CCDC8

CCDC8
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4LG6
Identifikatori
Aliasi	CCDC8
Vanjski ID-jevi	OMIM: 614145 MGI: 3612184 HomoloGene: 49977 GeneCards: CCDC8
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	46,413,564 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	16,731,441 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• centar organizacije mikrotubula; • ćelijska membrana; • 3M complex; • citoskelet; • citoplazma; • centrosom; • jedro; • citosol;
Biološki proces	• regulation of mitotic nuclear division; • negative regulation of phosphatase activity; • microtubule cytoskeleton organization; • Posttranslacione modifikacije;
	Izvori:Amigo / QuickGO
Ortolozi
	83987
	434130
	ENSG00000169515
	ENSMUSG00000041117
	Q9H0W5
	D3YZV8
	NM_032040
	NM_001101535
	NP_114429
	NP_001095005
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 8 domena upredene zavojnice je protein koji je kod ljudi kodiran genom CCDC8.^[5]

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MLQIGEDVDY	LLIPREVRLA	GGVWRVISKP	ATKEAEFRER	LTQFLEEEGR
TLEDVARIME	KSTPHPPQPP	KKPKEPRVRR	RVQQMVTPPP	RLVVGTYDSS
NASDSEFSDF	ETSRDKSRQG	PRRGKKVRKM	PVSYLGSKFL	GSDLESEDDE
ELVEAFLRRQ	EKQPSAPPAR	RRVNLPVPMF	EDNLGPQLSK	ADRWREYVSQ
VSWGKLKRRV	KGWAPRAGPG	VGEARLASTA	VESAGVSSAP	EGTSPGDRLG
NAGDVCVPQA	SPRRWRPKIN	WASFRRRRKE	QTAPTGQGAD	IEADQGGEAA
DSQREEAIAD	QREGAAGNQR	AGAPADQGAE	AADNQREEAA	DNQRAGAPAE
EGAEAADNQR	EEAADNQRAE	APADQRSQGT	DNHREEAADN	QRAEAPADQG
SEVTDNQREE	AVHDQRERAP	AVQGADNQRA	QARAGQRAEA	AHNQRAGAPG
IQEAEVSAAQ	GTTGTAPGAR	ARKQVKTVRF	QTPGRFSWFC	KRRRAFWHTP
RLPTLPKRVP	RAGEARNLRV	LRAEARAEAE	QGEQEDQL

Funkcija

Ovaj gen kodira protein koji sadrži domen upredene zavojnice. Kodirani protein funkcionira kao kofaktor potreban za p53 posredovanu apoptozu, nakon oštećenja DNK, a također može imati ulogu u rastu i interakcijama s proteinom citoskeletnog obskurinolikog adaptera 1.

Klinički značaj

Pokazalo se da mutacije u ovom genu uzrokuju 3-M sindrom.^[6]

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl, maj 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Coiled-coil domain containing 8". Pristupljeno 30. 12. 2011.
↑ Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (juli 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

Dopunska literatura

Hanson, D.; Murray, P. G.; O'Sullivan, J.; Urquhart, J.; Daly, S.; Bhaskar, S. S.; Biesecker, L. G.; Skae, M.; Smith, C.; Cole, T.; Kirk, J.; Chandler, K.; Kingston, H.; Donnai, D.; Clayton, P. E.; Black, G. C. M. (2011). "Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth". The American Journal of Human Genetics. 89 (1): 148–153. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
Lokacija ljudskog genoma CCDC8 i stranica sa detaljima o genu CCDC8 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Coiled-coil domain containing 8". Pristupljeno 30. 12. 2011.

[pmid21737058-6] Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (juli 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

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