SIL1

Summary: This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameSIL1 nucleotide exchange factor
OMIM IDMIM:608005
Ensembl IDEnsembl:ENSG00000120725
HGNC IDHGNC:HGNC:24624
PHARMGKB IDPA142670916
Map Location5q31.2

GO terms in SIL1


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IBA GO:0000774 adenyl-nucleotide exchange factor activity
MF IPI GO:0005515 protein binding
MF NAS GO:0051082 unfolded protein binding
BP NAS GO:0006457 protein folding
BP NAS GO:0006886 intracellular protein transport
CC HDA GO:0005615 extracellular space
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Gene expression in normal tissue: SIL1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SIL1


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Database
Pathway ID
Pathway Des.
kegg hsa04141 Protein processing in endoplasmic reticulum - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD68 Paclitaxel 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SIL1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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