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Hmgcl Gene Detail
Summary
  • Symbol
    Hmgcl
  • Name
    3-hydroxy-3-methylglutaryl-Coenzyme A lyase
  • Feature Type
    protein coding gene
  • IDs
    MGI:96158
    NCBI Gene: 15356
Location & Maps
more
  • Sequence Map
    Chr4:135946448-135962617 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16170 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 68.14 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    HMGCL, 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HMGCL, 3-hydroxymethyl-3-methylglutaryl-CoA lyase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HL
  • Links
    NCBI Gene ID: 3155
    neXtProt AC: NX_P35914

  • Chr Location
    1p36.1-p35; chr1:23801877-23825459 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HMGCL associations

Human Disease Mouse Models
       3-hydroxy-3-Methylglutaryl-Coa Lyase Deficiency; HMGCLD   OMIM: 246450
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Targeted
    5
  • Genomic Mutations
    3 involving Hmgcl
  • Incidental Mutations
Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009847 VEGA Gene Model | MGI Sequence Detail 16170 C57BL/6J ±  kb
transcript OTTMUST00000022820 VEGA | MGI Sequence Detail 1418 Not Applicable  
polypeptide OTTMUSP00000010411 VEGA | MGI Sequence Detail 325 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    141 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000008635 hydroxymethylglutaryl-CoA lyase, mitochondrial
  • EC
  • InterPro Domains
    IPR013785 Aldolase-type TIM barrel
    IPR000138 Hydroxymethylglutaryl-CoA lyase, active site
    IPR030020 Hydroxymethylglutaryl-CoA lyase, mitochondrial
    IPR000891 Pyruvate carboxyltransferase
Molecular
Reagents
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  • All nucleic 179
    Genomic 3
    cDNA 175
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10794, MGI:2140574
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:12926 Wang S, et al., 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. Mamm Genome. 1993;4(7):382-7
  • Latest
    J:204294 Gauthier N, et al., A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. PLoS One. 2013;8(7):e60581

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory