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Protein

von Willebrand factor A domain-containing protein 5B1

Gene

VWA5B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 5B1
Gene namesi
Name:VWA5B1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26538. VWA5B1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi127731.
OpenTargetsiENSG00000158816.

Polymorphism and mutation databases

BioMutaiVWA5B1.
DMDMi172045919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000032617319 – 1220von Willebrand factor A domain-containing protein 5B1Add BLAST1202

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi140N-linked (GlcNAc...)Sequence analysis1
Glycosylationi650N-linked (GlcNAc...)Sequence analysis1
Modified residuei881PhosphotyrosineCombined sources1
Glycosylationi1017N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ5TIE3.
PeptideAtlasiQ5TIE3.
PRIDEiQ5TIE3.

PTM databases

iPTMnetiQ5TIE3.
PhosphoSitePlusiQ5TIE3.

Expressioni

Gene expression databases

BgeeiENSG00000158816.
CleanExiHS_VWA5B1.
ExpressionAtlasiQ5TIE3. baseline and differential.
GenevisibleiQ5TIE3. HS.

Organism-specific databases

HPAiHPA027496.
HPA028405.

Structurei

3D structure databases

ProteinModelPortaliQ5TIE3.
SMRiQ5TIE3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 149VITPROSITE-ProRule annotationAdd BLAST131
Domaini361 – 529VWFAPROSITE-ProRule annotationAdd BLAST169

Sequence similaritiesi

Contains 1 VIT domain.PROSITE-ProRule annotation
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFPF. Eukaryota.
COG2304. LUCA.
GeneTreeiENSGT00530000063006.
HOGENOMiHOG000049261.
HOVERGENiHBG095596.
InParanoidiQ5TIE3.
OMAiGLAWLEH.
OrthoDBiEOG091G0102.
PhylomeDBiQ5TIE3.
TreeFamiTF329720.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR013694. VIT.
IPR002035. VWF_A.
[Graphical view]
PfamiPF13757. VIT_2. 1 hit.
PF13768. VWA_3. 1 hit.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS51468. VIT. 1 hit.
PS50234. VWFA. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5TIE3-1) [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
MPGLLNWITG AALPLTASDV TSCVSGYALG LTASLTYGNL EAQPFQGLFV
60 70 80 90 100
YPLDECTTVI GFEAVIADRV VTVQIKDKAK LESGHFDASH VRSPTVTGNI
110 120 130 140 150
LQDGVSIAPH SCTPGKVTLD EDLERILFVA NLGTIAPMEN VTIFISTSSE
160 170 180 190 200
LPTLPSGAVR VLLPAVCAPT VPQFCTKSTG TSNQQAQGKD RHCFGAWAPG
210 220 230 240 250
SWNKLCLATL LNTEVSNPME YEFNFQLEIR GPCLLAGVES PTHEIRADAA
260 270 280 290 300
PSARSAKSII ITLANKHTFD RPVEILIHPS EPHMPHVLIE KGDMTLGEFD
310 320 330 340 350
QHLKGRTDFI KGMKKKSRAE RKTEIIRKRL HKDIPHHSVI MLNFCPDLQS
360 370 380 390 400
VQPCLRKAHG EFIFLIDRSS SMSGISMHRV KDAMLVALKS LMPACLFNII
410 420 430 440 450
GFGSTFKSLF PSSQTYSEDS LAMACDDIQR MKADMGGTNI LSPLKWVIRQ
460 470 480 490 500
PVHRGHPRLL FVITDGAVNN TGKVLELVRN HAFSTRCYSF GIGPNVCHRL
510 520 530 540 550
VKGLASVSEG SAELLMEGER LQPKMVKSLK KAMAPVLSDV TVEWIFPETT
560 570 580 590 600
EVLVSPVSAS SLFPGERLVG YGIVCDASLH ISNPRSDKRR RYSMLHSQES
610 620 630 640 650
GSSVFYHSQD DGPGLEGGDC AKNSGAPFIL GQAKNARLAS GDSTTKHDLN
660 670 680 690 700
LSQRRRAYST NQITNHKPLP RATMASDPMP AAKRYPLRKA RLQDLTNQTS
710 720 730 740 750
LDVQRWQIDL QPLLNSGQDL NQGPKLRGPG ARRPSLLPQG CQPFLPWGQE
760 770 780 790 800
TQAWSPVRER TSDSRSPGDL EPSHHPSAFE TETSSDWDPP AESQERASPS
810 820 830 840 850
RPATPAPVLG KALVKGLHDS QRLQWEVSFE LGTPGPERGG AQDADLWSET
860 870 880 890 900
FHHLAARAII RDFEQLAERE GEIEQGSNRR YQVSALHTSK ACNIISKYTA
910 920 930 940 950
FVPVDVSKSR YLPTVVEYPN SAALRMLGSR ALAQQWRGTS SGFGRPQTML
960 970 980 990 1000
GEDSAPGNGK FQALNMEASP TALFSEARSP GREKHGASEG PQRSLATNTL
1010 1020 1030 1040 1050
SSMKASENLF GSWLNLNKSR LLTRAAKGFL SKPLIKAVES TSGNQSFDYI
1060 1070 1080 1090 1100
PLVSLQLASG AFLLNEAFCE ATHIPMEKLK WTSPFTCHRV SLTTRPSESK
1110 1120 1130 1140 1150
TPSPQLCTSS PPRHPSCDSF SLEPLAKGKL GLEPRAVVEH TGKLWATVVG
1160 1170 1180 1190 1200
LAWLEHSSAS YFTEWELVAA KANSWLEQQE VPEGRTQGTL KAAARQLFVL
1210 1220
LRHWDENLEF NMLCYNPNYV
Length:1,220
Mass (Da):133,802
Last modified:February 20, 2007 - v2
Checksum:iC4C0FC22CFE04B0F
GO
Isoform 2 (identifier: Q5TIE3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     921-921: S → SG
     959-965: GKFQALN → D

