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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SIL1 nucleotide exchange factor | MIM:608005 | Ensembl:ENSG00000120725 | HGNC:HGNC:24624 | PA142670916 | 5q31.2 |
GO terms in SIL1
| 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 |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | NAS | GO:0005783 | endoplasmic reticulum |
| CC | IEA | GO:0005788 | endoplasmic reticulum lumen |
Gene expression in normal tissue: SIL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SIL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04141 | Protein processing in endoplasmic reticulum - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SIL1
CLASSFICATION
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