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 13-FEB-2019, entry version 87. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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., RA Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., RA Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., RA Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., RA Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., RA Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., RA Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., RA Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., RA Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., RA Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., RA Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., RA Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., RA 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., RA Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., RA Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., RA Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., RA Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., RA Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., RA Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., RA Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., RA Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., RA 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., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA 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 RT project: 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 Note=No experimental confirmation available.; CC Name=3; CC IsoId=A6NCI4-3; Sequence=VSP_032318; CC Note=No experimental confirmation available.; CC Name=4; CC IsoId=A6NCI4-4; Sequence=VSP_032319, VSP_032321; CC Note=No experimental confirmation available.; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.10697; -. DR ProteinModelPortal; A6NCI4; -. DR IntAct; A6NCI4; 1. DR STRING; 9606.ENSP00000374049; -. DR iPTMnet; A6NCI4; -. DR PhosphoSitePlus; A6NCI4; -. DR BioMuta; VWA3A; -. DR jPOST; A6NCI4; -. DR PaxDb; A6NCI4; -. DR PRIDE; A6NCI4; -. DR ProteomicsDB; 833; -. DR ProteomicsDB; 834; -. [A6NCI4-2] DR ProteomicsDB; 835; -. [A6NCI4-3] DR ProteomicsDB; 836; -. [A6NCI4-4] DR Ensembl; ENST00000389398; ENSP00000374049; ENSG00000175267. [A6NCI4-1] DR Ensembl; ENST00000563755; ENSP00000456513; ENSG00000175267. [A6NCI4-4] DR GeneID; 146177; -. DR KEGG; hsa:146177; -. DR UCSC; uc010bxe.2; human. [A6NCI4-1] DR CTD; 146177; -. DR DisGeNET; 146177; -. DR EuPathDB; HostDB:ENSG00000175267.14; -. DR GeneCards; VWA3A; -. DR HGNC; HGNC:27088; VWA3A. DR HPA; HPA041696; -. DR HPA; HPA042044; -. DR neXtProt; NX_A6NCI4; -. DR OpenTargets; ENSG00000175267; -. DR PharmGKB; PA162408933; -. DR eggNOG; ENOG410IGU6; Eukaryota. DR eggNOG; ENOG410XS5K; LUCA. DR GeneTree; ENSGT00940000159290; -. DR HOVERGEN; HBG108660; -. DR InParanoid; A6NCI4; -. DR OMA; CSSQEWV; -. DR OrthoDB; 580729at2759; -. DR PhylomeDB; A6NCI4; -. DR TreeFam; TF328978; -. DR ChiTaRS; VWA3A; human. DR GenomeRNAi; 146177; -. DR PRO; PR:A6NCI4; -. DR Proteomes; UP000005640; Chromosome 16. DR Bgee; ENSG00000175267; Expressed in 142 organ(s), highest expression level in right uterine tube. 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; Complete proteome; Glycoprotein; KW Polymorphism; Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1 24 {ECO:0000255}. FT CHAIN 25 1184 von Willebrand factor A domain-containing FT protein 3A. FT /FTId=PRO_0000324623. FT DOMAIN 511 708 VWFA 1. {ECO:0000255|PROSITE- FT ProRule:PRU00219}. FT DOMAIN 959 1131 VWFA 2. {ECO:0000255|PROSITE- FT ProRule:PRU00219}. FT COILED 333 357 {ECO:0000255}. FT CARBOHYD 709 709 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 1 922 Missing (in isoform 3). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_032318. FT VAR_SEQ 1 898 Missing (in isoform 4). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_032319. FT VAR_SEQ 7 382 Missing (in isoform 2). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_032320. FT VAR_SEQ 899 945 KHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQ FT RLQWLL -> MEVYIRHLEKVLRRYVQRLQWLLSGPVLCSR FT TWYRQSMDRGVMMTAA (in isoform 4). FT {ECO:0000303|Ref.1}. FT /FTId=VSP_032321. FT VARIANT 464 464 T -> I (in dbSNP:rs1369695824). FT /FTId=VAR_059738. FT VARIANT 657 657 T -> I (in dbSNP:rs1105929). FT {ECO:0000269|PubMed:14702039}. FT /FTId=VAR_057020. FT VARIANT 1165 1165 Q -> P (in dbSNP:rs16972517). FT /FTId=VAR_057021. FT CONFLICT 885 885 N -> S (in Ref. 5; AAH38400). FT {ECO:0000305}. FT CONFLICT 1005 1005 F -> L (in Ref. 1; AAQ62968, 2; BAC04176/ FT BAC87526, 4; EAW50598 and 5; AAH38400/ FT AAI09296). {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 //