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

Gene ID: 15356, updated on 8-Feb-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 fatty-acyl-CoA 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 amino acid metabolic disorder. Orthologous to human HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver adult (RPKM 37.8), liver E18 (RPKM 25.7) and 27 other tissues See more
Orthologs
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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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

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 catalytic activity IEA
Inferred from Electronic Annotation
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 lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables magnesium ion binding ISO
Inferred from Sequence Orthology
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 oxo-acid-lyase 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 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 leucine catabolic process IBA
Inferred from Biological aspect of Ancestor
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 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 ISO
Inferred from Sequence Orthology
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)

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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_001357529.2NP_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)