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ERLIN1 (ER lipid raft associated 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10613
Gene nameGene Name - the full gene name approved by the HGNC.
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.
ERLIN1
SynonymsGene synonyms aliases
C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.31
SummarySummary of gene provided in NCBI Entrez Gene.
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.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025383 hsa-miR-34a-5p Proteomics 21566225
MIRT025383 hsa-miR-34a-5p Proteomics 21566225
MIRT025383 hsa-miR-34a-5p Proteomics 21566225
MIRT025383 hsa-miR-34a-5p Proteomics 21566225
MIRT025383 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19240031, 21343306, 22119785, 25416956, 30021884, 32296183
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 16835267, 19240031
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITT
FRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFN
KIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEA
IRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKA
VIEAEKIAQVAKIRFQQKVMEKET
EKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFG
SNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG
Sequence length 348
Interactions View interactions

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