ID   VWA1_DANRE              Reviewed;         503 AA.
AC   E7FF10;
DT   23-FEB-2022, integrated into UniProtKB/Swiss-Prot.
DT   08-MAR-2011, sequence version 1.
DT   03-AUG-2022, entry version 85.
DE   RecName: Full=von Willebrand factor A domain-containing protein 1;
DE   Flags: Precursor;
GN   Name=vwa1 {ECO:0000312|ZFIN:ZDB-GENE-030131-5921};
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
RA   Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA   Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA   Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA   White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA   Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA   Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA   Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA   Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA   Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT   "The zebrafish reference genome sequence and its relationship to the human
RT   genome.";
RL   Nature 496:498-503(2013).
RN   [2]
RP   DISRUPTION PHENOTYPE, AND FUNCTION.
RX   PubMed=33559681; DOI=10.1093/brain/awaa420;
RG   Genomics England Research Consortium;
RA   Pagnamenta A.T., Kaiyrzhanov R., Zou Y., Da'as S.I., Maroofian R.,
RA   Donkervoort S., Dominik N., Lauffer M., Ferla M.P., Orioli A., Giess A.,
RA   Tucci A., Beetz C., Sedghi M., Ansari B., Barresi R., Basiri K.,
RA   Cortese A., Elgar G., Fernandez-Garcia M.A., Yip J., Foley A.R.,
RA   Gutowski N., Jungbluth H., Lassche S., Lavin T., Marcelis C., Marks P.,
RA   Marini-Bettolo C., Medne L., Moslemi A.R., Sarkozy A., Reilly M.M.,
RA   Muntoni F., Millan F., Muraresku C.C., Need A.C., Nemeth A.H.,
RA   Neuhaus S.B., Norwood F., O'Donnell M., O'Driscoll M., Rankin J., Yum S.W.,
RA   Zolkipli-Cunningham Z., Brusius I., Wunderlich G., Karakaya M., Wirth B.,
RA   Fakhro K.A., Tajsharghi H., Boennemann C.G., Taylor J.C., Houlden H.;
RT   "An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary
RT   motor neuropathy.";
RL   Brain 144:584-600(2021).
CC   -!- FUNCTION: Promotes matrix assembly (By similarity). Involved in the
CC       organization of skeletal muscles and in the formation of neuromuscular
CC       junctions (PubMed:33559681). {ECO:0000250|UniProtKB:Q8R2Z5,
CC       ECO:0000269|PubMed:33559681}.
CC   -!- SUBUNIT: Homodimer or homomultimer; disulfide-linked.
CC       {ECO:0000250|UniProtKB:Q8R2Z5}.
CC   -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC       matrix, basement membrane {ECO:0000250|UniProtKB:Q8R2Z5}.
CC   -!- DISRUPTION PHENOTYPE: Mutants primary motor neurons have reduced axonal
CC       branching innervating the muscle fibers and secondary motor neurons
CC       have aberrant axonal structure. Mutants skeletal muscle show also an
CC       abnormal structure with disorganized myofibers and reduced synaptic
CC       formation at the neuromuscular junction. They show a progressive
CC       impairment of locomotor behavior and have smaller jaws and abnormal
CC       cartilage patterning compared to controls.
CC       {ECO:0000269|PubMed:33559681}.
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DR   EMBL; BX255940; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BX649542; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; XP_005174191.1; XM_005174134.3.
DR   RefSeq; XP_696796.2; XM_691704.5.
DR   AlphaFoldDB; E7FF10; -.
DR   SMR; E7FF10; -.
DR   STRING; 7955.ENSDARP00000099327; -.
DR   PaxDb; E7FF10; -.
DR   PeptideAtlas; E7FF10; -.
DR   Ensembl; ENSDART00000110868; ENSDARP00000099327; ENSDARG00000075468.
DR   Ensembl; ENSDART00000190961; ENSDARP00000157119; ENSDARG00000075468.
