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    Vwa3b von Willebrand factor A domain containing 3B [ Mus musculus (house mouse) ]

    Gene ID: 70853, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Vwa3bprovided by MGI
    Official Full Name
    von Willebrand factor A domain containing 3Bprovided by MGI
    Primary source
    MGI:MGI:1918103
    See related
    Ensembl:ENSMUSG00000050122 AllianceGenome:MGI:1918103
    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
    Gm555; 4921511C04Rik; A230074B11Rik
    Summary
    Predicted to be located in cytosol and nucleoplasm. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 22. Orthologous to human VWA3B (von Willebrand factor A domain containing 3B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 17.4) See more
    Orthologs
    human all
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    Genomic context

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    See Vwa3b in Genome Data Viewer
    Location:
    1 B; 1 15.46 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (37068372..37226689)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (37029158..37187608)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_00662 Neighboring gene STARR-seq mESC enhancer starr_00663 Neighboring gene STARR-seq mESC enhancer starr_00664 Neighboring gene STARR-positive B cell enhancer mm9_chr1:37057122-37057423 Neighboring gene nuclear encoded rRNA 5S 210 Neighboring gene STARR-seq mESC enhancer starr_00667 Neighboring gene STARR-positive B cell enhancer mm9_chr1:37170690-37170991 Neighboring gene predicted gene, 37020 Neighboring gene STARR-seq mESC enhancer starr_00671 Neighboring gene STARR-seq mESC enhancer starr_00672 Neighboring gene STARR-seq mESC enhancer starr_00673 Neighboring gene STARR-seq mESC enhancer starr_00674 Neighboring gene cyclic nucleotide gated channel alpha 3 Neighboring gene STARR-positive B cell enhancer ABC_E788 Neighboring gene RIKEN cDNA 4930439A04 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:37374616-37374799 Neighboring gene inositol polyphosphate-4-phosphatase, type I

    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
    • 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. Identification and integrative analysis of 28 novel genes specifically expressed and developmentally regulated in murine spermatogenic cells. Hong S, et al. J Biol Chem, 2005 Mar 4. PMID 15613475
    2. CRISPR/Cas9-mediated genome editing reveals 30 testis-enriched genes dispensable for male fertility in mice†. Lu Y, et al. Biol Reprod, 2019 Aug 1. PMID 31201419, Free PMC Article
    3. A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Mural RJ, et al. Science, 2002 May 31. PMID 12040188
    4. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC182824

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    von Willebrand factor A domain-containing protein 3B

    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_001370828.1 → NP_001357757.1  von Willebrand factor A domain-containing protein 3B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122872, AC133096, AC137516
      UniProtKB/TrEMBL
      A0A571BEM6
      Related
      ENSMUSP00000158743.2, ENSMUST00000238500.2
      Conserved Domains (2) summary
      cd00198
      Location:480 → 626
      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 ...
      pfam15057
      Location:1005 → 1129
      DUF4537; Domain of unknown function (DUF4537)

    2. NM_001370829.1 → NP_001357758.1  von Willebrand factor A domain-containing protein 3B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122872, AC137516
      UniProtKB/TrEMBL
      J9JI28
      Conserved Domains (1) summary
      cd00198
      Location:480 → 626
      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 ...

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      37068372..37226689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496379.3 → XP_006496442.1  von Willebrand factor A domain-containing protein 3B isoform X1

      UniProtKB/TrEMBL
      A0A571BEM6
      Conserved Domains (1) summary
      cd00198
      Location:480 → 626
      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. XM_006496380.5 → XP_006496443.1  von Willebrand factor A domain-containing protein 3B isoform X2

      Conserved Domains (1) summary
      cd00198
      Location:480 → 626
      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 ...

    3. XM_006496381.4 → XP_006496444.1  von Willebrand factor A domain-containing protein 3B isoform X3

      Conserved Domains (1) summary
      cd00198
      Location:480 → 626
      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 ...

    4. XM_006496382.3 → XP_006496445.1  von Willebrand factor A domain-containing protein 3B isoform X4

      UniProtKB/TrEMBL
      J9JI28
      Related
      ENSMUSP00000027289.9, ENSMUST00000027289.14
      Conserved Domains (1) summary
      cd00198
      Location:480 → 626
      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 ...

    RNA

    1. XR_001778869.3 RNA Sequence

      Related
      ENSMUST00000238425.2

    2. XR_001778872.3 RNA Sequence

    3. XR_001778870.2 RNA Sequence

    4. XR_001778879.1 RNA Sequence

    5. XR_001778880.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_027580.2: Suppressed sequence

      Description
      NM_027580.2: This RefSeq was temporarily suppressed because the CDS was partial.

    2. NM_177334.3: Suppressed sequence

      Description
      NM_177334.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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