CCDC40

CCDC40 je gen koji kod ljudi kodira domen upredene zavojnice sa proteinom 40.

CCDC40
Identifikatori
Aliasi	CCDC40
Vanjski ID-jevi	OMIM: 613799 MGI: 2443893 HomoloGene: 27890 GeneCards: CCDC40
Lokacija gena (čovjek) Hrom. Hromosom 17 (čovjek) Bend 17q25.3 Početak 80,036,632 bp Kraj 80,100,613 bp
Lokacija gena (miš) Hrom. Hromosom 11 (miš) Bend 11|11 E2 Početak 119,119,398 bp Kraj 119,156,064 bp
Ontologija gena Molekularna funkcija • molekularna funkcija Ćelijska komponenta • citoplazma • GO:0035085 Aksonema • projekcija ćelije • Treplja • motile cilium • extracellular region Biološki proces • heart looping • flagellated sperm motility • determination of digestive tract left/right asymmetry • epithelial cilium movement involved in extracellular fluid movement • determination of pancreatic left/right asymmetry • cilium movement • determination of liver left/right asymmetry • regulation of cilium beat frequency • motile cilium assembly • axonemal dynein complex assembly • lung development • inner dynein arm assembly • epithelial cilium movement involved in determination of left/right asymmetry • axoneme assembly • protein localization to cilium • cilium assembly Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	55036	207607
Ensembl	ENSG00000141519	ENSMUSG00000039963
UniProt	Q4G0X9	Q8BI79
RefSeq (mRNK)	NM_001243342 NM_017950 NM_001330508	NM_175430 NM_001364767
RefSeq (bjelančevina)	NP_001230271 NP_001317437 NP_060420	NP_780639 NP_001351696
Lokacija (UCSC)	Chr 17: 80.04 – 80.1 Mb	Chr 11: 119.12 – 119.16 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Dužina polipeptidnog lanca je 1.142 aminokiseline, sa molekulskom težinom od 130.113.

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
MAEPGGAAGR		SHPEDGSASE		GEKEGNNESH		MVSPPEKDDG		QKGEEAVGST
EHPEEVTTQA		EAAIEEGEVE		TEGEAAVEGE		EEAVSYGDAE		SEEEYYYTET
SSPEGQISAA		DTTYPYFSPP		QELPGEEAYD		SVSGEAGLQG		FQQEATGPPE
SRERRVTSPE		PSHGVLGPSE		QMGQVTSGPA		VGRLTGSTEE		PQGQVLPMGV
QHRFRLSHGS		DIESSDLEEF		VSQEPVIPPG		VPDAHPREGD		LPVFQDQIQQ
PSTEEGAMAE		RVESEGSDEE		AEDEGSQLVV		LDPDHPLMVR		FQAALKNYLN
RQIEKLKLDL		QELVVATKQS		RAQRQELGVN		LYEVQQHLVH		LQKLLEKSHD
RHAMASSERR		QKEEELQAAR		ALYTKTCAAA		NEERKKLAAL		QTEMENLALH
LFYMQNIDQD		MRDDIRVMTQ		VVKKAETERI		RAEIEKKKQD		LYVDQLTTRA
QQLEEDIALF		EAQYLAQAED		TRILRKAVSE		ACTEIDAISV		EKRRIMQQWA
SSLVGMKHRD		EAHRAVLEAL		RGCQHQAKST		DGEIEAYKKS		IMKEEEKNEK
LASILNRTET		EATLLQKLTT		QCLTKQVALQ		SQFNTYRLTL		QDTEDALSQD
QLEQMILTEE		LQAIRQAIQG		ELELRRKTDA		AIREKLQEHM		TSNKTTKYFN
QLILRLQKEK		TNMMTHLSKI		NGDIAQTTLD		ITHTSSRLDA		HQKTLVELDQ
DVKKVNELIT		NSQSEISRRT		ILIERKQGLI		NFLNKQLERM		VSELGGEEVG
PLELEIKRLS		KLIDEHDGKA		VQAQVTWLRL		QQEMVKVTQE		QEEQLASLDA
SKKELHIMEQ		KKLRVESKIE		QEKKEQKEIE		HHMKDLDNDL		KKLNMLMNKN
RCSSEELEQN		NRVTENEFVR		SLKASERETI		KMQDKLNQLS		EEKATLLNQL
VEAEHQIMLW		EKKIQLAKEM		RSSVDSEIGQ		TEIRAMKGEI		HRMKVRLGQL
LKQQEKMIRA		MELAVARRET		VTTQAEGQRK		MDRKALTRTD		FHHKQLELRR
KIRDVRKATD		ECTKTVLELE		ETQRNVSSSL		LEKQEKLSVI		QADFDTLEAD
LTRLGALKRQ		NLSEIVALQT		RLKHLQAVKE		GRYVFLFRSK		QSLVLERQRL
DKRLALIATI		LDRVRDEYPQ		FQEALHKVSQ		MIANKLESPG		PS

Funkcija

Ovaj gen kodira protein koji je neophodan za funkciju kretanja cilija. Funkcionira u pravilnom formiranju osi lijevo-desno, regulirajući sklop unutrašnjeg dineinskog kraka i regulatorne komplekse dineina, koji kontroliraju pokrete cilijskih zamahivanja. Mutacije u ovom genu uzrokuju cilijsku diskineziju tip 15, poremećaj uslijed nedostataka pokretljivosti cilija. Akternatuivna prerada rezultira u više varijanti transkripta (prema RefSeq)

Dopunska literatura

• Wang J, Lin J, Chang Y, Li P, Yang Y (august 2010). "MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis". Journal of Huazhong University of Science and Technology. 30 (4): 425–9. doi:10.1007/s11596-010-0443-3. PMID 20714864. S2CID 195683753.
• Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW (1993). "Primary Ciliary Dyskinesia". PMID 20301301.
• Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S (juni 2012). "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical Genetics. 49 (6): 410–6. doi:10.1136/jmedgenet-2012-100867. PMID 22693285. S2CID 54524650.
• Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD (januar 2011). "The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation". Nature Genetics. 43 (1): 79–84. doi:10.1038/ng.727. PMC 3132183. PMID 21131974.

nce

Vanjski linkovi

• Lokacija ljudskog genoma CCDC40 i stranica sa detaljima o genu CCDC40 u UCSC Genome Browseru.