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Collagen alpha-1(XVII) chain (180 kDa bullous pemphigoid antigen 2) (Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen (120 kDa linear IgA dermatosis antigen) (Linear IgA disease antigen 1) (LAD-1); 97 kDa linear IgA disease antigen (97 kDa linear IgA bullous dermatosis antigen) (97 kDa LAD antigen) (97-LAD) (Linear IgA bullous disease antigen of 97 kDa) (LABD97)]

 COHA1_HUMAN             Reviewed;        1497 AA.
Q9UMD9; Q02802; Q5JV36; Q99018; Q9NQK9; Q9UC14;
02-FEB-2004, integrated into UniProtKB/Swiss-Prot.
01-MAY-2007, sequence version 3.
22-NOV-2017, entry version 160.
RecName: Full=Collagen alpha-1(XVII) chain;
AltName: Full=180 kDa bullous pemphigoid antigen 2;
AltName: Full=Bullous pemphigoid antigen 2;
Contains:
RecName: Full=120 kDa linear IgA disease antigen;
AltName: Full=120 kDa linear IgA dermatosis antigen;
AltName: Full=Linear IgA disease antigen 1;
Short=LAD-1;
Contains:
RecName: Full=97 kDa linear IgA disease antigen;
AltName: Full=97 kDa linear IgA bullous dermatosis antigen;
Short=97 kDa LAD antigen;
Short=97-LAD;
AltName: Full=Linear IgA bullous disease antigen of 97 kDa;
Short=LABD97;
Name=COL17A1; Synonyms=BP180, BPAG2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND
VARIANT SER-428.
TISSUE=Foreskin;
PubMed=1324962; DOI=10.1111/1523-1747.ep12616580;
Giudice G.J., Emery D.J., Diaz L.A.;
"Cloning and primary structural analysis of the bullous pemphigoid
autoantigen, BP180.";
J. Invest. Dermatol. 99:243-250(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS ILE-231;
THR-238; SER-428; VAL-703 AND GLY-1370.
PubMed=9012408;
Gatalica B., Pulkkinen L., Li K., Kuokkanen K., Ryynaenen M.,
McGrath J.A., Uitto J.;
"Cloning of the human type XVII collagen gene (COL17A1), and detection
of novel mutations in generalized atrophic benign epidermolysis
bullosa.";
Am. J. Hum. Genet. 60:352-365(1997).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164054; DOI=10.1038/nature02462;
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.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-390, AND VARIANT MET-210.
TISSUE=Pancreas;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 508-856, AND TISSUE SPECIFICITY.
PubMed=1748679;
Li K.H., Sawamura D., Giudice G.J., Diaz L.A., Mattei M.-G.,
Chu M.-L., Uitto J.;
"Genomic organization of collagenous domains and chromosomal
assignment of human 180-kDa bullous pemphigoid antigen-2, a novel
collagen of stratified squamous epithelium.";
J. Biol. Chem. 266:24064-24069(1991).
[6]
PROTEIN SEQUENCE OF 524-535.
PubMed=14675210; DOI=10.1046/j.1523-1747.2003.12607.x;
Hirako Y., Nishizawa Y., Sitaru C., Opitz A., Marcus K., Meyer H.E.,
Butt E., Owaribe K., Zillikens D.;
"The 97-kDa (LABD97) and 120-kDa (LAD-1) fragments of bullous
pemphigoid antigen 180/type XVII collagen have different N-termini.";
J. Invest. Dermatol. 121:1554-1556(2003).
[7]
PROTEIN SEQUENCE OF 531-546; 554-565; 585-605; 647-666; 680-688;
689-703; 755-765; 842-860; 880-891; 1016-1028; 1062-1069; 1102-1108;
1134-1142; 1227-1247 AND 1248-1260.
PubMed=9506436; DOI=10.1046/j.1523-1747.1998.00129.x;
Zone J.J., Taylor T.B., Meyer L.J., Petersen M.J.;
"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.";
J. Invest. Dermatol. 110:207-210(1998).
[8]
SUBCELLULAR LOCATION, FUNCTION, AND TISSUE SPECIFICITY.
PubMed=8618013; DOI=10.1111/1523-1747.ep12345782;
Marinkovich M.P., Taylor T.B., Keene D.R., Burgeson R.E., Zone J.J.;
"LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120-
kDa anchoring filament protein synthesized by epidermal cells.";
J. Invest. Dermatol. 106:734-738(1996).
[9]
ERRATUM.
Marinkovich M.P., Taylor T.B., Keene D.R., Burgeson R.E., Zone J.J.;
J. Invest. Dermatol. 106:1343-1343(1996).
[10]
SUBCELLULAR LOCATION.
