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Q9UMD9

- COHA1_HUMAN

UniProt

Q9UMD9 - COHA1_HUMAN

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Protein
Collagen alpha-1(XVII) chain
Gene
COL17A1, BP180, BPAG2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.2 Publications
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.2 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. cell junction assembly Source: Reactome
  2. cell-matrix adhesion Source: ProtInc
  3. collagen catabolic process Source: Reactome
  4. epidermis development Source: ProtInc
  5. extracellular matrix disassembly Source: Reactome
  6. extracellular matrix organization Source: Reactome
  7. hemidesmosome assembly Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_20537. Type I hemidesmosome assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XVII) chain
Alternative name(s):
180 kDa bullous pemphigoid antigen 2
Bullous pemphigoid antigen 2
Cleaved into the following 2 chains:
Alternative name(s):
120 kDa linear IgA dermatosis antigen
Linear IgA disease antigen 1
Short name:
LAD-1
Alternative name(s):
97 kDa linear IgA bullous dermatosis antigen
Short name:
97 kDa LAD antigen
Short name:
97-LAD
Linear IgA bullous disease antigen of 97 kDa
Short name:
LABD97
Gene namesi
Name:COL17A1
Synonyms:BP180, BPAG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:2194. COL17A1.

Subcellular locationi

Cell junctionhemidesmosome. Membrane; Single-pass type II membrane protein
Note: Localized along the plasma membrane of the hemidesmosome.5 Publications
Chain 120 kDa linear IgA disease antigen : Secretedextracellular spaceextracellular matrixbasement membrane
Note: Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.5 Publications
Chain 97 kDa linear IgA disease antigen : Secretedextracellular spaceextracellular matrixbasement membrane
Note: Localized in the lamina lucida beneath the hemidesmosomes.5 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 467467Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei468 – 48821Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini489 – 14971009Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. basement membrane Source: UniProtKB-SubCell
  2. cell-cell junction Source: ProtInc
  3. collagen trimer Source: UniProtKB-KW
  4. endoplasmic reticulum lumen Source: Reactome
  5. extracellular region Source: Reactome
  6. hemidesmosome Source: UniProtKB
  7. integral component of plasma membrane Source: ProtInc
  8. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Cell junction, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti265 – 2651S → C in GABEB. 1 Publication
VAR_017596
Natural varianti627 – 6271G → V in GABEB. 2 Publications
VAR_017598
Natural varianti633 – 6331G → D in GABEB. 1 Publication
VAR_017599
Natural varianti1303 – 13031R → Q in GABEB. 1 Publication
Corresponds to variant rs121912771 [ dbSNP | Ensembl ].
VAR_017601

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MIMi226650. phenotype.
Orphaneti79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79406. Late-onset junctional epidermolysis bullosa.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBiPA26710.

Protein family/group databases

Allergomei8213. Hom s BP180.
8226. Hom s BP180.0101.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14971497Collagen alpha-1(XVII) chain
PRO_0000059406Add
BLAST
Chaini524 – 1497974120 kDa linear IgA disease antigen
PRO_0000342555Add
BLAST
Chaini531 – ?97 kDa linear IgA disease antigenPRO_0000342556

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei544 – 5441Phosphoserine; by CK21 Publication
Glycosylationi1421 – 14211N-linked (GlcNAc...)1 Publication

Post-translational modificationi

The intracellular/endo domain is disulfide-linked.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
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 phosophorylation at Ser-544.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

MaxQBiQ9UMD9.
PaxDbiQ9UMD9.
PRIDEiQ9UMD9.

PTM databases

PhosphoSiteiQ9UMD9.

Miscellaneous databases

PMAP-CutDBQ9UMD9.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

ArrayExpressiQ9UMD9.
BgeeiQ9UMD9.
CleanExiHS_COL17A1.
GenevestigatoriQ9UMD9.

Organism-specific databases

HPAiHPA043673.

Interactioni

Subunit structurei

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.3 Publications

Protein-protein interaction databases

BioGridi107704. 8 interactions.
IntActiQ9UMD9. 1 interaction.
MINTiMINT-119869.
STRINGi9606.ENSP00000340937.

Structurei

3D structure databases

ProteinModelPortaliQ9UMD9.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 566566Nonhelical region (NC16)
Add
BLAST
Regioni145 – 23086Necessary for interaction with DST and for the recruitment of DST to hemidesmosome
Add
BLAST
Regioni567 – 1482916Triple-helical region
Add
BLAST
Regioni1483 – 149715Nonhelical region (NC1)
Add
BLAST