Note: No experimental confirmation available.
Show »
Length:1,215
Mass (Da):133,216
Checksum:i9B8428036F241592
GO
Isoform 3 (identifier: Q5TIE3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-283: Missing.
     712-730: PLLNSGQDLNQGPKLRGPG → AFICLTSEDTFQIRTPTGQ
     731-1220: Missing.

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):49,747
Checksum:i7456723EA9493358
GO
Isoform 4 (identifier: Q5TIE3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     921-921: S → SG
     960-1016: KFQALNMEAS...ENLFGSWLNL → PRKCSQTLMG...RRTSSTPEPS
     1017-1220: Missing.

Note: No experimental confirmation available.
Show »
Length:1,017
Mass (Da):111,456
Checksum:iAC49F90C5831FA36
GO
Isoform 5 (identifier: Q5TIE3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     921-921: S → SG
     960-990: Missing.

Note: No experimental confirmation available.
Show »
Length:1,190
Mass (Da):130,573
Checksum:i813954C4B00C00CA
GO

Sequence cautioni

The sequence BAB71439 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti302H → R in BAC86312 (PubMed:14702039).Curated1
Sequence conflicti880R → H in AAI01381 (PubMed:15489334).Curated1
Sequence conflicti1208L → R in AAI01381 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039994319A → S.Corresponds to variant rs2872972dbSNPEnsembl.1
Natural variantiVAR_039995469N → S.Corresponds to variant rs2072752dbSNPEnsembl.1
Natural variantiVAR_039996506S → N.Corresponds to variant rs12072406dbSNPEnsembl.1
Natural variantiVAR_039997634K → R.Corresponds to variant rs10916769dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0325801 – 283Missing in isoform 3. 1 PublicationAdd BLAST283
Alternative sequenceiVSP_032581712 – 730PLLNS…LRGPG → AFICLTSEDTFQIRTPTGQ in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_032582731 – 1220Missing in isoform 3. 1 PublicationAdd BLAST490
Alternative sequenceiVSP_040399921S → SG in isoform 2, isoform 4 and isoform 5. 2 Publications1
Alternative sequenceiVSP_040400959 – 965GKFQALN → D in isoform 2. 1 Publication7
Alternative sequenceiVSP_040401960 – 1016KFQAL…SWLNL → PRKCSQTLMGFKTKTETEHS VRGWKPRGALQNQSVLSTSW SHWPPKPRRTSSTPEPS in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_040402960 – 990Missing in isoform 5. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0404031017 – 1220Missing in isoform 4. 1 PublicationAdd BLAST204

