Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

von Willebrand factor A domain-containing protein 3B

Gene

VWA3B

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

EuPathDBiHostDB:ENSG00000168658.18
HGNCiHGNC:28385 VWA3B
MIMi614884 gene
neXtProtiNX_Q502W6

Subcellular locationi

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 PublicationCorresponds to variant dbSNP:rs876657414EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi200403
MalaCardsiVWA3B
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
ProteomicsDBi62390
62391 [Q502W6-2]
62392 [Q502W6-3]
62393 [Q502W6-4]
62394 [Q502W6-5]
62395 [Q502W6-6]
62396 [Q502W6-7]
62397 [Q502W6-8]

PTM databases

iPTMnetiQ502W6
PhosphoSitePlusiQ502W6

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA036700
HPA036701

Interactioni

Protein-protein interaction databases

BioGridi128324, 2 interactors
STRINGi9606.ENSP00000417955

Structurei

3D structure databases

ProteinModelPortaliQ502W6
SMRiQ502W6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Phylogenomic databases

eggNOGiENOG410IFC0 Eukaryota
ENOG410XQPK LUCA
GeneTreeiENSGT00530000063623
HOVERGENiHBG108661
InParanoidiQ502W6
OMAiPTSFITP
OrthoDBiEOG091G02CJ
PhylomeDBiQ502W6
TreeFamiTF328978

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

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 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
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

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:
H0YF54H0YF54_HUMAN
von Willebrand factor A domain-cont...
VWA3B
105Annotation score:
H0YCW7H0YCW7_HUMAN
von Willebrand factor A domain-cont...
VWA3B
104Annotation score:
F8WBX4F8WBX4_HUMAN
von Willebrand factor A domain-cont...
VWA3B
423Annotation score:
F8WD56F8WD56_HUMAN
von Willebrand factor A domain-cont...
VWA3B
101Annotation score:
F8WD48F8WD48_HUMAN
von Willebrand factor A domain-cont...
VWA3B
303Annotation score:
F8W737F8W737_HUMAN
von Willebrand factor A domain-cont...
VWA3B
124Annotation score:
H0YDS6H0YDS6_HUMAN
von Willebrand factor A domain-cont...
VWA3B
82Annotation score:

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 → 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
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_001332793.1, NM_001345864.1
NP_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

Similar proteinsi

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
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

CTDi200403
DisGeNETi200403
EuPathDBiHostDB:ENSG00000168658.18
GeneCardsiVWA3B
H-InvDBiHIX0002295
HGNCiHGNC:28385 VWA3B
HPAiHPA036700
HPA036701
MalaCardsiVWA3B
MIMi614884 gene
616948 phenotype
neXtProtiNX_Q502W6
OpenTargetsiENSG00000168658
PharmGKBiPA162409004
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFC0 Eukaryota
ENOG410XQPK LUCA
GeneTreeiENSGT00530000063623
HOVERGENiHBG108661
InParanoidiQ502W6
OMAiPTSFITP
OrthoDBiEOG091G02CJ
PhylomeDBiQ502W6
TreeFamiTF328978

Miscellaneous databases

ChiTaRSiVWA3B human
GenomeRNAii200403
PROiPR:Q502W6
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiVWA3B_HUMAN
AccessioniPrimary (citable) accession number: Q502W6
Secondary accession number(s): B9EK71
, Q86T73, Q8N2D0, Q8N770, Q8NA79, Q8ND63, Q8ND65, Q8WW02
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 97 of the entry and version 3 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

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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again