Keywords - Domaini

Collagen, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG309396.
HOGENOMiHOG000111885.
HOVERGENiHBG051065.
InParanoidiQ9UMD9.
KOiK07603.
OMAiLLHKDCK.
OrthoDBiEOG76QFJV.
PhylomeDBiQ9UMD9.
TreeFamiTF332289.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UMD9-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS     50
RLEKQSLTHG SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER 100
KTHVTRHAYE GSSSGNSSPE YPRKEFASSS TRGRSQTRES EIRVRLQSAS 150
PSTRWTELDD VKRLLKGSRS ASVSPTRNSS NTLPIPKKGT VETKIVTASS 200
QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT QSSSLLNTNA 250
YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT 300
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD 350
NTPAKKEMEL LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS 400
GLKAEANGDL KTVSTKGKTT TADIHSYGSS GGGGSGGGGG VGGAGGGPWG 450
PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG LLFGLIALAE EVRKLKARVD 500
ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL HSDSQEELWM 550
FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG 600
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG 650
EPGPHGPPGV PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK 700
GPMGPPGPKG DQGEKGPRGL TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH 750
QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL TGPQGPQGLP GTPGRPGIKG 800
EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP AGPAGLPGHQ 850
EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS 900
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ 950
GPPGPPGPQG PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP 1000
PGPPGSISSS GQEIQQYISE YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI 1050
TGETFDYSEL ASHVVSYLRT SGYGVSLFSS SISSEDILAV LQRDDVRQYL 1100
RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS SGISIGLPGP 1150
PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED 1200
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL 1250
ISYLTSPDVR SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS 1300
VRRGSSYSSS MSTGGGGAGS LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA 1350
AEGGMYAGNG GLLGADFAGD LDYNELAVRV SESMQRQGLL QGMAYTVQGP 1400
PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP GQKGEMGTPG 1450
PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP 1497
Length:1,497
Mass (Da):150,419
Last modified:May 1, 2007 - v3
Checksum:iE01027005F3AE843
GO
Isoform 2 (identifier: Q9UMD9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-966: Missing.
     1170-1207: GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT → A

Note: Gene prediction based on EST data.

Show »
Length:1,415
Mass (Da):142,344
Checksum:i51434477730EC017
GO

Sequence cautioni

The sequence AAH04478.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence AAA35605.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → A.
Corresponds to variant rs17116471 [ dbSNP | Ensembl ].
VAR_048781
Natural varianti210 – 2101T → M.1 Publication
Corresponds to variant rs805708 [ dbSNP | Ensembl ].
VAR_017593
Natural varianti231 – 2311M → I.2 Publications
Corresponds to variant rs1054113 [ dbSNP | Ensembl ].
VAR_017594
Natural varianti238 – 2381M → T.1 Publication
VAR_017595
Natural varianti265 – 2651S → C in GABEB. 1 Publication
VAR_017596
Natural varianti428 – 4281G → S.2 Publications
Corresponds to variant rs805698 [ dbSNP | Ensembl ].
VAR_017597
Natural varianti627 – 6271G → V in GABEB. 2 Publications
VAR_017598
Natural varianti633 – 6331G → D in GABEB. 1 Publication
VAR_017599
Natural varianti703 – 7031M → V.1 Publication
Corresponds to variant rs805722 [ dbSNP | Ensembl ].
VAR_017600
Natural varianti1303 – 13031R → Q in GABEB. 1 Publication
Corresponds to variant rs121912771 [ dbSNP | Ensembl ].
VAR_017601
Natural varianti1370 – 13701D → G.1 Publication
Corresponds to variant rs17116350 [ dbSNP | Ensembl ].
VAR_017602

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei922 – 96645Missing in isoform 2.
VSP_024940Add
BLAST
Alternative sequencei1170 – 120738GSEFR…SYLHT → A in isoform 2.
VSP_024941Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti856 – 8561Q → P in AAA51839. 1 Publication
Sequence conflicti905 – 9051S → F in AAA35605. 1 Publication
Sequence conflicti905 – 9051S → F in AAB51499. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M91669 mRNA. Translation: AAA35605.1. Different initiation.
U76604
, U76565, U76566, U76567, U76568, U76569, U76570, U76571, U76572, U76573, U76574, U76575, U76576, U76577, U76578, U76579, U76580, U76581, U76582, U76583, U76584, U76585, U76586, U76587, U76588, U76589, U76590, U76591, U76592, U76593, U76594, U76595, U76596, U76597, U76598, U76599, U76600, U76601, U76602, U76603 Genomic DNA. Translation: AAB51499.1.
AL138761 Genomic DNA. Translation: CAC00589.1.
AL138761 Genomic DNA. Translation: CAI12398.1.
BC004478 mRNA. Translation: AAH04478.1. Sequence problems.
M63730 mRNA. Translation: AAA51839.1.
CCDSiCCDS7554.1. [Q9UMD9-1]
PIRiI56325. A61262.
RefSeqiNP_000485.3. NM_000494.3. [Q9UMD9-1]
UniGeneiHs.117938.
Hs.732773.

