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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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
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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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Reference ID
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Cancer
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