THAP1

THAP1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2JTG, 2KO0, 2L1G
Identifikatori
Aliasi	THAP1
Vanjski ID-jevi	OMIM: 609520 MGI: 1921004 HomoloGene: 10005 GeneCards: THAP1
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	42,843,325 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	26,654,179 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje iona metala; • sequence-specific DNA binding; • vezivanje sa DNK; • vezivanje iona cinka; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje identičnih proteina; • nucleic acid binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • protein homodimerization activity; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Ćelijska komponenta	• PML body; • intracellular membrane-bounded organelle; • jedro; • nukleoplazma; • fibrillar center;
Biološki proces	• ćelijski ciklus; • endothelial cell proliferation; • regulation of mitotic cell cycle; • transcription, DNA-templated; • GO:0009373 regulation of transcription, DNA-templated; • GO:1901227 negative regulation of transcription by RNA polymerase II;
	Izvori:Amigo / QuickGO
Ortolozi
	55145
	73754
	ENSG00000131931
	ENSMUSG00000037214
	Q9NVV9
	Q8CHW1
	NM_199003; NM_018105
	NM_199042
	NP_060575; NP_945354
	NP_950243
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

Dužina polipeptidnog lanca je 213 aminokiselina, а molekulska težina 24.944 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

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

Pokazano je da THAP1 stupa u interakciju sa PAWR.^[6]

Klinički značaj

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

^ ^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

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

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131931 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037214 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12575992-5] 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.

[pmid12717420-6] 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.

[entrez-7] "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1".

[UniProt-8] "UniProt, Q9NVV9" (jezik: engleski). Pristupljeno 22. 9. 2021.

[pmid19182804-9] 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.

[10] 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

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