protein

Recombinant Human Collagen alpha-1(XVII) chain protein

MBS1265558

0.05 mg (E-Coli)

190 USD

Recombinant Protein

Recombinant Human Collagen alpha-1(XVII) chain protein

Collagen alpha-1(XVII) chain

180 kDa bullous pemphigoid antigen 2; Bullous pemphigoid antigen 2

collagen alpha-1(XVII) chain; Collagen alpha-1(XVII) chain; collagen alpha-1(XVII) chain; collagen type XVII alpha 1; 180 kDa bullous pemphigoid antigen 2; Bullous pemphigoid antigen 2

COL17A1

BP180; BPAG2

COL17A1; COL17A1; ERED; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2; BP180; BPAG2; LAD-1; 97 kDa LAD antigen; 97-LAD; LABD97

COHA1_HUMAN

E Coli

1253-1497

1497

YLTSPDVRSFIVGPPGPPGPQGPPGDSRLLSTDASHSRG
SSSSSHSSSVRRGSSYSSSMSTGGGGAGSLGAGGAFGEA
AGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAG
DLDYNELAVRVSESMQRQGLLQGMAYTVQGPPGQPGPQG
PPGISKVFSAYSNVTADLMDFFQTYGAIQGPPGQKGEMG
TPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAG
RRRRRSIAVKP

Greater than 90% as determined by SDS-PAGE.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Signal Transduction

May play a role in the integrity of hidesmosome and the attachment of basal keratinocytes to the underlying basent membrane. The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Cloning and primary structural analysis of the bullous pemphigoid autoantigen, BP180.Giudice G.J., Emery D.J., Diaz L.A.J. Invest. Dermatol. 99:243-250(1992) Cloning of the human type XVII collagen gene (COL17A1) , and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.Gatalica B., Pulkkinen L., Li K., Kuokkanen K., Ryynaenen M., McGrath J.A., Uitto J.Am. J. Hum. Genet. 60:352-365(1997) The DNA sequence and comparative analysis of human chromosome 10.Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.Nature 429:375-381(2004) Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium.Li K.H., Sawamura D., Giudice G.J., Diaz L.A., Mattei M.-G., Chu M.-L., Uitto J.J. Biol. Chem. 266:24064-24069(1991) The 97-kDa (LABD97) and 120-kDa (LAD-1) fragments of bullous pemphigoid antigen 180/type XVII collagen have different N-termini.Hirako Y., Nishizawa Y., Sitaru C., Opitz A., Marcus K., Meyer H.E., Butt E., Owaribe K., Zillikens D.J. Invest. Dermatol. 121:1554-1556(2003) The 97 kDa linear IgA bullous disease antigen is identical to a portion of the extracellular domain of the 180 kDa bullous pemphigoid antigen, BPAg2.Zone J.J., Taylor T.B., Meyer L.J., Petersen M.J.J. Invest. Dermatol. 110:207-210(1998) LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120-kDa anchoring filament protein synthesized by epidermal cells.Marinkovich M.P., Taylor T.B., Keene D.R., Burgeson R.E., Zone J.J.J. Invest. Dermatol. 106:734-738(1996) ErratumMarinkovich M.P., Taylor T.B., Keene D.R., Burgeson R.E., Zone J.J.J. Invest. Dermatol. 106:1343-1343(1996) 97-kDa linear IgA bullous dermatosis (LAD) antigen localizes to the lamina lucida of the epidermal basement membrane.Ishiko A., Shimizu H., Masunaga T., Hashimoto T., Dmochowski M., Wojnarowska F., Bhogal B.S., Black M.M., Nishikawa T.J. Invest. Dermatol. 106:739-743(1996) Evidence that the 180-kD bullous pemphigoid antigen is a transmembrane collagen, type XVII, in a triple-helical conformation and in type II transmembrane topography.Limardo M., Arffman A., Aho S., Utto J.J. Invest. Dermatol. 106:860-860(1996) Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain.Schaecke H., Schumann H., Hammami-Hauasli N., Raghunath M., Bruckner-Tuderman L.J. Biol. Chem. 273:25937-25943(1998) The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome.Hopkinson S.B., Jones J.C.Mol. Biol. Cell 11:277-286(2000) Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs.Franzke C.-W., Tasanen K., Schaecke H., Zhou Z., Tryggvason K., Mauch C., Zigrino P., Sunnarborg S., Lee D.C., Fahrenholz F., Bruckner-Tuderman L.EMBO J. 21:5026-5035(2002) Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.Koster J., Geerts D., Favre B., Borradori L., Sonnenberg A.J. Cell Sci. 116:387-399(2003) Extracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain shedding.Zimina E.P., Fritsch A., Schermer B., Bakulina A.Y., Bashkurov M., Benzing T., Bruckner-Tuderman L.J. Biol. Chem. 282:22737-22746(2007) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.McGrath J.A., Gatalica B., Li K., Dunnill M.G.S., McMillan J.R., Christiano A.M., Eady R.A.J., Uitto J.Am. J. Pathol. 148:1787-1796(1996) Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene relation to biological and clinical phenotypes of junctional epidermolysis bullosa.Schumann H., Hammami-Hauasli N., Pulkkinen L., Mauviel A., Kuester W., Luethi U., Owaribe K., Uitto J., Bruckner-Tuderman L.Am. J. Hum. Genet. 60:1344-1353(1997) Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.Tasanen K., Eble J.A., Aumailley M., Schumann H., Baetge J., Tu H., Bruckner P., Bruckner-Tuderman L.J. Biol. Chem. 275:3093-3099(2000) Hemizygosity for a glycine substitution in collagen XVII unfolding and degradation of the ectodomain.Tasanen K., Floeth M., Schumann H., Bruckner-Tuderman L.J. Invest. Dermatol. 115:207-212(2000) A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.Wu Y., Li G., Zhu X.J. Dermatol. Sci. 28:181-186(2002)

119829187

NP_000485.3

NM_000494.3

Q9UMD9

28.5kD

Alpha6-Beta4 Integrin Signaling Pathway (198807); Cell Junction Organization Pathway (1270232); Cell-Cell Communication Pathway (1270231); Collagen Biosynthesis And Modifying Enzymes Pathway (1270246); Collagen Degradation Pathway (1270259); Collagen Formation Pathway (1270245); Degradation Of The Extracellular Matrix Pathway (1270257); Extracellular Matrix Organization Pathway (1270244); Protein Digestion And Absorption Pathway (172847); Protein Digestion And Absorption Pathway (171868)

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]

COL17A1: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane. Defects in COL17A1 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB). GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Extracellular matrix. Chromosomal Location of Human Ortholog: 10q24.3. Cellular Component: basement membrane; collagen; endoplasmic reticulum lumen; extracellular region; hemidesmosome; integral to plasma membrane; intercellular junction; plasma membrane. Molecular Function: protein binding. Biological Process: cell-matrix adhesion; collagen catabolic process; epidermis development; extracellular matrix disassembly; extracellular matrix organization and biogenesis; hemidesmosome assembly; regulation of immune response. Disease: Epidermolysis Bullosa, Junctional, Non-herlitz Type; Epithelial Recurrent Erosion Dystrophy

0.05 mg (E-Coli)

190 USD

0.2 mg (E-Coli)

460

0.5 mg (E-Coli)

750

1 mg (E-Coli)

1180