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    AW551984 expressed sequence AW551984 [ Mus musculus (house mouse) ]

    Gene ID: 244810, updated on 9-Dec-2024

    Summary

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    Official Symbol
    AW551984provided by MGI
    Official Full Name
    expressed sequence AW551984provided by MGI
    Primary source
    MGI:MGI:2143322
    See related
    Ensembl:ENSMUSG00000038112 AllianceGenome:MGI:2143322
    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
    3222402N16
    Summary
    Acts upstream of or within cardiac muscle cell fate commitment. Predicted to be located in nucleoplasm. Is expressed in face mesenchyme and head mesenchyme. Orthologous to human VWA5A (von Willebrand factor A domain containing 5A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 28.1), limb E14.5 (RPKM 17.6) and 6 other tissues See more
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    Genomic context

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    See AW551984 in Genome Data Viewer
    Location:
    9 A5.1; 9 20.98 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (39498692..39516070, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (39587396..39604774, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily D member 3 Neighboring gene olfactory receptor family 10 subfamily D member 1 Neighboring gene olfactory receptor family 10 subfamily N member 1 Neighboring gene olfactory receptor family 10 subfamily D member 4B

    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. AW551984: a novel regulator of cardiomyogenesis in pluripotent embryonic cells. Yasuda S, et al. Biochem J, 2011 Jul 15. PMID 21554246
    2. Systems biology of facial development: contributions of ectoderm and mesenchyme. Hooper JE, et al. Dev Biol, 2017 Jun 1. PMID 28363736, Free PMC Article
    3. Identification of kidney mesenchymal genes by a combination of microarray analysis and Sall1-GFP knockin mice. Takasato M, et al. Mech Dev, 2004 Jun. PMID 15172686
    4. TBX2 and TBX3 act downstream of canonical WNT signaling in patterning and differentiation of the mouse ureteric mesenchyme. Aydoğdu N, et al. Development, 2018 Nov 26. PMID 30478225
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article

    See all (17) citations in PubMed

    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 MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac muscle cell fate commitment IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    BCSC-1

    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_001199556.1 → NP_001186485.1  BCSC-1

      See identical proteins and their annotated locations for NP_001186485.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more frequently occurring transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK028282, AK049098, AK082321, CJ161472
      Consensus CDS
      CCDS23052.1
      UniProtKB/TrEMBL
      Q8BGF0, Q8C1D4
      Related
      ENSMUSP00000113212.2, ENSMUST00000119722.8
      Conserved Domains (2) summary
      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:19 → 620
      marine_srt_targ; marine proteobacterial sortase target protein

    2. NM_001359951.1 → NP_001346880.1  BCSC-1

      Status: VALIDATED

      Source sequence(s)
      AC073434
      Consensus CDS
      CCDS23052.1
      UniProtKB/TrEMBL
      Q8BGF0, Q8C1D4
      Conserved Domains (2) summary
      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:19 → 620
      marine_srt_targ; marine proteobacterial sortase target protein

    3. NM_178737.5 → NP_848852.1  BCSC-1

      See identical proteins and their annotated locations for NP_848852.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a different segment for its 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC073434, AK049098
      Consensus CDS
      CCDS23052.1
      UniProtKB/TrEMBL
      Q8BGF0, Q8C1D4
      Related
      ENSMUSP00000042582.5, ENSMUST00000042485.11
      Conserved Domains (2) summary
      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:19 → 620
      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
      39498692..39516070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510304.1 → XP_006510367.1  BCSC-1 isoform X1

      See identical proteins and their annotated locations for XP_006510367.1

      UniProtKB/TrEMBL
      Q8BGF0, Q8C1D4
      Conserved Domains (2) summary
      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:19 → 620
      marine_srt_targ; marine proteobacterial sortase target protein

    2. XM_006510305.5 → XP_006510368.1  BCSC-1 isoform X2

      UniProtKB/TrEMBL
      Q6P8K4
      Conserved Domains (2) summary
      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:19 → 620
      marine_srt_targ; marine proteobacterial sortase target protein
    Nucleotide Protein Strain
    Heading Accession and Version

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