PubMed=8618014; DOI=10.1111/1523-1747.ep12345793;
Ishiko A., Shimizu H., Masunaga T., Hashimoto T., Dmochowski M.,
Wojnarowska F., Bhogal B.S., Black M.M., Nishikawa T.;
"97-kDa linear IgA bullous dermatosis (LAD) antigen localizes to the
lamina lucida of the epidermal basement membrane.";
J. Invest. Dermatol. 106:739-743(1996).
[11]
SUBCELLULAR LOCATION.
Limardo M., Arffman A., Aho S., Utto J.;
"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.";
J. Invest. Dermatol. 106:860-860(1996).
[12]
SUBUNIT, PROTEOLYTIC PROCESSING, GLYCOSYLATION AT ASN-1421, AND
DOMAINS.
PubMed=9748270; DOI=10.1074/jbc.273.40.25937;
Schaecke H., Schumann H., Hammami-Hauasli N., Raghunath M.,
Bruckner-Tuderman L.;
"Two forms of collagen XVII in keratinocytes. A full-length
transmembrane protein and a soluble ectodomain.";
J. Biol. Chem. 273:25937-25943(1998).
[13]
INTERACTION WITH DSP.
PubMed=10637308; DOI=10.1091/mbc.11.1.277;
Hopkinson S.B., Jones J.C.;
"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.";
Mol. Biol. Cell 11:277-286(2000).
[14]
SHEDDING.
PubMed=12356719; DOI=10.1093/emboj/cdf532;
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.;
"Transmembrane collagen XVII, an epithelial adhesion protein, is shed
from the cell surface by ADAMs.";
EMBO J. 21:5026-5035(2002).
[15]
FUNCTION, INTERACTION WITH DSP; DST; ITGB4 AND PLEC, AND SUBCELLULAR
LOCATION.
PubMed=12482924; DOI=10.1242/jcs.00241;
Koster J., Geerts D., Favre B., Borradori L., Sonnenberg A.;
"Analysis of the interactions between BP180, BP230, plectin and the
integrin alpha6beta4 important for hemidesmosome assembly.";
J. Cell Sci. 116:387-399(2003).
[16]
PHOSPHORYLATION AT SER-544.
PubMed=17545155; DOI=10.1074/jbc.M701937200;
Zimina E.P., Fritsch A., Schermer B., Bakulina A.Y., Bashkurov M.,
Benzing T., Bruckner-Tuderman L.;
"Extracellular phosphorylation of collagen XVII by ecto-casein kinase
2 inhibits ectodomain shedding.";
J. Biol. Chem. 282:22737-22746(2007).
[17]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[18]
TISSUE SPECIFICITY, INVOLVEMENT IN ERED, AND VARIANT ERED ILE-939.
PubMed=25676728; DOI=10.1002/humu.22764;
Jonsson F., Bystroem B., Davidson A.E., Backman L.J., Kellgren T.G.,
Tuft S.J., Koskela T., Ryden P., Sandgren O., Danielson P.,
Hardcastle A.J., Golovleva I.;
"Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial
recurrent erosion dystrophy (ERED).";
Hum. Mutat. 36:463-473(2015).
[19]
VARIANT GABEB VAL-627.
PubMed=8669466;
McGrath J.A., Gatalica B., Li K., Dunnill M.G.S., McMillan J.R.,
Christiano A.M., Eady R.A.J., Uitto J.;
"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.";
Am. J. Pathol. 148:1787-1796(1996).
[20]
VARIANT GABEB GLN-1303.
PubMed=9199555; DOI=10.1086/515463;
Schumann H., Hammami-Hauasli N., Pulkkinen L., Mauviel A., Kuester W.,
Luethi U., Owaribe K., Uitto J., Bruckner-Tuderman L.;
"Three novel homozygous point mutations and a new polymorphism in the
COL17A1 gene: relation to biological and clinical phenotypes of
junctional epidermolysis bullosa.";
Am. J. Hum. Genet. 60:1344-1353(1997).
[21]
VARIANT GABEB VAL-627.
PubMed=10652291; DOI=10.1074/jbc.275.5.3093;
Tasanen K., Eble J.A., Aumailley M., Schumann H., Baetge J., Tu H.,
Bruckner P., Bruckner-Tuderman L.;
"Collagen XVII is destabilized by a glycine substitution mutation in
the cell adhesion domain Col15.";
J. Biol. Chem. 275:3093-3099(2000).
[22]
VARIANT GABEB ASP-633.
