SIL1

SIL1
Identifiers
Aliases	SIL1, BAP, MSS, ULG5, SIL1 nucleotide exchange factor
External IDs	OMIM: 608005; MGI: 1932040; HomoloGene: 32544; GeneCards: SIL1; OMA:SIL1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	139,293,557 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	35,632,833 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; body of pancreas; ; left testis; ; right testis; ; stromal cell of endometrium; ; right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; right lobe of liver;
	Top expressed in
	spermatocyte; ; spermatid; ; lacrimal gland; ; parotid gland; ; seminal vesicula; ; right kidney; ; Epithelium of choroid plexus; ; left lobe of liver; ; seminiferous tubule; ; proximal tubule;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	unfolded protein binding; protein binding; adenyl-nucleotide exchange factor activity;
Cellular component	endoplasmic reticulum lumen; endoplasmic reticulum; extracellular space; cytoplasm;
Biological process	protein folding; protein transport; intracellular protein transport; transport; regulation of catalytic activity;
	Sources:Amigo / QuickGO
Orthologs
	64374
	81500
	ENSG00000120725
	ENSMUSG00000024357
	Q9H173
	Q9EPK6
	NM_001037633; NM_022464
	NM_030749; NM_001360814
	NP_001032722; NP_071909
	NP_109674; NP_001347743
	Wikidata
View/Edit Human	View/Edit Mouse

Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.

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.