ERLIN1 Gene Summary [Human]
The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | ERLIN1 |
| Official Name | ER lipid raft associated 1 [Source:HGNC Symbol;Acc:HGNC:16947] |
| Ensembl ID | ENSG00000107566 |
| Bio databases IDs | |
| Aliases | ER lipid raft associated 1, Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 |
| Synonyms | 2810439N09RIK, C10orf69, C80197, ER lipid raft associated 1, KE04, KEO4, RGD1307058, SPFH1, SPG62 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERLIN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vacuolar (H+)-ATPase G subunit
- cholesterol binding
- SPFH_like
- prohibitin homologues
- protein binding
- SPFH domain / Band 7 family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- autosomal recessive spastic paraplegia type 62
- pervasive developmental disorder
- non-insulin-dependent diabetes mellitus
- amyotrophic lateral sclerosis
- liver disease
- hereditary spastic paraplegia
- juvenile amyotrophic lateral sclerosis
regulates
- fatty acid
- cholesterol
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERLIN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of fatty acid biosynthetic process
- SREBP-mediated signaling pathway
- regulation of cholesterol biosynthetic process
- negative regulation of cholesterol biosynthetic process
- cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane raft
- endoplasmic reticulum
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- cholesterol binding