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    CCDC78 coiled-coil domain containing 78 [ Homo sapiens (human) ]

    Gene ID: 124093, updated on 15-Jun-2016
    Official Symbol
    CCDC78provided by HGNC
    Official Full Name
    coiled-coil domain containing 78provided by HGNC
    Primary source
    HGNC:HGNC:14153
    See related
    Ensembl:ENSG00000162004 HPRD:08174; MIM:614666; Vega:OTTHUMG00000121176
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNM4; JFP10; C16orf25; hsCCDC78
    Summary
    The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
    Orthologs
    Location:
    16p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (722578..726880, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (772582..776880, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene F-box and leucine rich repeat protein 16 Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene family with sequence similarity 173 member A Neighboring gene hydroxyacylglutathione hydrolase-like Neighboring gene nuclear prelamin A recognition factor like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Homology

    Clone Names

    • FLJ34512

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    de novo centriole assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    deuterosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    coiled-coil domain-containing protein 78

    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.

    Genomic

    1. NG_032932.1 RefSeqGene

      Range
      5001..8892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031737.2NP_001026907.2  coiled-coil domain-containing protein 78

      See identical proteins and their annotated locations for NP_001026907.2

      Status: VALIDATED

      Source sequence(s)
      BC042110, DC341680, Z98258
      Consensus CDS
      CCDS32353.1
      UniProtKB/Swiss-Prot
      A2IDD5
      Related
      ENSP00000293889, OTTHUMP00000149990, ENST00000293889, OTTHUMT00000241665
      Conserved Domains (1) summary
      pfam14739
      Location:54166
      DUF4472; Domain of unknown function (DUF4472)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      722578..726880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022929.1XP_016878418.1  

    2. XM_011522358.2XP_011520660.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)
    3. XM_017022931.1XP_016878420.1  

    4. XM_011522363.1XP_011520665.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)
    5. XM_011522361.1XP_011520663.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)
    6. XM_017022932.1XP_016878421.1  

    7. XM_017022930.1XP_016878419.1  

      Related
      ENSP00000316851, OTTHUMP00000237752, ENST00000345165, OTTHUMT00000397838
    8. XM_011522371.2XP_011520673.1  

    9. XM_006720843.3XP_006720906.1  

      Conserved Domains (1) summary
      pfam14739
      Location:54166
      DUF4472; Domain of unknown function (DUF4472)
    10. XM_011522369.1XP_011520671.1  

      Conserved Domains (1) summary
      pfam14739
      Location:54164
      DUF4472; Domain of unknown function (DUF4472)
    11. XM_011522368.1XP_011520670.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128199
      DUF4472; Domain of unknown function (DUF4472)
    12. XM_011522367.1XP_011520669.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128208
      DUF4472; Domain of unknown function (DUF4472)
    13. XM_006720838.1XP_006720901.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128240
      DUF4472; Domain of unknown function (DUF4472)
    14. XM_011522365.1XP_011520667.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128238
      DUF4472; Domain of unknown function (DUF4472)
    15. XM_011522360.1XP_011520662.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128300
      DUF4472; Domain of unknown function (DUF4472)
    16. XM_011522359.1XP_011520661.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128298
      DUF4472; Domain of unknown function (DUF4472)
    17. XM_011522357.1XP_011520659.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128311
      DUF4472; Domain of unknown function (DUF4472)
    18. XM_011522356.1XP_011520658.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)
    19. XM_011522370.1XP_011520672.1  

      Conserved Domains (1) summary
      pfam14739
      Location:5490
      DUF4472; Domain of unknown function (DUF4472)
    20. XM_011522366.1XP_011520668.1  

      Conserved Domains (1) summary
      pfam14739
      Location:54235
      DUF4472; Domain of unknown function (DUF4472)
    21. XM_011522364.1XP_011520666.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)
    22. XM_011522362.1XP_011520664.1  

      Conserved Domains (1) summary
      pfam14739
      Location:128309
      DUF4472; Domain of unknown function (DUF4472)

    RNA

    1. XR_001751838.1 RNA Sequence

    2. XR_001751839.1 RNA Sequence

      Related
      ENST00000463539
    3. XR_001751837.1 RNA Sequence

    4. XR_001751836.1 RNA Sequence

    5. XR_001751835.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      772552..776443 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173476.2: Suppressed sequence

      Description
      NM_173476.2: This RefSeq was suppressed because insufficient evidence exists for the exon combination of this transcript variant, which was based on AK128538.1.