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FLASH GENE

Symbol

CCDC6

contributors: mct - updated : 12-11-2010

HGNC name	coiled-coil domain containing 6
HGNC id	18782

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PTC1 PTC1 chimeric oncogene
Location	10q21.2      Physical location : 61.548.521 - 61.666.818
Synonym name	DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1)
	papillary thyroid carcinoma-encoded protein
	H4 protein
Synonym symbol(s)	D10S170, H4, TST1

DNA

TYPE	functioning gene
STRUCTURE	118.31 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005436 9 - - NP_005427 65 474 - 1994 8058316

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel         Digestive intestine large intestine colon     Endocrine thyroid         Reproductive female system uterus cervix     Respiratory respiratory tract larynx       Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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