COL3A1 cdna clone
COL3A1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Uniprot Description
CO3A1: Collagen type III occurs in most soft connective tissues along with type I collagen. Defects in COL3A1 are a cause of Ehlers-Danlos syndrome type 3 (EDS3); also known as benign hypermobility syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS3 is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. Defects in COL3A1 are the cause of Ehlers-Danlos syndrome type 4 (EDS4). EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS4 is the most severe form of the disease. It is characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. Defects in COL3A1 are a cause of susceptibility to aortic aneurysm abdominal (AAA). AAA is a common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. Belongs to the fibrillar collagen family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Cell adhesion; Motility/polarity/chemotaxis; Extracellular matrix; Secreted
Chromosomal Location of Human Ortholog: 2q31
Cellular Component: collagen type III; endoplasmic reticulum lumen; extracellular matrix; extracellular region; extracellular space
Molecular Function: extracellular matrix structural constituent; integrin binding; platelet-derived growth factor binding; protein binding
Biological Process: cell-matrix adhesion; cerebral cortex development; collagen catabolic process; collagen fibril organization; extracellular matrix organization and biogenesis; fibril organization and biogenesis; heart development; integrin-mediated signaling pathway; negative regulation of immune response; peptide cross-linking; positive regulation of Rho protein signal transduction; regulation of immune response; response to cytokine stimulus; response to radiation; skin development; transforming growth factor beta receptor signaling pathway; wound healing
Disease: Ehlers-danlos Syndrome, Type Iii; Ehlers-danlos Syndrome, Type Iv, Autosomal Dominant
Research Articles on COL3A1
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Product Notes
The COL3A1 col3a1 (Catalog #AAA1272896) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgatgagct ttgtgcaaaa ggggagctgg ctacttctcg ctctgcttca tcccactatt attttggcac aacaggaagc tgttgaagga ggatgttccc atcttggtca gtcctatgcg gatagagatg tctggaagcc agaaccatgc caaatatgtg tctgtgactc aggatccgtt ctctgcgatg acataatatg tgacgatcaa gaattagact gccccaaccc agaaattcca tttggagaat gttgtgcagt ttgcccacag cctccaactg ctcctactcg ccctcctaat ggtcaaggac ctcaaggccc caagggagat ccaggccctc ctggtattcc tgggagaaat ggtgaccctg gtattccagg acaaccaggg tcccctggtt ctcctggccc ccctggaatc tgtgaatcat gccctactgg tcctcagaac tattctcccc agtatgattc atatgatgtc aagtctggag tagcagtagg aggactcgca ggctatcctg gaccagctgg ccccccaggc cctcccggtc cccctggtac atctggtcat cctggttccc ctggatctcc aggataccaa ggaccccctg gtgaacctgg gcaagctggt ccttcaggcc ctccaggacc tcctggtgct ataggtccat ctggtcctgc tggaaaagat ggagaatcag gtagacccgg acgacctgga gagcgaggat tgcctggacc tccaggtatc aaaggtccag ctgggatacc tggattccct ggtatgaaag gacacagagg cttcgatgga cgaaatggag aaaagggtga aacaggtgct cctggattaa agggtgaaaa