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Protein

von Willebrand factor A domain-containing protein 3B

Gene

VWA3B

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

Annotation score:4 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 protein 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 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 A domain-containing protein 3B
Short name:
VWA domain-containing protein 3B
<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:VWA3B
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000168658.18

Human Gene Nomenclature Database

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HGNCi
HGNC:28385 VWA3B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614884 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q502W6

<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

<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

Cytoplasm

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 22 (SCAR22)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia.
See also OMIM:616948
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_075091622K → T in SCAR22. 1 PublicationCorresponds to variant dbSNP:rs876657414EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
200403

MalaCards human disease database

More...
MalaCardsi
VWA3B
MIMi616948 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168658

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162409004

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VWA3B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439299

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003370401 – 1294von Willebrand factor A domain-containing protein 3BAdd BLAST1294

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q502W6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q502W6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q502W6

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

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PaxDbi
Q502W6

PeptideAtlas

More...
PeptideAtlasi
Q502W6

PRoteomics IDEntifications database

More...
PRIDEi
Q502W6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62390
62391 [Q502W6-2]
62392 [Q502W6-3]
62393 [Q502W6-4]
62394 [Q502W6-5]
62395 [Q502W6-6]
62396 [Q502W6-7]
62397 [Q502W6-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q502W6

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

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PhosphoSitePlusi
Q502W6

<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

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Bgeei
ENSG00000168658 Expressed in 112 organ(s), highest expression level in bronchial epithelial cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_VWA3B

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q502W6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q502W6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036700
HPA036701

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128324, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417955

<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

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ProteinModelPortali
Q502W6

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

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SMRi
Q502W6

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>Domaini508 – 684VWFAPROSITE-ProRule annotationAdd BLAST177

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFC0 Eukaryota
ENOG410XQPK LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157237

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108661

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q502W6

Identification of Orthologs from Complete Genome Data

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OMAi
PTSFITP

Database of Orthologous Groups

More...
OrthoDBi
580729at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q502W6

TreeFam database of animal gene trees

More...
TreeFami
TF328978

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032770 DUF4537
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15057 DUF4537, 1 hit
PF13768 VWA_3, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00327 VWA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53300 SSF53300, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50234 VWFA, 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 (8+)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.

