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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:611604 Ensembl IDEnsembl:ENSG00000107566 HGNC IDHGNC:HGNC:16947 PHARMGKB IDPA162385299 Map Location10q24.31 |
GO terms in ERLIN1
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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 |
Gene expression in normal tissue: ERLIN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERLIN1
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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 |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD309 | 17AAG | 1 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ERLIN1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |