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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ERLIN1
ER lipid raft associated 1
Chromosome 10 Β· 10q24.31
NCBI Gene: 10613Ensembl: ENSG00000107566.15HGNC: HGNC:16947UniProt: O75477
153PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcholesterol bindingendoplasmic reticulum membraneendoplasmic reticulumhereditary spastic paraplegia 62Autosomal recessive spastic paraplegia type 62hereditary spastic paraplegiacystic fibrosis
✦AI Summary

ERLIN1 encodes an endoplasmic reticulum (ER)-resident protein that forms oligomeric ring-like complexes with ERLIN2, creating specialized membrane nanodomains critical for multiple cellular processes 1. The primary function involves protein quality control through the ER-associated degradation (ERAD) pathway, where ERLIN1/2 complexes scaffold interactions between TMUB1 and RNF170 to facilitate degradation of misfolded proteins 1. ERLIN1 also regulates lipid homeostasis by restricting cholesterol esterification and promoting cholesterol transport from ER to Golgi, thereby affecting secretory pathway function 1. Additionally, ERLIN1 maintains autophagy by directly binding and stabilizing phosphatidylinositol 3-phosphate (PI(3)P), with complex disruption reducing cellular PI(3)P levels by ~50% and decreasing autophagic flux 2. Disease relevance includes mutations causing spastic paraplegia 62 (SPG62), a rare hereditary spastic paraplegia subtype, as demonstrated by a novel splicing mutation disrupting the conserved prohibitin domain 3. Clinically, the common p.Ile291Val variant shows protective effects against metabolic dysfunction-associated steatotic liver disease (MASLD), functioning as a potential gain-of-function mutation that reduces liver enzyme levels while increasing plasma lipid levels 4. ERLIN1 variants also influence fatty liver disease susceptibility and hepatic inflammation 5.

Sources cited
1
ERLIN1 forms ring-like complexes with ERLIN2, scaffolds TMUB1-RNF170 interactions, and regulates cholesterol esterification and secretory pathway
PMID: 38782601
2
ERLIN1/2 complex directly binds PI(3)P and maintains autophagy, with complex disruption reducing cellular PI(3)P levels by ~50%
PMID: 39018973
3
ERLIN1 mutations cause spastic paraplegia 62, with novel splicing mutation disrupting prohibitin domain
PMID: 36100157
4
ERLIN1 p.Ile291Val variant provides protection against MASLD and affects plasma lipid levels
PMID: 38776916
5
ERLIN1 variants influence fatty liver disease and hepatic inflammation susceptibility
PMID: 23477746
Disease Associationsβ“˜21
hereditary spastic paraplegia 62Open Targets
0.71Strong
Autosomal recessive spastic paraplegia type 62Open Targets
0.70Moderate
hereditary spastic paraplegiaOpen Targets
0.59Moderate
cystic fibrosisOpen Targets
0.46Moderate
Abnormality of the liverOpen Targets
0.41Moderate
intelligenceOpen Targets
0.40Moderate
juvenile amyotrophic lateral sclerosisOpen Targets
0.34Weak
liver diseaseOpen Targets
0.31Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
schizophreniaOpen Targets
0.20Weak
squamous cell carcinomaOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.18Weak
psoriasisOpen Targets
0.17Weak
cholelithiasisOpen Targets
0.15Weak
colorectal carcinomaOpen Targets
0.07Suggestive
hepatitis C virus infectionOpen Targets
0.07Suggestive
SepsisOpen Targets
0.07Suggestive
infectionOpen Targets
0.04Suggestive
anorexia nervosaOpen Targets
0.03Suggestive
Spastic paraplegia 62, autosomal recessiveUniProt
Pathogenic Variants5
NM_006459.4(ERLIN1):c.273del (p.Ile91fs)Likely pathogenic
Hereditary spastic paraplegia 62
β˜…β˜†β˜†β˜†2023β†’ Residue 91
NM_006459.4(ERLIN1):c.196-1G>APathogenic
Hereditary spastic paraplegia 62
β˜…β˜†β˜†β˜†2023
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)Pathogenic
Juvenile amyotrophic lateral sclerosis
β˜…β˜†β˜†β˜†2020β†’ Residue 94
NM_006459.4(ERLIN1):c.753del (p.Phe252fs)Likely pathogenic
Hereditary spastic paraplegia
β˜…β˜†β˜†β˜†2016β†’ Residue 252
NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)Pathogenic
Hereditary spastic paraplegia 62
β˜†β˜†β˜†β˜†2014β†’ Residue 50
View on ClinVar β†—
Related Genes
VCPProtein interaction100%SYVN1Protein interaction96%RNF5Protein interaction89%PHB1Protein interaction85%UBAC2Protein interaction85%AMFRProtein interaction84%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
98%
Ovary
27%
Lung
26%
Heart
17%
Brain
12%
Gene Interaction Network
Click a node to explore
ERLIN1VCPSYVN1RNF5PHB1UBAC2AMFR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75477
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.56 [0.32–1.05]
RankingsWhere ERLIN1 stands among ~20K protein-coding genes
  • #2,950of 20,598
    Most Researched153 Β· top quartile
  • #3,496of 5,498
    Most Pathogenic Variants5
  • #10,484of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedERLIN1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
PMID: 36100157
Eur J Med Genet Β· 2022
1.00
2
The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
PMID: 23477746
Atherosclerosis Β· 2013
0.90
3
ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.
PMID: 38782601
Life Sci Alliance Β· 2024
0.80
4
Association of Genetic Risk Score With NAFLD in An Ethnically Diverse Cohort.
PMID: 34558842
Hepatol Commun Β· 2021
0.72
5
The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD.
PMID: 38776916
Med Β· 2024
0.70