DR   GeneID; 568379; -.
DR   KEGG; dre:568379; -.
DR   CTD; 64856; -.
DR   ZFIN; ZDB-GENE-030131-5921; vwa1.
DR   eggNOG; KOG3544; Eukaryota.
DR   GeneTree; ENSGT00940000160734; -.
DR   HOGENOM; CLU_042926_0_0_1; -.
DR   InParanoid; E7FF10; -.
DR   OMA; PEGVLNC; -.
DR   OrthoDB; 67372at2759; -.
DR   PhylomeDB; E7FF10; -.
DR   TreeFam; TF316402; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 23.
DR   Bgee; ENSDARG00000075468; Expressed in pharyngeal gill and 20 other tissues.
DR   ExpressionAtlas; E7FF10; baseline.
DR   GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0062023; C:collagen-containing extracellular matrix; IBA:GO_Central.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR   CDD; cd00063; FN3; 2.
DR   Gene3D; 2.60.40.10; -; 2.
DR   Gene3D; 3.40.50.410; -; 1.
DR   InterPro; IPR003961; FN3_dom.
DR   InterPro; IPR036116; FN3_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR030758; Vwa1.
DR   InterPro; IPR002035; VWF_A.
DR   InterPro; IPR036465; vWFA_dom_sf.
DR   PANTHER; PTHR24020:SF51; PTHR24020:SF51; 1.
DR   Pfam; PF00041; fn3; 2.
DR   Pfam; PF00092; VWA; 1.
DR   SMART; SM00060; FN3; 3.
DR   SMART; SM00327; VWA; 1.
DR   SUPFAM; SSF49265; SSF49265; 2.
DR   SUPFAM; SSF53300; SSF53300; 1.
DR   PROSITE; PS50853; FN3; 2.
DR   PROSITE; PS50234; VWFA; 1.
PE   3: Inferred from homology;
KW   Basement membrane; Disulfide bond; Extracellular matrix; Phosphoprotein;
KW   Reference proteome; Repeat; Secreted; Signal.
FT   SIGNAL          1..21
FT                   /evidence="ECO:0000255"
FT   CHAIN           22..503
FT                   /note="von Willebrand factor A domain-containing protein 1"
FT                   /evidence="ECO:0000255"
FT                   /id="PRO_5003217993"
FT   DOMAIN          36..213
FT                   /note="VWFA"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT   DOMAIN          218..324
FT                   /note="Fibronectin type-III 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   DOMAIN          331..423
FT                   /note="Fibronectin type-III 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
SQ   SEQUENCE   503 AA;  54925 MW;  7D4B18B50F65C7A7 CRC64;
     MEVRKALTCV FLTVFLCSGD AQDSVTDSVL NCCEGDVLFL LDSSGSVASY EFSRMVDFLS
     ELLLPFSLGP DHVRVGLLQV GTEPHLEFGF DAYSSQQGLQ AALERTKQLK GDTNTVEALL
     MARAQVLRVG VPGGARPDLP RVLVWLTDGV DPGNVQEPMA RLRDEGVAVL VVSTGHGNYQ
     VLREVVSPPT EEHLFFVDID DISIIGEDLR NSIIEIIRAE RLQVKSVSST SAQLEWRPVL
     SGSGSGYYDI KFGPMRTGQI PGVPGGASTD PGSFQRITRP ADSSSAQLTG LRPDTTYTVT
     LTPKNNQQVL NTLQTSFTTQ TVNPPEPQIQ LLSSLSVSES SSNSVRVSWA PLLPRLIQEY
     QLEYSALPSG PLRVLRVSNT HNSTVITDLQ PDTQYLLTVS AKQTSGKERA MTVKVCTQEV
     LPALSDLQLS SVGDETVQLR WKGSFDGLRG YWVTWERGHS QRSTLYLPPN RLSTTLNHVP
     SRARVCVSPV YRTARGEGLC CTA