This entry describes 8 <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 8 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q502W6-1) [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
MEKSGPSSTI SEQQLQRQEG WINTKTDLAE QSLISSEKWL QLHGLKSNKL
60 70 80 90 100
TLKQILSQIG FPHCEDYVAS LGRPVASRYA DGLFPQLYRA EDGRVYNLTA
110 120 130 140 150
KSELIYQFVE HLTQAVESYK QRMDWLTSKS RQIFGVILEQ CVTIVLDFGG
160 170 180 190 200
ILEGELDLCR EALTMVLQEQ VAHITEFNII RVSQEPVKWQ ENATPVTEQS
210 220 230 240 250
IATAISWVEK LTVELTVSEA GRLDALLEAG RDKTIESIYY FVVGDVPEES
260 270 280 290 300
KELLLQRALE IPCPVYTVSF NARGEGTIAF LKDLSAKTHS RFHAFAERTE
310 320 330 340 350
CVEFPAFSTK DGDNVMTWNS RKLKGKLPPG AGVREDVFLV WQEMEEACST
360 370 380 390 400
LAQIQRLVAE PPKPDVATVD CESETTSVEI ASNPEDTWDS KTWLQKYGLK
410 420 430 440 450
AQKLSLYDVL ADCSFRHADG VVDIKAKPEN ESVQTSAETN KKTVHAKYCS
460 470 480 490 500
RFVHAPWKDG SLVHVNITKE KCKWYSERIH TALARIRRRI KWLQDGSQSL
510 520 530 540 550
FGRLHNDCIY ILIDTSHSMK SKLDLVKDKI IQFIQEQLKY KSKFNFVKFD
560 570 580 590 600
GQAVAWREQL AEVNEDNLEQ AQSWIRDIKI GSSTNTLSAL KTAFADKETQ
610 620 630 640 650
AIYLLTDGRP DQPPETVIDQ VKRFQEIPIY TISFNYNDEI ANRFLKEVAA
660 670 680 690 700
LTGGEFHFYN FGCKDPTPPE AVQNEDLTLL VKEMEQGHSD LEKMQDLYSE
710 720 730 740 750
SLIMDWWYNA EKDGDSKHQK EICSMISTPE KCAKPQSDVD STQTSSLNML
760 770 780 790 800
KGPWGLSDQK VQKKKVLHAE STKTSLLRSQ MSSLRSSACS ERKDGLSNAS
810 820 830 840 850
SRRTALSDKE MSILLAEEWL DDKSSEKVTR EGSQVYDHDS SDVSSENWLK
860 870 880 890 900
TYGLVAKKLT LMDALSVAAV PHSSTYVPVL DKHVVSKVFD EVFPLAHVCN
910 920 930 940 950
DTNKMTLINP QGAKLNIYKR KVEQAIQSYE KRLNKIVWRA LSQEEKEKLD
960 970 980 990 1000
ANKPIQYLEN KTVLNQALER LNWPISLKEL SMLESEILAG KMYIQQAMEL
1010 1020 1030 1040 1050
QEAAKKNYAN KAPGEQQKLQ GNPTKKTKSK RPDPLKGQKV IARCDENGFY
1060 1070 1080 1090 1100
FPGVVKKCVS RTQALVGFSY GDTKVVSTSF ITPVGGAMPC PLLQVGDYVF
1110 1120 1130 1140 1150
AKIVIPKGFD FYVPAIVIAL PNKHVATEKF YTVLKCNNRR EFCPRSALIK
1160 1170 1180 1190 1200
ISQNKYALSC SHIKSPPIPE DPEVEDVEAR NSAFLFWPLK EADTQDSREP
1210 1220 1230 1240 1250
RREKPRRKKR PAKQPLQQAA PSDSDGSSHG ISSHGSCQGT HPEPRTAHLH
1260 1270 1280 1290
FPAAGRLGLS SHAIIATPPP RAALPCTLQA THSSKGLRSV PETL
Length:1,294
Mass (Da):145,748
Last modified:May 18, 2010 - v3
<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:i97D11C329C31060D
GO
Isoform 2 (identifier: Q502W6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     613-624: PPETVIDQVKRF → GTSSHLLLTAAV
     625-1294: Missing.

Show »
Length:624
Mass (Da):70,612
Checksum:i2DF6CDC60FC9A1E8
GO
Isoform 3 (identifier: Q502W6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-878: Missing.
     879-890: VLDKHVVSKVFD → MATKGMRLKSTK

Show »
Length:416
Mass (Da):46,359
Checksum:i563D8DDEA8EE2CAC
GO
Isoform 4 (identifier: Q502W6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-878: Missing.
     879-890: VLDKHVVSKVFD → MATKGMRLKSTK
     1236-1294: SCQGTHPEPR...KGLRSVPETL → PPPLPRGRAS...PQQQRAEERP

Show »
Length:401
Mass (Da):45,166
Checksum:i91CAAA0B4D7FC090
GO
Isoform 5 (identifier: Q502W6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-608: Missing.
     609-612: RPDQ → MCII

Show »
Length:686
Mass (Da):76,766
Checksum:i7CC29A62162C17E7
GO
Isoform 6 (identifier: Q502W6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1246-1294: TAHLHFPAAG...KGLRSVPETL → VWVMGGEHNI...PTSTSPRPGV

Show »
Length:1,312
Mass (Da):148,046
Checksum:iFA0297828A3550C2
GO
Isoform 7 (identifier: Q502W6-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-724: Missing.

Show »
Length:570
Mass (Da):63,272
Checksum:iC8DC1382EEA3D144
GO
Isoform 8 (identifier: Q502W6-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1054-1080: VVKKCVSRTQALVGFSYGDTKVVSTSF → SFFFFNFVRLLLNNLILGTRSFNLCFC
     1081-1294: Missing.

