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

Gene ID: 182256, updated on 2-Nov-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, Nov 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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