THAP1_HUMAN
ID THAP1_HUMAN Reviewed; 213 AA.
AC Q9NVV9; A6NCB6; D3DSY5; H9KV49; Q53FQ1; Q6IA99;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=THAP domain-containing protein 1;
GN Name=THAP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT DYT6
RP ARG-89.
RC TISSUE=Gastric mucosa;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Adipocyte;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH PAWR.
RX PubMed=12717420; DOI=10.1038/sj.onc.1206271;
RA Roussigne M., Cayrol C., Clouaire T., Amalric F., Girard J.-P.;
RT "THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-
RT response-4 (Par-4) to PML nuclear bodies.";
RL Oncogene 22:2432-2442(2003).
RN [9]
RP DNA-BINDING, ZINC-BINDING, AND MUTAGENESIS OF CYS-5; CYS-10; PRO-26;
RP TRP-36; CYS-54; HIS-57; PHE-58 AND PRO-78.
RX PubMed=15863623; DOI=10.1073/pnas.0406882102;
RA Clouaire T., Roussigne M., Ecochard V., Mathe C., Amalric F., Girard J.-P.;
RT "The THAP domain of THAP1 is a large C2CH module with zinc-dependent
RT sequence-specific DNA-binding activity.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:6907-6912(2005).
RN [10]
RP FUNCTION, AND DNA-BINDING.
RX PubMed=17003378; DOI=10.1182/blood-2006-03-012013;
RA Cayrol C., Lacroix C., Mathe C., Ecochard V., Ceribelli M., Loreau E.,
RA Lazar V., Dessen P., Mantovani R., Aguilar L., Girard J.-P.;
RT "The THAP-zinc finger protein THAP1 regulates endothelial cell
RT proliferation through modulation of pRB/E2F cell-cycle target genes.";
RL Blood 109:584-594(2007).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY IN A THAP1/THAP3-HCFC1-OGT COMPLEX,
RP INTERACTION WITH HCFC1 AND OGT, TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=20200153; DOI=10.1074/jbc.m109.072579;
RA Mazars R., Gonzalez-de-Peredo A., Cayrol C., Lavigne A.C., Vogel J.L.,
RA Ortega N., Lacroix C., Gautier V., Huet G., Ray A., Monsarrat B.,
RA Kristie T.M., Girard J.P.;
RT "The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and
RT O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.";
RL J. Biol. Chem. 285:13364-13371(2010).
RN [12]
RP DNA-BINDING.
RX PubMed=20010837; DOI=10.1038/nsmb.1742;
RA Sabogal A., Lyubimov A.Y., Corn J.E., Berger J.M., Rio D.C.;
RT "THAP proteins target specific DNA sites through bipartite recognition of
RT adjacent major and minor grooves.";
RL Nat. Struct. Mol. Biol. 17:117-123(2010).
RN [13]
RP REVIEW ON VARIANTS.
RX PubMed=21793105; DOI=10.1002/humu.21564;
RA Blanchard A., Ea V., Roubertie A., Martin M., Coquart C., Claustres M.,
RA Beroud C., Collod-Beroud G.;
RT "DYT6 dystonia: review of the literature and creation of the UMD Locus-
RT Specific Database (LSDB) for mutations in the THAP1 gene.";
RL Hum. Mutat. 32:1213-1224(2011).
RN [14]
RP STRUCTURE BY NMR OF 1-82, AND MUTAGENESIS OF SER-4; CYS-5; SER-6; TYR-8;
RP CYS-10; LYS-11; LYS-16; LYS-24; PRO-26; LEU-27; THR-28; ARG-29; PRO-30;
RP SER-31; LEU-32; CYS-33; LYS-34; GLU-35; TRP-36; GLU-37; VAL-40; ARG-41;
RP ARG-42; LYS-43; ASN-44; PHE-45; LYS-46; PRO-47; THR-48; TYR-50; SER-51;
RP SER-52; CYS-54; SER-55; HIS-57; PHE-58 AND PRO-78.
RX PubMed=18073205; DOI=10.1074/jbc.m707537200;
RA Bessiere D., Lacroix C., Campagne S., Ecochard V., Guillet V., Mourey L.,
RA Lopez F., Czaplicki J., Demange P., Milon A., Girard J.-P., Gervais V.;
RT "Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH
RT DNA-binding module linked to Rb/E2F pathways.";
RL J. Biol. Chem. 283:4352-4363(2008).
RN [15]
RP STRUCTURE BY NMR OF 1-82 IN COMPLEX WITH DNA.
RX PubMed=20144952; DOI=10.1093/nar/gkq053;
RA Campagne S., Saurel O., Gervais V., Milon A.;
RT "Structural determinants of specific DNA-recognition by the THAP zinc
RT finger.";
RL Nucleic Acids Res. 38:3466-3476(2010).
RN [16]
RP VARIANTS DYT6 LYS-12; THR-21; PRO-29; THR-39; LEU-81 AND ARG-89.
RX PubMed=19345147; DOI=10.1016/s1474-4422(09)70081-x;
RA Bressman S.B., Raymond D., Fuchs T., Heiman G.A., Ozelius L.J.,
RA Saunders-Pullman R.;
RT "Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening
RT study.";
RL Lancet Neurol. 8:441-446(2009).
RN [17]
RP VARIANT DYT6 ARG-170.
