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

Gene ID: 244810, updated on 17-Aug-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, Apr 2022]
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 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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