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057346 mRNA. Translation: BAB71439.1. Different initiation.
AK125833 mRNA. Translation: BAC86312.1.
AL020998 Genomic DNA. Translation: CAI22621.2.
BC101378 mRNA. Translation: AAI01379.1.
BC101379 mRNA. Translation: AAI01380.1.
BC101380 mRNA. Translation: AAI01381.1.
BC101381 mRNA. Translation: AAI01382.1.
RefSeqiNP_001034589.2. NM_001039500.2. [Q5TIE3-2]
XP_011538985.1. XM_011540683.2. [Q5TIE3-2]
XP_011538986.1. XM_011540684.2. [Q5TIE3-2]
XP_011538987.1. XM_011540685.2. [Q5TIE3-2]
XP_011538990.1. XM_011540688.2. [Q5TIE3-5]
XP_011538995.1. XM_011540693.1. [Q5TIE3-4]
UniGeneiHs.205178.

Genome annotation databases

EnsembliENST00000289815; ENSP00000289815; ENSG00000158816. [Q5TIE3-2]
ENST00000375079; ENSP00000364220; ENSG00000158816. [Q5TIE3-1]
GeneIDi127731.
KEGGihsa:127731.
UCSCiuc009vps.2. human. [Q5TIE3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057346 mRNA. Translation: BAB71439.1. Different initiation.
AK125833 mRNA. Translation: BAC86312.1.
AL020998 Genomic DNA. Translation: CAI22621.2.
BC101378 mRNA. Translation: AAI01379.1.
BC101379 mRNA. Translation: AAI01380.1.
BC101380 mRNA. Translation: AAI01381.1.
BC101381 mRNA. Translation: AAI01382.1.
RefSeqiNP_001034589.2. NM_001039500.2. [Q5TIE3-2]
XP_011538985.1. XM_011540683.2. [Q5TIE3-2]
XP_011538986.1. XM_011540684.2. [Q5TIE3-2]
XP_011538987.1. XM_011540685.2. [Q5TIE3-2]
XP_011538990.1. XM_011540688.2. [Q5TIE3-5]
XP_011538995.1. XM_011540693.1. [Q5TIE3-4]
UniGeneiHs.205178.

3D structure databases

ProteinModelPortaliQ5TIE3.
SMRiQ5TIE3.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ5TIE3.
PhosphoSitePlusiQ5TIE3.

Polymorphism and mutation databases

BioMutaiVWA5B1.
DMDMi172045919.

Proteomic databases

PaxDbiQ5TIE3.
PeptideAtlasiQ5TIE3.
PRIDEiQ5TIE3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289815; ENSP00000289815; ENSG00000158816. [Q5TIE3-2]
ENST00000375079; ENSP00000364220; ENSG00000158816. [Q5TIE3-1]
GeneIDi127731.
KEGGihsa:127731.
UCSCiuc009vps.2. human. [Q5TIE3-1]

Organism-specific databases

CTDi127731.
DisGeNETi127731.
GeneCardsiVWA5B1.
H-InvDBHIX0000215.
HGNCiHGNC:26538. VWA5B1.
HPAiHPA027496.
HPA028405.
neXtProtiNX_Q5TIE3.
OpenTargetsiENSG00000158816.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFPF. Eukaryota.
COG2304. LUCA.
GeneTreeiENSGT00530000063006.
HOGENOMiHOG000049261.
HOVERGENiHBG095596.
InParanoidiQ5TIE3.
OMAiGLAWLEH.
OrthoDBiEOG091G0102.
PhylomeDBiQ5TIE3.
TreeFamiTF329720.

Miscellaneous databases

GenomeRNAii127731.
PROiQ5TIE3.

Gene expression databases

BgeeiENSG00000158816.
CleanExiHS_VWA5B1.
ExpressionAtlasiQ5TIE3. baseline and differential.
GenevisibleiQ5TIE3. HS.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR013694. VIT.
IPR002035. VWF_A.
[Graphical view]
PfamiPF13757. VIT_2. 1 hit.
PF13768. VWA_3. 1 hit.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS51468. VIT. 1 hit.
PS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVW5B1_HUMAN
AccessioniPrimary (citable) accession number: Q5TIE3
Secondary accession number(s): A4IF35
, A4IF36, Q3ZCM4, Q6ZUB4, Q96M71
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: February 20, 2007
Last modified: November 2, 2016
This is version 84 of the entry and version 2 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 1
    Human chromosome 1: 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.