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Hmgcs1 Gene Detail
Summary
  • Symbol
    Hmgcs1
  • Name
    3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1
  • Synonyms
    B130032C06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:107592
    NCBI Gene: 208715
Location & Maps
more
  • Sequence Map
    Chr13:119690462-119708086 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17625 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, Syntenic
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HMGCS1, 3-hydroxy-3-methylglutaryl-CoA synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HMGCS1, 3-hydroxy-3-methylglutaryl-CoA synthase 1
    Orthology source: HomoloGene
  • Synonyms
    HMGCS
  • Links
    NCBI Gene ID: 3157
    neXtProt AC: NX_Q01581

  • Chr Location
    5p12; chr5:43287470-43313512 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotype references
  • All Mutations and Alleles
    34
  • Gene trapped
    34
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000093930 Ensembl Gene Model | MGI Sequence Detail 17625 C57BL/6J ±  kb
transcript ENSMUST00000179869 Ensembl | MGI Sequence Detail 3233 Not Applicable  
polypeptide ENSMUSP00000136944 Ensembl | MGI Sequence Detail 520 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    182 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000008637 hydroxymethylglutaryl-CoA synthase, cytoplasmic
  • EC
  • InterPro Domains
    IPR010122 Hydroxymethylglutaryl-CoA synthase, eukaryotic
    IPR000590 Hydroxymethylglutaryl-coenzyme A synthase, active site
    IPR013746 Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain
    IPR013528 Hydroxymethylglutaryl-coenzyme A synthase, N-terminal
    IPR016039 Thiolase-like
Molecular
Reagents
less
  • All nucleic 399
    cDNA 397
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-36164, MGI:2442911
References
more
  • Summaries
    All 46
    Developmental Gene Expression 11
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:17114 Valera A, et al., Overexpression of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in transgenic mice causes hepatic hyperketogenesis. J Biol Chem. 1994 Mar 4;269(9):6267-70
  • Latest
    J:231339 Vergnes L, et al., SREBP-2-deficient and hypomorphic mice reveal roles for SREBP-2 in embryonic development and SREBP-1c expression. J Lipid Res. 2016 Mar;57(3):410-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory