SIL1 recombinant protein

Recombinant Human SIL1 Protein

Cat. Num. AAA8249795

• Gene Names: SIL1; BAP; MSS; ULG5
• Reactivity: Human
• Applications: ELISA, Western Blot, SDS-Page
• Purity: Greater than 95% as determined by reducing SDS-PAGE.
• Synonyms: SIL1; Recombinant Human SIL1 Protein; Nucleotide exchange factor SIL1; BiP-associated protein; BAP; SIL1 recombinant protein

• Host: Human cells
• Reactivity: Human
• Purity/Purification: Greater than 95% as determined by reducing SDS-PAGE.
• Form/Format: Lyophilized from a 0.2 muM filtered solution of 20mM PB, 150mM NaCl, pH 7.4.
• Sequence: HQNLKEFALT NPEKSSTKET ERKETKAEEE LDAEVLEVFH PTHEWQALQP GQAVPAGSHV RLNLQTGERE AKLQYEDKFR NNLKGKRLDI NTNTYTSQDL KSALAKFKEG AEMESSKEDK ARQAEVKRLF RPIEELKKDF DELNVVIETD MQIMVRLINK FNSSSSSLEE KIAALFDLEY YVHQMDNAQD LLSFGGLQVV INGLNSTEPL VKEYAAFVLG AAFSSNPKVQ VEAIEGGALQ KLLVILATEQ PLTAKKKVLF ALCSLLRHFP YAQRQFLKLG GLQVLRTLVQ EKGTEVLAVR VVTLLYDLVT EKMFAEEEAE LTQEMSPEKL QQYRQVHLLP GLWEQGWCEI TAHLLALPEH DAREKVLQTL GVLLTTCRDR YRQDPQLGRT LASLQAEYQV LASLELQDGE DEGYFQELLG SVNSLLKELR VDHHHHHH
• Sequence Length: 461

• Applicable Applications for SIL1 recombinant protein: ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)
• Endotoxin: Less than 0.1 ng/mug (1 IEU/mug) as determined by LAL test.
• Directions for Use: Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100 mug/ml. Dissolve the lyophilized protein in 1X PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
• Preparation and Storage: Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.

Related Product Information for SIL1 recombinant protein

Recombinant Human SIL1 Protein is produced by our mammalian expression system and the target gene encoding His32-Arg461 is expressed with a 6His tag at the C-terminus.

NCBI and Uniprot Product Information

• NCBI GI #: 83641896
• NCBI GeneID: 64374
• NCBI Accession #: NP_001032722.1
• NCBI GenBank Nucleotide #: NM_001037633.1
• UniProt Accession #: Q9H173; Q8N2L3; D3DQC2
• Molecular Weight: 52,085 Da
• NCBI Official Full Name: nucleotide exchange factor SIL1
• NCBI Official Synonym Full Names: SIL1 nucleotide exchange factor
• NCBI Official Symbol: SIL1
• NCBI Official Synonym Symbols: BAP; MSS; ULG5
• NCBI Protein Information: nucleotide exchange factor SIL1
• UniProt Protein Name: Nucleotide exchange factor SIL1
• Protein Family: Silaffin
• UniProt Gene Name: SIL1
• UniProt Synonym Gene Names: BAP
• UniProt Entry Name: SIL1_HUMAN

NCBI Description

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]

Uniprot Description

SIL1: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. Defects in SIL1 are a cause of Marinesco-Sjoegren syndrome (MSS). 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. Belongs to the SIL1 family.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 5q31

Cellular Component: endoplasmic reticulum; extracellular space

Molecular Function: protein binding

Disease: Marinesco-sjogren Syndrome