Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10613
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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ER lipid raft associated 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERLIN1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SPG62 |
Chromosome
Chromosome number
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10 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.31 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
UniProt ID |
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
Accession |
ID |
Position in sequence |
Description |
Type |
PF01145
|
Band_7 |
26 → 216 |
SPFH domain / Band 7 family |
Family |
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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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