Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10613 |
Gene nameGene Name - the full gene name approved by the HGNC.
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ER lipid raft associated 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ERLIN1 |
SynonymsGene synonyms aliases
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C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62 |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.31 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs876657413 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs876661322 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
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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Sequence |
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Sequence length |
348 |
Interactions |
View interactions |