Gene Gene information from NCBI Gene database.
Entrez ID 10613
Gene name ER lipid raft associated 1
Gene symbol ERLIN1
Synonyms (NCBI Gene)
C10orf69Erlin-1KE04KEO4SPFH1SPG62
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
SNPs SNP information provided by dbSNP.
2
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.
427
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19240031, 21343306, 22119785, 25416956, 28514442, 30021884, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 16835267, 19240031
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611604 16947 ENSG00000107566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
128
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia Likely pathogenic rs2134100639 RCV001848428
Hereditary spastic paraplegia 62 Pathogenic rs876661322, rs2492926235 RCV000211706
RCV003226046
Juvenile amyotrophic lateral sclerosis Pathogenic rs1844420892 RCV001095431
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs41290524, rs141220781 RCV005922812
RCV005927993
Cervical cancer Likely benign rs41290524 RCV005922814
ERLIN1-related disorder Likely benign; Benign rs766965305, rs150796906 RCV003951934
RCV003967917
Gastric cancer Likely benign rs41290524 RCV005922817
Associations from Text MiningDisease associations identified through Pubtator
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