Recombinant Human Collagen alpha-3 (COL4A3) Protein (His)

Name: Recombinant Human Collagen alpha-3 (COL4A3) Protein (His)
Brand: Beta LifeScience
SKU: BLC-04498P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Collagen alpha-3 (COL4A3) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q01955
Target Symbol	COL4A3
Synonyms	Alpha 3 type IV collagen; Alpha3 type IV collagen; CO4A3_HUMAN; COL4A 3; Col4a3; Collagen alpha 3(IV) chain; Collagen IV alpha 3 polypeptide; Collagen type IV alpha 3 (Goodpasture antigen); Collagen type IV alpha 3; Collagen type IV alpha 3 chain; Goodpasture antigen; OTTHUMP00000195044; Tumstatin
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	GLKGKRGDSGSPATWTTRGFVFTRHSQTTAIPSCPEGTVPLYSGFSFLFVQGNQRAHGQDLGTLGSCLQRFTTMPFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKK
Expression Range	1427-1668aa
Protein Length	Partial
Mol. Weight	30.6 kDa
Research Area	Cell Adhesion
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.; Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.
Subcellular Location	Secreted, extracellular space, extracellular matrix, basement membrane.
Protein Families	Type IV collagen family
Database References	HGNC: 2204 OMIM: 104200 KEGG: hsa:1285 STRING: 9606.ENSP00000379823 UniGene: PMID: 28152559 Results showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria. PMID: 29742505 In a large Spanish family with Alport sysndrome, carriers of certain mutations in the COL4A3 gene were more severely affected and had earlier onset of the disease compared to non-carriers of these mutations. PMID: 29089023 For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene. PMID: 28674241 Two families showed COL4A3/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5) combined with an inherited mutation (COL4A3) triggered a more severe phenotype PMID: 27859054 Alport syndrome is the result of mutations in any of three type IV collagen genes, COL4A3, COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. (Review) PMID: 27576055 These findings indicate that the heterozygous mutations in COL4A3 or COL4A4 may cause ESRD on their own, although secondary factors, such as environmental factors or unknown genetic changes, might also contribute to the phenotype of kidney disease in patients with ADAS. PMID: 27281700 This study indicates that in our population, the COL4A3 rs55703767 polymorphism decreased the risk of KC. However, the TIMP-1 rs6609533 polymorphism was associated with an increased risk of KC. PMID: 28197741 mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome PMID: 28542346 COL4A3 gene expression is negatively regulated by ZEB1 binding to E2 box motifs in the COL4A3 promoter region. PMID: 27537263 COL4A3 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267 New COL4A3 mutations among Portuguese patients with collagen IV-related nephropathies were identified in 18 unrelated families. PMID: 25307543 The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations PMID: 26138234 Letter/Case Report: novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. PMID: 26194984 we identified seven families with associated mutations in COL4A3 and COL4A4 genes and four families with associated mutations in COL4A4 and COL4A5. We did not find kindreds with digenic inheritance attributable to mutations in COL4A3 and COL4A5 PMID: 25575550 Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response cascade. PMID: 25514610 We found that 7 out of 70 families (10%) with familial focal segmental glomerulosclerosis in our cohort have rare variants in COL4A3 and COL4A4. PMID: 25229338 COL4A3 mutations cause focal segmental glomerulosclerosis. PMID: 25596306 A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers PMID: 25450602 In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in all affected family members, who had disease ranging from isolated microscopic hematuria to end stage renal disease. PMID: 25381091 10 mutation in COL4A3 associated with autosomal dominant Alport syndrome. PMID: 24033287 We could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in keratoconus risk in Greek population. PMID: 25083577 A homozygous COL4A3 mutation, c.40_63del, was identified in Alport syndrome individuals with mutant alleles inherited from each parent on partially conserved haplotypes. PMID: 23927549 Release of recombinant tumstatin in transgenic platelet granules led to antiangiogenic effect of platelets. PMID: 24655355 COL4A3 overexpression in podocytes caused chain retention in the endoplasmic reticulum associated with activation of the unfolded protein response. Mutant COL4A3 chains differentially activated the UPR pathway in human and transfected mouse cells. PMID: 24262798 Report monoclonal antibody against the collagen type IV alpha3NC1 domain as a marker for glomerular disease. PMID: 23515049 Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4 in Alport syndrome. PMID: 24052634 Maintained expression of the alpha3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome. PMID: 23371956 Quaternary epitopes within alpha345NC1 hexamers may initiate alloimmune responses after transplant in X-linked Alport patients. PMID: 23620401 present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease PMID: 23297803 Intramolecular epitope spreading might occur before the onset of human antiglomerular basement membrane disease; autoimmunity to E(A) and E(B), especially E(B), was crucial for kidney dysfunction. PMID: 23085731 study found an association between lower COL4A3 mRNA expression levels and improved survival after treatment with a combination Gem/CDDP regimen for patients with advanced stage non-small cell lung cancer PMID: 23108892 COL4A3 expression is negatively associated with a favorable prognosis of overall, advanced, and intestinal-type gastric carcinomas. PMID: 22939955 Antibodies against linear epitopes on the Goodpasture autoantigen could be detected in human anti-glomerular basement membrane disease and were associated with kidney injury. PMID: 22461538 Tumstatin-mRNA expression level correlates with prognosis, which suggests that tumstatin-mRNA is a new potential independent marker of favorable prognosis in non-small cell lung cancer. PMID: 22473740 Circulating anti-GBM antibodies undetectable by ELISA could recognize cryptic and conformation-dependent epitopes restricted on col4a3. PMID: 21854504 Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families. PMID: 21143337 The absence of pathogenic mutations in COL4A3 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder PMID: 20664914 a novel heterozygous mutation p.G291E in exon 15 of the COL4A3 in the family who presented with hematuria and mild proteinuria. PMID: 20177710 The expression of tumstatin gene was down-regulated in renal carcinoma tissues and cells. PMID: 19688274 This is the first mutational screening of COL4A3 and COL4A4 genes in keratoconus patients to establish the status of these genes and compare them to a control population. PMID: 20029656 the repetitive nature and relatedness of the alpha3(IV)NC1 antigenic epitopes facilitate cross-linking of pathogenic Ab, in vivo, by allowing both IgG Fab to bind to the basement membrane PMID: 19786737 COL4A3 mutation: from familial hematuria to autosomal-dominant or recessive Alport syndrome. PMID: 12028435 the quaternary organization of Goodpasture antigen demonstrates the molecular basis for the sequestration of epitopes PMID: 12193605 No collagen alpha3(IV) or alpha4(IV) in lens capsules of 54-day human embryos, while collagen alpha3(IV) and alpha4(IV) were detected in adult humans. PMID: 12225806 tumstatin binds to alpha v beta 3 integrin in a vitronectin/fibronectin/RGD cyclic peptide independent manner PMID: 12682293 COL4A3 gene is associated with Alport's syndrome in which males and females are severely affected. PMID: 12768082 In kidney, when expressed onto Col4a3(-/-) background, human alpha3(IV) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV) was expressed. All three chains required for network assembly. PMID: 14507670 Not only nephritogenic epitope itself, but flanking sequences and conformational context of nephritogenic epitope may influence its ability to cause glomerulonephritis. (alpha3(IV)NC1) PMID: 14633133 COL4A3 mutations are common in thin basement membrane nephropathy PMID: 14871398

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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