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ERLIN1

Chr 10q24.31

ER lipid raft associated 1

Aliases:
KE04, Erlin-1, SPG62
MANE:
ENST00000421367.7
OMIM: 611604 ↗NCBI: 10613 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hereditary spastic paraplegia 62

    0.68

  • Autosomal recessive spastic paraplegia type 62

    0.67

  • hereditary spastic paraplegia

    0.59

  • cystic fibrosis

    0.46

  • Abnormality of the liver

    0.39

  • intelligence

    0.36

  • juvenile amyotrophic lateral sclerosis

    0.34

  • liver disorder

    0.22

  • type 2 diabetes mellitus

    0.21

  • squamous cell carcinoma

    0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Erlin-1

Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway (PubMed:37683630). Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618)

Diseases associated with ERLIN1

Curated MONDO disease pages that list ERLIN1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.