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Entry version 114 (13 Feb 2019)
Sequence version 4 (05 Apr 2011)
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Protein

von Willebrand factor D and EGF domain-containing protein

Gene

VWDE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • signaling receptor binding Source: GO_Central

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
von Willebrand factor D and EGF domain-containing protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VWDE
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000146530.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21897 VWDE

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N2E2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
221806

Open Targets

More...
OpenTargetsi
ENSG00000146530

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VWDE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
327478608

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000032944121 – 1590von Willebrand factor D and EGF domain-containing proteinAdd BLAST1570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi367N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi703N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi968N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N2E2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N2E2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N2E2

PeptideAtlas

More...
PeptideAtlasi
Q8N2E2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N2E2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71685

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N2E2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N2E2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000146530 Expressed in 97 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N2E2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N2E2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026619
HPA036044

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128755, 19 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8N2E2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N2E2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR6Q Eukaryota
ENOG410Z37Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160835

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000169576

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N2E2

Identification of Orthologs from Complete Genome Data

More...
OMAi
VEPIVHE

Database of Orthologous Groups

More...
OrthoDBi
576103at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N2E2

TreeFam database of animal gene trees

More...
TreeFami
TF351702

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR013783 Ig-like_fold
IPR001846 VWF_type-D

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00094 VWD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 12 hits
SM00216 VWD, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 9 hits
PS01186 EGF_2, 6 hits
PS50026 EGF_3, 7 hits
PS51233 VWFD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQJ9J3KQJ9_HUMAN
von Willebrand factor D and EGF dom...
VWDE
1,302Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEP3A0A2R8YEP3_HUMAN
von Willebrand factor D and EGF dom...
VWDE
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WXZ2A0A087WXZ2_HUMAN
von Willebrand factor D and EGF dom...
VWDE
944Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IT21A0A3B3IT21_HUMAN
von Willebrand factor D and EGF dom...
VWDE
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG96E5RG96_HUMAN
von Willebrand factor D and EGF dom...
VWDE
352Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DH13A0A0C4DH13_HUMAN
von Willebrand factor D and EGF dom...
VWDE
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0554651 – 546Missing in isoform 2. 1 PublicationAdd BLAST546

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS47544.1 [Q8N2E2-1]

NCBI Reference Sequences

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RefSeqi
NP_001129396.1, NM_001135924.2 [Q8N2E2-1]
XP_005249698.1, XM_005249641.1 [Q8N2E2-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.669526

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000275358; ENSP00000275358; ENSG00000146530 [Q8N2E2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
221806

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:221806

UCSC genome browser

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UCSCi
uc003ssj.3 human [Q8N2E2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ8N2E2
SMRiQ8N2E2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128755, 19 interactors

PTM databases

iPTMnetiQ8N2E2
PhosphoSitePlusiQ8N2E2

Polymorphism and mutation databases

BioMutaiVWDE
DMDMi327478608

Proteomic databases

EPDiQ8N2E2
MaxQBiQ8N2E2
PaxDbiQ8N2E2
PeptideAtlasiQ8N2E2
PRIDEiQ8N2E2
ProteomicsDBi71685

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
221806
DisGeNETi221806
EuPathDBiHostDB:ENSG00000146530.11

GeneCards: human genes, protein and diseases

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GeneCardsi
VWDE

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0006489
HGNCiHGNC:21897 VWDE
HPAiHPA026619
HPA036044
neXtProtiNX_Q8N2E2
OpenTargetsiENSG00000146530

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR6Q Eukaryota
ENOG410Z37Q LUCA
GeneTreeiENSGT00940000160835
HOGENOMiHOG000169576
InParanoidiQ8N2E2
OMAiVEPIVHE
OrthoDBi576103at2759
PhylomeDBiQ8N2E2
TreeFamiTF351702

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
VWDE human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
221806

Protein Ontology

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PROi
PR:Q8N2E2

Gene expression databases

BgeeiENSG00000146530 Expressed in 97 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ8N2E2 baseline and differential
GenevisibleiQ8N2E2 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiVWDE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N2E2
Secondary accession number(s): B7ZM77, Q96SQ3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 5, 2011
Last modified: February 13, 2019
This is version 114 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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