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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VWA1 Gene

protein-coding   GIFtS: 48
GCID: GC01P001370

von Willebrand factor A domain containing 1
 Explore 1 disease affiliated with
VWA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VWA1    

Aliases
for VWA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Von Willebrand Factor A Domain Containing 11 2
WARP1 2 5
FLJ222151
VWA-11
Von Willebrand Factor A Domain-Containing Protein 12
Von Willebrand Factor A Domain-Related Protein2

External Ids:    HGNC: 309101   Entrez Gene: 648562   Ensembl: ENSG000001794037   OMIM: 6119015   UniProtKB: Q6PCB03   

Export aliases for VWA1 gene to outside databases

Previous GC identifers: GC01P001457 GC01P001360 GC01P000645


Summaries
for VWA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for VWA1:
VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix
proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 (PubMed
12062410)).(supplied by OMIM, Nov 2010)

UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0
Function: Promotes matrix assembly (By similarity)




Genomic Views
for VWA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWA1 gene promoter:
         Bach1   AML1a   Pax-5   GR-beta   ATF-2   XBP-1   C/EBPalpha   CRE-BP1   HEN1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VWA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for VWA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

VWA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001370:  view genomic region     (about GC identifiers)

Start:
 1,370,241 bp from pter      End:
 1,378,262 bp from pter
Size:
 8,022 bases      Orientation:
 plus strand

Proteins
for VWA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 1 precursor  
Size: 445 amino acids; 46804 Da
Subunit: Homodimer or homomultimer. Interacts with HSPG2 (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
Secondary accessions: A8K692 B3KUA1 Q7L5D7 Q9H6J5
Alternative splicing: 2 isoforms:  Q6PCB0-1   Q6PCB0-2   

Explore the universe of human proteins at neXtProt for VWA1: NX_Q6PCB0

Post-translational modifications:

  • N-glycosylated (By similarity)1
  • View neXtProt modification sites for NX_Q6PCB0

    • VWA1 Protein expression data from MOPED and PaxDb:    About this image 
    VWA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_073745.2  NP_954572.2  

    ENSEMBL proteins: 
     ENSP00000463643   ENSP00000423404   ENSP00000417185   ENSP00000464343   ENSP00000385008  

    Human Recombinant Protein Products for VWA1: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005604basement membrane IEA--
    GO:0005614interstitial matrix IEA--
    GO:0031012extracellular matrix ----

    VWA1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for VWA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VWA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q6PCB0

    ProtoNet protein and cluster: Q6PCB0

    1 Blocks protein family: IPB002035 Von Willebrand factor type A domain signature

    UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 1 VWFA domain


    Function
    for VWA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VWA1_HUMAN, Q6PCB0
    Function: Promotes matrix assembly (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    VWA1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Vwa1):
     behavior/neurological  integument  muscle  nervous system  skeleton 

    VWA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for VWA1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VWA1
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate VWA1:
    hsa-miR-661 hsa-miR-4271 hsa-miR-509-5p hsa-miR-491-5p hsa-miR-29a* hsa-miR-509-3-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmid: VWA1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for VWA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VWA1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for VWA1 (Q6PCB03 ENSP000004171854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPG2P981603, ENSP000003638274I2D: score=1 STRING: ENSP00000363827
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030198extracellular matrix organization IEA--
    GO:0048266behavioral response to pain IEA--

    VWA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VWA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VWA1
    Search CenterWatch for drugs/clinical trials and news about VWA1 

    Transcripts
    for VWA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for VWA1 gene (2 alternative transcripts): 
    NM_022834.4  NM_199121.2  

    Unigene Cluster for VWA1:

    Von Willebrand factor A domain containing 1
    Hs.449009  [show with all ESTs]
    Unigene Representative Sequence: NM_022834
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495558 ENST00000338660 ENST00000476993(uc001afs.3) ENST00000471398
    ENST00000404702(uc001afr.3)

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate VWA1:
    hsa-miR-661 hsa-miR-4271 hsa-miR-509-5p hsa-miR-491-5p hsa-miR-29a* hsa-miR-509-3-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmid: VWA1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: VWA1
    OriGene siRNA: VWA1
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK025868.1 AK075366.1 AK096773.1 AK291557.1 AL137722.1 BC003543.1 BC059409.1 

    15 DOTS entries:

    DT.70103179  DT.318405  DT.121440642  DT.100794894  DT.91839434  DT.100794893  DT.102839750  DT.40280238 
    DT.92416976  DT.95154486  DT.121440594  DT.121440619  DT.95328576  DT.100031242  DT.75183532 

    24/229 AceView cDNA sequences (see all 229):

    CA776406 BI791988 BU785484 BM719558 BU072947 CB068687 BU077985 CB068695 
    NM_199121 BQ776746 CA952620 BU078936 BQ417404 AI859403 CA842069 BU786565 
    BQ217368 BQ269512 AI346481 BQ786908 CA776639 BU076251 BU078235 AW205401 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for VWA1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:        -     -                           
    SP2:                                          
    SP3:        -                                 


    ECgene alternative splicing isoforms for VWA1

    Expression
    for VWA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VWA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCAGGACAC
    VWA1 Expression
    About this image

    VWA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See VWA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWA1

    SOURCE GeneReport for Unigene cluster: Hs.449009
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    In Situ
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    Orthologs
    for VWA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for VWA1 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VWA11 von Willebrand factor A domain containing 1 61.84(n)
    53.3(a)    		   419413  XM_417574.3  XP_417574.3 
    lizard
    (Anolis carolinensis)    		 Reptilia VWA16
    		 --
    		 55(a)
    		 1 ↔ 1
    		 AAWZ02039143(6848-8092)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5683791 von Willebrand factor A domain-containing protein 1-like 51.4(n)
    39.84(a)    		   568379  XM_691704.2  XP_696796.2 


    ENSEMBL Gene Tree for VWA1 (if available)
    TreeFam Gene Tree for VWA1 (if available) 

    Paralogs
    for VWA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWA1 gene
    MATN42  COL14A12  COL9A12  MATN32  MATN22  COL12A12  VIT2  COL9A32  
    COCH2  COL9A22  COL20A12  VWA22  COL21A12  MATN12  
    1 SIMAP similar gene for VWA1 using alignment to 4 protein entries:     VWA1_HUMAN (see all proteins):
    COL21A1

    VWA1 for paralogs           About GeneDecksing



    Genomic Variants
    for VWA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/176 NCBI SNPs in VWA1 are shown (see all 176)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1478367281,2
    		--1368943(+) GGCTCA/GGGGCC 2 -- us2k10--------
    rs1488450641,2
    		--1368976(+) GACCCA/GTCCTT 2 -- us2k10--------
    rs796864571,2
    		F--1368990(+) TCTGCC/ATCTTA 2 -- us2k11Minor allele frequency- A:0.50NA 4
    rs1435057681,2
    		--1369077(+) CGGCCC/TGGGCC 2 -- us2k10--------
    rs1479733081,2
    		--1369145(+) CCTCCA/GGGGTG 2 -- us2k10--------
    rs1152883161,2
    		F--1369512(+) GTGAGC/ACTCCC 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1155033381,2
    		F--1369623(+) GCTGCG/AGCCTT 2 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1416308591,2
    		--1369643(+) CTCCAC/TGGCAG 2 -- us2k10--------
    rs1919700421,2
    		--1369794(+) GGAGCA/GCAGCC 2 -- us2k10--------
    rs1451405221,2
    		--1370005(+) CGTTCG/TCCCGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for VWA1 (1370241 - 1378262 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for VWA1
         2 CNVs: 30362 3276

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    Disorders / Diseases
    for VWA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VWA1 for disorders           About GeneDecksing

    OMIM gene information: 611901    OMIM disorders: --

    1 disease for VWA1:    About MalaCards
    byssinosis


    Export disorders for VWA1 gene to outside databases

    Publications
    for VWA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VWA1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with VWA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens? (PubMed id 14527666)1, 3, 9 Fitzgerald J. and Bateman J.F. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins. (PubMed id 12062410)1, 3 Fitzgerald J....Bateman J.F. (2002)
    4. Immunocytochemical distribution of WARP (von Willebra nd A domain-related protein) in the inner ear. (PubMed id 20971096)1 Duong T....Ishiyama G. (2011)
    5. Conformational stability and domain unfolding of the Von Willebrand factor A domains. (PubMed id 17187823)1 Auton M....Moake J. (2007)
    6. WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. (PubMed id 16407285)1 Allen J.M....Fitzgerald J. (2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for VWA1 gene

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    Genome Databases showing VWA1 gene

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    Entrez Gene: 64856 HGNC: 30910 AceView: WARP Ensembl:ENSG00000179403 euGenes: HUgn64856
    ECgene: VWA1 H-InvDB: VWA1

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