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Entry version 140 (12 Aug 2020)
Sequence version 2 (24 Nov 2009)
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Protein

von Willebrand factor C and EGF domain-containing protein

Gene

VWCE

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

Annotation score:5 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

May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<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>Keywordsi

LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96DN2

<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 C and EGF domain-containing protein
Alternative name(s):
HBV X protein up-regulated gene 11 protein
HBxAg up-regulated gene 11 protein
<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:VWCE
Synonyms:URG11
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000167992.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26487, VWCE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611115, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96DN2

<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

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
220001

Open Targets

More...
OpenTargetsi
ENSG00000167992

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485669

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96DN2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VWCE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849477

<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 – 21Sequence analysisAdd BLAST21
<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_000031858022 – 955von Willebrand factor C and EGF domain-containing proteinAdd BLAST934

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi146 ↔ 155PROSITE-ProRule annotation
Disulfide bondi151 ↔ 164PROSITE-ProRule annotation
Disulfide bondi166 ↔ 179PROSITE-ProRule annotation
Disulfide bondi185 ↔ 194PROSITE-ProRule annotation
Disulfide bondi190 ↔ 203PROSITE-ProRule annotation
Disulfide bondi205 ↔ 218PROSITE-ProRule annotation
Disulfide bondi224 ↔ 237PROSITE-ProRule annotation
Disulfide bondi233 ↔ 246PROSITE-ProRule annotation
Disulfide bondi248 ↔ 261PROSITE-ProRule annotation
<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>Glycosylationi462N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi472N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96DN2

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

More...
PaxDbi
Q96DN2

PeptideAtlas

More...
PeptideAtlasi
Q96DN2

PRoteomics IDEntifications database

More...
PRIDEi
Q96DN2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76297 [Q96DN2-1]
76298 [Q96DN2-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q96DN2, 7 sites, 2 O-linked glycans (5 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96DN2

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

More...
PhosphoSitePlusi
Q96DN2

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in liver.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By HBxAg.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167992, Expressed in liver and 139 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96DN2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96DN2, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000167992, Tissue enhanced (liver, ovary)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
128616, 63 interactors

Protein interaction database and analysis system

More...
IntActi
Q96DN2, 61 interactors

Molecular INTeraction database

More...
MINTi
Q96DN2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000334186

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96DN2, 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
Q96DN2

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>Domaini70 – 98EGF-like 1PROSITE-ProRule annotationAdd BLAST29
Domaini142 – 180EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini181 – 219EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini220 – 262EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini384 – 441VWFC 1PROSITE-ProRule annotationAdd BLAST58
Domaini442 – 502VWFC 2PROSITE-ProRule annotationAdd BLAST61
Domaini503 – 560VWFC 3PROSITE-ProRule annotationAdd BLAST58
Domaini566 – 626VWFC 4PROSITE-ProRule annotationAdd BLAST61
Domaini627 – 685VWFC 5PROSITE-ProRule annotationAdd BLAST59
Domaini686 – 743VWFC 6PROSITE-ProRule annotationAdd BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi285 – 288Poly-Leu4
Compositional biasi835 – 872Pro-richAdd BLAST38

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1216, Eukaryota
KOG1217, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161089

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1261118_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96DN2

Identification of Orthologs from Complete Genome Data

More...
OMAi
CPLCTGC

Database of Orthologous Groups

More...
OrthoDBi
1223914at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96DN2

TreeFam database of animal gene trees

More...
TreeFami
TF330819

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001881, EGF-like_Ca-bd_dom
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR009030, Growth_fac_rcpt_cys_sf
IPR001007, VWF_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07645, EGF_CA, 3 hits
PF00093, VWC, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181, EGF, 4 hits
SM00179, EGF_CA, 3 hits
SM00214, VWC, 6 hits
SM00215, VWC_out, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184, SSF57184, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010, ASX_HYDROXYL, 3 hits
PS00022, EGF_1, 1 hit
PS01186, EGF_2, 2 hits
PS50026, EGF_3, 3 hits
PS01187, EGF_CA, 3 hits
PS01208, VWFC_1, 5 hits
PS50184, VWFC_2, 5 hits

<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 (2+)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 2 <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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96DN2-1) [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
MWAGLLLRAA CVALLLPGAP ARGYTGRKPP GHFAAERRRL GPHVCLSGFG
60 70 80 90 100
SGCCPGWAPS MGGGHCTLPL CSFGCGSGIC IAPNVCSCQD GEQGATCPET
110 120 130 140 150
HGPCGEYGCD LTCNHGGCQE VARVCPVGFS MTETAVGIRC TDIDECVTSS
160 170 180 190 200
CEGHCVNTEG GFVCECGPGM QLSADRHSCQ DTDECLGTPC QQRCKNSIGS
210 220 230 240 250
YKCSCRTGFH LHGNRHSCVD VNECRRPLER RVCHHSCHNT VGSFLCTCRP
260 270 280 290 300
GFRLRADRVS CEAFPKAVLA PSAILQPRQH PSKMLLLLPE AGRPALSPGH
310 320 330 340 350
SPPSGAPGPP AGVRTTRLPS PTPRLPTSSP SAPVWLLSTL LATPVPTASL
360 370 380 390 400
LGNLRPPSLL QGEVMGTPSS PRGPESPRLA AGPSPCWHLG AMHESRSRWT
410 420 430 440 450
EPGCSQCWCE DGKVTCEKVR CEAACSHPIP SRDGGCCPSC TGCFHSGVVR
460 470 480 490 500
AEGDVFSPPN ENCTVCVCLA GNVSCISPEC PSGPCQTPPQ TDCCTCVPVR
510 520 530 540 550
CYFHGRWYAD GAVFSGGGDE CTTCVCQNGE VECSFMPCPE LACPREEWRL
560 570 580 590 600
GPGQCCFTCQ EPTPSTGCSL DDNGVEFPIG QIWSPGDPCE LCICQADGSV
610 620 630 640 650
SCKRTDCVDS CPHPIRIPGQ CCPDCSAGCT YTGRIFYNNE TFPSVLDPCL
660 670 680 690 700
SCICLLGSVA CSPVDCPITC TYPFHPDGEC CPVCRDCNYE GRKVANGQVF
710 720 730 740 750
TLDDEPCTRC TCQLGEVSCE KVPCQRACAD PALLPGDCCS SCPDSLSPLE
760 770 780 790 800
EKQGLSPHGN VAFSKAGRSL HGDTEAPVNC SSCPGPPTAS PSRPVLHLLQ
810 820 830 840 850
LLLRTNLMKT QTLPTSPAGA HGPHSLALGL TATFPGEPGA SPRLSPGPST
860 870 880 890 900
PPGAPTLPLA SPGAPQPPPV TPERSFSASG AQIVSRWPPL PGTLLTEASA
910 920 930 940 950
LSMMDPSPSK TPITLLGPRV LSPTTSRLST ALAATTHPGP QQPPVGASRG

EESTM
Length:955
Mass (Da):99,915
Last modified:November 24, 2009 - 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:iB745618AD37E712B
GO
Isoform 2 (identifier: Q96DN2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-219: V → M
     220-955: Missing.

Show »
Length:219
Mass (Da):22,790
Checksum:iB018610FE43DAE45
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVD8A0A087WVD8_HUMAN
von Willebrand factor C and EGF dom...
VWCE
670Annotation 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>
B4DY31B4DY31_HUMAN
cDNA FLJ51386
VWCE
420Annotation 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>
B4DS56B4DS56_HUMAN
cDNA FLJ58937
VWCE
173Annotation 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 AAO47606 differs from that shown. Reason: Frameshift.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 conflicti134T → A in BAB71219 (PubMed:14702039).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_038782842P → R. Corresponds to variant dbSNP:rs3750982Ensembl.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_031230219V → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_031231220 – 955Missing in isoform 2. 1 PublicationAdd BLAST736

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
AK056571 mRNA Translation: BAB71219.1
BC052564 mRNA No translation available.
BC077719 mRNA No translation available.
BC142624 mRNA Translation: AAI42625.1
CH471076 Genomic DNA Translation: EAW73932.1
AY205235 mRNA Translation: AAO47606.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8002.1 [Q96DN2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_689931.2, NM_152718.2 [Q96DN2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000301770; ENSP00000301770; ENSG00000167992 [Q96DN2-2]
ENST00000335613; ENSP00000334186; ENSG00000167992 [Q96DN2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
220001

