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    Vwa5a von Willebrand factor A domain containing 5A [ Mus musculus (house mouse) ]

    Gene ID: 67776, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Vwa5aprovided by MGI
    Official Full Name
    von Willebrand factor A domain containing 5Aprovided by MGI
    Primary source
    MGI:MGI:1915026
    See related
    Ensembl:ENSMUSG00000023186 AllianceGenome:MGI:1915026
    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
    BCSC-1; Loh11cr2a; E130119J22; 5830475I06Rik
    Summary
    Predicted to be an extracellular matrix structural constituent. Located in collagen-containing extracellular matrix. Orthologous to human VWA5A (von Willebrand factor A domain containing 5A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 18.6), mammary gland adult (RPKM 11.6) and 27 other tissues See more
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    Genomic context

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    Location:
    9 A5.1; 9 20.89 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (38629564..38654633)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (38718268..38743337)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor GA_x5J8B7W60AJ-925630-926226 Neighboring gene olfactory receptor family 8 subfamily G member 51 Neighboring gene olfactory receptor family 8 subfamily B member 53 Neighboring gene olfactory receptor family 8 subfamily B member 54

    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. The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor gene. Martin ES, et al. Proc Natl Acad Sci U S A, 2003 Sep 30. PMID 14504409, Free PMC Article
    2. Decreased Anxiety-Related Behaviour but Apparently Unperturbed NUMB Function in Ligand of NUMB Protein-X (LNX) 1/2 Double Knockout Mice. Lenihan JA, et al. Mol Neurobiol, 2017 Dec. PMID 27889896
    3. Vti1b promotes TRPV1 sensitization during inflammatory pain. Sondermann JR, et al. Pain, 2019 Feb. PMID 30335684
    4. The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices. Naba A, et al. Mol Cell Proteomics, 2012 Apr. PMID 22159717, Free PMC Article
    5. Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Naba A, et al. Sci Rep, 2017 Jan 10. PMID 28071719, Free PMC Article

    See all (21) 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)
    • Endonuclease-mediated (4) 

    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 extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    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
    located_in collagen-containing extracellular matrix HDA PubMed 
    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 5A
    Names
    loss of heterozygosity, 11, chromosomal region 2, gene A homolog

    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_001145957.1 → NP_001139429.1  von Willebrand factor A domain-containing protein 5A

      See identical proteins and their annotated locations for NP_001139429.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK161193, AY366502, BB856505
      Consensus CDS
      CCDS23024.1
      UniProtKB/Swiss-Prot
      Q3TTU2, Q3UVU1, Q3V3F2, Q6UN22, Q8BHA8, Q99KC8, Q9CTV9
      Related
      ENSMUSP00000113596.2, ENSMUST00000118144.8
      Conserved Domains (3) summary
      smart00609
      Location:1 → 131
      VIT; Vault protein Inter-alpha-Trypsin domain
      cd01461
      Location:279 → 456
      vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
      TIGR03788
      Location:20 → 617
      marine_srt_targ; marine proteobacterial sortase target protein

    2. NM_172767.3 → NP_766355.3  von Willebrand factor A domain-containing protein 5A

      See identical proteins and their annotated locations for NP_766355.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK054497, AK136934, AY366502, BB856505
      Consensus CDS
      CCDS23024.1
      UniProtKB/Swiss-Prot
      Q3TTU2, Q3UVU1, Q3V3F2, Q6UN22, Q8BHA8, Q99KC8, Q9CTV9
      Related
      ENSMUSP00000001544.6, ENSMUST00000001544.12
      Conserved Domains (3) summary
      smart00609
      Location:1 → 131
      VIT; Vault protein Inter-alpha-Trypsin domain
      cd01461
      Location:279 → 456
      vWA_interalpha_trypsin_inhibitor; vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to ...
      TIGR03788
      Location:20 → 617
      marine_srt_targ; marine proteobacterial sortase target protein

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      38629564..38654633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99KC8.2 GenPept UniProtKB/Swiss-Prot:Q99KC8

    Gene LinkOut

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

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