|
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 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERLIN1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62 |
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Chromosome
Chromosome number
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10 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.31 |
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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 |
|
| Tissue specificity |
TISSUE SPECIFICITY: Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine. {ECO:0000269|PubMed:11118313}. |
| Sequence |
|
| Sequence length |
348 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Amyotrophic Lateral Sclerosis |
juvenile amyotrophic lateral sclerosis |
rs1844420892 |
N/A |
| Hereditary spastic paraplegia |
Hereditary spastic paraplegia 62 |
rs876661322 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Diabetes |
Type 2 diabetes, Type 2 diabetes or schizophrenia (pleiotropy) |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease 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 |
| Spastic Paraplegia Hereditary |
Associate
|
29453415 |
|