Gene

hmgcra

ID
ZDB-GENE-040401-2
Name
3-hydroxy-3-methylglutaryl-CoA reductase a
Symbol
hmgcra Nomenclature History
Previous Names
  • hmgcr1 (1)
  • hmgcr1a
  • hmgra (1)
  • si:ch211-129a6.5
  • zgc:136576
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable hydroxymethylglutaryl-CoA reductase (NADPH) activity. Acts upstream of or within skeletal muscle tissue development. Predicted to be located in endoplasmic reticulum; membrane; and peroxisome. Predicted to be active in endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in brain; gut; inner ear; intestine; and liver. Human ortholog(s) of this gene implicated in several diseases, including attention deficit hyperactivity disorder; coronary artery disease (multiple); diabetes mellitus (multiple); muscular disease (multiple); and neurodegenerative disease (multiple). Orthologous to human HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
34 figures from 25 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Hanai et al., 2007
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa16920Allele with one point mutationUnknownPremature StopENU
sa33708Allele with one point mutationUnknownPremature StopENU
sa33709Allele with one point mutationUnknownPremature StopENU
sa40555Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-hmgcra
    (2)
    MO1-hmgcraN/AHanai et al., 2007
    MO2-hmgcraN/AHanai et al., 2007
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    Human Disease
    Associated With hmgcra Human Ortholog
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal recessive limb-girdle muscular dystrophy type 28 Alliance Muscular dystrophy, limb-girdle, autosomal recessive 28 620375
    [Low density lipoprotein cholesterol level QTL 3] 620410
    [Statins, response to] 620410
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    Associated With hmgcra Via Experimental Models
    No data available
    Gene Ontology
    Protein Domains
    Domain, Family, and Site Summary
    Type InterPro ID Name
    Conserved_site IPR023076 Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site
    Domain IPR000731 Sterol-sensing domain
    Domain IPR053958 HMGCR/SNAP/NPC1-like, sterol-sensing domain
    Family IPR002202 Hydroxymethylglutaryl-CoA reductase, class I/II
    Family IPR004554 Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type
    1 - 5 of 10 Show all
    Domain Details Per Protein
    Protein Additional Resources Length HMGCR/SNAP/NPC1-like, sterol-sensing domain Hydroxymethylglutaryl-CoA reductase, class I/II Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type Hydroxymethylglutaryl-CoA reductase, metazoan Hydroxymethylglutaryl-CoA reductase, N-terminal Sterol-sensing domain
    UniProtKB:A9JSZ0 InterPro 884
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    Transcripts
    Genome Browsers
    Genome Build: GRCz11Chromosome: 5
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA hmgcra-201 (1) Ensembl 3,895 nt
    mRNA hmgcra-202 (1) Ensembl 2,930 nt
    mRNA hmgcra-203 (1) Ensembl 4,304 nt
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    Interactions and Pathways
    No data available
    Antibodies
    No data available
    Plasmids
    No data available
    Constructs
    No data available
    Marker Relationships
    Relationship Marker Type Marker Accession Numbers Citations
    Contained inBACCH211-129A6ZFIN Curated Data
    Contained inBACDKEY-106O5ZFIN Curated Data
    EncodescDNAMGC:136576ZFIN Curated Data
    EncodescDNAMGC:174232ZFIN Curated Data
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanHMGCR5
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (2)
    MouseHmgcr13
    Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    Citations
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