Recombinant Human Collagen alpha-3(VI) chain(COL6A3),partial

Code	CSB-CF005753HUa6
Size	US$1235
Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Target Data

Product Details

Purity	Greater than 85% as determined by SDS-PAGE.
Target Names	COL6A3
Uniprot No.	P12111
Research Area	Cancer
Alternative Names	CO6A3_HUMAN; COL6A3; Collagen alpha-3(VI) chain; Collagen type VI alpha 3; Collagen VI alpha 3
Species	Homo sapiens (Human)
Source	in vitro E.coli expression system
Expression Region	2853-3176aa
Target Protein Sequence	HKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGNote: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight	48.5 kDa
Protein Length	Partial
Tag Info	N-terminal 6xHis-B2M-tagged
Form	Liquid or Lyophilized powder Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer	If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.Note: If you have any special requirement for the glycerol content, please remark when you place the order.If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs	Protein FAQs
Storage Condition	Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life	The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time	Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA	Please contact us to get it.

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Target Data

Function	Collagen VI acts as a cell-binding protein.
Gene References into Functions	COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process. PMID: 30066698 The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast PMID: 30014607 Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC. PMID: 29620224 COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function. PMID: 29465610 two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. PMID: 29894794 COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. PMID: 26687111 Overexpression of endotrophin led to a fibrotic program in white adipose tissue (WAT) adipocytes, a proinflammatory program in (WAT) macrophages, and upregulation of both profibrotic and proinflammatory genes in the stromal vascular fraction isolated from WAT. PMID: 27729337 Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD. PMID: 28403201 In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question. PMID: 26872670 Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples. PMID: 26338966 COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). PMID: 25635128 Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. PMID: 26004199 Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size PMID: 24719315 The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance. PMID: 25449070 This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression. PMID: 25337653 In UCMD, 1 mutation was indentified in Chinese patients. PMID: 24801232 Data indicate that endotrophin (COL6alpha3) levels are higher in diabetic patients. PMID: 24647224 Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix PMID: 11785962 Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. PMID: 11992252 The C-terminal Kunitz-type domain from the alpha3 chain of human type VI collagen (C5), a single amino-acid residue chain with three disulfide bridges, was refined at 0.9 A resolution in a monoclinic form PMID: 12077460 These results suggest that different alpha3(VI) chain isoforms, containing also domains of the N10-N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. PMID: 15965965 the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation PMID: 16613849 Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors. PMID: 17918257 in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain PMID: 19837927 Show More Hide All
Involvement in disease	Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Dystonia 27 (DYT27)
Subcellular Location	Secreted, extracellular space, extracellular matrix
Protein Families	Type VI collagen family
Database Links	HGNC: 2213 OMIM: 120250 KEGG: hsa:1293 STRING: 9606.ENSP00000295550 UniGene: Hs.233240

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