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:220001

UCSC genome browser

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UCSCi
uc001nra.4, human [Q96DN2-1]

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
AK056571 mRNA Translation: BAB71219.1
BC052564 mRNA No translation available.
BC077719 mRNA No translation available.
BC142624 mRNA Translation: AAI42625.1
CH471076 Genomic DNA Translation: EAW73932.1
AY205235 mRNA Translation: AAO47606.1 Frameshift.
CCDSiCCDS8002.1 [Q96DN2-1]
RefSeqiNP_689931.2, NM_152718.2 [Q96DN2-1]

3D structure databases

SMRiQ96DN2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128616, 63 interactors
IntActiQ96DN2, 61 interactors
MINTiQ96DN2
STRINGi9606.ENSP00000334186

PTM databases

GlyGeniQ96DN2, 7 sites, 2 O-linked glycans (5 sites)
iPTMnetiQ96DN2
PhosphoSitePlusiQ96DN2

Polymorphism and mutation databases

BioMutaiVWCE
DMDMi269849477

Proteomic databases

MassIVEiQ96DN2
PaxDbiQ96DN2
PeptideAtlasiQ96DN2
PRIDEiQ96DN2
ProteomicsDBi76297 [Q96DN2-1]
76298 [Q96DN2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
52915, 99 antibodies

Genome annotation databases

EnsembliENST00000301770; ENSP00000301770; ENSG00000167992 [Q96DN2-2]
ENST00000335613; ENSP00000334186; ENSG00000167992 [Q96DN2-1]
GeneIDi220001
KEGGihsa:220001
UCSCiuc001nra.4, human [Q96DN2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
220001
DisGeNETi220001
EuPathDBiHostDB:ENSG00000167992.12

GeneCards: human genes, protein and diseases

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GeneCardsi
VWCE
HGNCiHGNC:26487, VWCE
HPAiENSG00000167992, Tissue enhanced (liver, ovary)
MIMi611115, gene
neXtProtiNX_Q96DN2
OpenTargetsiENSG00000167992
PharmGKBiPA143485669

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1216, Eukaryota
KOG1217, Eukaryota
GeneTreeiENSGT00940000161089
HOGENOMiCLU_1261118_0_0_1
InParanoidiQ96DN2
OMAiCPLCTGC
OrthoDBi1223914at2759
PhylomeDBiQ96DN2
TreeFamiTF330819

Enzyme and pathway databases

PathwayCommonsiQ96DN2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
220001, 14 hits in 873 CRISPR screens

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

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ChiTaRSi
VWCE, human

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

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GenomeRNAii
220001
PharosiQ96DN2, Tbio

Protein Ontology

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PROi
PR:Q96DN2
RNActiQ96DN2, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000167992, Expressed in liver and 139 other tissues
ExpressionAtlasiQ96DN2, baseline and differential
GenevisibleiQ96DN2, HS

Family and domain databases

InterProiView protein in InterPro
IPR001881, EGF-like_Ca-bd_dom
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR009030, Growth_fac_rcpt_cys_sf
IPR001007, VWF_dom
PfamiView protein in Pfam
PF07645, EGF_CA, 3 hits
PF00093, VWC, 4 hits
SMARTiView protein in SMART
SM00181, EGF, 4 hits
SM00179, EGF_CA, 3 hits
SM00214, VWC, 6 hits
SM00215, VWC_out, 3 hits
SUPFAMiSSF57184, SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010, ASX_HYDROXYL, 3 hits
PS00022, EGF_1, 1 hit
PS01186, EGF_2, 2 hits
PS50026, EGF_3, 3 hits
PS01187, EGF_CA, 3 hits
PS01208, VWFC_1, 5 hits
PS50184, VWFC_2, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiVWCE_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: Q96DN2
Secondary accession number(s): A5PKV0, Q7Z7L6, Q86WK8
<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: February 5, 2008
Last sequence update: November 24, 2009
Last modified: August 12, 2020
This is version 140 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 chromosome 11
    Human chromosome 11: 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
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