InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SIL1

Summary

InnateDB Protein

IDBP-240805.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SIL1

Protein Name

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000378294

InnateDB Gene

IDBG-47481 (SIL1)

Protein Structure

UniProt Annotation

Function

Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. {ECO:0000269PubMed:12356756}.

Subcellular Localization

Endoplasmic reticulum lumen {ECO:0000269PubMed:12356756, ECO:0000269PubMed:16282978}.

Disease Associations

Marinesco-Sjoegren syndrome (MSS) [MIM:248800]: Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. {ECO:0000269PubMed:16282977, ECO:0000269PubMed:16282978}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain. {ECO:0000269PubMed:12356756, ECO:0000269PubMed:16282978}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.