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    R193.2 VWFA domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 182256, updated on 9-Dec-2024

    Summary

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    Official Symbol
    R193.2
    Official Full Name
    VWFA domain-containing protein
    Primary source
    WormBase:WBGene00020128
    Locus tag
    CELE_R193.2
    See related
    AllianceGenome:WB:WBGene00020128
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See R193.2 in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    37
    Sequence:
    Chromosome: X; NC_003284.9 (1132993..1148585, complement)

    Chromosome X - NC_003284.9Genomic Context describing neighboring genes Neighboring gene Lysosome-associated membrane glycoprotein 5 Neighboring gene PX domain-containing protein Neighboring gene Uncharacterized protein Neighboring gene pseudo

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003284.9

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Depletion of endogenously biotinylated carboxylases enhances the sensitivity of TurboID-mediated proximity labeling in Caenorhabditis elegans. Artan M, et al. J Biol Chem, 2022 Sep. PMID 35933017, Free PMC Article
    2. Interactome analysis of Caenorhabditis elegans synapses by TurboID-based proximity labeling. Artan M, et al. J Biol Chem, 2021 Sep. PMID 34416233, Free PMC Article
    3. Genome sequence of the nematode C. elegans: a platform for investigating biology. C. elegans Sequencing Consortium. Science, 1998 Dec 11. PMID 9851916

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    VWFA domain-containing protein
    NP_508218.4
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003284.9 Reference assembly

      Range
      1132993..1148585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_075817.5 → NP_508218.4  VWFA domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_508218.4

      Status: REVIEWED

      UniProtKB/TrEMBL
      G4RW00, Q9N5F6
      Conserved Domains (4) summary
      smart00327
      Location:1701 → 1821
      VWA; von Willebrand factor (vWF) type A domain
      cd00198
      Location:451 → 589
      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 ...
      cd01450
      Location:1496 → 1654
      vWFA_subfamily_ECM; 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 ...
      pfam00092
      Location:1094 → 1265
      VWA; von Willebrand factor type A domain
    Nucleotide Protein
    Heading Accession and Version

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