VWA3A_HUMAN
ID VWA3A_HUMAN Reviewed; 1184 AA.
AC A6NCI4; A4QMU8; A6NNC0; Q6UTX4; Q6ZQZ9; Q8IUY6; Q8N9W1;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 3.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=von Willebrand factor A domain-containing protein 3A;
DE Flags: Precursor;
GN Name=VWA3A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
RA Zhou G., Yu R., Li H., Ke R., Zheng G., Shen C., Zhong G., Lin L., Yang S.;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP ILE-657.
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 392-1184.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=A6NCI4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NCI4-2; Sequence=VSP_032320;
CC Name=3;
CC IsoId=A6NCI4-3; Sequence=VSP_032318;
CC Name=4;
CC IsoId=A6NCI4-4; Sequence=VSP_032319, VSP_032321;
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DR EMBL; AY360464; AAQ62968.1; -; mRNA.
DR EMBL; AK093467; BAC04176.1; -; mRNA.
DR EMBL; AK128606; BAC87526.1; -; mRNA.
DR EMBL; AC009019; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471249; EAW50598.1; -; Genomic_DNA.
DR EMBL; BC038400; AAH38400.1; -; mRNA.
DR EMBL; BC109295; AAI09296.1; -; mRNA.
DR CCDS; CCDS45441.1; -. [A6NCI4-1]
DR RefSeq; NP_775886.3; NM_173615.4. [A6NCI4-1]
DR AlphaFoldDB; A6NCI4; -.
DR SMR; A6NCI4; -.
DR BioGRID; 126967; 2.
DR IntAct; A6NCI4; 1.
DR STRING; 9606.ENSP00000374049; -.
DR GlyGen; A6NCI4; 1 site.
DR iPTMnet; A6NCI4; -.
DR PhosphoSitePlus; A6NCI4; -.
DR BioMuta; VWA3A; -.
DR jPOST; A6NCI4; -.
DR MassIVE; A6NCI4; -.
DR PaxDb; A6NCI4; -.
DR PeptideAtlas; A6NCI4; -.
DR PRIDE; A6NCI4; -.
DR ProteomicsDB; 833; -. [A6NCI4-1]
DR ProteomicsDB; 834; -. [A6NCI4-2]
DR ProteomicsDB; 835; -. [A6NCI4-3]
DR ProteomicsDB; 836; -. [A6NCI4-4]
DR Antibodypedia; 51004; 33 antibodies from 10 providers.
DR DNASU; 146177; -.
DR Ensembl; ENST00000389398.10; ENSP00000374049.5; ENSG00000175267.15. [A6NCI4-1]
DR Ensembl; ENST00000563755.1; ENSP00000456513.1; ENSG00000175267.15. [A6NCI4-4]
DR GeneID; 146177; -.
DR KEGG; hsa:146177; -.
DR MANE-Select; ENST00000389398.10; ENSP00000374049.5; NM_173615.5; NP_775886.3.
DR UCSC; uc010bxe.2; human. [A6NCI4-1]
DR CTD; 146177; -.
DR DisGeNET; 146177; -.
DR GeneCards; VWA3A; -.
DR HGNC; HGNC:27088; VWA3A.
DR HPA; ENSG00000175267; Tissue enhanced (brain, choroid plexus, fallopian tube).
DR neXtProt; NX_A6NCI4; -.
DR OpenTargets; ENSG00000175267; -.
DR PharmGKB; PA162408933; -.
DR VEuPathDB; HostDB:ENSG00000175267; -.
DR eggNOG; ENOG502QTDG; Eukaryota.
DR GeneTree; ENSGT00940000159290; -.
DR HOGENOM; CLU_008839_0_0_1; -.
DR InParanoid; A6NCI4; -.
DR OMA; ISRCMGP; -.
DR OrthoDB; 580729at2759; -.
DR PhylomeDB; A6NCI4; -.
DR TreeFam; TF328978; -.
DR PathwayCommons; A6NCI4; -.
DR SignaLink; A6NCI4; -.
DR BioGRID-ORCS; 146177; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; VWA3A; human.
DR GenomeRNAi; 146177; -.
DR Pharos; A6NCI4; Tdark.
DR PRO; PR:A6NCI4; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; A6NCI4; protein.
DR Bgee; ENSG00000175267; Expressed in right uterine tube and 144 other tissues.
DR ExpressionAtlas; A6NCI4; baseline and differential.
DR Genevisible; A6NCI4; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR Gene3D; 3.40.50.410; -; 3.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF13768; VWA_3; 3.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF53300; SSF53300; 3.
