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

Gene ID: 70853, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward testis adult (RPKM 17.4) See more
Orthologs
human all
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Genomic context

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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. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
  5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

See all (16) 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)

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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