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    VWA1 von Willebrand factor A domain containing 1 [ Homo sapiens ]

    Gene ID: 64856, updated on 11-May-2012

    Summary

    Official Symbol
    VWA1provided by HGNC
    Official Full Name
    von Willebrand factor A domain containing 1provided by HGNC
    Primary source
    HGNC:30910
    See related
    Ensembl:ENSG00000179403; HPRD:18292; MIM:611901; Vega:OTTHUMG00000002975
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WARP; FLJ22215; DKFZp761O051
    Summary
    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]

    Genomic context

    Location :
    1p36.33
    Sequence :
    Chromosome: 1; NC_000001.10 (1370903..1378262)
    See VWA1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 65 Neighboring gene transmembrane protein 88B Neighboring gene ATPase family, AAA domain containing 3C Neighboring gene ATPase family, AAA domain containing 3B

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    WARP P98160 HSPG2    HPRD  PubMed  
    WARP WARP VWA1    HPRD  PubMed  

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    von Willebrand factor A domain-containing protein 1
    Names
    von Willebrand factor A domain-containing protein 1
    von Willebrand factor A domain-related protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_022834.4NP_073745.2  von Willebrand factor A domain-containing protein 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL137722, BC059409, BG370349, DB452905
      Consensus CDS
      CCDS27.1
      UniProtKB/Swiss-Prot
      Q6PCB0
      Related
      ENSP00000417185, OTTHUMP00000003018, ENST00000476993, OTTHUMT00000008291
      Conserved Domains (3) summary
      cd00063
      Location:338411
      Blast Score: 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd01472
      Location:34174
      Blast Score: 315
      vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
      cl00065
      Location:215281
      Blast Score: 106
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. NM_199121.2NP_954572.2  von Willebrand factor A domain-containing protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the central coding region, compared to variant 1. The encoded isoform (2) has a significantly shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK096773, AL137722, BG370349, DB452905
      Consensus CDS
      CCDS28.2
      UniProtKB/TrEMBL
      E9PB53
      UniProtKB/Swiss-Prot
      Q6PCB0
      Related
      ENSP00000423404, OTTHUMP00000220538, ENST00000338660, OTTHUMT00000008292

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      1370903..1378262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      644711..652000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL391244.11 CAI22657.1
    genomic CH471183.1 EAW56197.1
      EAW56198.1
      EAW56199.1
      EAW56200.1
      EAW56201.1
    mRNA AK025868.1 BAB15264.1
    mRNA AK075366.1 None
    mRNA AK096773.1 BAG53363.1
    mRNA AK291557.1 BAF84246.1
    mRNA AL137722.1 None
    mRNA BC003543.1 AAH03543.2
    mRNA BC059409.1 AAH59409.1
    mRNA BG370349.1 None
    mRNA BQ100861.1 None
    mRNA BU949921.1 None
    mRNA DB452905.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PCB0.1 GenPept UniProtKB/Swiss-Prot:Q6PCB0

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