SZT2
šablon na Wikimediji
Homolog praga napada 2 jest protein koji je kod ljudi kodiran genom SZT2 sa hromosoma 1.[5]
Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 3.432 aminokiseline, a molekulska težina 378.029 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MASERPEPEV | EEAGQVFLLM | KKDYRISRNV | RLAWFLSHLH | QTVQATPQEM | ||||
| LLQSEQELEV | LSVLPPGWQP | DEPVVPRPFL | LVPSTRVTFL | AWQYRFVIEL | ||||
| DLSPSTGIVD | DSTGEILFDE | VFHALSRCLG | GLLRPFRVPG | SCIDFQPEIY | ||||
| VTIQAYSSII | GLQSHQVLVQ | GCLLDPSQRE | VFLQQIYEQL | CLFEDKVATM | ||||
| LQQQYDPQSQ | AEDQSPDSGD | LLGRKVGVSM | VTADLGLVSM | IRQGILALQL | ||||
| LPSNSSAGII | VITDGVTSVP | DVAVCETLLN | QLRSGTVACS | FVQVGGVYSY | ||||
| DCSFGHVPNV | ELMKFIAMAT | FGSYLSTCPE | PEPGNLGLTV | YHRAFLLYSF | ||||
| LRSGEALNPE | YYCGSQHRLF | NEHLVSASSN | PALALRRKKH | TEKEVPADLV | ||||
| STVSVRLREG | YSVREVTLAK | GGSQLEVKLV | LLWKHNMRIE | YVAMAPWPLE | ||||
| PEGPRVTRVE | VTMEGGYDIL | HDVSCALRQP | IRSLYRTHVI | RRFWNTLQSI | ||||
| NQTDQMLAHL | QSFSSVPEHF | TLPDSTKSGV | PLFYIPPGST | TPVLSLQPSG | ||||
| SDSSHAQFAA | YWKPVLSMDA | NSWQRWLHMH | RLVLILEHDT | PIPKHLHTPG | ||||
| SNGRYSTIQC | RISHSSLTSL | LRDWSSFVLV | EGYSYVKLLS | SAPDQPPNSF | ||||
| YMVRIISKAP | CMVLRLGFPI | GTPAPARHKI | VSGLREEILR | LRFPHRVQSK | ||||
| EPTPKVKRKG | LGGAGGGSSP | SKSPPVLGPQ | QALSDRPCLV | VLHKPLDKLL | ||||
| IRYEKLPLDY | RAPFLLTLEP | PGPLPLVSGR | SASSSLASLS | RYLYHQRWLW | ||||
| SVPSGLAPAL | PLSAIAQLLS | ILTEVRLSEG | FHFACSGEGI | INMVLELPIQ | ||||
| NEPPGQAAAE | EKHTCVVQYI | LFPPHSTSTK | DSFSTDDDND | VEVEALEGDS | ||||
| ELNLVTEVWV | EPQYGRVGPG | PGIWKHLQDL | TYSEIPQALH | PRDAACIGSM | ||||
| LSFEYLIQLC | QSKEWGPLPP | EPRVSDGLDQ | GGDTCVHEIP | FHFDLMGLLP | ||||
| QCQQLQMFFL | LLAREPEGVP | FAEGSCPAND | MVLCLLHSCL | GQELSDREIP | ||||
| LTPVDQAAFL | SEVLRRTCHV | PGAEGPLLGV | HGIPKEQAVG | STQATGDSAF | ||||
| TSLSVGLPET | LKPLISAQPP | QWRCYARLVN | PQHVFLTFLP | ATFSDVQRLA | ||||
| ACGLEGPPQE | ETKPKFGDWS | GAPSLKDLGG | TGIKATKSHV | PVLSVTLASD | ||||
| NAQNQGELSP | PFRRDLQAYA | GRQASQTESA | DGPRTRCPVY | IYSCSLEALR | ||||
| EQMVGMQPPQ | APRDLIFRTQ | FLDHPSPSSA | WMEPRYKEAA | NHCALLQEHA | ||||
| QRCYVRGLFR | SLQQAQSVTS | QDLLTAVDAC | EELLQEIDIT | PFLLALCGHT | ||||
| WGLPHAPPSP | GPLSPGPFSS | SMEEGAEPRE | RAILASESSI | ETEDLSEPEF | ||||
| QSTRVPGIPD | PGPEISLTDV | CQLRGEAHGA | LHSVIQEKFL | EISRLHFRTV | ||||
| PSNPHYFFYC | PPSSRREDEG | PRDTVDRKIS | DLEFSEAELM | GEEGDTSACC | ||||
| VVTESDPELE | VEYRESRESD | LGPAGLDSAS | LSDVDTVNPD | EDSFSILGGD | ||||
| SPTGPESFLH | DLPPLFLHLT | CSVRLRGQHS | SVPVCSLPTC | LGQVLSSLEG | ||||
| PPVGGRVPLR | DLSVTLDVFM | LTLPLEVELP | TASDPQHHRS | TSESSASFPR | ||||
| SPGQPSSLRS | DDGLGPPLPP | PEEERHPGLS | NLATPHRLAI | ETTMNEIRWL | ||||
| LEDEMVGALR | RGGIPQSPAL | HRAAAHIHSS | PGRSTCLRQT | LPLSFVFGPE | ||||
| RSLTQFKEEF | RRLHLPGHVL | LEDPDSGFFF | VAAGQQPGGS | HGEPSSAAWA | ||||
| WHSHEDRAEG | IEGETLTASP | QAPGSPEDSE | GVPLISLPRV | PQGGSQPGPS | ||||
| RGLSLMSSQG | SVDSDHLGYD | GGSSGSDSEG | PNDTLGEKAP | FTLRTPPGPA | ||||
| PPQPSLSGLP | GPCLPDFWLI | VRVLQDRVEV | YAHARSLIRE | DGGPGTECRH | ||||
| LQQLLVRRVG | EICREVNQRL | LLQDLHDSHV | CNSLLVAESE | EDLWRSETPF | ||||
| HSRQRAPLPS | DDYAADESCA | PRGYLAATMQ | FVPGHFSCDV | VWGTVIRVHS | ||||
| RLKMGPSMGV | SRAIQALRSV | LNAFSVVNRK | NMFVYQERAT | KAVYYLRLLE | ||||
| TSCSDRPWKG | DALPPSLALS | RSQEPIYSEE | ASGPRSPLDM | VSSRSSDAAR | ||||
| PVGQVDRHIQ | LLVHGVGQAG | PEITDELVRV | LCRRLDEATL | DVITVMLVRN | ||||
| CKLTPADVEF | IQPPGSLPSE | VLHLALPTSC | RPWLPALAWY | LRQNLLIFLH | ||||
| SPKYTDSNSR | NHFQHPLPPQ | GGLPDLDIYL | YNKPGGQGTG | GKGVACITLA | ||||
| FVDEGGAPLS | LALWPPSSPG | PPDPLREEEF | EQLTQVIRCP | VVVDSSSAQN | ||||
| GAPRLRLDVW | EKGNISIVQL | EEKLRGAARQ | ALADAIIELQ | LLPASLCTED | ||||
| TPTGSLRNGS | LETKSSAGRA | STFPPAPVPG | EPVTPPSKAG | RRSFWDMLSK | ||||
| TECGDLGSPK | TTDDIVLDRP | EDTRGRRRHK | TESVRTPGGA | ERAPGSDSGA | ||||
| QRQKRRTTQL | EEGEVGTLHP | VFARVAQRWM | EFMVQIGCAS | VSRSSAHMVS | ||||
| RFLLPSILSE | FTALVTSMAG | DTSVRIFEQH | LGSEPEIFGP | CSPGQLGPSP | ||||
| RPAAERHLLL | LGRNFLQWRR | PTQQAAKAMQ | RFEPGGDGSS | GRNAPRQRLL | ||||
| LLEVVDKKLQ | LLTYNWAPDL | GAALGRALVR | LVQWQNARAH | LIFCLLSQKL | ||||
| GLFHHYGQLD | FPVRDEKEPN | PFLLPTMEVE | TLIRSASPPL | SREQGRLSGS | ||||
| SRGGGPLPLD | TFPFDEALRD | ITAARPSSVL | GPVPRPPDPV | TYHGQQFLEI | ||||
| KMAERRELER | QMKMENLFVT | WQQRSTPATM | PISAGELETL | KQSSRLVHYC | ||||
| ATAMLFDPAA | WLHGPPETSG | PPDGQRRHRP | ESGSGSREAP | TSCESLDVSP | ||||
| PGAREEPWLK | ELSLAFLQQY | VQYLQSIGFV | LVPLRPPSPA | RSTSRPRAMA | ||||
| ILGTEGRGSF | SCPKTKTDGS | PKSTSSPVTT | YHLQRALPGG | IILMELAFQG | ||||
| CYFCVKQFAL | ECSRIPMGQA | VNSQLSMLFT | EECDKVRDLM | HVHSFSYDFH | ||||
| LRLVHQHVLG | AHLVLRHGYH | LTTFLRHFLA | HHPDGPHFGR | NHIYQGTLEL | ||||
| PTPLIAAHQL | YNYVADHASS | YHMKPLRMAR | PGGPEHNEYA | LVSAWHSSGS | ||||
| YLDSEGLRHQ | DDFDVSLLVC | HCAAPFEEQG | EAERHVLRLQ | FFVVLTSQRE | ||||
| LFPRLTADMR | RFRKPPRLPP | EPEAPGSSAG | SPGEASGLIL | APGPAPLFPP | ||||
| LAAEVGMARA | RLAQLVRLAG | GHCRRDTLWK | RLFLLEPPGP | DRLRLGGRLA | ||||
| LAELEELLEA | VHAKSIGDID | PQLDCFLSMT | VSWYQSLIKV | LLSRFPQSCR | ||||
| HFQSPDLGTQ | YLVVLNQKFT | DCFVLVFLDS | HLGKTSLTVV | FREPFPVQPQ | ||||
| DSESPPAQLV | STYHHLESVI | NTACFTLWTR | LL |
Funkcija uredi
Protein koji je kodiran ovim genom eksprimiran je u mozgu, pretežno u tjemenom i čeonom korteksu, kao i u ganglijama dorzalnog korijena. Lokaliziran je na peroksisomima i uključen je u otpornost na oksidativni stres. Vjerovatno funkcionira povećanjem aktivnosti superoksid-dismutaze (SOD), ali sam po sebi nema direktnu aktivnost SOD. Studije na miševima pokazuju da ovaj gen daje nizak prag napada, a također može poboljšati epileptogenezu.[5]
Klinički značaj uredi
Pokazalo se da mutacije ovog gena uzrokuju encefalopatiju novorođenčadi sa epilepsijom i dismorfnim žuljevitim tijelom.[7]
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198198 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033253 - 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.
- ^ a b "Entrez Gene: Seizure threshold 2 homolog (mouse)".
- ^ "UniProt, Q5T011" (jezik: eng.). Pristupljeno 5. 12. 2021.CS1 održavanje: nepoznati jezik (link)
- ^ Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G (Sep 2013). "Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum". American Journal of Human Genetics. 93 (3): 524–9. doi:10.1016/j.ajhg.2013.07.005. PMC 3769928. PMID 23932106.
Dopunska literatura uredi
- Xie H, Diber A, Pollock S, Nemzer S, Safer H, Meloon B, Olson A, Hwang JJ, Endress GA, Savitsky K, Gill-More R (Apr 2004). "Bridging expressed sequence alignments through targeted cDNA sequencing". Genomics. 83 (4): 572–6. doi:10.1016/j.ygeno.2003.07.003. PMID 15028280.
- Chen L, Madura K (Jun 2006). "Evidence for distinct functions for human DNA repair factors hHR23A and hHR23B". FEBS Letters. 580 (14): 3401–8. doi:10.1016/j.febslet.2006.05.012. PMID 16712842.
- Seki N, Ohira M, Nagase T, Ishikawa K, Miyajima N, Nakajima D, Nomura N, Ohara O (Oct 1997). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Research. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.