Show »
Length:1,080
Mass (Da):122,697
Checksum:i5C6EAE1CB9745FF3
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEM4H0YEM4_HUMAN
von Willebrand factor A domain-cont...
VWA3B
723Annotation 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>
H0YF54H0YF54_HUMAN
von Willebrand factor A domain-cont...
VWA3B
105Annotation 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>
H0YCW7H0YCW7_HUMAN
von Willebrand factor A domain-cont...
VWA3B
104Annotation 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>
F8WBX4F8WBX4_HUMAN
von Willebrand factor A domain-cont...
VWA3B
423Annotation 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>
F8WD56F8WD56_HUMAN
von Willebrand factor A domain-cont...
VWA3B
101Annotation 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>
F8WD48F8WD48_HUMAN
von Willebrand factor A domain-cont...
VWA3B
303Annotation 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>
F8W737F8W737_HUMAN
von Willebrand factor A domain-cont...
VWA3B
124Annotation 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>
H0YDS6H0YDS6_HUMAN
von Willebrand factor A domain-cont...
VWA3B
82Annotation 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 BAC04047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD89964 differs from that shown. Reason: Frameshift at positions 1071, 1087, 1110, 1147, 1153, 1195 and 1207.Curated
Isoform 8 : The sequence CAD89964 differs from that shown. Reason: Frameshift at position 1058.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 conflicti348C → R in CAD89964 (PubMed:17974005).Curated1
Sequence conflicti416R → C in CAD89964 (PubMed:17974005).Curated1
Sequence conflicti617V → F in BAC04047 (PubMed:14702039).Curated1
Sequence conflicti731K → R in CAD89964 (PubMed:17974005).Curated1
Sequence conflicti889F → L in CAD89964 (PubMed:17974005).Curated1
Sequence conflicti1171D → G in AAH22028 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07643342L → M1 PublicationCorresponds to variant dbSNP:rs200359284Ensembl.1
Natural variantiVAR_043571181R → W1 PublicationCorresponds to variant dbSNP:rs2305355Ensembl.1
Natural variantiVAR_075091622K → T in SCAR22. 1 PublicationCorresponds to variant dbSNP:rs876657414EnsemblClinVar.1
Natural variantiVAR_043572677L → V1 PublicationCorresponds to variant dbSNP:rs7601049Ensembl.1
Natural variantiVAR_043573885V → M2 PublicationsCorresponds to variant dbSNP:rs11889349Ensembl.1
Natural variantiVAR_0570221103I → M. Corresponds to variant dbSNP:rs6731704Ensembl.1
Natural variantiVAR_0435741223D → E. Corresponds to variant dbSNP:rs17428626Ensembl.1
Natural variantiVAR_0435751245R → K3 PublicationsCorresponds to variant dbSNP:rs7587534Ensembl.1
Natural variantiVAR_0435761277T → I. Corresponds to variant dbSNP:rs2271038Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0338341 – 878Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST878
Alternative sequenceiVSP_0338351 – 724Missing in isoform 7. 1 PublicationAdd BLAST724
Alternative sequenceiVSP_0338361 – 608Missing in isoform 5. 1 PublicationAdd BLAST608
Alternative sequenceiVSP_033837609 – 612RPDQ → MCII in isoform 5. 1 Publication4
Alternative sequenceiVSP_033838613 – 624PPETV…QVKRF → GTSSHLLLTAAV in isoform 2. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_033839625 – 1294Missing in isoform 2. 2 PublicationsAdd BLAST670
Alternative sequenceiVSP_033840879 – 890VLDKH…SKVFD → MATKGMRLKSTK in isoform 3 and isoform 4. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_0338411054 – 1080VVKKC…VSTSF → SFFFFNFVRLLLNNLILGTR SFNLCFC in isoform 8. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_0338421081 – 1294Missing in isoform 8. 1 PublicationAdd BLAST214
Alternative sequenceiVSP_0338431236 – 1294SCQGT…VPETL → PPPLPRGRASRTQQPRHHCH TSTSSSPALYSPSHPQQQRA EERP in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0338441246 – 1294TAHLH…VPETL → VWVMGGEHNIAYLRNTLKSL SRIVHLTSSFRFWACLGSSA AKTLTSLSNAELCFPRQPTS TSPRPGV in isoform 6. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK090786 mRNA Translation: BAC03518.1
AK093084 mRNA Translation: BAC04047.1 Different initiation.
AK098841 mRNA Translation: BAC05431.1
AK292397 mRNA Translation: BAF85086.1
AL832635 mRNA Translation: CAD89964.1 Frameshift.
AL834173 mRNA Translation: CAD38871.1
AL834385 mRNA Translation: CAD39048.1
AC018691 Genomic DNA No translation available.
AC092675 Genomic DNA No translation available.
AC112788 Genomic DNA No translation available.
BC022028 mRNA Translation: AAH22028.1
BC095480 mRNA Translation: AAH95480.1
BC150653 mRNA Translation: AAI50654.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42718.1 [Q502W6-1]

