ERLIN1 (ER lipid raft associated 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10613 |
| Gene name | ER lipid raft associated 1 |
| Gene symbol | ERLIN1 |
| Synonyms (NCBI Gene) |
C10orf69Erlin-1KE04KEO4SPFH1SPG62
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| Chromosome | 10 |
| Chromosome location | 10q24.31 |
| Summary | 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 pro |
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SNPs
SNP information provided by dbSNP.
2
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miRNA
miRNA information provided by mirtarbase database.
427
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O75477 | ||||||||||
| Protein name | Erlin-1 (Endoplasmic reticulum lipid raft-associated protein 1) (Protein KE04) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1) (SPFH domain-containing protein 1) | ||||||||||
| Protein function | 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 s | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine. {ECO:0000269|PubMed:11118313}. | ||||||||||
| Sequence |
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| Sequence length | 348 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
128
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