SIL1 (SIL1 nucleotide exchange factor)

2016-05-01  

Identity

HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
BAP,MSS,ULG5
FUSION GENES

Other Information

Locus ID:

NCBI: 64374
MIM: 608005
HGNC: 24624
Ensembl: ENSG00000120725

Variants:

dbSNP: 64374
ClinVar: 64374
TCGA: ENSG00000120725
COSMIC: SIL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120725ENST00000265195Q9H173
ENSG00000120725ENST00000265195A0A0S2Z6B4
ENSG00000120725ENST00000394817Q9H173
ENSG00000120725ENST00000394817A0A0S2Z6B4
ENSG00000120725ENST00000505353D6R940
ENSG00000120725ENST00000505830D6RG16
ENSG00000120725ENST00000505945A0RZB6
ENSG00000120725ENST00000507002D6RAI3
ENSG00000120725ENST00000508639D6RIU8
ENSG00000120725ENST00000509534D6REA1
ENSG00000120725ENST00000513453D6RBP7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
162829772005Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.59
162829782005The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.49
123567562002BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.47
241769782013SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.21
222191832012C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.13
204308992010Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct.12
258778692015The nucleotide exchange factors Grp170 and Sil1 induce cholera toxin release from BiP to enable retrotranslocation.12
182858272008Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.11
244732002014SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.11
264681562016Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.8

Citation

Dessen P

SIL1 (SIL1 nucleotide exchange factor)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55779/sil1