ERLIN1
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 promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ER lipid raft associated 1 | MIM:611604 | Ensembl:ENSG00000107566 | HGNC:HGNC:16947 | PA162385299 | 10q24.31 |
GO terms in ERLIN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0015485 | cholesterol binding |
| MF | IDA | GO:0015485 | cholesterol binding |
| MF | IEA | GO:0031625 | ubiquitin protein ligase binding |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0032991 | protein-containing complex |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IDA | GO:0030433 | ubiquitin-dependent ERAD pathway |
| BP | IBA | GO:0032933 | SREBP signaling pathway |
| BP | IMP | GO:0032933 | SREBP signaling pathway |
| BP | IMP | GO:0045541 | negative regulation of cholesterol biosynthetic process |
| BP | IMP | GO:0045717 | negative regulation of fatty acid biosynthetic process |
| BP | TAS | GO:0055085 | transmembrane transport |
Gene expression in normal tissue: ERLIN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERLIN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-382556 | ABC-family proteins mediated transport |
| reactome | R-HSA-5619084 | ABC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| reactome | R-HSA-5678895 | Defective CFTR causes cystic fibrosis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERLIN1
CLASSFICATION
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