VWDE_HUMAN
ID VWDE_HUMAN Reviewed; 1590 AA.
AC Q8N2E2; B7ZM77; Q96SQ3;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 4.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=von Willebrand factor D and EGF domain-containing protein;
DE Flags: Precursor;
GN Name=VWDE;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS PHE-607;
RP ASN-964 AND MET-1032.
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-342 (ISOFORM 1).
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 639-1590 (ISOFORM 1), AND
RP VARIANTS LYS-1256 AND CYS-1485.
RC TISSUE=Teratocarcinoma;
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).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N2E2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N2E2-3; Sequence=VSP_055465;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI44320.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB55237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC11671.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=EAW93644.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC007321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC013470; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471073; EAW93644.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC144319; AAI44320.1; ALT_FRAME; mRNA.
DR EMBL; AK075525; BAC11671.1; ALT_SEQ; mRNA.
DR EMBL; AK027618; BAB55237.1; ALT_INIT; mRNA.
DR CCDS; CCDS47544.1; -. [Q8N2E2-1]
DR RefSeq; NP_001129396.1; NM_001135924.2. [Q8N2E2-1]
DR RefSeq; XP_005249698.1; XM_005249641.1. [Q8N2E2-3]
DR AlphaFoldDB; Q8N2E2; -.
DR SMR; Q8N2E2; -.
DR BioGRID; 128755; 138.
DR IntAct; Q8N2E2; 7.
DR STRING; 9606.ENSP00000275358; -.
DR GlyGen; Q8N2E2; 3 sites.
DR iPTMnet; Q8N2E2; -.
DR PhosphoSitePlus; Q8N2E2; -.
DR BioMuta; VWDE; -.
DR DMDM; 327478608; -.
DR EPD; Q8N2E2; -.
DR MassIVE; Q8N2E2; -.
DR MaxQB; Q8N2E2; -.
DR PaxDb; Q8N2E2; -.
DR PeptideAtlas; Q8N2E2; -.
DR PRIDE; Q8N2E2; -.
DR ProteomicsDB; 71685; -. [Q8N2E2-1]
DR Antibodypedia; 66337; 9 antibodies from 5 providers.
DR DNASU; 221806; -.
DR Ensembl; ENST00000275358.8; ENSP00000275358.3; ENSG00000146530.15. [Q8N2E2-1]
DR GeneID; 221806; -.
DR KEGG; hsa:221806; -.
DR MANE-Select; ENST00000275358.8; ENSP00000275358.3; NM_001135924.3; NP_001129396.1.
DR UCSC; uc003ssj.3; human. [Q8N2E2-1]
DR CTD; 221806; -.
DR DisGeNET; 221806; -.
DR GeneCards; VWDE; -.
DR HGNC; HGNC:21897; VWDE.
DR HPA; ENSG00000146530; Tissue enhanced (epididymis, salivary gland, thyroid gland).
DR neXtProt; NX_Q8N2E2; -.
DR OpenTargets; ENSG00000146530; -.
DR VEuPathDB; HostDB:ENSG00000146530; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00940000160835; -.
DR HOGENOM; CLU_002130_0_0_1; -.
DR InParanoid; Q8N2E2; -.
DR OMA; LTICRYP; -.
DR OrthoDB; 576103at2759; -.
DR PhylomeDB; Q8N2E2; -.
DR TreeFam; TF351702; -.
DR PathwayCommons; Q8N2E2; -.
DR SignaLink; Q8N2E2; -.
DR BioGRID-ORCS; 221806; 12 hits in 1074 CRISPR screens.
DR ChiTaRS; VWDE; human.
DR GenomeRNAi; 221806; -.
DR Pharos; Q8N2E2; Tdark.
DR PRO; PR:Q8N2E2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N2E2; protein.
DR Bgee; ENSG00000146530; Expressed in pituitary gland and 107 other tissues.
DR ExpressionAtlas; Q8N2E2; baseline and differential.
DR Genevisible; Q8N2E2; HS.
DR GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IBA:GO_Central.
DR GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR001846; VWF_type-D.
DR Pfam; PF00094; VWD; 1.
DR SMART; SM00181; EGF; 12.
DR SMART; SM00216; VWD; 1.
DR PROSITE; PS00022; EGF_1; 9.
DR PROSITE; PS01186; EGF_2; 6.
DR PROSITE; PS50026; EGF_3; 7.
