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Protein

von Willebrand factor D and EGF domain-containing protein

Gene

VWDE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor D and EGF domain-containing protein
Gene namesi
Name:VWDE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000146530.11
HGNCiHGNC:21897 VWDE
neXtProtiNX_Q8N2E2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi221806
OpenTargetsiENSG00000146530

Polymorphism and mutation databases

BioMutaiVWDE
DMDMi327478608

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000032944121 – 1590von Willebrand factor D and EGF domain-containing proteinAdd BLAST1570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi367N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi703N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi968N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1181 ↔ 1189By similarity
Disulfide bondi1183 ↔ 1204By similarity
Disulfide bondi1206 ↔ 1215By similarity
Disulfide bondi1298 ↔ 1308By similarity
Disulfide bondi1302 ↔ 1314By similarity
Disulfide bondi1316 ↔ 1325By similarity
Disulfide bondi1362 ↔ 1372By similarity
Disulfide bondi1366 ↔ 1378By similarity
Disulfide bondi1380 ↔ 1389By similarity
Disulfide bondi1426 ↔ 1436By similarity
Disulfide bondi1430 ↔ 1442By similarity
Disulfide bondi1444 ↔ 1453By similarity
Disulfide bondi1458 ↔ 1468By similarity
Disulfide bondi1462 ↔ 1474By similarity
Disulfide bondi1522 ↔ 1532By similarity
Disulfide bondi1526 ↔ 1538By similarity
Disulfide bondi1540 ↔ 1549By similarity
Disulfide bondi1554 ↔ 1564By similarity
Disulfide bondi1558 ↔ 1570By similarity
Disulfide bondi1572 ↔ 1581By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ8N2E2
MaxQBiQ8N2E2
PaxDbiQ8N2E2
PeptideAtlasiQ8N2E2
PRIDEiQ8N2E2

PTM databases

iPTMnetiQ8N2E2
PhosphoSitePlusiQ8N2E2

Expressioni

Gene expression databases

BgeeiENSG00000146530
CleanExiHS_VWDE
ExpressionAtlasiQ8N2E2 baseline and differential
GenevisibleiQ8N2E2 HS

Organism-specific databases

HPAiHPA026619
HPA036044

Interactioni

Protein-protein interaction databases

BioGridi128755, 19 interactors

Structurei

3D structure databases

ProteinModelPortaliQ8N2E2
SMRiQ8N2E2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini424 – 641VWFDPROSITE-ProRule annotationAdd BLAST218
Domaini1177 – 1216EGF-like 1PROSITE-ProRule annotationAdd BLAST40
Domaini1294 – 1326EGF-like 2PROSITE-ProRule annotationAdd BLAST33
Domaini1358 – 1390EGF-like 3PROSITE-ProRule annotationAdd BLAST33
Domaini1422 – 1454EGF-like 4PROSITE-ProRule annotationAdd BLAST33
Domaini1455 – 1486EGF-like 5PROSITE-ProRule annotationAdd BLAST32
Domaini1518 – 1550EGF-like 6PROSITE-ProRule annotationAdd BLAST33
Domaini1551 – 1582EGF-like 7PROSITE-ProRule annotationAdd BLAST32

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR6Q Eukaryota
ENOG410Z37Q LUCA
GeneTreeiENSGT00760000119131
HOGENOMiHOG000169576
InParanoidiQ8N2E2
OMAiYYTAVTD
OrthoDBiEOG091G03Z4
PhylomeDBiQ8N2E2
TreeFamiTF351702

