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

    Gene ID: 15356, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in liver adult (RPKM 37.8), liver E18 (RPKM 25.7) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

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

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
      Conserved Domains (1) summary
      PLN02746
      Location:4300
      PLN02746; hydroxymethylglutaryl-CoA lyase
    2. NM_001357530.2NP_001344459.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL672076
      Conserved Domains (1) summary
      PLN02746
      Location:16256
      PLN02746; hydroxymethylglutaryl-CoA lyase
    3. NM_001421027.1NP_001407956.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    4. NM_001421028.1NP_001407957.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    5. NM_001421029.1NP_001407958.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    6. NM_001421030.1NP_001407959.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    7. NM_001421031.1NP_001407960.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    8. NM_001421033.1NP_001407962.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    9. NM_001421034.1NP_001407963.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672076
      UniProtKB/TrEMBL
      Q3UMP2
    10. NM_008254.4NP_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:17325
      PLN02746; hydroxymethylglutaryl-CoA lyase
      pfam00682
      Location:32306
      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)