CCDC40
CCDC40 je gen koji kod ljudi kodira domen upredene zavojnice sa proteinom 40.[5]
Dužina polipeptidnog lanca je 1.142 aminokiseline, sa molekulskom težinom od 130.113.[6]
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 uredi
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)
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141519 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039963 - 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 40".
- ^ "UniProt, Q4G0X9". Pristupljeno 12. 9. 2017.
Dopunska literatura uredi
- 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. journal zahtijeva
|journal=(pomoć) - 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 uredi
- Lokacija ljudskog genoma CCDC40 i stranica sa detaljima o genu CCDC40 u UCSC Genome Browseru.