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

Gene ID: 302996, updated on 27-Nov-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, Nov 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

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

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000010

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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