NCBI Reference Sequences

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RefSeqi
NP_001332793.1, NM_001345864.1
NP_659429.4, NM_144992.4 [Q502W6-1]
XP_005263954.1, XM_005263897.2 [Q502W6-6]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.269977

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000433678; ENSP00000388158; ENSG00000168658 [Q502W6-2]
ENST00000477737; ENSP00000417955; ENSG00000168658 [Q502W6-1]
ENST00000614454; ENSP00000484764; ENSG00000168658 [Q502W6-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
200403

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:200403

UCSC genome browser

More...
UCSCi
uc002syo.4 human [Q502W6-1]

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
AK090786 mRNA Translation: BAC03518.1
AK093084 mRNA Translation: BAC04047.1 Different initiation.
AK098841 mRNA Translation: BAC05431.1
AK292397 mRNA Translation: BAF85086.1
AL832635 mRNA Translation: CAD89964.1 Frameshift.
AL834173 mRNA Translation: CAD38871.1
AL834385 mRNA Translation: CAD39048.1
AC018691 Genomic DNA No translation available.
AC092675 Genomic DNA No translation available.
AC112788 Genomic DNA No translation available.
BC022028 mRNA Translation: AAH22028.1
BC095480 mRNA Translation: AAH95480.1
BC150653 mRNA Translation: AAI50654.1
CCDSiCCDS42718.1 [Q502W6-1]
RefSeqiNP_001332793.1, NM_001345864.1
NP_659429.4, NM_144992.4 [Q502W6-1]
XP_005263954.1, XM_005263897.2 [Q502W6-6]
UniGeneiHs.269977

3D structure databases

ProteinModelPortaliQ502W6
SMRiQ502W6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128324, 2 interactors
STRINGi9606.ENSP00000417955

PTM databases

iPTMnetiQ502W6
PhosphoSitePlusiQ502W6

Polymorphism and mutation databases

BioMutaiVWA3B
DMDMi296439299

Proteomic databases

EPDiQ502W6
jPOSTiQ502W6
MaxQBiQ502W6
PaxDbiQ502W6
PeptideAtlasiQ502W6
PRIDEiQ502W6
ProteomicsDBi62390
62391 [Q502W6-2]
62392 [Q502W6-3]
62393 [Q502W6-4]
62394 [Q502W6-5]
62395 [Q502W6-6]
62396 [Q502W6-7]
62397 [Q502W6-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000433678; ENSP00000388158; ENSG00000168658 [Q502W6-2]
ENST00000477737; ENSP00000417955; ENSG00000168658 [Q502W6-1]
ENST00000614454; ENSP00000484764; ENSG00000168658 [Q502W6-3]
GeneIDi200403
KEGGihsa:200403
UCSCiuc002syo.4 human [Q502W6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
200403
DisGeNETi200403
EuPathDBiHostDB:ENSG00000168658.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VWA3B

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0002295
HGNCiHGNC:28385 VWA3B
HPAiHPA036700
HPA036701
MalaCardsiVWA3B
MIMi614884 gene
616948 phenotype
neXtProtiNX_Q502W6
OpenTargetsiENSG00000168658
PharmGKBiPA162409004

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFC0 Eukaryota
ENOG410XQPK LUCA
GeneTreeiENSGT00940000157237
HOVERGENiHBG108661
InParanoidiQ502W6
OMAiPTSFITP
OrthoDBi580729at2759
PhylomeDBiQ502W6
TreeFamiTF328978

Miscellaneous databases

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

More...
ChiTaRSi
VWA3B human

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

More...
GenomeRNAii
200403

Protein Ontology

More...
PROi
PR:Q502W6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168658 Expressed in 112 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_VWA3B
ExpressionAtlasiQ502W6 baseline and differential
GenevisibleiQ502W6 HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR032770 DUF4537
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF15057 DUF4537, 1 hit
PF13768 VWA_3, 2 hits
SMARTiView protein in SMART
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiVWA3B_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: Q502W6
Secondary accession number(s): B9EK71
, Q86T73, Q8N2D0, Q8N770, Q8NA79, Q8ND63, Q8ND65, Q8WW02
<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: May 20, 2008
Last sequence update: May 18, 2010
Last modified: January 16, 2019
This is version 99 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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