PubMed=10951237; DOI=10.1046/j.1523-1747.2000.00049.x;
Tasanen K., Floeth M., Schumann H., Bruckner-Tuderman L.;
"Hemizygosity for a glycine substitution in collagen XVII: unfolding
and degradation of the ectodomain.";
J. Invest. Dermatol. 115:207-212(2000).
[23]
VARIANT GABEB CYS-265, AND VARIANT ILE-231.
PubMed=11912005; DOI=10.1016/S0923-1811(01)00163-3;
Wu Y., Li G., Zhu X.;
"A novel homozygous point mutation in the COL17A1 gene in a Chinese
family with generalized atrophic benign epidermolysis bullosa.";
J. Dermatol. Sci. 28:181-186(2002).
-!- FUNCTION: May play a role in the integrity of hemidesmosome and
the attachment of basal keratinocytes to the underlying basement
membrane.
-!- FUNCTION: 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.
-!- SUBUNIT: Homotrimers of alpha 1(XVII)chains. Interacts (via
cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts
(via cytoplasmic region) with DST isoform 3 (via N-terminus).
Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic
region) with DSP. {ECO:0000269|PubMed:10637308,
ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:9748270}.
-!- SUBCELLULAR LOCATION: Cell junction, hemidesmosome. Membrane;
Single-pass type II membrane protein. Note=Localized along the
plasma membrane of the hemidesmosome.
-!- SUBCELLULAR LOCATION: 120 kDa linear IgA disease antigen:
Secreted, extracellular space, extracellular matrix, basement
membrane. Note=Exclusively localized to anchoring filaments.
Localized to the epidermal side of split skin.
-!- SUBCELLULAR LOCATION: 97 kDa linear IgA disease antigen: Secreted,
extracellular space, extracellular matrix, basement membrane.
Note=Localized in the lamina lucida beneath the hemidesmosomes.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9UMD9-1; Sequence=Displayed;
Name=2;
IsoId=Q9UMD9-2; Sequence=VSP_024940, VSP_024941;
Note=Gene prediction based on EST data.;
-!- TISSUE SPECIFICITY: Detected in skin (PubMed:8618013). In the
cornea, it is detected in the epithelial basement membrane, the
epithelial cells, and at a lower level in stromal cells (at
protein level) (PubMed:25676728). Stratified squamous epithelia.
Found in hemidesmosomes. Expressed in cornea, oral mucosa,
esophagus, intestine, kidney collecting ducts, ureter, bladder,
urethra and thymus but is absent in lung, blood vessels, skeletal
muscle and nerves. {ECO:0000269|PubMed:1748679,
ECO:0000269|PubMed:25676728, ECO:0000269|PubMed:8618013}.
-!- PTM: The intracellular/endo domain is disulfide-linked.
-!- PTM: Prolines at the third position of the tripeptide repeating
unit (G-X-Y) are hydroxylated in some or all of the chains.
-!- PTM: The ectodomain is shedded from the surface of keratinocytes
resulting in a 120-kDa soluble form, also named as 120 kDa linear
IgA disease antigen. The shedding is mediated by membrane-bound
metalloproteases. This cleavage is inhibited by phosphorylation at
Ser-544. {ECO:0000269|PubMed:9748270}.
-!- DISEASE: Generalized atrophic benign epidermolysis bullosa (GABEB)
[MIM:226650]: A non-lethal, adult form of junctional epidermolysis
bullosa characterized by life-long blistering of the skin,
associated with hair and tooth abnormalities.
{ECO:0000269|PubMed:10652291, ECO:0000269|PubMed:10951237,
ECO:0000269|PubMed:11912005, ECO:0000269|PubMed:8669466,
ECO:0000269|PubMed:9199555}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Epithelial recurrent erosion dystrophy (ERED)
[MIM:122400]: A corneal dystrophy characterized by recurrent
episodes of epithelial erosions from childhood, with occasional
impairment of vision. Most patients have attacks of redness,
photophobia, epiphora, and ocular pain. Exposure to sunlight or
draught, dust and smoke and lack of sleep can precipitate attacks.
{ECO:0000269|PubMed:25676728}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- MISCELLANEOUS: Both the 120 kDa linear IgA disease antigen and the
97 kDa linear IgA disease antigen of COL17A1, represent major
antigenic targets of autoantibodies in patients with linear IgA
disease (LAD). LAD is a subepidermal blistering disorder
characterized by tissue-bound and circulating IgA autoantibodies
to the dermal-epidermal junction. These IgA autoantibodies
preferentially react with 97 and the 120 kDa forms, but not with
the full-length COL17A1, suggesting that the cleavage of the
ectodomain generates novel autoantigenic epitopes.
