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Collagen Type VII (COL7)

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COL7-A1; COL7A1; EBD1; EBDCT; EBR1; Long-chain collagen; Epidermolysis Bullosa,Dystrophic,Dominant And Recessive; Collagen Alpha-1(VII)chain

Collagen Type VII (COL7)
CCC C147
HGNC 2214
MGI 88462
PubMed 22058051
UniProt Q02388
Wiki COL7A1

Collagen, type VII, alpha 1 encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma.

Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita.Type VII collagen is also found in the retina; its function in this organ is unknown.COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC147Hu01 Recombinant Collagen Type VII (COL7) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC147Hu01 Polyclonal Antibody to Collagen Type VII (COL7) WB
MAC147Hu22 Monoclonal Antibody to Collagen Type VII (COL7) WB; IHC; ICC; IP.
LAC147Hu71 Biotin-Linked Polyclonal Antibody to Collagen Type VII (COL7) WB; IHC; ICC.
MAC147Hu21 Monoclonal Antibody to Collagen Type VII (COL7) WB
LAC147Hu72 Biotin-Linked Monoclonal Antibody to Collagen Type VII (COL7) WB; IHC; ICC.
Assay Kits SEC147Hu ELISA Kit for Collagen Type VII (COL7) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC147Mu01 Recombinant Collagen Type VII (COL7) Positive Control; Immunogen; SDS-PAGE; WB.
RPC147Mu02 Recombinant Collagen Type VII (COL7) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC147Mu01 Polyclonal Antibody to Collagen Type VII (COL7) WB; IHC; ICC; IP.
PAC147Mu02 Polyclonal Antibody to Collagen Type VII (COL7) WB; IHC; ICC; IP.
Assay Kits SEC147Mu ELISA Kit for Collagen Type VII (COL7) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene."Genomics 21:169-179(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms."J. Biol. Chem. 269:20256-20262(1994) [PubMed] [Europe PMC] [Abstract]
  3. "The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor."Hum. Mol. Genet. 1:475-481(1992) [PubMed] [Europe PMC] [Abstract]
  4. "Molecular cloning and characterization of type VII collagen cDNA."Biochem. Biophys. Res. Commun. 183:958-963(1992) [PubMed] [Europe PMC] [Abstract]
  5. "Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix."J. Invest. Dermatol. 99:691-696(1992) [PubMed] [Europe PMC] [Abstract]
  6. "Human type VII collagen: cDNA cloning and chromosomal mapping of the gene."Proc. Natl. Acad. Sci. U.S.A. 88:6931-6935(1991) [PubMed] [Europe PMC] [Abstract]
  7. "The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene."Hum. Mol. Genet. 2:273-278(1993) [PubMed] [Europe PMC] [Abstract]
  8. "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin."J. Biol. Chem. 264:3822-3826(1989) [PubMed] [Europe PMC] [Abstract]
  9. "TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites."Cell 136:891-902(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)."Hum. Mutat. 10:338-347(1997) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome."Arch. Dermatol. 125:633-638(1989) [PubMed] [Europe PMC] [Abstract]
  13. "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa."Nat. Genet. 4:62-66(1993) [PubMed] [Europe PMC] [Abstract]
  14. "Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen."Proc. Natl. Acad. Sci. U.S.A. 91:3549-3553(1994) [PubMed] [Europe PMC] [Abstract]
  15. "Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen."Hum. Mol. Genet. 4:1579-1583(1995) [PubMed] [Europe PMC] [Abstract]
  16. "A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa."J. Invest. Dermatol. 104:438-440(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance."Am. J. Hum. Genet. 58:671-681(1996) [PubMed] [Europe PMC] [Abstract]
  18. "Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity."J. Invest. Dermatol. 106:119-124(1996) [PubMed] [Europe PMC] [Abstract]
  19. "Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa."J. Invest. Dermatol. 106:766-770(1996) [PubMed] [Europe PMC] [Abstract]
  20. "Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa."J. Invest. Dermatol. 107:171-177(1996) [PubMed] [Europe PMC] [Abstract]
  21. "Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation."Am. J. Hum. Genet. 61:599-610(1997) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa."Arch. Dermatol. Res. 289:640-645(1997) [PubMed] [Europe PMC] [Abstract]
  23. "Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene."Hum. Mol. Genet. 6:1125-1135(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering."J. Biol. Chem. 273:19228-19234(1998) [PubMed] [Europe PMC] [Abstract]
  25. "Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa."J. Invest. Dermatol. 111:534-537(1998) [PubMed] [Europe PMC] [Abstract]
  26. "Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa."J. Invest. Dermatol. 111:744-750(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling."J. Invest. Dermatol. 111:1210-1213(1998) [PubMed] [Europe PMC] [Abstract]
  28. "Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations."J. Invest. Dermatol. 111:1214-1219(1998) [PubMed] [Europe PMC] [Abstract]
  29. "Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?"Exp. Dermatol. 8:140-142(1999) [PubMed] [Europe PMC] [Abstract]
  30. "Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa."Exp. Dermatol. 8:143-145(1999) [PubMed] [Europe PMC] [Abstract]
  31. "Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study."Exp. Dermatol. 8:146-152(1999) [PubMed] [Europe PMC] [Abstract]
  32. "Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa."J. Invest. Dermatol. 112:398-400(1999) [PubMed] [Europe PMC] [Abstract]
  33. "Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)."J. Invest. Dermatol. 112:815-817(1999) [PubMed] [Europe PMC] [Abstract]
  34. "Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa."J. Invest. Dermatol. 112:984-987(1999) [PubMed] [Europe PMC] [Abstract]
  35. "Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype."J. Invest. Dermatol. 113:419-421(1999) [PubMed] [Europe PMC] [Abstract]
  36. "Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis."J. Invest. Dermatol. 113:673-686(1999) [PubMed] [Europe PMC] [Abstract]
  37. "A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa."Arch. Dermatol. Res. 292:159-163(2000) [PubMed] [Europe PMC] [Abstract]
  38. "Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa."Arch. Dermatol. Res. 292:477-481(2000) [PubMed] [Europe PMC] [Abstract]
  39. "Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa."J. Invest. Dermatol. 114:204-205(2000) [PubMed] [Europe PMC] [Abstract]
  40. "Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets."Br. J. Dermatol. 144:151-157(2001) [PubMed] [Europe PMC] [Abstract]
  41. "Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa."Arch. Dermatol. 138:269-271(2002) [PubMed] [Europe PMC] [Abstract]
  42. "EB simplex superficialis resulting from a mutation in the type VII collagen gene."J. Invest. Dermatol. 118:547-549(2002) [PubMed] [Europe PMC] [Abstract]
  43. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  44. "Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica."Hum. Genet. 127:116-117(2010) [PubMed] [Europe PMC] [Abstract]
  45. "Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations."J. Dermatol. Sci. 59:136-140(2010) [PubMed] [Europe PMC] [Abstract]