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Q9UMD9

- COHA1_HUMAN

UniProt

Q9UMD9 - COHA1_HUMAN

Protein

Collagen alpha-1(XVII) chain

Gene

COL17A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 3 (01 May 2007)
      Previous versions | rss
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    Functioni

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

    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

    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.
    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.
    Chain 97 kDa linear IgA disease antigen : Secretedextracellular spaceextracellular matrixbasement membrane
    Note: Localized in the lamina lucida beneath the hemidesmosomes.

    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

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) chainPRO_0000059406Add
    BLAST
    Chaini524 – 1497974120 kDa linear IgA disease antigenPRO_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-544.1 Publication

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 467467CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini489 – 14971009ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei468 – 48821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    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 hemidesmosomeAdd
    BLAST
    Regioni567 – 1482916Triple-helical regionAdd
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti856 – 8561Q → P in AAA51839. (PubMed:1748679)Curated
    Sequence conflicti905 – 9051S → F in AAA35605. (PubMed:1324962)Curated
    Sequence conflicti905 – 9051S → F in AAB51499. (PubMed:9012408)Curated

    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. CuratedVSP_024940Add
    BLAST
    Alternative sequencei1170 – 120738GSEFR…SYLHT → A in isoform 2. CuratedVSP_024941Add
    BLAST

    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

    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: October 1, 2014
    This is version 133 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