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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Sequence Targeting Reagents

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

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
Family	IPR004816	Hydroxymethylglutaryl-CoA reductase, metazoan
Homologous_superfamily	IPR009023	Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily
Homologous_superfamily	IPR009029	Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily
Homologous_superfamily	IPR023074	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily
Homologous_superfamily	IPR023282	Hydroxymethylglutaryl-CoA reductase, N-terminal

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

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	hmgcra-201 (1) Ensembl	Ensembl	3,895 nt	Select Tool ZFIN BLAST
mRNA	hmgcra-202 (1) Ensembl	Ensembl	2,930 nt	Select Tool ZFIN BLAST
mRNA	hmgcra-203 (1) Ensembl	Ensembl	4,304 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations