THAP1
Protein 1 sa THAP domenom je protein koji je kod ljudi kodiran genom THAP1. Sinonim je DYT6 (skr. od distonija 6).[5][6][7]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 213 aminokiselina, а molekulska težina 24.944 Da.[8]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MVQSCSAYGC | KNRYDKDKPV | SFHKFPLTRP | SLCKEWEAAV | RRKNFKPTKY | ||||
SSICSEHFTP | DCFKRECNNK | LLKENAVPTI | FLCTEPHDKK | EDLLEPQEQL | ||||
PPPPLPPPVS | QVDAAIGLLM | PPLQTPVNLS | VFCDHNYTVE | DTMHQRKRIH | ||||
QLEQQVEKLR | KKLKTAQQRC | RRQERQLEKL | KEVVHFQKEK | DDVSERGYVI | ||||
LPNDYFEIVE | VPA |
Funkcija
[uredi | uredi izvor]Protein kodiran ovim genom sadrži THAP-domen, konzervirani domen koji se veže za DNK. Ovaj protein kolociran je s proteinom apoptoznog odgovora PAWR/PAR-4 u jedarnim tijelima promijelocitne leukemije (PML) i funkcionira kao proapoptotski faktor koji povezuje PAWR s jedarnim tijelima PML. Primijećene su alteranivno prerađene varijante transkripta, koje kodiraju različite izoforme.[7]
Interakcije
[uredi | uredi izvor]Pokazano je da THAP1 stupa u interakciju sa PAWR.[6]
Klinički značaj
[uredi | uredi izvor]Protein 1 s domenom [THAP] i apoptozom povezan s tanatosomom (THAP1), protein je koji veže DNK, uzročnikom DYT6 distonije, nasljednim poremećajem kretanja, koji uključuje trajne, nehotične kontrakcije mišića.[9][10]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000131931 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037214 - 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.
- ^ Roussigne M, Kossida S, Lavigne AC, Clouaire T, Ecochard V, Glories A, Amalric F, Girard JP (Feb 2003). "The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase". Trends in Biochemical Sciences. 28 (2): 66–9. doi:10.1016/S0968-0004(02)00013-0. PMID 12575992.
- ^ a b Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP (Apr 2003). "THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies". Oncogene. 22 (16): 2432–42. doi:10.1038/sj.onc.1206271. PMID 12717420.
- ^ a b "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1".
- ^ "UniProt, Q9NVV9" (jezik: engleski). Pristupljeno 22. 9. 2021.
- ^ Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ (Mar 2009). "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia". Nature Genetics. 41 (3): 286–8. doi:10.1038/ng.304. PMID 19182804. S2CID 205348799.
- ^ Cem Sengel, Sophie Gavarini, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg (2011): Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. Journal of Neurochemistry. 2011 Jul 14;: 21752024
Dopunska literatura
[uredi | uredi izvor]- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP (maj 2005). "The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity". Proceedings of the National Academy of Sciences of the United States of America. 102 (19): 6907–12. doi:10.1073/pnas.0406882102. PMC 1100732. PMID 15863623.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (maj 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
Vanjski linkovi
[uredi | uredi izvor]- THAP1
- Link za Wikigenes DYT6 – torzijska distonija 6, (autosomno dominantna) [1] Arhivirano 8. 6. 2015. na Wayback Machine
- Link za Wikigenes THAP1 - apoptoza sa domenom THAP [2] Arhivirano 4. 10. 2017. na Wayback Machine