Gene
erlin1
- ID
- ZDB-GENE-050327-13
- Name
- ER lipid raft associated 1
- Symbol
- erlin1 Nomenclature History
- Previous Names
-
- fa10h05
- fb19h05
- wu:fa10h05
- wu:fb19h05
- zgc:110547
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable cholesterol binding activity. Predicted to be involved in SREBP signaling pathway. Predicted to act upstream of or within cholesterol metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in liver. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 62. Orthologous to human ERLIN1 (ER lipid raft associated 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 62 | Alliance | Spastic paraplegia 62, autosomal recessive | 615681 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Band 7 domain | Band 7/SPFH domain superfamily | Erlin1/2 |
|---|---|---|---|---|
|
UniProtKB:Q58EG2
|
342 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
erlin1-201
(1)
|
Ensembl | 3,706 nt | ||
| mRNA |
erlin1-202
(1)
|
Ensembl | 967 nt | ||
| mRNA |
erlin1-203
(1)
|
Ensembl | 4,419 nt |
Interactions and Pathways
No data available
Plasmids
No data available