Genome annotation databases

EnsembliENST00000353479; ENSP00000340937; ENSG00000065618. [Q9UMD9-1]
ENST00000369733; ENSP00000358748; ENSG00000065618. [Q9UMD9-2]
GeneIDi1308.
KEGGihsa:1308.
UCSCiuc001kxr.3. human. [Q9UMD9-1]

Polymorphism databases

DMDMi146345399.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M91669 mRNA. Translation: AAA35605.1 . Different initiation.
U76604
, U76565 , U76566 , U76567 , U76568 , U76569 , U76570 , U76571 , U76572 , U76573 , U76574 , U76575 , U76576 , U76577 , U76578 , U76579 , U76580 , U76581 , U76582 , U76583 , U76584 , U76585 , U76586 , U76587 , U76588 , U76589 , U76590 , U76591 , U76592 , U76593 , U76594 , U76595 , U76596 , U76597 , U76598 , U76599 , U76600 , U76601 , U76602 , U76603 Genomic DNA. Translation: AAB51499.1 .
AL138761 Genomic DNA. Translation: CAC00589.1 .
AL138761 Genomic DNA. Translation: CAI12398.1 .
BC004478 mRNA. Translation: AAH04478.1 . Sequence problems.
M63730 mRNA. Translation: AAA51839.1 .
CCDSi CCDS7554.1. [Q9UMD9-1 ]
PIRi I56325. A61262.
RefSeqi NP_000485.3. NM_000494.3. [Q9UMD9-1 ]
UniGenei Hs.117938.
Hs.732773.

3D structure databases

ProteinModelPortali Q9UMD9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107704. 8 interactions.
IntActi Q9UMD9. 1 interaction.
MINTi MINT-119869.
STRINGi 9606.ENSP00000340937.

Protein family/group databases

Allergomei 8213. Hom s BP180.
8226. Hom s BP180.0101.

PTM databases

PhosphoSitei Q9UMD9.

Polymorphism databases

DMDMi 146345399.

Proteomic databases

MaxQBi Q9UMD9.
PaxDbi Q9UMD9.
PRIDEi Q9UMD9.

Protocols and materials databases

DNASUi 1308.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353479 ; ENSP00000340937 ; ENSG00000065618 . [Q9UMD9-1 ]
ENST00000369733 ; ENSP00000358748 ; ENSG00000065618 . [Q9UMD9-2 ]
GeneIDi 1308.
KEGGi hsa:1308.
UCSCi uc001kxr.3. human. [Q9UMD9-1 ]

Organism-specific databases

CTDi 1308.
GeneCardsi GC10M105781.
GeneReviewsi COL17A1.
H-InvDB HIX0035327.
HGNCi HGNC:2194. COL17A1.
HPAi HPA043673.
MIMi 113811. gene.
226650. phenotype.
neXtProti NX_Q9UMD9.
Orphaneti 79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79406. Late-onset junctional epidermolysis bullosa.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBi PA26710.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309396.
HOGENOMi HOG000111885.
HOVERGENi HBG051065.
InParanoidi Q9UMD9.
KOi K07603.
OMAi LLHKDCK.
OrthoDBi EOG76QFJV.
PhylomeDBi Q9UMD9.
TreeFami TF332289.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.
REACT_20537. Type I hemidesmosome assembly.

Miscellaneous databases

GeneWikii Collagen,_type_XVII,_alpha_1.
GenomeRNAii 1308.
NextBioi 5353.
PMAP-CutDB Q9UMD9.
PROi Q9UMD9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UMD9.
Bgeei Q9UMD9.
CleanExi HS_COL17A1.
Genevestigatori Q9UMD9.

Family and domain databases

InterProi IPR008160. Collagen.
[Graphical view ]
Pfami PF01391. Collagen. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, VARIANT SER-428.
    Tissue: Foreskin.
  2. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS ILE-231; THR-238; SER-428; VAL-703 AND GLY-1370.
  3. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-390, VARIANT MET-210.
    Tissue: Pancreas.
  5. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 508-856, TISSUE SPECIFICITY.
  6. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 524-535.
  7. "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) [PubMed] [Europe PMC] [Abstract]
  8. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, FUNCTION, TISSUE SPECIFICITY.
  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. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  11. "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)
    Cited for: SUBCELLULAR LOCATION.
  12. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, PROTEOLYTIC PROCESSING, GLYCOSYLATION AT ASN-1421, DOMAINS.
  13. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DSP.
  14. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: SHEDDING.
  15. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH DSP; DST; ITGB4 AND PLEC, SUBCELLULAR LOCATION.
  16. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-544.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB VAL-627.
  19. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB GLN-1303.
  20. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB VAL-627.
  21. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB ASP-633.
  22. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB CYS-265, VARIANT ILE-231.

Entry informationi

Entry nameiCOHA1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMD9
Secondary accession number(s): Q02802
, Q5JV36, Q99018, Q9NQK9, Q9UC14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: May 1, 2007
Last modified: September 3, 2014
This is version 132 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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