tggtcttcca ggcgaaaatg gagctcctgg acccatgggt ccaagagggg ctcctggtga gcgaggacgg ccaggacttc ctggggctgc aggtgctcgg ggtaatgacg gtgctcgagg cagtgatggt caaccaggcc ctcctggtcc tcctggaact gccggattcc ctggatcccc tggtgctaag ggtgaagttg gacctgcagg gtctcctggt tcaaatggtg cccctggaca aagaggagaa cctggacctc agggacacgc tggtgctcaa ggtcctcctg gccctcctgg gattaatggt agtcctggtg gtaaaggcga aatgggtccc gctggcattc ctggagctcc tggactgatg ggagcccggg gtcctccagg accagccggt gctaatggtg ctcctggact gcgaggtggt gcaggtgagc ctggtaagaa tggtgccaaa ggagagcccg gaccacgtgg tgaacgcggt gaggctggta ttccaggtgt tccaggagct aaaggcgaag atggcaagga tggatcacct ggagaacctg gtgcaaatgg gcttccagga gctgcaggag aaaggggtgc ccctgggttc cgaggacctg ctggaccaaa tggcatccca ggagaaaagg gtcctgctgg agagcgtggt gctccaggcc ctgcagggcc cagaggagct gctggagaac ctggcagaga tggcgtccct ggaggtccag gaatgagggg catgcccgga agtccaggag gaccaggaag tgatgggaaa ccagggcctc ccggaagtca aggagaaagt ggtcgaccag gtcctcctgg gccatctggt ccccgaggtc agcctggtgt catgggcttc cccggtccta aaggaaatga tggtgctcct ggtaagaatg gagaacgagg tggccctgga ggacctggcc ctcagggtcc tcctggaaag aatggtgaaa ctggacctca gggaccccca gggcctactg ggcctggtgg tgacaaagga gacacaggac cccctggtcc acaaggatta caaggcttgc ctggtacagg tggtcctcca ggagaaaatg gaaaacctgg ggaaccaggt ccaaagggtg atgccggtgc acctggagct ccaggaggca agggtgatgc tggtgcccct ggtgaacgtg gacctcctgg attggcaggg gccccaggac ttagaggtgg agctggtccc cctggtcccg aaggaggaaa gggtgctgct ggtcctcctg ggccacctgg tgctgctggt actcctggtc tgcaaggaat gcctggagaa agaggaggtc ttggaagtcc tggtccaaag ggtgacaagg gtgaaccagg cggtccaggt gctgatggtg tcccagggaa agatggccca aggggtccta ctggtcctat tggtcctcct ggcccagctg gccagcctgg agataagggt gaaggtggtg cccccggact tccaggtata gctggacctc gtggtagccc tggtgagaga ggtgaaactg gccctccagg acctgctggt ttccctggtg ctcctggaca gaatggtgaa cctggtggta aaggagaaag aggggctccg ggtgagaaag gtgaaggagg ccctcctgga gttgcaggac ctcctggcaa agatggaacc agtggacatc caggtcccat tggaccacca gggcctcgag gtaacagagg tgaaagagga tctgagggct ccccaggcca cccagggcaa ccaggccctc ctggacctcc tggtgcccct ggtccttgct gtggtggtgt tggagccgct gccattgctg ggattggagg tgaaaaagct ggcggttttg ccccgtatta tggagatgaa ccaatggatt tcaaaatcaa caccgatgag attatgactt cactcaagtc tgttaatgga caaatagaaa gcctcattag tcctgatggt tctcgtaaaa accccgctag aaactgcaga gacctgaaat tctgccatcc tgaactcaag agtggagaat actgggttga ccctaaccaa ggatgcaaat tggatgctat caaggtattc tgtaatatgg aaactgggga aacatgcata agtgccaatc ctttgaatgt tccacggaaa cactggtgga cagattctag tgctgagaag aaacacgttt ggtttggaga gtccatggat ggtggttttc agtttagcta cggcaatcct gaacttcctg aagatgtcct tgatgtgcag ctggcattcc ttcgacttct ctccagccga gcttcccaga acatcacata tcactgcaaa aatagcattg catacatgga tcaggccagt ggaaatgtaa agaaggccct gaagctgatg gggtcaaatg aaggtgaatt caaggctgaa ggaaatagca aattcaccta cacagttctg gaggatggtt gcacgaaaca cactggggaa tggagcaaaa cagtctttga atatcgaaca cgcaaggctg tgagactacc tattgtagat attgcaccct atgacattgg tggtcctgat caagaatttg gtgtggacgt tggccctgtt tgctttttat aa. It is sometimes possible for the material contained within the vial of "COL3A1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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