Gene

hmgcrb

ID
ZDB-GENE-051108-1
Name
3-hydroxy-3-methylglutaryl-CoA reductase b
Symbol
hmgcrb Nomenclature History
Previous Names
  • hmgcr1b
  • hmgcr2 (1)
  • hmgrb (1)
  • im:6912716
  • zgc:110746
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to enable hydroxymethylglutaryl-CoA reductase (NADPH) activity. Acts upstream of or within circulatory system development; embryonic viscerocranium morphogenesis; and neural crest cell migration. Predicted to be located in endoplasmic reticulum; membrane; and peroxisome. Predicted to be active in endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in liver; notochord; and polster. 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
11 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la014029TgTransgenic insertionUnknownUnknownDNA
s617Allele with one point mutationUnknownMissenseENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-hmgcrbN/A (3)
MO2-hmgcrbN/AEisa-Beygi et al., 2013
MO3-hmgcrbN/AEisa-Beygi et al., 2013
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Human Disease
Associated With hmgcrb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
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 hmgcrb 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
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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:Q58ER2 InterPro 845
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 21
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA hmgcrb-201 (1) Ensembl 3,424 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 inBACCH211-149I8
EncodesESTIMAGE:6904727Thisse et al., 2004
EncodesESTIMAGE:6912716Thisse et al., 2004
EncodescDNAMGC:110746ZFIN 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
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
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