DR PROSITE; PS51233; VWFD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; EGF-like domain; Glycoprotein;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..1590
FT /note="von Willebrand factor D and EGF domain-containing
FT protein"
FT /id="PRO_0000329441"
FT DOMAIN 423..606
FT /note="VWFD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DOMAIN 1177..1216
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1294..1326
FT /note="EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1358..1390
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1422..1454
FT /note="EGF-like 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1455..1486
FT /note="EGF-like 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1518..1550
FT /note="EGF-like 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1551..1582
FT /note="EGF-like 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT REGION 1268..1288
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1268..1284
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 367
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 703
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 968
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 425..565
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 468..477
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580"
FT DISULFID 1181..1189
FT /evidence="ECO:0000250"
FT DISULFID 1183..1204
FT /evidence="ECO:0000250"
FT DISULFID 1206..1215
FT /evidence="ECO:0000250"
FT DISULFID 1298..1308
FT /evidence="ECO:0000250"
FT DISULFID 1302..1314
FT /evidence="ECO:0000250"
FT DISULFID 1316..1325
FT /evidence="ECO:0000250"
FT DISULFID 1362..1372
FT /evidence="ECO:0000250"
FT DISULFID 1366..1378
FT /evidence="ECO:0000250"
FT DISULFID 1380..1389
FT /evidence="ECO:0000250"
FT DISULFID 1426..1436
FT /evidence="ECO:0000250"
FT DISULFID 1430..1442
FT /evidence="ECO:0000250"
FT DISULFID 1444..1453
FT /evidence="ECO:0000250"
FT DISULFID 1458..1468
FT /evidence="ECO:0000250"
FT DISULFID 1462..1474
FT /evidence="ECO:0000250"
FT DISULFID 1522..1532
FT /evidence="ECO:0000250"
FT DISULFID 1526..1538
FT /evidence="ECO:0000250"
FT DISULFID 1540..1549
FT /evidence="ECO:0000250"
FT DISULFID 1554..1564
FT /evidence="ECO:0000250"
FT DISULFID 1558..1570
FT /evidence="ECO:0000250"
FT DISULFID 1572..1581
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..546
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055465"
FT VARIANT 607
FT /note="S -> F (in dbSNP:rs963323)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_071061"
FT VARIANT 964
FT /note="K -> N (in dbSNP:rs6460939)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047871"
FT VARIANT 1032
FT /note="T -> M (in dbSNP:rs2053380)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047872"
FT VARIANT 1256
FT /note="Q -> K (in dbSNP:rs6967385)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047873"
FT VARIANT 1485
FT /note="F -> C (in dbSNP:rs2192828)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047874"
FT CONFLICT 1078
FT /note="C -> F (in Ref. 3; AAI44320)"
FT /evidence="ECO:0000305"
FT CONFLICT 1106
FT /note="Q -> L (in Ref. 5; BAB55237)"
FT /evidence="ECO:0000305"
FT CONFLICT 1371
FT /note="T -> I (in Ref. 5; BAB55237)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1590 AA; 176780 MW; 58BAB222EE4D3F04 CRC64;
MPGGACVLVI ALMFLAWGEA QECSPGGHQF LRSPYRSVRF DSWHLQQSAV QDLICDHSLS
PGWYRFLILD RPAEMPTKCV EMNHCGTQAP IWLSLRDSET LPSPGEIKQL TACATWQFLF
STTKDCCLFQ IPVSVRNCGN FSVYLLQPTQ GCMGYCAEAI SDARLHPCGS DETETGGDCV
RQLAASLPPP PAGRPEVLVE LIESRLFCRC SFDVPATKNS VGFHIAWSRL SSQEVKEELT
QETTVQAFSL LELDGINLRL GDRIFCSASV FFLENPHVQS VAIESQEFFA GFKLQPELST
ISEDGKEYYL RIESTVPIIC SEFSELDQEC KISLKLKTIG QGREHLGLNL ALSSCHVDLL
QTSSCANGTC SHTFVYYTAV TDFSRDGDRV SNIVVQPIVN EDFLWNNYIP DSIQIKVKDV
PTAYCYTFTD PHIITFDGRV YDNFKTGTFV LYKSMSRDFE VHVRQWDCRS LHYPVSCNCG
FVAQEGGDIV TFDMCNGQLR ESQPYLFIKS QDVTRNIKIS ESYLGRKVTI WFSSGAFIRA
DLGEWGMSLT IRAPSVDYRN TLGLCGTFDE NPENDFHDKN GMQIDQNFNN YVAFINEWRI
LPGKSMSDTL PVSMTSPGKP SYCSCSLDTA AYPSSEDLDS VSRSEIALGC KDLNHVSLSS
LIPELDVTSE YINSDTLVRE INKHTSPEEY NLNLFLQEKK HINLTKLGLN VQKHPGNEKE
DSLQYLANKK YTQGRGSHSQ EMRYNRQNRW KRQNFHEFPP LFAFPSLSQT DLEELTYFFP
EDHAEDVQQE FFPSWPTPSG LTEYSTLTLC QETLANSSIG RLCLAFLGKR LDSVIEMCVK
DVLLKDDLSW AEAGVALLEN ECEKRIVEEG KYNTEEYGTS IEDILSVLKC PNLCSGNGQC
MEWGCACSPS FSSYDCSDSY DKAPEITELG NAGFCDVQKY NCMMVRVFGK GFKELPSIKC
EVTKLQYNSS EWMPGEPIYT QTVFHNSRAV DCQLPTDVQQ FDTMDLVGGK PTGKWQLKVS
NDGYKFSNPK ITVIYDGACQ VCGLYKNDSC TIKENVCIID GLCYVEGDKN PTSPCLICRP
KISRFTWSFL ENNQPPVIQA LQDKLQTFYG ENFEYQFVAF DPEGSDIHFT LDSGPEGASV
SSAGLFMWKT DLLTTQQITV RLNDDCDAET RVTIEVTVKS CDCLNGGSCV SDRNFSPGSG
VYLCVCLPGF HGSLCEVDIS GCQSNPCGLG SYISGFHSYS CDCPPELKVE TQFVNQFTTQ
TVVLTRSDKS VNKEEDDKNA QGRKRHVKPT SGNAFTICKY PCGKSRECVA PNICKCKPGY
IGSNCQTALC DPDCKNHGKC IKPNICQCLP GHGGATCDEE HCNPPCQHGG TCLAGNLCTC
PYGFVGPRCE TMVCNRHCEN GGQCLTPDIC QCKPGWYGPT CSTALCDPVC LNGGSCNKPN
TCLCPNGFFG EHCQNAFCHP PCKNGGHCMR NNVCVCREGY TGRRFQKSIC DPTCMNGGKC
VGPSTCSCPS GWSGKRCNTP ICLQKCKNGG ECIAPSICHC PSSWEGVRCQ IPICNPKCLY
GGRCIFPNVC SCRTEYSGVK CEKKIQIRRH
