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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:135673759-135689928 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 68.14 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96158
protein coding gene Chr4:135673745-135689979 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028954
protein coding gene Chr4:138441684-138457591 (+)
A/J MGP_AJ_G0028913
protein coding gene Chr4:132564242-132580295 (+)
AKR/J MGP_AKRJ_G0028865
protein coding gene Chr4:136393107-136410317 (+)
BALB/cJ MGP_BALBcJ_G0028937
protein coding gene Chr4:133235296-133250729 (+)
C3H/HeJ MGP_C3HHeJ_G0028651
protein coding gene Chr4:136672089-136690544 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029378
protein coding gene Chr4:143348165-143366193 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026649
protein coding gene Chr4:125615423-125631461 (+)
CAST/EiJ MGP_CASTEiJ_G0028083
protein coding gene Chr4:134806899-134825468 (+)
CBA/J MGP_CBAJ_G0028616
protein coding gene Chr4:147283905-147308550 (+)
DBA/2J MGP_DBA2J_G0028765
protein coding gene Chr4:132996869-133012902 (+)
FVB/NJ MGP_FVBNJ_G0028732
protein coding gene Chr4:131915733-131932004 (+)
LP/J MGP_LPJ_G0028864
protein coding gene Chr4:138540067-138555965 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028758
protein coding gene Chr4:151564836-151582275 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029416
protein coding gene Chr4:136845745-136862666 (+)
PWK/PhJ MGP_PWKPhJ_G0027803
protein coding gene Chr4:129762918-129779632 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027629
protein coding gene Chr4:132662996-132679823 (+)
WSB/EiJ MGP_WSBEiJ_G0028161
protein coding gene Chr4:137021670-137039237 (+)



Homology
more
  • Human Ortholog
    HMGCL, 3-hydroxy-3-methylglutaryl-CoA lyase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HMGCL, 3-hydroxy-3-methylglutaryl-CoA lyase
  • Synonyms
    HL, HMGCL1
  • Links
    NCBI Gene ID: 3155
    neXtProt AC: NX_P35914
    UniProt: P35914

  • Chr Location
    1p36.11; chr1:23801885-23838620 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human HMGCL associations

Human Disease Mouse Models
      
IDs
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
    10 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028672 Ensembl Gene Model | MGI Sequence Detail 16170 C57BL/6J ±  kb
    transcript ENSMUST00000030432 Ensembl | MGI Sequence Detail 1418 Not Applicable  
    polypeptide ENSMUSP00000030432 Ensembl | MGI Sequence Detail 325 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 180
      Genomic 3
      cDNA 176
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10794, MGI:2140574
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Gene Ontology 10
      Phenotypes 10
    • 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:256548 Wagner GR, et al., A Class of Reactive Acyl-CoA Species Reveals the Non-enzymatic Origins of Protein Acylation. Cell Metab. 2017 Apr 4;25(4):823-837.e8

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory