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    Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase [ Mus musculus (house mouse) ]

    Gene ID: 15356, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hmgclprovided by MGI
    Official Full Name
    3-hydroxy-3-methylglutaryl-Coenzyme A lyaseprovided by MGI
    Primary source
    MGI:MGI:96158
    See related
    Ensembl:ENSMUSG00000028672 AllianceGenome:MGI:96158
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HL
    Summary
    Predicted to enable several functions, including anion binding activity; hydroxymethylglutaryl-CoA lyase activity; and metal ion binding activity. Acts upstream of or within mitochondrion organization. Located in mitochondrion. Is expressed in alimentary system; cranium; and liver. Human ortholog(s) of this gene implicated in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and amino acid metabolic disorder. Orthologous to human HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 37.8), liver E18 (RPKM 25.7) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hmgcl in Genome Data Viewer
    Location:
    4 D3; 4 68.14 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (135673776..135689926)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (135946448..135962668)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11738 Neighboring gene STARR-positive B cell enhancer ABC_E8000 Neighboring gene STARR-positive B cell enhancer ABC_E4684 Neighboring gene cannabinoid receptor 2 Neighboring gene STARR-seq mESC enhancer starr_11739 Neighboring gene STARR-positive B cell enhancer ABC_E4685 Neighboring gene fucosidase, alpha-L- 1, tissue Neighboring gene STARR-positive B cell enhancer ABC_E4686 Neighboring gene STARR-positive B cell enhancer ABC_E3529 Neighboring gene galactose-4-epimerase, UDP Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:135528566-135528675 Neighboring gene lysophospholipase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A 3-hydroxy-3-methylglutaryl-CoA lyase gene in the photosynthetic bacterium Rhodospirillum rubrum. Baltscheffsky M, et al. Biochim Biophys Acta, 1997 Jan 4. PMID 9003443
    2. 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. Wang SP, et al. Genomics, 1996 Apr 1. PMID 8617516
    3. A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. Gauthier N, et al. PLoS One, 2013. PMID 23861731, Free PMC Article
    4. 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice. Wang SP, et al. Hum Mol Genet, 1998 Dec. PMID 9817922
    5. A Class of Reactive Acyl-CoA Species Reveals the Non-enzymatic Origins of Protein Acylation. Wagner GR, et al. Cell Metab, 2017 Apr 4. PMID 28380375, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation by IKKbeta Promotes the Degradation of HMGCL via NEDD4 in Lung Cancer.
      Title: Phosphorylation by IKKβ Promotes the Degradation of HMGCL via NEDD4 in Lung Cancer.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carboxylic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables fatty-acyl-CoA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydroxymethylglutaryl-CoA lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydroxymethylglutaryl-CoA lyase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydroxymethylglutaryl-CoA lyase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural molecule activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acyl-CoA metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryo development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ketone body biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ketone body biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ketone body biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    hydroxymethylglutaryl-CoA lyase, mitochondrial
    Names
    3-hydroxy-3-methylglutarate-CoA lyase
    HMG-CoA lyase
    NP_001344458.1
    NP_001344459.1
    NP_001407956.1
    NP_001407957.1
    NP_001407958.1
    NP_001407959.1
    NP_001407960.1
    NP_001407962.1
    NP_001407963.1
    NP_032280.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001357529.2 → NP_001344458.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
      Conserved Domains (1) summary
      PLN02746
      Location:4 → 300
      PLN02746; hydroxymethylglutaryl-CoA lyase

    2. NM_001357530.2 → NP_001344459.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL672076
      Conserved Domains (1) summary
      PLN02746
      Location:16 → 256
      PLN02746; hydroxymethylglutaryl-CoA lyase

    3. NM_001421027.1 → NP_001407956.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    4. NM_001421028.1 → NP_001407957.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    5. NM_001421029.1 → NP_001407958.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    6. NM_001421030.1 → NP_001407959.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    7. NM_001421031.1 → NP_001407960.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    8. NM_001421033.1 → NP_001407962.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    9. NM_001421034.1 → NP_001407963.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2

    10. NM_008254.4 → NP_032280.2  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_032280.2

      Status: VALIDATED

      Source sequence(s)
      AL672076
      Consensus CDS
      CCDS18795.1
      UniProtKB/Swiss-Prot
      P38060, Q8QZS6
      UniProtKB/TrEMBL
      Q3UMP2
      Related
      ENSMUSP00000030432.8, ENSMUST00000030432.8
      Conserved Domains (2) summary
      PLN02746
      Location:17 → 325
      PLN02746; hydroxymethylglutaryl-CoA lyase
      pfam00682
      Location:32 → 306
      HMGL-like; HMGL-like

    RNA

    1. NR_185229.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL672076

    2. NR_185230.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL672076

    3. NR_185231.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL672076

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      135673776..135689926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P38060.2 GenPept UniProtKB/Swiss-Prot:P38060

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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