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    Vwa8 von Willebrand factor A domain containing 8 [ Mus musculus (house mouse) ]

    Gene ID: 219189, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Vwa8provided by MGI
    Official Full Name
    von Willebrand factor A domain containing 8provided by MGI
    Primary source
    MGI:MGI:1919008
    See related
    Ensembl:ENSMUSG00000058997 AllianceGenome:MGI:1919008
    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
    Kiaa0564; mKIAA0564; 1300010F03Rik; 4932416F07Rik
    Summary
    Enables ATP hydrolysis activity. Located in mitochondrion. Is expressed in several structures, including brain; genitourinary system; gut; liver; and spleen. Orthologous to human VWA8 (von Willebrand factor A domain containing 8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 14.4), heart adult (RPKM 12.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Vwa8 in Genome Data Viewer
    Location:
    14 D3; 14 41.9 cM
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (79086489..79439750)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (78849058..79202310)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30584 Neighboring gene X-prolyl aminopeptidase (aminopeptidase P) 1, soluble pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79300732-79300915 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79314100-79314309 Neighboring gene mitochondrial ribosomal protein L22 pseudogene Neighboring gene STARR-seq mESC enhancer starr_37246 Neighboring gene STARR-seq mESC enhancer starr_37249 Neighboring gene predicted gene, 30970 Neighboring gene STARR-seq mESC enhancer starr_37251 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79553872-79554025 Neighboring gene predicted gene, 18081 Neighboring gene predicted gene 4632 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79643421-79643608 Neighboring gene zinc finger protein 957 Neighboring gene STARR-seq mESC enhancer starr_37253 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79667780-79667981 Neighboring gene STARR-seq mESC enhancer starr_37256 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79680321-79680522 Neighboring gene STARR-seq mESC enhancer starr_37257 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79691968-79692228 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:79693274-79693461 Neighboring gene regulator of cell cycle

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. The spatial and developmental expression of mouse Vwa8 (von Willebrand domain-containing protein 8). Grewe BS, et al. Gene Expr Patterns, 2018 Sep. PMID 29660410
    2. Deletion of the Mitochondrial Protein VWA8 Induces Oxidative Stress and an HNF4α Compensatory Response in Hepatocytes. Luo M, et al. Biochemistry, 2019 Dec 10. PMID 31702900, Free PMC Article
    3. Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8). Luo M, et al. Biochem Biophys Res Commun, 2017 Jun 3. PMID 28414126, Free PMC Article
    4. Genetic, morphometric, and behavioral factors linked to the midsagittal area of the corpus callosum. Newbury AJ, et al. Front Genet, 2012. PMID 22666227, Free PMC Article
    5. Integrating genetic and network analysis to characterize genes related to mouse weight. Ghazalpour A, et al. PLoS Genet, 2006 Aug 18. PMID 16934000, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VWA8 null cells had higher levels of oxidative stress and protein degradation; assays of hydrogen peroxide production revealed higher levels of production of reactive oxygen species.
      Title: Deletion of the Mitochondrial Protein VWA8 Induces Oxidative Stress and an HNF4α Compensatory Response in Hepatocytes.
    2. Analyses indicate that the mouse Vwa8 gene produces two transcripts; the full-length Vwa8a is highly expressed relative to the truncated Vwa8b transcript across all developmental time points and tissues analyzed.These data establish the development timeline and expression profile for both Vwa8a and Vwa8b.
      Title: The spatial and developmental expression of mouse Vwa8 (von Willebrand domain-containing protein 8).
    3. The VWA8 protein was targeted exclusively to mitochondria in mouse AML12 liver cells, and this was prevented by deletion of the targeting sequence.
      Title: Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    von Willebrand factor A domain-containing protein 8

    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_027906.1 → NP_082182.1  von Willebrand factor A domain-containing protein 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_082182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes a longer protein isoform (1).
      Source sequence(s)
      AC124709, AC139758, AC155167
      Consensus CDS
      CCDS49550.1
      UniProtKB/Swiss-Prot
      Q3U4P9, Q6ZQ94, Q8CC88, Q8CDH8, Q8VCU3
      Related
      ENSMUSP00000048925.6, ENSMUST00000040990.7
      Conserved Domains (2) summary
      pfam07728
      Location:104 → 260
      AAA_5; AAA domain (dynein-related subfamily)
      cl00057
      Location:1713 → 1902
      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_173758.3 → NP_776119.2  von Willebrand factor A domain-containing protein 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_776119.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents a shorter transcript with a distinct UTR and polyA signal and site, compared to variant 1. The resulting predicted protein (isoform 2) is much shorter than isoform 1.
      Source sequence(s)
      AC124709, AC155167
      Consensus CDS
      CCDS88721.1
      UniProtKB/Swiss-Prot
      Q8CC88
      Related
      ENSMUSP00000154270.2, ENSMUST00000227255.2
      Conserved Domains (1) summary
      pfam07728
      Location:104 → 260
      AAA_5; AAA domain (dynein-related subfamily)

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      79086489..79439750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245038.4 → XP_011243340.1  von Willebrand factor A domain-containing protein 8 isoform X1

      Conserved Domains (3) summary
      COG5271
      Location:229 → 906
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam07728
      Location:104 → 260
      AAA_5; AAA domain (dynein-related subfamily)
      cl38936
      Location:441 → 602
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_003950844.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CC88.2 GenPept UniProtKB/Swiss-Prot:Q8CC88

    Gene LinkOut

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

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