ERLIN1
ER Lipid Raft Associated 1
Gene Information Card
| Symbol | ERLIN1 |
|---|---|
| Full Name | ER Lipid Raft Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 10613 ncbi.nlm.nih.gov/gene/10613 |
| Ensembl ID | ENSG00000107566 |
| UniProt ID | O75477 |
| OMIM ID | 611604 |
| HGNC ID | 16947 |
| Aliases | SPFH1, SPG62, KE04, Erlin-1 |
Description
ERLIN1 encodes a protein that localizes to the endoplasmic reticulum (ER) membrane and is a component of the ER-associated degradation (ERAD) machinery. It forms a complex with ERLIN2 to mediate the degradation of inositol 1,4,5-trisphosphate receptors (IP3Rs) and other misfolded proteins. Mutations in ERLIN1 cause hereditary spastic paraplegia type 62 (SPG62), an autosomal recessive neurodegenerative disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 62 (SPG62) | Loss-of-function mutations impair ERAD of IP3Rs, leading to ER stress and axonal degeneration | OMIM #615625; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| SH-SY5Y | 9.6 | Neuronal model |
| HepG2 | 7.3 | Liver-derived |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117*) | Nonsense | Rare | Loss of function; truncation |
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon; no protein |
| c.205C>T (p.Arg69Trp) | Missense | Rare | Likely loss of function; disrupts ERAD complex |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations impair ERAD function, leading to ER stress and neurodegeneration in SPG62.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ER-associated ubiquitin-dependent protein catabolic process | • protein homooligomerization |
| • cholesterol homeostasis | • endoplasmic reticulum membrane |
| • ubiquitin protein ligase binding |
Pathways
• ERAD (ER-associated degradation) pathway
• Unfolded protein response (UPR)
Protein Summary
ERLIN1 is a 346-amino acid protein containing a prohibitin (PHB) domain. It forms a hetero-oligomeric complex with ERLIN2 that recognizes and targets misfolded ER membrane proteins for ubiquitination and proteasomal degradation. The protein is highly expressed in brain and testis, and its dysfunction is linked to hereditary spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERLIN1 Knockout HEK293 Cell Line | EDJ-KQ7109 | Human | 10613 | Details Get a Quote |
| ERLIN1 Knockout A-549 Cell Line | EDJ-KQ31971 | Human | 10613 | Details Get a Quote |
| ERLIN1 Knockout HCT 116 Cell Line | EDJ-KQ31972 | Human | 10613 | Details Get a Quote |
| ERLIN1 Knockout HeLa Cell Line | EDJ-KQ31973 | Human | 10613 | Details Get a Quote |
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