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

Gene ID: 15356, updated on 2-Nov-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, Nov 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

Expression

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

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

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

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

    Status: VALIDATED

    Source sequence(s)
    AL672076

  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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