≡

Collagen Type VI Alpha 3 (COL6a3)

[Edit]

COL6-A3; Collagen Alpha-3(VI)chain

Collagen Type VI Alpha 3 (COL6a3)
CCC C148
HGNC 2213
MGI 88461
PubMed 23564457
UniProt P12111
Wiki COL6A3

Collagen alpha-3(VI) chain is one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains.

This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC148Hu01 Recombinant Collagen Type VI Alpha 3 (COL6a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC148Hu01 Polyclonal Antibody to Collagen Type VI Alpha 3 (COL6a3) WB; IHC; ICC; IP.
MAC148Hu22 Monoclonal Antibody to Collagen Type VI Alpha 3 (COL6a3) WB; IHC; ICC; IP.
Assay Kits SEC148Hu ELISA Kit for Collagen Type VI Alpha 3 (COL6a3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC148Mu01 Recombinant Collagen Type VI Alpha 3 (COL6a3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC148Mu01 Polyclonal Antibody to Collagen Type VI Alpha 3 (COL6a3) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Collagen Type VI Alpha 3 (COL6a3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Type VI Alpha 3 (COL6a3) ELISA Kit Customized Service Offer
  1. "Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors."EMBO J. 9:385-393(1990) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon."J. Biol. Chem. 267:24082-24089(1992) [PubMed] [Europe PMC] [Abstract]
  6. "Amino acid sequence of the triple-helical domain of human collagen type VI."J. Biol. Chem. 263:18601-18606(1988) [PubMed] [Europe PMC] [Abstract]
  7. "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones."Eur. J. Biochem. 168:309-317(1987) [PubMed] [Europe PMC] [Abstract]
  8. "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen."Am. J. Hum. Genet. 42:435-445(1988) [PubMed] [Europe PMC] [Abstract]
  9. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  13. "The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen."J. Mol. Biol. 246:609-617(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Structure and multiple conformations of the Kunitz-type domain from human type VI collagen alpha3(VI) chain in solution."Structure 4:195-209(1996) [PubMed] [Europe PMC] [Abstract]
  15. "Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain."Biochemistry 36:10439-10450(1997) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy."Am. J. Hum. Genet. 70:1446-1458(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy."Hum. Mol. Genet. 7:807-812(1998) [PubMed] [Europe PMC] [Abstract]
  18. "A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen."Neuromuscul. Disord. 9:264-271(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy."J. Med. Genet. 42:108-120(2005) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular consequences of dominant Bethlem myopathy collagen VI mutations."Ann. Neurol. 62:390-405(2007) [PubMed] [Europe PMC] [Abstract]