S Wikipedije, slobodne enciklopedije
Član 3E/3F domenske porodice TBC1 je protein koji je kod ljudi kodiran genom TBC1D3F .[3] [4]
Ovaj gen kodira protein koji je sličan porodici TBC1 domena, član 3. Protein sadrži TBC (Tre-2, Bub2p i Cdc16p) domen , koji se nalazi u proteinima uključenim u signalizaciju RAB GTPaza i promet vezikula . Postoje dvije kopije ovog gena, unutar skupa hemokinskih gena na hromosomu 17q ; ovaj zapis predstavlja kopiju više centromera .[4]
Analizom genomske sekvence, Hodzic et al. (2006) identificirali su osam paraloga gena TBC1D3 na hromosomu 17, uključujući TBC1D3F, koji su nazvali paralog E. Svi paralozi TBC1D3 kodiraju izvedeni protein s 549 aminokiselina , ali promjene pogreške na šest ostataka među paralozima rezultiraju u pet različitih izoformi TBC1D3. Geni TBC1D3F i TBC1D3E kodiraju identične proteine. Čini se da se paralozi TBC1D3 u ljudskim tkivima različito eksrimiraju.[5]
Dužina polipeptidnog lanca je 549 aminokiselina , a molekulska težina 62.185.[6]
Aminokiselinska sekvenca
Simboli
10 20 30 40 50 MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM KLKNPGRYQI MKEKGKRSSE HIQRIDRDVS GTLRKHIFFR DRYGTKQREL LHILLAYEEY NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKKGDVPPP AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL ESSQFPPGF
^ a b c GRCh38: Ensembl release 89: ENSG00000275954 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X, Stahl PD (Nov 2006). "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12" . Genomics . 88 (6): 731–6. doi :10.1016/j.ygeno.2006.05.009 PMID 16863688 . ^ a b "Entrez Gene: TBC1D3 TBC1 domain family, member 3" .^ Hodzic, D., Kong, C., Wainszelbaum, M. J., Charron, A. J., Su, X., Stahl, P. D. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Genomics 88: 731-736, 2006. PubMed : 16863688
^ "UniProt, A6NER0" . Pristupljeno 12. 6. 2021 .
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