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Hmgcr Gene Detail
Summary
  • Symbol
    Hmgcr
  • Name
    3-hydroxy-3-methylglutaryl-Coenzyme A reductase
  • Synonyms
    3-hydroxy-3-methylglutaryl-CoA reductase, HMG-CoAR, Red
  • Feature Type
    protein coding gene
  • IDs
    MGI:96159
    NCBI Gene: 15357
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:96785475-96807444 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 50.65 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    640 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96159
 protein coding gene Chr13:96785470-96807444 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020853
 protein coding gene Chr13:98204846-98226852 (-)
A/J MGP_AJ_G0020807
 protein coding gene Chr13:94499779-94522399 (-)
AKR/J MGP_AKRJ_G0020781
 protein coding gene Chr13:97391254-97413292 (-)
BALB/cJ MGP_BALBcJ_G0020804
 protein coding gene Chr13:95193048-95215423 (-)
C3H/HeJ MGP_C3HHeJ_G0020597
 protein coding gene Chr13:97086408-97108466 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021239
 protein coding gene Chr13:101164606-101188037 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018808
 protein coding gene Chr13:90306244-90327673 (-)
CAST/EiJ MGP_CASTEiJ_G0020115
 protein coding gene Chr13:96407058-96429201 (-)
CBA/J MGP_CBAJ_G0020556
 protein coding gene Chr13:105179392-105202220 (-)
DBA/2J MGP_DBA2J_G0020681
 protein coding gene Chr13:94269776-94291949 (-)
FVB/NJ MGP_FVBNJ_G0020662
 protein coding gene Chr13:93041414-93063595 (-)
LP/J MGP_LPJ_G0020756
 protein coding gene Chr13:98337334-98360254 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020690
 protein coding gene Chr13:105556751-105579836 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021280
 protein coding gene Chr13:96809555-96831573 (-)
PWK/PhJ MGP_PWKPhJ_G0019867
 protein coding gene Chr13:93057471-93080342 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019691
 protein coding gene Chr13:93093426-93116954 (-)
WSB/EiJ MGP_WSBEiJ_G0020172
 protein coding gene Chr13:97281404-97304772 (-)



Homology
more
  • Human Ortholog
    HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase
  • Synonyms
    LDLCQ3, LGMDR28, MYPLG
  • Links
    NCBI Gene ID: 3156
    neXtProt AC: NX_P04035
    UniProt: P04035

  • Chr Location
    5q13.3; chr5:75336329-75364001 (+)  GRCh38
Human Diseases
more
  • Diseases
    11 with human HMGCR associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    23 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.
Inactivation of both copies of this gene results in early embryonic lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    19
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
less
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
    826
  • Tissues
    39
  • cDNA Data
    264
  • Literature Summary
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021670 Ensembl Gene Model | MGI Sequence Detail 21970 C57BL/6J ±  kb
    transcript ENSMUST00000022176 Ensembl | MGI Sequence Detail 4425 Not Applicable  
    polypeptide ENSMUSP00000022176 Ensembl | MGI Sequence Detail 887 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000008636 3-hydroxy-3-methylglutaryl-coenzyme A reductase
      (term hierarchy)
    • EC
      1.1.1.34
    • InterPro Domains
      IPR002202 Hydroxymethylglutaryl-CoA reductase, class I/II
      IPR023074 Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily
      IPR023076 Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site
      IPR009023 Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily
      IPR009029 Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily
      IPR004554 Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type
      IPR004816 Hydroxymethylglutaryl-CoA reductase, metazoan
      IPR023282 Hydroxymethylglutaryl-CoA reductase, N-terminal
      IPR030225 Sterol regulatory element-binding protein cleavage-activating protein
      IPR000731 Sterol-sensing domain
    • GlyGen
      Q01237 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 275
      cDNA 266
      Primer pair 7
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10795
    References
    more
    • Summaries
      All 111
      Developmental Gene Expression 30
      Gene Ontology 19
      Phenotypes 23
    • Earliest
      J:10019 Sundaresan S, et al., Genes for HMG-CoA reductase and serotonin 1a receptor are on mouse chromosome 13. Somat Cell Mol Genet. 1989 Sep;15(5):465-9
    • Latest
      J:343810 Guo CG, et al., Intestinal SURF4 is essential for apolipoprotein transport and lipoprotein secretion. Mol Metab. 2023 Nov 30;79:101847
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory