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FLASH GENE
Symbol CCDC6 contributors: mct - updated : 12-11-2010
HGNC name coiled-coil domain containing 6
HGNC id 18782
DNA
TYPE functioning gene
STRUCTURE 118.31 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - - 65 474 - 1994 8058316
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel    
Digestiveintestinelarge intestinecolon  
Endocrinethyroid    
Reproductivefemale systemuteruscervix  
Respiratoryrespiratory tractlarynx   
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • extensive regions in the alpha helical conformation, homologous to the alpha-helical domains of several proteins including tropomyosin, vimentin, keratin and the tail region of myosin heavy chain
  • a putative SH3 binding site is present at the C-terminus, which suggests that CCDC6 might be a cytoskeletal protein
  • HOMOLOGY
    interspecies homolog to C.elegans T09B9.4
    Homologene
    FAMILY
  • vdp/uso1/ybl047c family
  • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text nuclear and cytosolic protein
    basic FUNCTION
  • involved in cellular response to DNA damage ATM-mediated, and the impairment of CCDC6 gene function might have a role in thyroid carcinogenesis
  • responsible for the transcriptional repression of CREB1 target genes, promoting HDAC1 activity
  • requires HDAC1 activity to repress CREB1 target gene transcription
  • may be a tumor suppressor in thyroid carcinogenesis inhibiting the CREB1-dependent gene expression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with CREB1 and represses its transcriptional activity by recruiting histone deacetylase 1 and protein phosphatase 1 proteins at the CRE site of the CREB1 target genes
  • reduces CREB1 binding to AREG promoter, and reduces the expression of the AREG gene
  • binds the AREG promoter and participates in the same DNA-bound complex that contains HDAC1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PTC1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion     protein chimeric
    fusion gene H4/RET in papillary thyroid carcinoma with inv(10)(q11.2q21)
    tumoral fusion translocation   protein chimeric
    fusion gene H4/PDGFR8 in BCR-ABL negative myeloproliferative disorders with a t(5;10)(q33;q21)
    tumoral fusion      
    intrachromosomal inversions fusing the tyrosine kinase domain of RET with CCDC6(RET/CCDC6)in papillary thyroid carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS