Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 107 (12 Aug 2020)
Sequence version 2 (20 Feb 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
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

<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 any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5TIE3

<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%5Fand%5Ftaxonomy%5Fsection">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 5B1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:VWA5B1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000158816.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26538, VWA5B1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5TIE3

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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

Secreted

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
127731

Open Targets

More...
OpenTargetsi
ENSG00000158816

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5TIE3, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VWA5B1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172045919

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000032617319 – 1220von Willebrand factor A domain-containing protein 5B1Add BLAST1202

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi140N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi650N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei881PhosphotyrosineCombined sources1
Glycosylationi1017N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5TIE3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5TIE3

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

More...
PaxDbi
Q5TIE3

PeptideAtlas

More...
PeptideAtlasi
Q5TIE3

PRoteomics IDEntifications database

More...
PRIDEi
Q5TIE3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65193 [Q5TIE3-1]
65194 [Q5TIE3-2]
65195 [Q5TIE3-3]
65196 [Q5TIE3-4]
65197 [Q5TIE3-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q5TIE3, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5TIE3

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

More...
PhosphoSitePlusi
Q5TIE3

<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

More...
Bgeei
ENSG00000158816, Expressed in adenohypophysis and 71 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5TIE3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5TIE3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000158816, Tissue enhanced (brain, epididymis, testis)

<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

Protein interaction database and analysis system

More...
IntActi
Q5TIE3, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000364220

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5TIE3, protein

<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

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

More...
SMRi
Q5TIE3

Database of comparative protein structure models

More...
ModBasei
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%5Fand%5Fdomains%5Fsection">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>Domaini19 – 149VITPROSITE-ProRule annotationAdd BLAST131
Domaini361 – 529VWFAPROSITE-ProRule annotationAdd BLAST169

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QVJP, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158938

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_005270_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5TIE3

Identification of Orthologs from Complete Genome Data

More...
OMAi
HKDILHN

Database of Orthologous Groups

More...
OrthoDBi
955432at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5TIE3

TreeFam database of animal gene trees

More...
TreeFami
TF329720

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
IPR013694, VIT
IPR002035, VWF_A
IPR036465, vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13757, VIT_2, 1 hit
PF13768, VWA_3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00327, VWA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53300, SSF53300, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51468, VIT, 1 hit
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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5TIE3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<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: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

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.

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.

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.

Show »
Length:1,190
Mass (Da):130,573
Checksum:i813954C4B00C00CA
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YED8H0YED8_HUMAN
von Willebrand factor A domain-cont...
VWA5B1
444Annotation 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>
E9PNX8E9PNX8_HUMAN
von Willebrand factor A domain-cont...
VWA5B1
298Annotation 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>
E9PP07E9PP07_HUMAN
von Willebrand factor A domain-cont...
VWA5B1
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>
E9PQ62E9PQ62_HUMAN
von Willebrand factor A domain-cont...
VWA5B1
127Annotation 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>
E9PMB3E9PMB3_HUMAN
von Willebrand factor A domain-cont...
VWA5B1
184Annotation 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 BAB71439 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 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
<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_039994319A → S. Corresponds to variant dbSNP:rs2872972Ensembl.1
Natural variantiVAR_039995469N → S. Corresponds to variant dbSNP:rs2072752Ensembl.1
Natural variantiVAR_039996506S → N. Corresponds to variant dbSNP:rs12072406Ensembl.1
Natural variantiVAR_039997634K → R. Corresponds to variant dbSNP:rs10916769Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK057346 mRNA Translation: BAB71439.1 Different initiation.
AK125833 mRNA Translation: BAC86312.1
AL020998 Genomic DNA No translation available.
BC101378 mRNA Translation: AAI01379.1
BC101379 mRNA Translation: AAI01380.1
BC101380 mRNA Translation: AAI01381.1
BC101381 mRNA Translation: AAI01382.1

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000289815; ENSP00000289815; ENSG00000158816 [Q5TIE3-2]
ENST00000375079; ENSP00000364220; ENSG00000158816 [Q5TIE3-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
127731

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:127731

UCSC genome browser

More...
UCSCi
uc009vps.2, human [Q5TIE3-1]

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
AK057346 mRNA Translation: BAB71439.1 Different initiation.
AK125833 mRNA Translation: BAC86312.1
AL020998 Genomic DNA No translation available.
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]

3D structure databases

SMRiQ5TIE3
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ5TIE3, 1 interactor
STRINGi9606.ENSP00000364220

PTM databases

GlyGeniQ5TIE3, 3 sites
iPTMnetiQ5TIE3
PhosphoSitePlusiQ5TIE3

Polymorphism and mutation databases

BioMutaiVWA5B1
DMDMi172045919

Proteomic databases

jPOSTiQ5TIE3
MassIVEiQ5TIE3
PaxDbiQ5TIE3
PeptideAtlasiQ5TIE3
PRIDEiQ5TIE3
ProteomicsDBi65193 [Q5TIE3-1]
65194 [Q5TIE3-2]
65195 [Q5TIE3-3]
65196 [Q5TIE3-4]
65197 [Q5TIE3-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29787, 14 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
127731
DisGeNETi127731
EuPathDBiHostDB:ENSG00000158816.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VWA5B1
HGNCiHGNC:26538, VWA5B1
HPAiENSG00000158816, Tissue enhanced (brain, epididymis, testis)
neXtProtiNX_Q5TIE3
OpenTargetsiENSG00000158816

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QVJP, Eukaryota
GeneTreeiENSGT00940000158938
HOGENOMiCLU_005270_0_0_1
InParanoidiQ5TIE3
OMAiHKDILHN
OrthoDBi955432at2759
PhylomeDBiQ5TIE3
TreeFamiTF329720

Enzyme and pathway databases

PathwayCommonsiQ5TIE3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
127731, 3 hits in 93 CRISPR screens

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

More...
ChiTaRSi
VWA5B1, human

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

More...
GenomeRNAii
127731
PharosiQ5TIE3, Tdark

Protein Ontology

More...
PROi
PR:Q5TIE3
RNActiQ5TIE3, protein

Gene expression databases

BgeeiENSG00000158816, Expressed in adenohypophysis and 71 other tissues
ExpressionAtlasiQ5TIE3, baseline and differential
GenevisibleiQ5TIE3, HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR013694, VIT
IPR002035, VWF_A
IPR036465, vWFA_dom_sf
PfamiView protein in Pfam
PF13757, VIT_2, 1 hit
PF13768, VWA_3, 1 hit
SMARTiView protein in SMART
SM00327, VWA, 1 hit
SUPFAMiSSF53300, SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS51468, VIT, 1 hit
PS50234, VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiVW5B1_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: Q5TIE3
Secondary accession number(s): A4IF35
, A4IF36, Q3ZCM4, Q6ZUB4, Q96M71
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: February 20, 2007
Last modified: August 12, 2020
This is version 107 of the entry and version 2 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

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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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