SH3TC2
| SH3TC2 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | SH3TC2 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 608206 MGI: 2444417 HomoloGene: 11596 GeneCards: SH3TC2 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
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| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 5: 148.92 – 149.06 Mb | Chr 18: 62.09 – 62.16 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Protein 2 SH3 domena i tetratrikopeptidnih ponavljanja je protein koji je kod ljudi kodiran genom SH3TC2 sa hromosoma 5.[5][6] Vjeruje se da je eksprimiranu Schwannovim ćelijama koje čine mijelinski omotač oko živaca.
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 1.288 aminokiselina, a molekulska težina 144.777 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MGGCFCIPRE | RSLTRGPGKE | TPSKDPTVSS | ECIASSEYKE | KCFLPQNINP | ||||
| DLTLSFCVKS | RSRRCVNGPL | QEAARRRLWA | LENEDQEVRM | LFKDLSARLV | ||||
| SIQSQRAQFL | ITFKTMEEIW | KFSTYLNLGY | VSMCLEHLLF | DHKYWLNCIL | ||||
| VEDTEIQVSV | DDKHLETIYL | GLLIQEGHFF | CRALCSVTPP | AEKEGECLTL | ||||
| CKNELISVKM | AEAGSELEGV | SLVTGQRGLV | LVSALEPLPL | PFHQWFLKNY | ||||
| PGSCGLSRKR | DWTGSYQIGR | GRCKALTGYE | PGEKDELNFY | QGESIEIIGF | ||||
| VIPGLQWFIG | KSTSSGQVGF | VPTRNIDPDS | YSPMSRNSAF | LSDEERCSLL | ||||
| ALGSDKQTEC | SSFLHTLART | DITSVYRLSG | FESIQNPPND | LSASQPEGFK | ||||
| EVRPGRAWEE | HQAVGSRQSS | SSEDSSLEEE | LLSATSDSYR | LPEPDDLDDP | ||||
| ELLMDLSTGQ | EEEAENFAPI | LAFLDHEGYA | DHFKSLYDFS | FSFLTSSFYS | ||||
| FSEEDEFVAY | LEASRKWAKK | SHMTWAHARL | CFLLGRLSIR | KVKLSQARVY | ||||
| FEEAIHILNG | AFEDLSLVAT | LYINLAAIYL | KQRLRHKGSA | LLEKAGALLA | ||||
| CLPDRESSAK | HELDVVAYVL | RQGIVVGSSP | LEARACFLAI | RLLLSLGRHE | ||||
| EVLPFAERLQ | LLSGHPPASE | AVASVLSFLY | DKKYLPHLAV | ASVQQHGIQS | ||||
| AQGMSLPIWQ | VHLVLQNTTK | LLGFPSPGWG | EVSALACPML | RQALAACEEL | ||||
| ADRSTQRALC | LILSKVYLEH | RSPDGAIHYL | SQALVLGQLL | GEQESFESSL | ||||
| CLAWAYLLAS | QAKKALDVLE | PLLCSLKETE | SLTQRGVIYN | LLGLALQGEG | ||||
| RVNRAAKSYL | RALNRAQEVG | DVHNQAVAMA | NLGHLSLKSW | AQHPARNYLL | ||||
| QAVRLYCELQ | ASKETDMELV | QVFLWLAQVL | VSGHQLTHGL | LCYEMALLFG | ||||
| LRHRHLKSQL | QATKSLCHFY | SSVSPNPEAC | ITYHEHWLAL | AQQLRDREME | ||||
| GRLLESLGQL | YRNLNTARSL | RRSLTCIKES | LRIFIDLGET | DKAAEAWLGA | ||||
| GRLHYLMQED | ELVELCLQAA | IQTALKSEEP | LLALKLYEEA | GDVFFNGTRH | ||||
| RHHAVEYYRA | GAVPLARRLK | AVRTELRIFN | KLTELQISLE | GYEKALEFAT | ||||
| LAARLSTVTG | DQRQELVAFH | RLATVYYSLH | MYEMAEDCYL | KTLSLCPPWL | ||||
| QSPKEALYYA | KVYYRLGRLT | FCQLKDAHDA | TEYFLLALAA | AVLLGDEELQ | ||||
| DTIRSRLDNI | CQSPLWHSRP | SGCSSERARW | LSGGGLAL |
Funkcija
[uredi | uredi izvor]Ovaj gen kodira protein s dva N-terminala Src homologije 3 (SH3) domena i 10 ponavljanja tetratrikopeptida (TPR), te je član male porodice gena. Predloženo je da je genski proizvod adapter ili molekula za sidrenje.[6]
Veruje se da je mišja verzija (ortolog) SH3TC2 eksprimirana u Schwannovim ćelijama. Označeni protein nalazi se na plazmamembrani i u perijedarnom odjeljku za recikliranje endocita. Miševi kojima nedostaje Sh3tc2 imaju abnormalnu organizaciju Ranvijerove čvorove u skladu s idejom da bi protein mogao imati ulogu u mijelinizaciji ili u interakcijama akson – glijine ćelije.[8][9]
Klinički značaj
[uredi | uredi izvor]Mutacije u ovom genu rezultiraju autosomno recesivnom Charcot-Marie-Toothova bolešću tipa 4C, neurodegenerativnom bolešću u djetinjstvu koju karakterizira demijelinizacija motornih i senzornih neurona.[6]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000169247 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045629 - 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.
- ^ Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K (Oct 2003). "Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy". Am J Hum Genet. 73 (5): 1106–19. doi:10.1086/379525. PMC 1180490. PMID 14574644.
- ^ a b c "Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2".
- ^ "UniProt, Q8TF17" (jezik: engleski). Pristupljeno 20. 10. 2021.
- ^ Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (april 2010). "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy". N. Engl. J. Med. 362 (13): 1181–91. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
- ^ Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R (oktobar 2009). "SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system". Proc. Natl. Acad. Sci. U.S.A. 106 (41): 17528–33. Bibcode:2009PNAS..10617528A. doi:10.1073/pnas.0905523106. PMC 2765159. PMID 19805030.
Dopunsk literatura
[uredi | uredi izvor]- LeGuern E, Guilbot A, Kessali M, et al. (1997). "Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33". Hum. Mol. Genet. 5 (10): 1685–8. doi:10.1093/hmg/5.10.1685. PMID 8894708.
- Hiroi T, Hayashi-Kobayashi N, Nagumo S, et al. (2002). "Identification and characterization of the human serotonin-4 receptor gene promoter". Biochem. Biophys. Res. Commun. 289 (2): 337–44. doi:10.1006/bbrc.2001.5979. PMID 11716477.
- Kikuno R, Nagase T, Waki M, Ohara O (2002). "HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project". Nucleic Acids Res. 30 (1): 166–8. doi:10.1093/nar/30.1.166. PMC 99081. PMID 11752282.
- Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
- 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.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
- Gooding R, Colomer J, King R, et al. (2006). "A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes". J. Med. Genet. 42 (12): e69. doi:10.1136/jmg.2005.034132. PMC 1735969. PMID 16326826.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Claramunt R, Sevilla T, Lupo V, et al. (2007). "The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4". Clin. Genet. 71 (4): 343–9. doi:10.1111/j.1399-0004.2007.00774.x. PMID 17470135. S2CID 20683529.