产品名称
SIL1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/64374
Human Swissprot No.
Q9H173
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9H173/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/81500
Mouse Swissprot No.
Q9EPK6
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9EPK6
Rat Gene Link
https://www.uniprot.org/uniprot/291673
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q6P6S4
免疫原
Synthesized peptide derived from human SIL1 AA range: 169-219
特异性
This antibody detects endogenous levels of SIL1 at Human/Mouse/Rat
稀释度
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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.
细胞定位
Endoplasmic reticulum lumen .
功能
developmental stage:Expressed in fetal kidney, fetal lung, fetal liver and at low levels in fetal brain.,disease:Defects 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.,function:Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.,PTM:N-glycosylated.,similarity:Belongs to the SIL1 family.,subunit:Interacts with HSPA5.,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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
