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 have hydroxymethylglutaryl-CoA reductase (NADPH) activity and hydroxymethylglutaryl-CoA reductase activity. Involved in skeletal muscle tissue development. Predicted to localize to endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in gut and liver. Human ortholog(s) of this gene implicated in several diseases, including asthma; coronary artery disease (multiple); dementia; diabetes mellitus (multiple); and neurodegenerative disease (multiple). Orthologous to human HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 25 figures from 19 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 |
|---|---|---|---|
| [Low density lipoprotein cholesterol level QTL 3] | |||
| [Statins, attenuated cholesterol lowering by] |
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 |
| 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 | Length | 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:A0A2R8QHL5
|
912 | |||||||||
|
UniProtKB:A9JSZ0
|
884 | |||||||||
|
UniProtKB:A2BGX2
|
893 | |||||||||
|
UniProtKB:Q1ECY4
|
884 | |||||||||
|
UniProtKB:A0A2R8QRF7
|
884 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
hmgcra-201
(1)
|
3895 nt | |
| mRNA |
hmgcra-202
(1)
|
2930 nt |
Interactions and Pathways
No data available
Plasmids
No data available