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Q8N2E2 (VWDE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
von Willebrand factor D and EGF domain-containing protein
Gene names
Name:VWDE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1590 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Secreted Potential.

Sequence similarities

Contains 7 EGF-like domains.

Contains 1 VWFD domain.

Sequence caution

The sequence BAB55237.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC11671.1 differs from that shown. Reason: Intron retention.

The sequence EAW93644.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DomainEGF-like domain
Repeat
Signal
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 15901570von Willebrand factor D and EGF domain-containing protein
PRO_0000329441

Regions

Domain424 – 641218VWFD
Domain1177 – 121640EGF-like 1
Domain1294 – 132633EGF-like 2
Domain1358 – 139033EGF-like 3
Domain1422 – 145433EGF-like 4
Domain1455 – 148632EGF-like 5
Domain1518 – 155033EGF-like 6
Domain1551 – 158232EGF-like 7

Amino acid modifications

Glycosylation3671N-linked (GlcNAc...) Potential
Glycosylation7031N-linked (GlcNAc...) Potential
Glycosylation9681N-linked (GlcNAc...) Potential
Disulfide bond1181 ↔ 1189 By similarity
Disulfide bond1183 ↔ 1204 By similarity
Disulfide bond1206 ↔ 1215 By similarity
Disulfide bond1298 ↔ 1308 By similarity
Disulfide bond1302 ↔ 1314 By similarity
Disulfide bond1316 ↔ 1325 By similarity
Disulfide bond1362 ↔ 1372 By similarity
Disulfide bond1366 ↔ 1378 By similarity
Disulfide bond1380 ↔ 1389 By similarity
Disulfide bond1426 ↔ 1436 By similarity
Disulfide bond1430 ↔ 1442 By similarity
Disulfide bond1444 ↔ 1453 By similarity
Disulfide bond1458 ↔ 1468 By similarity
Disulfide bond1462 ↔ 1474 By similarity
Disulfide bond1522 ↔ 1532 By similarity
Disulfide bond1526 ↔ 1538 By similarity
Disulfide bond1540 ↔ 1549 By similarity
Disulfide bond1554 ↔ 1564 By similarity
Disulfide bond1558 ↔ 1570 By similarity
Disulfide bond1572 ↔ 1581 By similarity

Natural variations

Natural variant9641K → N.
Corresponds to variant rs6460939 [ dbSNP | Ensembl ].
VAR_047871
Natural variant10321T → M.
Corresponds to variant rs2053380 [ dbSNP | Ensembl ].
VAR_047872
Natural variant12561Q → K. Ref.4
Corresponds to variant rs6967385 [ dbSNP | Ensembl ].
VAR_047873
Natural variant14851F → C. Ref.4
Corresponds to variant rs2192828 [ dbSNP | Ensembl ].
VAR_047874

Experimental info

Sequence conflict11061Q → L in BAB55237. Ref.4
Sequence conflict13711T → I in BAB55237. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8N2E2 [UniParc].

Last modified April 5, 2011. Version 4.
Checksum: 58BAB222EE4D3F04

FASTA1,590176,780
        10         20         30         40         50         60 
MPGGACVLVI ALMFLAWGEA QECSPGGHQF LRSPYRSVRF DSWHLQQSAV QDLICDHSLS 

        70         80         90        100        110        120 
PGWYRFLILD RPAEMPTKCV EMNHCGTQAP IWLSLRDSET LPSPGEIKQL TACATWQFLF 

       130        140        150        160        170        180 
STTKDCCLFQ IPVSVRNCGN FSVYLLQPTQ GCMGYCAEAI SDARLHPCGS DETETGGDCV 

       190        200        210        220        230        240 
RQLAASLPPP PAGRPEVLVE LIESRLFCRC SFDVPATKNS VGFHIAWSRL SSQEVKEELT 

       250        260        270        280        290        300 
QETTVQAFSL LELDGINLRL GDRIFCSASV FFLENPHVQS VAIESQEFFA GFKLQPELST 

       310        320        330        340        350        360 
ISEDGKEYYL RIESTVPIIC SEFSELDQEC KISLKLKTIG QGREHLGLNL ALSSCHVDLL 

       370        380        390        400        410        420 
QTSSCANGTC SHTFVYYTAV TDFSRDGDRV SNIVVQPIVN EDFLWNNYIP DSIQIKVKDV 

       430        440        450        460        470        480 
PTAYCYTFTD PHIITFDGRV YDNFKTGTFV LYKSMSRDFE VHVRQWDCRS LHYPVSCNCG 

       490        500        510        520        530        540 
FVAQEGGDIV TFDMCNGQLR ESQPYLFIKS QDVTRNIKIS ESYLGRKVTI WFSSGAFIRA 

       550        560        570        580        590        600 
DLGEWGMSLT IRAPSVDYRN TLGLCGTFDE NPENDFHDKN GMQIDQNFNN YVAFINEWRI 

       610        620        630        640        650        660 
LPGKSMSDTL PVSMTSPGKP SYCSCSLDTA AYPSSEDLDS VSRSEIALGC KDLNHVSLSS 

       670        680        690        700        710        720 
LIPELDVTSE YINSDTLVRE INKHTSPEEY NLNLFLQEKK HINLTKLGLN VQKHPGNEKE 

