroxy-3-methylglutaryl-CoA lyase, catalytic TIM barrel domain
      pfam00682
      Location:32306
      HMGL-like; HMGL-like
    2. NM_001166059.1NP_001159531.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159531.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant is missing two consecutive in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC010570, BM981610, CA306929, DA425822, L07033
      Consensus CDS
      CCDS53279.1
      UniProtKB/Swiss-Prot
      P35914
      Related
      ENSP00000389281, OTTHUMP00000223529, ENST00000436439, OTTHUMT00000372570
      Conserved Domains (2) summary
      PLN02746
      Location:17254
      PLN02746; hydroxymethylglutaryl-CoA lyase
      pfam00682
      Location:32235
      HMGL-like; HMGL-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      23801877..23825459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      24241156..24264719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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