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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-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 3B
Short name:
VWA domain-containing protein 3B
Gene namesi
Name:VWA3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:28385. VWA3B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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
Natural variantiVAR_075091622K → T in SCAR22. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi200403.
MIMi616948. phenotype.
OpenTargetsiENSG00000168658.
PharmGKBiPA162409004.

Polymorphism and mutation databases

BioMutaiVWA3B.
DMDMi296439299.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003370401 – 1294von Willebrand factor A domain-containing protein 3BAdd BLAST1294

Proteomic databases

EPDiQ502W6.
MaxQBiQ502W6.
PaxDbiQ502W6.
PeptideAtlasiQ502W6.
PRIDEiQ502W6.

PTM databases

iPTMnetiQ502W6.
PhosphoSitePlusiQ502W6.

Expressioni

Gene expression databases

BgeeiENSG00000168658.
CleanExiHS_VWA3B.
ExpressionAtlasiQ502W6. baseline and differential.
GenevisibleiQ502W6. HS.

Organism-specific databases

HPAiHPA036700.
HPA036701.

Interactioni

Protein-protein interaction databases

BioGridi128324. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ502W6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini508 – 684VWFAPROSITE-ProRule annotationAdd BLAST177

Sequence similaritiesi

Contains 1 VWFA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFC0. Eukaryota.
ENOG410XQPK. LUCA.
GeneTreeiENSGT00530000063623.
HOVERGENiHBG108661.
InParanoidiQ502W6.
OMAiCREALTM.
OrthoDBiEOG091G02CJ.
PhylomeDBiQ502W6.
TreeFamiTF328978.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR032770. DUF4537.
IPR002035. VWF_A.
[Graphical view]
PfamiPF15057. DUF4537. 1 hit.
PF13768. VWA_3. 2 hits.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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 → M.1 PublicationCorresponds to variant rs200359284dbSNPEnsembl.1
Natural variantiVAR_043571181R → W.1 PublicationCorresponds to variant rs2305355dbSNPEnsembl.1
Natural variantiVAR_075091622K → T in SCAR22. 1 Publication1
Natural variantiVAR_043572677L → V.1 PublicationCorresponds to variant rs7601049dbSNPEnsembl.1
Natural variantiVAR_043573885V → M.2 PublicationsCorresponds to variant rs11889349dbSNPEnsembl.1
Natural variantiVAR_0570221103I → M.Corresponds to variant rs6731704dbSNPEnsembl.1
Natural variantiVAR_0435741223D → E.Corresponds to variant rs17428626dbSNPEnsembl.1
Natural variantiVAR_0435751245R → K.3 PublicationsCorresponds to variant rs7587534dbSNPEnsembl.1
Natural variantiVAR_0435761277T → I.Corresponds to variant rs2271038dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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_659429.4. NM_144992.4. [Q502W6-1]
XP_005263954.1. XM_005263897.2. [Q502W6-6]
UniGeneiHs.269977.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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_659429.4. NM_144992.4. [Q502W6-1]
XP_005263954.1. XM_005263897.2. [Q502W6-6]
UniGeneiHs.269977.

3D structure databases

ProteinModelPortaliQ502W6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128324. 2 interactors.

PTM databases

iPTMnetiQ502W6.
PhosphoSitePlusiQ502W6.

Polymorphism and mutation databases

BioMutaiVWA3B.
DMDMi296439299.

Proteomic databases

EPDiQ502W6.
MaxQBiQ502W6.
PaxDbiQ502W6.
PeptideAtlasiQ502W6.
PRIDEiQ502W6.

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

CTDi200403.
DisGeNETi200403.
GeneCardsiVWA3B.
H-InvDBHIX0002295.
HGNCiHGNC:28385. VWA3B.
HPAiHPA036700.
HPA036701.
MIMi614884. gene.
616948. phenotype.
neXtProtiNX_Q502W6.
OpenTargetsiENSG00000168658.
PharmGKBiPA162409004.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFC0. Eukaryota.
ENOG410XQPK. LUCA.
GeneTreeiENSGT00530000063623.
HOVERGENiHBG108661.
InParanoidiQ502W6.
OMAiCREALTM.
OrthoDBiEOG091G02CJ.
PhylomeDBiQ502W6.
TreeFamiTF328978.

Miscellaneous databases

ChiTaRSiVWA3B. human.
GenomeRNAii200403.
PROiQ502W6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168658.
CleanExiHS_VWA3B.
ExpressionAtlasiQ502W6. baseline and differential.
GenevisibleiQ502W6. HS.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR032770. DUF4537.
IPR002035. VWF_A.
[Graphical view]
PfamiPF15057. DUF4537. 1 hit.
PF13768. VWA_3. 2 hits.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVWA3B_HUMAN
AccessioniPrimary (citable) accession number: Q502W6
Secondary accession number(s): B9EK71
, Q86T73, Q8N2D0, Q8N770, Q8NA79, Q8ND63, Q8ND65, Q8WW02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 88 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.