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

Gene ID: 381077, updated on 2-Nov-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, Nov 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

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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