Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10613
Gene name Gene Name - the full gene name approved by the HGNC.
ER lipid raft associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERLIN1
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG62
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.31
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611604 16947 ENSG00000107566
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
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine. {ECO:0000269|PubMed:11118313}.
Sequence
MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITT
FRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFN
KIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEA
IRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKA
VIEAEKIAQVAKIRFQQKVMEKET
EKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFG
SNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG
Sequence length 348
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 62 GenCC
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis GenCC
Schizophrenia Schizophrenia GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 29453415
Colorectal Neoplasms Associate 35412433
Coronary Artery Disease Associate 28120895
Hyperbilirubinemia Associate 29453415
Motor Neuron Disease Associate 29453415
Neoplasms Associate 29596435
Neoplasms Stimulate 35412433
Neurodegenerative Diseases Associate 31874412
Non alcoholic Fatty Liver Disease Associate 24785259, 32841307, 34558842
Pancreatic Neoplasms Associate 29596435