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    Ccdc78 coiled-coil domain containing 78 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 302996, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ccdc78provided by RGD
    Official Full Name
    coiled-coil domain containing 78provided by RGD
    Primary source
    RGD:1560244
    See related
    EnsemblRapid:ENSRNOG00000022331 AllianceGenome:RGD:1560244
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1560244
    Summary
    Predicted to be involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Predicted to be located in several cellular components, including centriole; deuterosome; and sarcolemma. Predicted to be active 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 Lung (RPKM 40.9), Heart (RPKM 19.4) and 4 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ccdc78 in Genome Data Viewer
    Location:
    10q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (15312403..15316800)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (14808355..14812284)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (15155839..15160039)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene mesothelin Neighboring gene cytosolic iron-sulfur assembly component 3 Neighboring gene hydroxyacylglutathione hydrolase-like 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Majczenko K, et al. Am J Hum Genet, 2012 Aug 10. PMID 22818856, Free PMC Article
    2. 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
    3. Deuterosome-mediated centriole biogenesis. Klos Dehring DA, et al. Dev Cell, 2013 Oct 14. PMID 24075808, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in skeletal muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in deuterosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    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_001430186.1 → NP_001417115.1  coiled-coil domain-containing protein 78 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      F7ELZ7

    2. NM_001430187.1 → NP_001417116.1  coiled-coil domain-containing protein 78 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/TrEMBL
      F7ELZ7

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      15312403..15316800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039087110.2 → XP_038943038.1  coiled-coil domain-containing protein 78 isoform X2

      Conserved Domains (2) summary
      COG3206
      Location:34 → 270
      GumC; Uncharacterized protein involved in exopolysaccharide biosynthesis [Cell wall/membrane/envelope biogenesis]
      pfam14739
      Location:53 → 103
      DUF4472; Domain of unknown function (DUF4472)

    2. XM_063270093.1 → XP_063126163.1  coiled-coil domain-containing protein 78 isoform X1

      Related
      ENSRNOP00000020363.7, ENSRNOT00000020363.8
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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