Format

Send to:

Choose Destination
    • Showing Current items.

    CCDC39 coiled-coil domain containing 39 [ Homo sapiens (human) ]

    Gene ID: 339829, updated on 11-Jun-2019

    Summary

    Official Symbol
    CCDC39provided by HGNC
    Official Full Name
    coiled-coil domain containing 39provided by HGNC
    Primary source
    HGNC:HGNC:25244
    See related
    Ensembl:ENSG00000284862 MIM:613798
    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
    FAP59; CILD14
    Summary
    The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
    Expression
    Broad expression in testis (RPKM 5.3), lymph node (RPKM 2.5) and 23 other tissues See more
    Orthologs

    Genomic context

    See CCDC39 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (180614008..180679495, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180331360..180397300, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2053 Neighboring gene uncharacterized LOC101928856 Neighboring gene RNA, U6 small nuclear 486, pseudogene Neighboring gene tetratricopeptide repeat domain 14 Neighboring gene uncharacterized LOC101928882 Neighboring gene VISTA enhancer hs258 Neighboring gene RNA, 7SL, cytoplasmic 229, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434A128

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
     
    cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium-dependent cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium-dependent cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of digestive tract left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of liver left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of pancreatic left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial cilium movement involved in determination of left/right asymmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    epithelial cilium movement involved in determination of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
     
    flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart looping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 39

    NCBI Reference Sequences (RefSeq)

    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_029581.1 RefSeqGene

      Range
      5007..70488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_181426.2NP_852091.1  coiled-coil domain-containing protein 39

      See identical proteins and their annotated locations for NP_852091.1

      Status: VALIDATED

      Source sequence(s)
      AL122120, BG205877, DC399927
      Consensus CDS
      CCDS46964.1
      UniProtKB/Swiss-Prot
      Q9UFE4
      Related
      ENSP00000417960.2, ENST00000476379.6
      Conserved Domains (1) summary
      COG1196
      Location:22848
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      180614008..180679495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center