-!- SEQUENCE CAUTION:
Sequence=AAA35605.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=AAH04478.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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EMBL; M91669; AAA35605.1; ALT_INIT; mRNA.
EMBL; U76604; AAB51499.1; -; Genomic_DNA.
EMBL; U76565; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76566; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76567; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76568; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76569; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76570; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76571; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76572; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76573; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76574; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76575; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76576; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76577; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76578; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76579; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76580; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76581; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76582; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76583; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76584; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76585; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76586; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76587; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76588; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76589; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76590; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76591; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76592; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76593; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76594; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76595; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76596; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76597; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76598; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76599; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76600; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76601; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76602; AAB51499.1; JOINED; Genomic_DNA.
EMBL; U76603; AAB51499.1; JOINED; Genomic_DNA.
EMBL; AL138761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC004478; AAH04478.1; ALT_SEQ; mRNA.
EMBL; M63730; AAA51839.1; -; mRNA.
CCDS; CCDS7554.1; -. [Q9UMD9-1]
PIR; I56325; A61262.
RefSeq; NP_000485.3; NM_000494.3. [Q9UMD9-1]
UniGene; Hs.117938; -.
UniGene; Hs.732773; -.
BioGrid; 107704; 9.
IntAct; Q9UMD9; 7.
MINT; MINT-119869; -.
STRING; 9606.ENSP00000340937; -.
Allergome; 8213; Hom s BP180.
iPTMnet; Q9UMD9; -.
PhosphoSitePlus; Q9UMD9; -.
SwissPalm; Q9UMD9; -.
BioMuta; COL17A1; -.
DMDM; 146345399; -.
EPD; Q9UMD9; -.
PaxDb; Q9UMD9; -.
PeptideAtlas; Q9UMD9; -.
PRIDE; Q9UMD9; -.
DNASU; 1308; -.
Ensembl; ENST00000353479; ENSP00000340937; ENSG00000065618. [Q9UMD9-1]
Ensembl; ENST00000369733; ENSP00000358748; ENSG00000065618. [Q9UMD9-2]
GeneID; 1308; -.
KEGG; hsa:1308; -.
UCSC; uc001kxr.4; human. [Q9UMD9-1]
CTD; 1308; -.
DisGeNET; 1308; -.
EuPathDB; HostDB:ENSG00000065618.16; -.
GeneCards; COL17A1; -.
GeneReviews; COL17A1; -.
H-InvDB; HIX0035327; -.
HGNC; HGNC:2194; COL17A1.
HPA; HPA043673; -.
HPA; HPA052963; -.
MalaCards; COL17A1; -.
MIM; 113811; gene.
MIM; 122400; phenotype.
MIM; 226650; phenotype.
neXtProt; NX_Q9UMD9; -.
OpenTargets; ENSG00000065618; -.
Orphanet; 79402; Generalized junctional epidermolysis bullosa, non-Herlitz type.
Orphanet; 79406; Late-onset junctional epidermolysis bullosa.
Orphanet; 251393; Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKB; PA26710; -.
eggNOG; KOG3544; Eukaryota.
eggNOG; ENOG41103C3; LUCA.
GeneTree; ENSGT00820000126981; -.
HOGENOM; HOG000111885; -.
HOVERGEN; HBG051065; -.
InParanoid; Q9UMD9; -.
KO; K07603; -.
OMA; KDCKFLI; -.
OrthoDB; EOG091G025Z; -.
PhylomeDB; Q9UMD9; -.
TreeFam; TF332289; -.
Reactome; R-HSA-1442490; Collagen degradation.
Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
Reactome; R-HSA-2022090; Assembly of collagen fibrils and other multimeric structures.
Reactome; R-HSA-446107; Type I hemidesmosome assembly.
Reactome; R-HSA-8948216; Collagen chain trimerization.
GeneWiki; Collagen,_type_XVII,_alpha_1; -.
GenomeRNAi; 1308; -.
PMAP-CutDB; Q9UMD9; -.
PRO; PR:Q9UMD9; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000065618; -.
CleanEx; HS_COL17A1; -.
ExpressionAtlas; Q9UMD9; baseline and differential.
Genevisible; Q9UMD9; HS.
GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
GO; GO:0005911; C:cell-cell junction; TAS:ProtInc.
GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0030056; C:hemidesmosome; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0007160; P:cell-matrix adhesion; TAS:ProtInc.
GO; GO:0008544; P:epidermis development; TAS:ProtInc.
GO; GO:0031581; P:hemidesmosome assembly; IDA:UniProtKB.
GO; GO:0050776; P:regulation of immune response; TAS:Reactome.
Gene3D; 2.160.20.50; -; 7.
InterPro; IPR008160; Collagen.
InterPro; IPR016133; Insect_cyst_antifreeze_prot.
Pfam; PF01391; Collagen; 3.
1: Evidence at protein level;
Alternative splicing; Basement membrane; Cell junction; Collagen;
Complete proteome; Direct protein sequencing; Disease mutation;
Disulfide bond; Epidermolysis bullosa; Extracellular matrix;
Glycoprotein; Hydroxylation; Membrane; Phosphoprotein; Polymorphism;
Reference proteome; Repeat; Secreted; Signal-anchor; Transmembrane;
Transmembrane helix.
CHAIN 1 1497 Collagen alpha-1(XVII) chain.
/FTId=PRO_0000059406.
CHAIN 524 1497 120 kDa linear IgA disease antigen.
/FTId=PRO_0000342555.
CHAIN 531 ? 97 kDa linear IgA disease antigen.
/FTId=PRO_0000342556.
TOPO_DOM 1 467 Cytoplasmic. {ECO:0000255}.
TRANSMEM 468 488 Helical; Signal-anchor for type II
membrane protein. {ECO:0000255}.
TOPO_DOM 489 1497 Extracellular. {ECO:0000255}.
REGION 1 566 Nonhelical region (NC16).
REGION 145 230 Necessary for interaction with DST and
for the recruitment of DST to
hemidesmosome.
{ECO:0000269|PubMed:12482924}.
REGION 567 1482 Triple-helical region.
REGION 1483 1497 Nonhelical region (NC1).
MOD_RES 544 544 Phosphoserine; by CK2.
{ECO:0000269|PubMed:17545155}.
CARBOHYD 1421 1421 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:9748270}.
VAR_SEQ 922 966 Missing (in isoform 2). {ECO:0000305}.
/FTId=VSP_024940.
VAR_SEQ 1170 1207 GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT ->
A (in isoform 2). {ECO:0000305}.
/FTId=VSP_024941.
VARIANT 4 4 T -> A (in dbSNP:rs17116471).
/FTId=VAR_048781.
VARIANT 210 210 T -> M (in dbSNP:rs805708).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_017593.
VARIANT 231 231 M -> I (in dbSNP:rs1054113).
{ECO:0000269|PubMed:11912005,
ECO:0000269|PubMed:9012408}.
/FTId=VAR_017594.
VARIANT 238 238 M -> T. {ECO:0000269|PubMed:9012408}.
/FTId=VAR_017595.
VARIANT 265 265 S -> C (in GABEB).
{ECO:0000269|PubMed:11912005}.
/FTId=VAR_017596.
VARIANT 428 428 G -> S (in dbSNP:rs805698).
{ECO:0000269|PubMed:1324962,
ECO:0000269|PubMed:9012408}.
/FTId=VAR_017597.
VARIANT 627 627 G -> V (in GABEB).
{ECO:0000269|PubMed:10652291,
ECO:0000269|PubMed:8669466}.
/FTId=VAR_017598.
VARIANT 633 633 G -> D (in GABEB; dbSNP:rs121912773).
{ECO:0000269|PubMed:10951237}.
/FTId=VAR_017599.
VARIANT 703 703 M -> V (in dbSNP:rs805722).
{ECO:0000269|PubMed:9012408}.
/FTId=VAR_017600.
VARIANT 939 939 T -> I (in ERED; dbSNP:rs797045142).
{ECO:0000269|PubMed:25676728}.
/FTId=VAR_074627.
VARIANT 1303 1303 R -> Q (in GABEB; dbSNP:rs121912771).
{ECO:0000269|PubMed:9199555}.
/FTId=VAR_017601.
VARIANT 1370 1370 D -> G (in dbSNP:rs17116350).
{ECO:0000269|PubMed:9012408}.
/FTId=VAR_017602.
CONFLICT 856 856 Q -> P (in Ref. 5; AAA51839).
{ECO:0000305}.
CONFLICT 905 905 S -> F (in Ref. 1; AAA35605 and 2;
AAB51499). {ECO:0000305}.
SEQUENCE 1497 AA; 150419 MW; E01027005F3AE843 CRC64;
MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ GPPGPPGPQG
PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP PGPPGSISSS GQEIQQYISE
YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI TGETFDYSEL ASHVVSYLRT SGYGVSLFSS
SISSEDILAV LQRDDVRQYL RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS
SGISIGLPGP PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL ISYLTSPDVR
SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS VRRGSSYSSS MSTGGGGAGS
LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA AEGGMYAGNG GLLGADFAGD LDYNELAVRV
SESMQRQGLL QGMAYTVQGP PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP
GQKGEMGTPG PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP


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