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

Gene ID: 339829, updated on 23-Nov-2021

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; CFAP59; 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
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Genomic context

See CCDC39 in Genome Data Viewer
Location:
3q26.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (180614008..180679489, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180331796..180397277, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2053 Neighboring gene TTC14 divergent transcript 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 Functions

What'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
involved_in axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebrospinal fluid circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium-dependent cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in determination of digestive tract left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in determination of liver left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in determination of pancreatic left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial cilium movement involved in determination of left/right asymmetry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of left/right asymmetry IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
 
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to cilium IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium beat frequency IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in 9+2 motile cilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 39

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.

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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    180614008..180679489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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