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coiled-coil domain-containing protein 6; papillary thyroid carcinoma-encoded protein; protein H4 (CCDC6, D10S170, TST1)
Structure:
- mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation
Compartment:
- cytoplasm. cytoplasm, cytoskeleton (probable)
Expression:
- ubiquitously expressed
Pathology:
- defects in CCDC6 are a cause of thyroid papillary carcinoma
- chromosomal inversion inv(10)(q11.2;q21) involving CCDC6 & generation of the RET/CCDC6 (PTC1) oncogene is found in thyroid papillary carcinomas
General
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 474 aa
MW = 53 kD
COMPARTMENT: cytoplasm
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
serine-rich region {17-20}
MOTIF: serine residue (SEVERAL)
glycine-rich region {32-44}
Ser phosphorylation site {S52}
coiled coil {53-237}
MOTIF: breakpoint {101-102}
5 X 29 AA tandem repeats {106-235}
consensus repeat {106-134}
Ser phosphorylation site {S113}
Thr phosphorylation site {T115}
consensus repeat {135-163}
consensus repeat {164-192}
consensus repeat {193-206}
consensus repeat {207-235}
Ser phosphorylation site {S240}
Ser phosphorylation site {S244}
Ser phosphorylation site {S249}
coiled coil {253-332}
MOTIF: Ser phosphorylation site {S254}
Ser phosphorylation site {S323}
Ser phosphorylation site {S325}
Ser phosphorylation site {S328}
Thr phosphorylation site {T349}
Ser phosphorylation site {S351}
Ser phosphorylation site {S352}
Tyr phosphorylation site {Y356}
Ser phosphorylation site {S363}
Ser phosphorylation site {S367}
Ser phosphorylation site {S371}
Tyr phosphorylation site {Y372}
Thr phosphorylation site {T376}
Ser phosphorylation site {S419}
proline-rich region
SITE: 440-448
MOTIF: proline residue (SEVERAL)
SH3-binding site
NAME: SH3-binding site
SITE: 442-451
Database Correlations
OMIM correlations
UniProt Q16204
Pfam PF09755
Entrez Gene 8030
Kegg hsa:8030
References
- UniProt :accession Q16204
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/H4ID280.html