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

    Gene ID: 64856, updated on 5-Mar-2024

    Summary

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    Official Symbol
    VWA1provided by HGNC
    Official Full Name
    von Willebrand factor A domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30910
    See related
    Ensembl:ENSG00000179403 MIM:611901; AllianceGenome:HGNC:30910
    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; HMNR7; HMNMYO
    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]
    Expression
    Broad expression in prostate (RPKM 28.1), placenta (RPKM 11.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VWA1 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1435690..1442882)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (870050..877242)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1371070..1378262)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1360776-1361641 Neighboring gene transmembrane protein 88B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1367749-1368492 Neighboring gene uncharacterized LOC107985729 Neighboring gene long intergenic non-protein coding RNA 1770 Neighboring gene Sharpr-MPRA regulatory region 8235 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1370998-1371187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1389959-1390458 Neighboring gene ATPase family AAA domain containing 3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1397006-1397780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 75 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1409130-1409976 Neighboring gene ATPase family AAA domain containing 3B Neighboring gene MPRA-validated peak11 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1443749-1444392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1444393-1445034

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Deschauer M, et al. Brain, 2021 Mar 3. PMID 33459760
    2. Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear. Duong T, et al. Brain Res, 2011 Jan 7. PMID 20971096, Free PMC Article
    3. Conformational stability and domain unfolding of the Von Willebrand factor A domains. Auton M, et al. J Mol Biol, 2007 Feb 23. PMID 17187823
    4. Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics. Ju L, et al. Thromb Res, 2015 Sep. PMID 26213126, Free PMC Article
    5. The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes. Klatt AR, et al. Osteoarthritis Cartilage, 2013 Jun. PMID 23523902

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
      Title: Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
    2. Our results reveal the molecular mechanism of collagen-regulated, A1-mediated platelet adhesion enhancement.
      Title: Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics.
    3. The VWA1 domain of matrilin-3 is primarily responsible for the induction of IL-6 release from primary human chondrocytes.
      Title: The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes.
    4. WARP is ideally placed to function as an adapter protein in the cartilage pericellular matrix.
      Title: WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes.
    5. The distinct localization of WARP in the human and mouse inner ear blood vessels suggests an important role maintaining the integrity of the vasculature.
      Title: Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear.
    6. Urea was used as a surrogate for shear to study denaturation of the individual VWF recombinant A domains, A1, A2, and A3, and the domain triplet, A1-A2-A3.
      Title: Conformational stability and domain unfolding of the Von Willebrand factor A domains.
    7. WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages
      Title: WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan.
    8. Evolutionary relationship between von Willebrand factor A domain-related protein (WARP), and the fibril-associated collagen with interrupted triple helix (FACIT) and FACIT-like subfamilies of collagens.
      Title: Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens?
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neuronopathy, distal hereditary motor, autosomal recessive 7
    MedGen: C5543119 OMIM: 619216 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22215, DKFZp761O051

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables microfibril binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in behavioral response to pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_022834.5 → NP_073745.2  von Willebrand factor A domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_073745.2

      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
      A8K692, B3KUA1, E9PB53, Q6PCB0, Q7L5D7, Q9H6J5
      Related
      ENSP00000417185.1, ENST00000476993.2
      Conserved Domains (2) summary
      pfam00041
      Location:335 → 405
      fn3; Fibronectin type III domain
      cl00057
      Location:34 → 194
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. NM_199121.3 → NP_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/Swiss-Prot
      Q6PCB0
      Related
      ENSP00000423404.1, ENST00000338660.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1435690..1442882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      870050..877242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PCB0.1 GenPept UniProtKB/Swiss-Prot:Q6PCB0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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