DR PROSITE; PS50234; VWFA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Glycoprotein; Reference proteome;
KW Repeat; Secreted; Signal.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..1184
FT /note="von Willebrand factor A domain-containing protein
FT 3A"
FT /id="PRO_0000324623"
FT DOMAIN 511..708
FT /note="VWFA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT DOMAIN 959..1131
FT /note="VWFA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT REGION 40..62
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 729..780
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 333..357
FT /evidence="ECO:0000255"
FT COMPBIAS 765..779
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 709
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..922
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032318"
FT VAR_SEQ 1..898
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_032319"
FT VAR_SEQ 7..382
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032320"
FT VAR_SEQ 899..945
FT /note="KHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLL -> M
FT EVYIRHLEKVLRRYVQRLQWLLSGPVLCSRTWYRQSMDRGVMMTAA (in isoform
FT 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_032321"
FT VARIANT 464
FT /note="T -> I (in dbSNP:rs1369695824)"
FT /id="VAR_059738"
FT VARIANT 657
FT /note="T -> I (in dbSNP:rs1105929)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_057020"
FT VARIANT 1165
FT /note="Q -> P (in dbSNP:rs16972517)"
FT /id="VAR_057021"
FT CONFLICT 885
FT /note="N -> S (in Ref. 5; AAH38400)"
FT /evidence="ECO:0000305"
FT CONFLICT 1005
FT /note="F -> L (in Ref. 1; AAQ62968, 2; BAC04176/BAC87526,
FT 4; EAW50598 and 5; AAH38400/AAI09296)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1184 AA; 134020 MW; 1CA57332FA8879F0 CRC64;
MKKYRKISIG CFAMATQTSH VFHGQENMFL ENHCIRRNTG RDSKKPLKQK NMNGLGQNSD
NGLLVTHVNQ TQDLLRLQGS ETQSSDWEDS EDWLSAHSLK CQKLTLADLI SQGTEVLEEG
TNVVQKICFS TQIIRHFESK LSDTIEVYQE RIQWLTENSK KAFGLIKGAR VSILIDVSAI
SSGPQKEEFQ KDLMSLIDEQ LSHKEKLFVL SFGTNAGSLW PDPMEVSAST LQELKLWVKT
LQPDGGSNLL QALKKIFTLK GLDSLVAIMR SCPDQPSEIL SDYIQQSTMG RDLIIHFITY
RCDDQMPPAV LKNLAEAVRG YYHCYSPKME HYTSRDMDEL LAEIQKAQSL LSHVQALQHS
SPCEALTCTM EEISTEITNG PLISLLPKPP KHDAPLTIEF PNLDKTSAEW LKVNGLKAKK
LSLYQVLAPN AFSPVEEFVP ILQKTVSSTI HEKAMIQFEW HDGTVKNIHV DPPFLYKYQQ
QLSRAMRMYE RRIEWLSLAS RRIWGTVCEK RVVVLLDISA TNSMYIIHIQ HSLRLLLEEQ
LSNKDCFNLI AFGSTIESWR PEMVPVSHNN LQSAWRWALN LRCRGSRNVL SALRKAVEVD
FKDKDKHQSQ GIYLFTGGIP DQDMPTLSAY MAEACGGCDL QLNVCLFYVG EPKMDTTPPA
RYASHTDTAA AYKEVTRAAG GRFHWFGDTG IYESDDINSI MSEMEKALNY SQKCAFLMAS
LKNHSGKVLG SSALPKEKPK TLQLRSQPKK LCPPRPTVPL GARMSIKDDP DREKSPPLKS
LKWRPLSSRV GISPAAAQPT KEGMMELRRK TKSREAETSL LLFYTEKGND VGSVYKKYPQ
GRGLRRTSSS IDLPRKDTVC SSQEWVAKYG LKKLKLEISR CMGPNCTHQK SGQRSASAKH
CSIFPSVEIH GVVRHIQWTP REMEVYIRHL EKVLRRYVQR LQWLLSGSRR LFGTVLESKV
CILLDTSGSM GPYLQQVKTE LVLLIWEQLR KCCDSFNLLS FAESFQSWQD TLVETTDAAC
HEAMQWVTHL QAQGSTSILQ ALLKAFSFHD LEGLYLLTDG KPDTSCSLVL NEVQKLREKR
DVKVHTISLN CSDRAAVEFL RKLASFTGGR YHCPVGEDTL SKIHSLLTKG FINEKDPTLP
PFEGDDLRIL AQEITKARSF LWQAQSFRSQ LQKKNDAEPK VTLS
