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    Ccdc78 coiled-coil domain containing 78 [ Mus musculus (house mouse) ]

    Gene ID: 381077, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ccdc78provided by MGI
    Official Full Name
    coiled-coil domain containing 78provided by MGI
    Primary source
    MGI:MGI:2685784
    See related
    Ensembl:ENSMUSG00000071202 AllianceGenome:MGI:2685784
    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
    Gm938; Gm950
    Summary
    Predicted to be involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in cytoplasm. Human ortholog(s) of this gene implicated in centronuclear myopathy 4. Orthologous to human CCDC78 (coiled-coil domain containing 78). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in ovary adult (RPKM 8.5), lung adult (RPKM 7.0) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc78 in Genome Data Viewer
    Location:
    17 A3.3; 17 12.89 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (26005554..26009487)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25786580..25790513)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41550 Neighboring gene STARR-positive B cell enhancer ABC_E3191 Neighboring gene cytosolic iron-sulfur assembly component 3 Neighboring gene microRNA 6966 Neighboring gene hydroxyacylglutathione hydrolase-like Neighboring gene STARR-positive B cell enhancer ABC_E5579 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:25929287-25929470 Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene F-box and leucine-rich repeat protein 16

    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. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. Maksimova N, et al. J Med Genet, 2010 Aug. PMID 20577004, Free PMC Article
    2. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (13) 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 (1) 

    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
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in skeletal muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in skeletal muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in deuterosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in deuterosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 78

    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_001165929.1 → NP_001159401.1  coiled-coil domain-containing protein 78

      See identical proteins and their annotated locations for NP_001159401.1

      Status: VALIDATED

      Source sequence(s)
      AC134908
      Consensus CDS
      CCDS50035.1
      UniProtKB/Swiss-Prot
      D3Z5T1
      Related
      ENSMUSP00000093155.5, ENSMUST00000095500.5
      Conserved Domains (1) summary
      pfam14739
      Location:63 → 167
      DUF4472; Domain of unknown function (DUF4472)

    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
      26005554..26009487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317542.3 → XP_017173031.1  coiled-coil domain-containing protein 78 isoform X1

      Conserved Domains (2) summary
      TIGR02168
      Location:50 → 305
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam14739
      Location:63 → 167
      DUF4472; Domain of unknown function (DUF4472)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3Z5T1.2 GenPept UniProtKB/Swiss-Prot:D3Z5T1

    Gene LinkOut

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

    Chemical Information
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