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    Vwa1 von Willebrand factor A domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 246228, updated on 9-Dec-2024

    Summary

    Official Symbol
    Vwa1provided by MGI
    Official Full Name
    von Willebrand factor A domain containing 1provided by MGI
    Primary source
    MGI:MGI:2179729
    See related
    Ensembl:ENSMUSG00000042116 AllianceGenome:MGI:2179729
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    WARP; 4932416A11Rik
    Summary
    Enables microfibril binding activity and protein homodimerization activity. Acts upstream of or within behavioral response to pain; extracellular matrix organization; and protein homooligomerization. Located in basement membrane; extracellular region; and interstitial matrix. Is active in extracellular matrix. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 7. Orthologous to human VWA1 (von Willebrand factor A domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in duodenum adult (RPKM 40.7), small intestine adult (RPKM 34.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Vwa1 in Genome Data Viewer
    Location:
    4 E2; 4 87.31 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (155852952..155859042, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (155768495..155774693, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 3A Neighboring gene STARR-positive B cell enhancer ABC_E4739 Neighboring gene ATPase family, AAA domain containing 3A, opposite strand Neighboring gene predicted gene, 54273 Neighboring gene transmembrane protein 88B Neighboring gene STARR-seq mESC enhancer starr_12274 Neighboring gene ankyrin repeat domain 65

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfibril binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_147776.4NP_680085.3  von Willebrand factor A domain-containing protein 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AK030019, AK077240, CX210560
      Consensus CDS
      CCDS19039.1
      UniProtKB/Swiss-Prot
      Q8C0Q7, Q8R2Z5, Q8VDV9, Q923K3
      Related
      ENSMUSP00000040405.4, ENSMUST00000042196.4
      Conserved Domains (2) summary
      cd01472
      Location:34172
      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 ...
      pfam00041
      Location:308378
      fn3; Fibronectin type III domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      155852952..155859042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164134.1XP_036020027.1  von Willebrand factor A domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd00063
      Location:96172
      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 ...
      pfam00041
      Location:271
      fn3; Fibronectin type III domain
    2. XM_030253579.2XP_030109439.1  von Willebrand factor A domain-containing protein 1 isoform X2

    RNA

    1. XR_003954953.2 RNA Sequence