       730        740        750        760        770        780 
DSLQYLANKK YTQGRGSHSQ EMRYNRQNRW KRQNFHEFPP LFAFPSLSQT DLEELTYFFP 

       790        800        810        820        830        840 
EDHAEDVQQE FFPSWPTPSG LTEYSTLTLC QETLANSSIG RLCLAFLGKR LDSVIEMCVK 

       850        860        870        880        890        900 
DVLLKDDLSW AEAGVALLEN ECEKRIVEEG KYNTEEYGTS IEDILSVLKC PNLCSGNGQC 

       910        920        930        940        950        960 
MEWGCACSPS FSSYDCSDSY DKAPEITELG NAGFCDVQKY NCMMVRVFGK GFKELPSIKC 

       970        980        990       1000       1010       1020 
EVTKLQYNSS EWMPGEPIYT QTVFHNSRAV DCQLPTDVQQ FDTMDLVGGK PTGKWQLKVS 

      1030       1040       1050       1060       1070       1080 
NDGYKFSNPK ITVIYDGACQ VCGLYKNDSC TIKENVCIID GLCYVEGDKN PTSPCLICRP 

      1090       1100       1110       1120       1130       1140 
KISRFTWSFL ENNQPPVIQA LQDKLQTFYG ENFEYQFVAF DPEGSDIHFT LDSGPEGASV 

      1150       1160       1170       1180       1190       1200 
SSAGLFMWKT DLLTTQQITV RLNDDCDAET RVTIEVTVKS CDCLNGGSCV SDRNFSPGSG 

      1210       1220       1230       1240       1250       1260 
VYLCVCLPGF HGSLCEVDIS GCQSNPCGLG SYISGFHSYS CDCPPELKVE TQFVNQFTTQ 

      1270       1280       1290       1300       1310       1320 
TVVLTRSDKS VNKEEDDKNA QGRKRHVKPT SGNAFTICKY PCGKSRECVA PNICKCKPGY 

      1330       1340       1350       1360       1370       1380 
IGSNCQTALC DPDCKNHGKC IKPNICQCLP GHGGATCDEE HCNPPCQHGG TCLAGNLCTC 

      1390       1400       1410       1420       1430       1440 
PYGFVGPRCE TMVCNRHCEN GGQCLTPDIC QCKPGWYGPT CSTALCDPVC LNGGSCNKPN 

      1450       1460       1470       1480       1490       1500 
TCLCPNGFFG EHCQNAFCHP PCKNGGHCMR NNVCVCREGY TGRRFQKSIC DPTCMNGGKC 

      1510       1520       1530       1540       1550       1560 
VGPSTCSCPS GWSGKRCNTP ICLQKCKNGG ECIAPSICHC PSSWEGVRCQ IPICNPKCLY 

      1570       1580       1590 
GGRCIFPNVC SCRTEYSGVK CEKKIQIRRH 

« Hide

References

[1]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-342.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 639-1590, VARIANTS LYS-1256 AND CYS-1485.
Tissue: Teratocarcinoma.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC007321 Genomic DNA. No translation available.
AC013470 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93644.1. Sequence problems.
AK075525 mRNA. Translation: BAC11671.1. Sequence problems.
AK027618 mRNA. Translation: BAB55237.1. Different initiation.
CCDSCCDS47544.1.
RefSeqNP_001129396.1. NM_001135924.1.
UniGeneHs.669526.

3D structure databases

ProteinModelPortalQ8N2E2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128755. 1 interaction.

PTM databases

PhosphoSiteQ8N2E2.

Polymorphism databases

DMDM327478608.

Proteomic databases

MaxQBQ8N2E2.
PaxDbQ8N2E2.
PRIDEQ8N2E2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275358; ENSP00000275358; ENSG00000146530.
ENST00000326715; ENSP00000317143; ENSG00000146530.
GeneID221806.
KEGGhsa:221806.
UCSCuc003ssj.2. human.

Organism-specific databases

CTD221806.
GeneCardsGC07M012338.
H-InvDBHIX0006489.
HGNCHGNC:21897. VWDE.
HPAHPA026619.
HPA036044.
neXtProtNX_Q8N2E2.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287151.
HOGENOMHOG000169576.
InParanoidQ96SQ3.
OMAAICRHPC.
OrthoDBEOG7GXP9M.
PhylomeDBQ8N2E2.
TreeFamTF351702.

Gene expression databases

ArrayExpressQ8N2E2.
BgeeQ8N2E2.
CleanExHS_VWDE.
GenevestigatorQ8N2E2.

Family and domain databases

InterProIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR001846. VWF_type-D.
[Graphical view]
PfamPF12661. hEGF. 3 hits.
PF00094. VWD. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 10 hits.
SM00216. VWD. 1 hit.
[Graphical view]
PROSITEPS00022. EGF_1. 9 hits.
PS01186. EGF_2. 6 hits.
PS50026. EGF_3. 7 hits.
PS51233. VWFD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi221806.
NextBio91453.
PROQ8N2E2.

Entry information

Entry nameVWDE_HUMAN
AccessionPrimary (citable) accession number: Q8N2E2
Secondary accession number(s): Q96SQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 5, 2011
Last modified: July 9, 2014
This is version 79 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM