Recombinant full length protein of Human SIL1 produced in HEK293T cells (NP_071909).
HEK293T cell lysate transfected with pCMV6-ENTRY SIL1 cDNA, SIL1 transiently transfected COS7 cells, Human kidney, liver, carcinoma of liver, Adenocarcinoma of ovary, pancreas, and Carcinoma of prostate tissues
General notesDilute in PBS (pH7.3) before use.
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/2000. Predicted molecular weight: 52 kDa.
FunctionRequired for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.
Tissue specificityHighly 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.
Involvement in diseaseDefects in SIL1 are a cause of Marinesco-Sjoegren syndrome (MSS) [MIM:248800]. MSS is an 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.
Sequence similaritiesBelongs to the SIL1 family.
Developmental stageExpressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain.