TTC3
Tetratrikopeptidni ponavljajući protein 3 jest protein koji je kod ljudi kodiran genom TTC3 sa hromosoma 21.[5][6]
U jednom istraživanju iz 1996., identifikovali su i klonirali novu cDNK od 9,078 bp, zvanu TPRDI, iz regije kritične za Downov sindrom analizom egzona. cDNK kodira navodni protein (TPRDI) od 2.025 aminokiselinskih ostataka. Dvije izoforme, TPRDII (8.992 bp) i TPRDIII (7.416 bp), također su izolovane. TPRDII, koji je vjerovatno proizvod alternativne prerade, odnosno varijanta transkripta TPRD gena, kodira dva velika otvorena okvira čitanja (ORF) od 200, odnosno 1.792 aminokiselinskih ostataka. TPRDIII, koji je vjerovatno generiran transkripcijom sa alternativnog početnog mjesta TPRD gena, kodira navodni protein od 1.715 aminokiselinskih ostataka (TPRDIII). Northern blot analiza otkrila je da su TPRDI i njegove izoforme prisutni u embrionu miša od 7–17 dana i u svim ispitivanim tkivima odraslih ljudi i fetusa. TPRDI ima tri jedinice ponavljanja od 34 aminokiseline, slične motivu tetratrikopeptidnog ponavljanja (TPR), koji može posredovati u interakciji s različitim proteinima. Veći ORF kodiran TPRDII također ima tri jedinice TPR motiva, ali TPRDIII ima samo dvije trećine ove jedinice motiva. Dakle, TPRD gen može pripadati porodici gena TPR. Bliski centralni i C-terminalni regioni TPRD-a pokazali su određenu homologiju sa nekoliko matriksnih proteina kao što su trihohijalin i bulozni pemfigoidni antigen. Moguće je da je TPRD gen jedan od gena čija nadekspresija uzrokuje nekoliko morfoloških anomalija uočenih kod Downovog sindroma.[7]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 2.025 aminokiselina, a molekulska težina 229.869 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MDNFAEGDFT | VADYALLEDC | PHVDDCVFAA | EFMSNDYVRV | TQLYCDGVGV | ||||
| QYKDYIQSER | NLEFDICSIW | CSKPISVLQD | YCDAIKINIF | WPLLFQHQNS | ||||
| SVISRLHPCV | DANNSRASEI | NLKKLQHLEL | MEDIVDLAKK | VANDSFLIGG | ||||
| LLRIGCKIEN | KILAMEEALN | WIKYAGDVTI | LTKLGSIDNC | WPMLSIFFTE | ||||
| YKYHITKIVM | EDCNLLEELK | TQSCMDCIEE | GELMKMKGNE | EFSKERFDIA | ||||
| IIYYTRAIEY | RPENYLLYGN | RALCFLRTGQ | FRNALGDGKR | ATILKNTWPK | ||||
| GHYRYCDALS | MLGEYDWALQ | ANIKAQKLCK | NDPEGIKDLI | QQHVKLQKQI | ||||
| EDLQGRTANK | DPIKAFYENR | AYTPRSLSAP | IFTTSLNFVE | KERDFRKINH | ||||
| EMANGGNQNL | KVADEALKVD | DCDCHPEFSP | PSSQPPKHKG | KQKSRNNESE | ||||
| KFSSSSPLTL | PADLKNILEK | QFSKSSRAAH | QDFANIMKML | RSLIQDGYMA | ||||
| LLEQRCRSAA | QAFTELLNGL | DPQKIKQLNL | AMINYVLVVY | GLAISLLGIG | ||||
| QPEELSEAEN | QFKRIIEHYP | SEGLDCLAYC | GIGKVYLKKN | RFLEALNHFE | ||||
| KARTLIYRLP | GVLTWPTSNV | IIEESQPQKI | KMLLEKFVEE | CKFPPVPDAI | ||||
| CCYQKCHGYS | KIQIYITDPD | FKGFIRISCC | QYCKIEFHMN | CWKKLKTTTF | ||||
| NDKIDKDFLQ | GICLTPDCEG | VISKIIIFSS | GGEVKCEFEH | KVIKEKVPPR | ||||
| PILKQKCSSL | EKLRLKEDKK | LKRKIQKKEA | KKLAQERMEE | DLRESNPPKN | ||||
| EEQKETVDNV | QRCQFLDDRI | LQCIKQYADK | IKSGIQNTAM | LLKELLSWKV | ||||
| LSTEDYTTCF | SSRNFLNEAV | DYVIRHLIQE | NNRVKTRIFL | HVLSELKEVE | ||||
| PKLAAWIQKL | NSFGLDATGT | FFSRYGASLK | LLDFSIMTFL | WNEKYGHKLD | ||||
| SIEGKQLDYF | SEPASLKEAR | CLIWLLEEHR | DKFPALHSAL | DEFFDIMDSR | ||||
| CTVLRKQDSG | EAPFSSTKVK | NKSKKKKPKD | SKPMLVGSGT | TSVTSNNEII | ||||
| TSSEDHSNRN | SDSAGPFAVP | DHLRQDVEEF | EALYDQHSNE | YVVRNKKLWD | ||||
| MNPKQKCSTL | YDYFSQFLEE | HGPLDMSNKM | FSAEYEFFPE | ETRQILEKAG | ||||
| GLKPFLLGCP | RFVVIDNCIA | LKKVASRLKK | KRKKKNIKTK | VEEISKAGEY | ||||
| VRVKLQLNPA | AREFKPDVKS | KPVSDSSSAP | AFENVKPKPV | SANSPKPACE | ||||
| DVKAKPVSDN | SSRQVSEDGQ | PKGVSSNSPK | PGSEDANYKR | VSCNSPKPVL | ||||
| EDVKPTYWAQ | SHLVTGYCTY | LPFQRFDITQ | TPPAYINVLP | GLPQYTSIYT | ||||
| PLASLSPEYQ | LPRSVPVVPS | FVANDRADKN | AAAYFEGHHL | NAENVAGHQI | ||||
| ASETQILEGS | LGISVKSHCS | TGDAHTVLSE | SNRNDEHCGN | SNNKCEVIPE | ||||
| STSAVTNIPH | VQMVAIQVSW | NIIHQEVNTE | PYNPFEERQG | EISRIEKEHQ | ||||
| VLQDQLQEVY | ENYEQIKLKG | LEETRDLEEK | LKRHLEENKI | SKTELDWFLQ | ||||
| DLEREIKKWQ | QEKKEIQERL | KSLKKKIKKV | SNASEMYTQK | NDGKEKEHEL | ||||
| HLDQSLEISN | TLTNEKMKIE | EYIKKGKEDY | EESHQRAVAA | EVSVLENWKE | ||||
| SEVYKLQIME | SQAEAFLKKL | GLISRDPAAY | PDMESDIRSW | ELFLSNVTKE | ||||
| IEKAKSQFEE | QIKAIKNGSR | LSELSKVQIS | ELSFPACNTV | HPELLPESSG | ||||
| DDGQGLVTSA | SDVTGNHAAL | HRDPSVFSAG | DSPGEAPSAL | LPGPPPGQPE | ||||
| ATQLTGPKRA | GQAALSERSP | VADRKQPVPP | GRAARSSQSP | KKPFNSIIEH | ||||
| LSVVFPCYNS | TELAGFIKKV | RSKNKNSLSG | LSIDEIVQRV | TEHILDEQKK | ||||
| KKPNPGKDKR | TYEPSSATPV | TRSSQGSPSV | VVAPSPKTKG | QKAEDVPVRI | ||||
| ALGASSCEIC | HEVFKSKNVR | VLKCGHKYHK | GCFKQWLKGQ | SACPACQGRD | ||||
| LLTEESPSGR | GWPSQNQELP | SCSSR |
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000182670 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040785 - 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.
- ^ Tsukahara F, Hattori M, Muraki T, Sakaki Y (Mar 1997). "Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2". J Biochem. 120 (4): 820–7. doi:10.1093/oxfordjournals.jbchem.a021485. PMID 8947847.
- ^ a b "Entrez Gene: TTC3 tetratricopeptide repeat domain 3".
- ^ F Tsukahara 1, M Hattori, T Muraki, Y Sakaki (1996): Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. J Biochem, 120(4):820-827; pmid: 8947847; doi: 10.1093/oxfordjournals.jbchem.a021485
Dopunska literatura
uredi- Ohira M, Ootsuyama A, Suzuki E, et al. (1996). "Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21". DNA Res. 3 (1): 9–16. doi:10.1093/dnares/3.1.9. PMID 8724848.
- Eki T, Abe M, Naitou M, et al. (1997). "Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2". DNA Seq. 7 (3–4): 153–64. doi:10.3109/10425179709034031. PMID 9254009.
- Dahmane N, Ghezala GA, Gosset P, et al. (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID 9503011.
- Rachidi M, Lopes C, Gassanova S, et al. (2000). "Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development". Mech. Dev. 93 (1–2): 189–93. doi:10.1016/S0925-4773(00)00259-8. PMID 10781955. S2CID 1109717.
- Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Berto G, Camera P, Fusco C, et al. (2007). "The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase". J. Cell Sci. 120 (Pt 11): 1859–67. doi:10.1242/jcs.000703. PMID 17488780.