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    VWF von Willebrand factor [ Homo sapiens (human) ]

    Gene ID: 7450, updated on 15-Apr-2018
    Official Symbol
    VWFprovided by HGNC
    Official Full Name
    von Willebrand factorprovided by HGNC
    Primary source
    HGNC:HGNC:12726
    See related
    Ensembl:ENSG00000110799 MIM:613160; Vega:OTTHUMG00000168265
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VWD; F8VWF
    Summary
    This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in fat (RPKM 93.4), lung (RPKM 58.7) and 16 other tissues See more
    Orthologs
    Location:
    12p13.31
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (5948874..6124675, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6058040..6233836, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene anoctamin 2 Neighboring gene meiotic recombination hotspot 12D Neighboring gene uncharacterized LOC105369621 Neighboring gene small nucleolar RNA, H/ACA box 120 Neighboring gene RNA, 7SL, cytoplasmic 69, pseudogene Neighboring gene uncharacterized LOC105369623 Neighboring gene uncharacterized LOC105369622 Neighboring gene uncharacterized LOC105369625 Neighboring gene CD9 molecule

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of von Willebrand factor (VWF) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates vWF expression in human mesenchymal stem cells PubMed
    Tat tat HIV-1 Tat inhibits the differentiation of mesenchymal stem cells (MSCs) to endothelial cells by downregulating the expression of VEGF-induced endothelial markers such as Flt-1, KDR and vWF PubMed

    Go to the HIV-1, Human Interaction Database

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    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
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    • p130Cas linkage to MAPK signaling for integrins, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chaperone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    immunoglobulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    hemostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to wounding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular matrix HDA PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    von Willebrand factor
    Names
    coagulation factor VIII VWF

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009072.1 RefSeqGene

      Range
      5001..180797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000552.4NP_000543.2  von Willebrand factor preproprotein

      See identical proteins and their annotated locations for NP_000543.2

      Status: REVIEWED

      Source sequence(s)
      AC005845, AW015780, BQ898017, CD690980, DB293903, M10321, X04385
      Consensus CDS
      CCDS8539.1
      UniProtKB/Swiss-Prot
      P04275
      Related
      ENSP00000261405.5, OTTHUMP00000238431, ENST00000261405.9, OTTHUMT00000399020
      Conserved Domains (12) summary
      smart00041
      Location:27272808
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00214
      Location:22612321
      VWC; von Willebrand factor (vWF) type C domain
      smart00216
      Location:377540
      VWD; von Willebrand factor (vWF) type D domain
      smart00327
      Location:12771449
      VWA; von Willebrand factor (vWF) type A domain
      smart00832
      Location:10531127
      C8; This domain contains 8 conserved cysteine residues
      pfam00092
      Location:14981658
      VWA; von Willebrand factor type A domain
      pfam00093
      Location:25822644
      VWC; von Willebrand factor type C domain
      pfam00094
      Location:19502102
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:652707
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:21362199
      C8; C8 domain
      pfam16164
      Location:11981276
      VWA_N2; VWA N-terminal
      cl17735
      Location:350394
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      5948874..6124675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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