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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 transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A 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.

Pathology & Biotechi

Involvement in diseasei

Defects in VWA3B may be a cause of cerebellar ataxia with intellectual disability.

Organism-specific databases

PharmGKBiPA162409004.

Polymorphism and mutation databases

BioMutaiVWA3B.
DMDMi296439299.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12941294von Willebrand factor A domain-containing protein 3BPRO_0000337040Add
BLAST

Proteomic databases

EPDiQ502W6.
MaxQBiQ502W6.
PaxDbiQ502W6.
PeptideAtlasiQ502W6.
PRIDEiQ502W6.

PTM databases

iPTMnetiQ502W6.
PhosphoSiteiQ502W6.

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 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ502W6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini508 – 684177VWFAPROSITE-ProRule annotationAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti348 – 3481C → R in CAD89964 (PubMed:17974005).Curated
Sequence conflicti416 – 4161R → C in CAD89964 (PubMed:17974005).Curated
Sequence conflicti617 – 6171V → F in BAC04047 (PubMed:14702039).Curated
Sequence conflicti731 – 7311K → R in CAD89964 (PubMed:17974005).Curated
Sequence conflicti889 – 8891F → L in CAD89964 (PubMed:17974005).Curated
Sequence conflicti1171 – 11711D → G in AAH22028 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421L → M Found in a patient with MRT52; unknown pathological significance. 1 Publication
VAR_076433
Natural varianti181 – 1811R → W.1 Publication
Corresponds to variant rs2305355 [ dbSNP | Ensembl ].
VAR_043571
Natural varianti622 – 6221K → T Probable disease-associated mutation found in patients with cerebellar ataxia with intellectual disability. 1 Publication
VAR_075091
Natural varianti677 – 6771L → V.1 Publication
Corresponds to variant rs7601049 [ dbSNP | Ensembl ].
VAR_043572
Natural varianti885 – 8851V → M.2 Publications
Corresponds to variant rs11889349 [ dbSNP | Ensembl ].
VAR_043573
Natural varianti1103 – 11031I → M.
Corresponds to variant rs6731704 [ dbSNP | Ensembl ].
VAR_057022
Natural varianti1223 – 12231D → E.
Corresponds to variant rs17428626 [ dbSNP | Ensembl ].
VAR_043574
Natural varianti1245 – 12451R → K.3 Publications
Corresponds to variant rs7587534 [ dbSNP | Ensembl ].
VAR_043575
Natural varianti1277 – 12771T → I.
Corresponds to variant rs2271038 [ dbSNP | Ensembl ].
VAR_043576

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 878878Missing in isoform 3 and isoform 4. 2 PublicationsVSP_033834Add
BLAST
Alternative sequencei1 – 724724Missing in isoform 7. 1 PublicationVSP_033835Add
BLAST
Alternative sequencei1 – 608608Missing in isoform 5. 1 PublicationVSP_033836Add
BLAST
Alternative sequencei609 – 6124RPDQ → MCII in isoform 5. 1 PublicationVSP_033837
Alternative sequencei613 – 62412PPETV…QVKRF → GTSSHLLLTAAV in isoform 2. 2 PublicationsVSP_033838Add
BLAST
Alternative sequencei625 – 1294670Missing in isoform 2. 2 PublicationsVSP_033839Add
BLAST
Alternative sequencei879 – 89012VLDKH…SKVFD → MATKGMRLKSTK in isoform 3 and isoform 4. 2 PublicationsVSP_033840Add
BLAST
Alternative sequencei1054 – 108027VVKKC…VSTSF → SFFFFNFVRLLLNNLILGTR SFNLCFC in isoform 8. 1 PublicationVSP_033841Add
BLAST
Alternative sequencei1081 – 1294214Missing in isoform 8. 1 PublicationVSP_033842Add
BLAST
Alternative sequencei1236 – 129459SCQGT…VPETL → PPPLPRGRASRTQQPRHHCH TSTSSSPALYSPSHPQQQRA EERP in isoform 4. 1 PublicationVSP_033843Add
BLAST
Alternative sequencei1246 – 129449TAHLH…VPETL → VWVMGGEHNIAYLRNTLKSL SRIVHLTSSFRFWACLGSSA AKTLTSLSNAELCFPRQPTS TSPRPGV in isoform 6. 1 PublicationVSP_033844Add
BLAST

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 interactions.

PTM databases

iPTMnetiQ502W6.
PhosphoSiteiQ502W6.

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.
GeneCardsiVWA3B.
H-InvDBHIX0002295.
HGNCiHGNC:28385. VWA3B.
HPAiHPA036700.
HPA036701.
neXtProtiNX_Q502W6.
PharmGKBiPA162409004.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiVWA3B. human.
GenomeRNAii200403.
PROiQ502W6.

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: September 7, 2016
This is version 85 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. 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.