SIL1 SIL1 nucleotide exchange factor

Gene ID: 64374, updated on 17-Jun-2024
Gene type: protein coding
Also known as: BAP; MSS; ULG5

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Marinesco-Sjogren syndrome MedGen: C0024814OMIM: 248800GeneReviews: Marinesco-Sjogren Syndrome	See labs

Genomic context

Location:: 5q31.2

Sequence:: Chromosome: 5; NC_000005.10 (138946724..139198368, complement)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SIL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SIL1 @ LOVD
Variation Viewer
Related Variants

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