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nucleotide exchange factor SIL1 (BiP-associated protein, BAP, SIL1)
Function:
1) required for protein translocation & folding in the endoplasmic reticulum (ER)
2) nucleotide exchange factor for the ER lumenal chaperone HSPA5
Structure:
- belongs to the SIL1 family
- N-glycosylated
Compartment: endoplasmic reticulum lumen
Expression:
- highly expressed in tissues which produce large amounts of secreted proteins, i.e. kidney, liver, placenta
- also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen, thymus
- expressed at low levels throughout the brain
- expressed in fetal kidney, fetal lung, fetal liver & at low levels in fetal brain
Pathology:
- defects in SIL1 are a cause of Marinesco-Sjoegren syndrome
- mutational inactivation of SIL1 may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins critical for organs targeted in Marinesco-Sjoegren syndrome
General
chaperonin; chaperone
glycoprotein
Properties
SIZE: MW = 52 kD
entity length = 461 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: interaction with HSPA5 & localization to the endoplasmic reticulum {1-256}
MOTIF: signal sequence {1-31}
N-glycosylation site {N193}
N-glycosylation site {N236}
Database Correlations
OMIM correlations
MORBIDMAP 608005
UniProt Q9H173
References
- UniProt :accession Q9H173
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MSS