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR013783 Ig-like_fold
IPR001846 VWF_type-D
PfamiView protein in Pfam
PF00094 VWD, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 12 hits
SM00216 VWD, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 9 hits
PS01186 EGF_2, 6 hits
PS50026 EGF_3, 7 hits
PS51233 VWFD, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N2E2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPGGACVLVI ALMFLAWGEA QECSPGGHQF LRSPYRSVRF DSWHLQQSAV
60 70 80 90 100
QDLICDHSLS PGWYRFLILD RPAEMPTKCV EMNHCGTQAP IWLSLRDSET
110 120 130 140 150
LPSPGEIKQL TACATWQFLF STTKDCCLFQ IPVSVRNCGN FSVYLLQPTQ
160 170 180 190 200
GCMGYCAEAI SDARLHPCGS DETETGGDCV RQLAASLPPP PAGRPEVLVE
210 220 230 240 250
LIESRLFCRC SFDVPATKNS VGFHIAWSRL SSQEVKEELT QETTVQAFSL
260 270 280 290 300
LELDGINLRL GDRIFCSASV FFLENPHVQS VAIESQEFFA GFKLQPELST
310 320 330 340 350
ISEDGKEYYL RIESTVPIIC SEFSELDQEC KISLKLKTIG QGREHLGLNL
360 370 380 390 400
ALSSCHVDLL QTSSCANGTC SHTFVYYTAV TDFSRDGDRV SNIVVQPIVN
410 420 430 440 450
EDFLWNNYIP DSIQIKVKDV PTAYCYTFTD PHIITFDGRV YDNFKTGTFV
460 470 480 490 500
LYKSMSRDFE VHVRQWDCRS LHYPVSCNCG FVAQEGGDIV TFDMCNGQLR
510 520 530 540 550
ESQPYLFIKS QDVTRNIKIS ESYLGRKVTI WFSSGAFIRA DLGEWGMSLT
560 570 580 590 600
IRAPSVDYRN TLGLCGTFDE NPENDFHDKN GMQIDQNFNN YVAFINEWRI
610 620 630 640 650
LPGKSMSDTL PVSMTSPGKP SYCSCSLDTA AYPSSEDLDS VSRSEIALGC
660 670 680 690 700
KDLNHVSLSS LIPELDVTSE YINSDTLVRE INKHTSPEEY NLNLFLQEKK
710 720 730 740 750
HINLTKLGLN VQKHPGNEKE DSLQYLANKK YTQGRGSHSQ EMRYNRQNRW
760 770 780 790 800
KRQNFHEFPP LFAFPSLSQT DLEELTYFFP EDHAEDVQQE FFPSWPTPSG
810 820 830 840 850
LTEYSTLTLC QETLANSSIG RLCLAFLGKR LDSVIEMCVK DVLLKDDLSW
860 870 880 890 900
AEAGVALLEN ECEKRIVEEG KYNTEEYGTS IEDILSVLKC PNLCSGNGQC
910 920 930 940 950
MEWGCACSPS FSSYDCSDSY DKAPEITELG NAGFCDVQKY NCMMVRVFGK
960 970 980 990 1000
GFKELPSIKC EVTKLQYNSS EWMPGEPIYT QTVFHNSRAV DCQLPTDVQQ
1010 1020 1030 1040 1050
FDTMDLVGGK PTGKWQLKVS NDGYKFSNPK ITVIYDGACQ VCGLYKNDSC
1060 1070 1080 1090 1100
TIKENVCIID GLCYVEGDKN PTSPCLICRP KISRFTWSFL ENNQPPVIQA
1110 1120 1130 1140 1150
LQDKLQTFYG ENFEYQFVAF DPEGSDIHFT LDSGPEGASV SSAGLFMWKT
1160 1170 1180 1190 1200
DLLTTQQITV RLNDDCDAET RVTIEVTVKS CDCLNGGSCV SDRNFSPGSG
1210 1220 1230 1240 1250
VYLCVCLPGF HGSLCEVDIS GCQSNPCGLG SYISGFHSYS CDCPPELKVE
1260 1270 1280 1290 1300
TQFVNQFTTQ TVVLTRSDKS VNKEEDDKNA QGRKRHVKPT SGNAFTICKY
1310 1320 1330 1340 1350
PCGKSRECVA PNICKCKPGY IGSNCQTALC DPDCKNHGKC IKPNICQCLP
1360 1370 1380 1390 1400
GHGGATCDEE HCNPPCQHGG TCLAGNLCTC PYGFVGPRCE TMVCNRHCEN
1410 1420 1430 1440 1450
GGQCLTPDIC QCKPGWYGPT CSTALCDPVC LNGGSCNKPN TCLCPNGFFG
1460 1470 1480 1490 1500
EHCQNAFCHP PCKNGGHCMR NNVCVCREGY TGRRFQKSIC DPTCMNGGKC
1510 1520 1530 1540 1550
VGPSTCSCPS GWSGKRCNTP ICLQKCKNGG ECIAPSICHC PSSWEGVRCQ
1560 1570 1580 1590
IPICNPKCLY GGRCIFPNVC SCRTEYSGVK CEKKIQIRRH
Length:1,590
Mass (Da):176,780
Last modified:April 5, 2011 - v4
Checksum:i58BAB222EE4D3F04
GO
Isoform 2 (identifier: Q8N2E2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-546: Missing.

Note: No experimental confirmation available.
Show »
Length:1,044
Mass (Da):115,545
Checksum:i706614BB6759EA78
GO

Sequence cautioni

The sequence AAI44320 differs from that shown. Reason: Frameshift at position 1487.Curated
The sequence BAB55237 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11671 differs from that shown. Intron retention.Curated
The sequence EAW93644 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1078C → F in AAI44320 (PubMed:15489334).Curated1
Sequence conflicti1106Q → L in BAB55237 (PubMed:14702039).Curated1
Sequence conflicti1371T → I in BAB55237 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071061607S → F1 PublicationCorresponds to variant dbSNP:rs963323Ensembl.1
Natural variantiVAR_047871964K → N1 PublicationCorresponds to variant dbSNP:rs6460939Ensembl.1
Natural variantiVAR_0478721032T → M1 PublicationCorresponds to variant dbSNP:rs2053380Ensembl.1
Natural variantiVAR_0478731256Q → K1 PublicationCorresponds to variant dbSNP:rs6967385Ensembl.1
Natural variantiVAR_0478741485F → C1 PublicationCorresponds to variant dbSNP:rs2192828Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554651 – 546Missing in isoform 2. 1 PublicationAdd BLAST546

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC007321 Genomic DNA No translation available.
AC013470 Genomic DNA No translation available.
CH471073 Genomic DNA Translation: EAW93644.1 Sequence problems.
BC144319 mRNA Translation: AAI44320.1 Frameshift.
AK075525 mRNA Translation: BAC11671.1 Sequence problems.
AK027618 mRNA Translation: BAB55237.1 Different initiation.
CCDSiCCDS47544.1 [Q8N2E2-1]
RefSeqiNP_001129396.1, NM_001135924.2 [Q8N2E2-1]
XP_005249698.1, XM_005249641.1 [Q8N2E2-3]
UniGeneiHs.669526

Genome annotation databases

EnsembliENST00000275358; ENSP00000275358; ENSG00000146530 [Q8N2E2-1]
GeneIDi221806
KEGGihsa:221806
UCSCiuc003ssj.3 human [Q8N2E2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVWDE_HUMAN
AccessioniPrimary (citable) accession number: Q8N2E2
Secondary accession number(s): B7ZM77, Q96SQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 5, 2011
Last modified: May 23, 2018
This is version 108 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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