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Gene : SIL1 Homo sapiens

Name  ? SIL1 nucleotide exchange factor Cytological Location  5q31.2
Brief Description  SIL1 nucleotide exchange factor
description  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]
  • synonyms:
  • MSS,
  • OTTHUMG00000129226,
  • HGNC:24624,
  • AK075177,
  • ULG5,
  • NM_022464,
  • SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae),
  • Marinesco-Sjogren syndrome,
  • uc003ldp.4,
  • SIL1,
  • BAP,
  • MSS,
  • ULG5,
  • BAP
  • identifiers:
  • 64374,
  • ENSG00000120725,
  • SIL1

Genome feature

Region: gene ? Length: 251657  
Location: 5:138946720-139198376 reverse strand Cyto location: 5q31.2

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

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Gene(s) --> Significant SNPs (GTex data)

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2011 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results