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    Cep43 centrosomal protein 43 [ Mus musculus (house mouse) ]

    Gene ID: 75296, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cep43provided by MGI
    Official Full Name
    centrosomal protein 43provided by MGI
    Primary source
    MGI:MGI:1922546
    See related
    Ensembl:ENSMUSG00000069135 AllianceGenome:MGI:1922546
    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
    FOP; Fgfr1op; 4930553O10Rik
    Summary
    Predicted to enable protein homodimerization activity; protein kinase binding activity; and protein tyrosine kinase inhibitor activity. Predicted to be involved in several processes, including negative regulation of protein kinase activity; positive regulation of cell growth; and positive regulation of cell migration. Predicted to be located in centriole; nucleus; and perinuclear region of cytoplasm. Predicted to be active in centrosome. Is expressed in several structures, including intestine; lung; renal tubule; spinal ganglion; and vibrissa follicle. Orthologous to human CEP43 (centrosomal protein 43). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 11.1), CNS E11.5 (RPKM 7.5) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cep43 in Genome Data Viewer
    Location:
    17 A1; 17 4.88 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (8383976..8415309)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (8165143..8196477)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41523 Neighboring gene STARR-seq mESC enhancer starr_41760 Neighboring gene ribonuclease T2A Neighboring gene STARR-positive B cell enhancer mm9_chr17:8358162-8358463 Neighboring gene STARR-positive B cell enhancer ABC_E7487 Neighboring gene STARR-seq mESC enhancer starr_41762 Neighboring gene C-C motif chemokine receptor 6 Neighboring gene predicted gene, 33799 Neighboring gene predicted gene 8465

    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. Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. Cabaud O, et al. Hum Mol Genet, 2018 Oct 1. PMID 29982567
    2. The centrosomal protein FGFR1OP controls myosin function in murine intestinal epithelial cells. Trsan T, et al. Dev Cell, 2024 Sep 23. PMID 38942017,
    3. FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. Guasch G, et al. Blood, 2004 Jan 1. PMID 12969958
    4. The t complex-encoded GTPase-activating protein Tagap1 acts as a transmission ratio distorter in mice. Bauer H, et al. Nat Genet, 2005 Sep. PMID 16116428
    5. A ciliopathy complex builds distal appendages to initiate ciliogenesis. Kumar D, et al. J Cell Biol, 2021 Sep 6. PMID 34241634, Free PMC Article

    See all (27) 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) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC90966, MGC117820

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein tyrosine kinase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein tyrosine kinase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule anchoring IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein 43
    Names
    Fgfr1 oncogene partner

    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_001197046.1 → NP_001183975.1  centrosomal protein 43 isoform 1

      See identical proteins and their annotated locations for NP_001183975.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BB615739, BC108331
      Consensus CDS
      CCDS57045.1
      UniProtKB/Swiss-Prot
      Q32P17, Q66JX5, Q8BH91
      Related
      ENSMUSP00000095030.4, ENSMUST00000097419.10
      Conserved Domains (1) summary
      pfam09398
      Location:54 → 134
      FOP_dimer; FOP N terminal dimerization domain

    2. NM_201230.5 → NP_957682.1  centrosomal protein 43 isoform 2

      See identical proteins and their annotated locations for NP_957682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK016110, AK050389, BC108331
      Consensus CDS
      CCDS28380.1
      UniProtKB/Swiss-Prot
      Q66JX5
      Related
      ENSMUSP00000024636.9, ENSMUST00000024636.15
      Conserved Domains (1) summary
      pfam09398
      Location:54 → 134
      FOP_dimer; FOP N terminal dimerization domain

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      8383976..8415309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030250124.2 → XP_030105984.1  centrosomal protein 43 isoform X1

      UniProtKB/Swiss-Prot
      Q32P17, Q66JX5, Q8BH91
      Conserved Domains (1) summary
      pfam09398
      Location:54 → 134
      FOP_dimer; FOP N terminal dimerization domain

    2. XM_036160821.1 → XP_036016714.1  centrosomal protein 43 isoform X4

    3. XM_006523357.3 → XP_006523420.1  centrosomal protein 43 isoform X2

      Conserved Domains (1) summary
      pfam09398
      Location:54 → 134
      FOP_dimer; FOP N terminal dimerization domain

    4. XM_030250125.1 → XP_030105985.1  centrosomal protein 43 isoform X3

      Conserved Domains (1) summary
      pfam09398
      Location:54 → 134
      FOP_dimer; FOP N terminal dimerization domain

    RNA

    1. XR_004939597.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66JX5.1 GenPept UniProtKB/Swiss-Prot:Q66JX5

    Gene LinkOut

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

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