Gene
hmgcra
- ID
- ZDB-GENE-040401-2
- Name
- 3-hydroxy-3-methylglutaryl-CoA reductase a
- Symbol
- hmgcra Nomenclature History
- Previous Names
- 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 and membrane. 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
-
- All Expression Data
- 34 figures from 25 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Hanai et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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 |
- Genome Browsers
| 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 |
Interactions and Pathways
No data available
Plasmids
No data available