COL6A3 Protein, collagen, type VI, alpha 3

COL6A3

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COL6A3

Official Full Name collagen, type VI, alpha 3
Background This gene encodes the alpha-3 chain, 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, that are 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, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described.
Synonyms COL6A3; collagen, type VI, alpha 3; collagen alpha-3(VI) chain; collagen VI, alpha-3 polypeptide
    • Species :
    • Chicken
    • Human
    • Mouse
    • Source :
    • E.coli
    • HEK293
    • Human Cell
    • Mammalian Cell
    • Tag :
    • His
    • N/A
    Species Cat.# Product name Source (Host) Tag Protein Length Price
    Human COL6A3-264H Recombinant Human COL6A3, His-tagged Human Cell His
    Human COL6A3-341H Recombinant Human COL6A3 Protein, His-tagged E.coli His
    Human COL6A3-772H Recombinant Human COL6A3 Protein HEK293 N/A
    Mouse Col6a3-342M Recombinant Mouse Col6a3 Protein, His-tagged E.coli His
    Chicken COL6A3-7082C Recombinant Chicken COL6A3 Mammalian Cell His

    COL6A3 involved in several pathways and played different roles in them. We selected most pathways COL6A3 participated on our site, such as Assembly of collagen fibrils and other multimeric structures, Axon guidance, Collagen biosynthesis and modifying enzymes, which may be useful for your reference. Also, other proteins which involved in the same pathway with COL6A3 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

    Pathway Name Pathway Related Protein
    Assembly of collagen fibrils and other multimeric structures PLEC; COL6A1; ABHD1; COL11A1B; CD151; COL5A3A; LOX; COL1A1; COL1A2; COL4A3
    Axon guidance RAC2; NTN1; RHOD; CLTA; DUSP4; SEMA3A; ARPC1A; LRRC4; EPHA7; AP2M1
    Collagen biosynthesis and modifying enzymes TLL2; PPIB; COL4A4; COL13A1; COL1A2; EMID2; COL23A1; COL8A1; COL15A1B; COL2A1
    Collagen formation COL5A1; LOX; PCOLCE2B; SERPINH1A; COL2A1; COL15A1B; COL23A1; PCOLCEA; COL25A1; PCOLCE
    Developmental Biology NADL1.1; MED26; LGI4; ARPC2; AP2A2; NR6A1; CDH4; EFNB1; KCNQ3; GDNF
    ECM-receptor interaction ITGB1B.2; COL5A2A; COL5A1; LAMC2; COL6A3; LAMB4; COL4A3; ITGA6B; COL6A5; ITGB6
    Extracellular matrix organization DDR1; CEACAM8; ASPN; TRAPPC4; FBN2; DST; COL9A3; COL2A1; BGNA; DMP1
    Focal adhesion VCL; MYL10; COMP; AASS; PAK7; PPP1R12B; RHOAC; COL5A1; MYLK3; ITGB1A

    COL6A3 has several biochemical functions, for example, serine-type endopeptidase inhibitor activity. Some of the functions are cooperated with other proteins, some of the functions could acted by COL6A3 itself. We selected most functions COL6A3 had, and list some proteins which have the same functions with COL6A3. You can find most of the proteins on our site.

    Function Related Protein
    serine-type endopeptidase inhibitor activity SPINK8; SPINT2; APP; SERPINB1L1; PI3; SERPINA1A; WFDC10A; GOPC; ITIH6; SPINK3

    COL6A3 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with COL6A3 here. Most of them are supplied by our site. Hope this information will be useful for your research of COL6A3.

    PDIA3; DYSF; lsrA; alsD

    Yao, XD; Chen, X; et al. Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis. ORPHANET JOURNAL OF RARE DISEASES 7:-(2012).
    Heidet, L; Borza, DB; et al. A human-mouse chimera of the a3a4a5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice. AMERICAN JOURNAL OF PATHOLOGY 163:1633-1644(2003).

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