RX PubMed=19908325; DOI=10.1002/mds.22861;
RA Bonetti M., Barzaghi C., Brancati F., Ferraris A., Bellacchio E.,
RA Giovanetti A., Ialongo T., Zorzi G., Piano C., Petracca M., Albanese A.,
RA Nardocci N., Dallapiccola B., Bentivoglio A.R., Garavaglia B.,
RA Valente E.M.;
RT "Mutation screening of the DYT6/THAP1 gene in Italy.";
RL Mov. Disord. 24:2424-2427(2009).
RN [18]
RP VARIANT DYT6 GLN-29.
RX PubMed=19908320; DOI=10.1002/mds.22849;
RA Paisan-Ruiz C., Ruiz-Martinez J., Ruibal M., Mok K.Y., Indakoetxea B.,
RA Gorostidi A., Masso J.F.;
RT "Identification of a novel THAP1 mutation at R29 amino-acid residue in
RT sporadic patients with early-onset dystonia.";
RL Mov. Disord. 24:2428-2429(2009).
RN [19]
RP VARIANT DYT6 LEU-81, AND DNA-BINDING.
RX PubMed=19182804; DOI=10.1038/ng.304;
RA Fuchs T., Gavarini S., Saunders-Pullman R., Raymond D., Ehrlich M.E.,
RA Bressman S.B., Ozelius L.J.;
RT "Mutations in the THAP1 gene are responsible for DYT6 primary torsion
RT dystonia.";
RL Nat. Genet. 41:286-288(2009).
RN [20]
RP VARIANT DYT6 THR-149.
RX PubMed=20629133; DOI=10.1002/mds.23086;
RA Van Gerpen J.A., Ledoux M.S., Wszolek Z.K.;
RT "Adult-onset leg dystonia due to a missense mutation in THAP1.";
RL Mov. Disord. 25:1306-1307(2010).
RN [21]
RP VARIANTS DYT6 ASN-57; ARG-83; CYS-137; VAL-143 AND ASN-192.
RX PubMed=20669277; DOI=10.1002/mds.23207;
RA Sohn A.S., Glockle N., Doetzer A.D., Deuschl G., Felbor U., Topka H.R.,
RA Schols L., Riess O., Bauer P., Muller U., Grundmann K.;
RT "Prevalence of THAP1 sequence variants in German patients with primary
RT dystonia.";
RL Mov. Disord. 25:1982-1986(2010).
RN [22]
RP VARIANTS DYT6 ILE-59; ASN-69 DEL AND LYS-136.
RX PubMed=20687191; DOI=10.1002/mds.23285;
RA Groen J.L., Ritz K., Contarino M.F., van de Warrenburg B.P., Aramideh M.,
RA Foncke E.M., van Hilten J.J., Schuurman P.R., Speelman J.D., Koelman J.H.,
RA de Bie R.M., Baas F., Tijssen M.A.;
RT "DYT6 dystonia: mutation screening, phenotype, and response to deep brain
RT stimulation.";
RL Mov. Disord. 25:2420-2427(2010).
RN [23]
RP VARIANTS DYT6 CYS-9; GLY-17; SER-132; THR-149; THR-166 AND LYS-187.
RX PubMed=20083799; DOI=10.1212/wnl.0b013e3181ca00ca;
RA Xiao J., Zhao Y., Bastian R.W., Perlmutter J.S., Racette B.A., Tabbal S.D.,
RA Karimi M., Paniello R.C., Wszolek Z.K., Uitti R.J., Van Gerpen J.A.,
RA Simon D.K., Tarsy D., Hedera P., Truong D.D., Frei K.P., Dev Batish S.,
RA Blitzer A., Pfeiffer R.F., Gong S., LeDoux M.S.;
RT "Novel THAP1 sequence variants in primary dystonia.";
RL Neurology 74:229-238(2010).
RN [24]
RP VARIANTS DYT6 PHE-6; CYS-8; ARG-26; SER-136 AND GLN-169.
RX PubMed=20211909; DOI=10.1212/wnl.0b013e3181d5276d;
RA Houlden H., Schneider S.A., Paudel R., Melchers A., Schwingenschuh P.,
RA Edwards M., Hardy J., Bhatia K.P.;
RT "THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.";
RL Neurology 74:846-850(2010).
RN [25]
RP VARIANTS DYT6 HIS-13; GLU-16; PRO-23; GLU-24; LEU-26 AND VAL-80, AND
RP CHARACTERIZATION OF VARIANTS DYT6 HIS-13; GLU-16; PRO-23; GLU-24; LEU-26
RP AND VAL-80.
RX PubMed=21847143; DOI=10.1038/ejhg.2011.159;
RA Lohmann K., Uflacker N., Erogullari A., Lohnau T., Winkler S.,
RA Dendorfer A., Schneider S.A., Osmanovic A., Svetel M., Ferbert A.,
RA Zittel S., Kuhn A.A., Schmidt A., Altenmuller E., Munchau A., Kamm C.,
RA Wittstock M., Kupsch A., Moro E., Volkmann J., Kostic V., Kaiser F.J.,
RA Klein C., Bruggemann N.;
RT "Identification and functional analysis of novel THAP1 mutations.";
RL Eur. J. Hum. Genet. 20:171-175(2012).
RN [26]
RP VARIANTS DYT6 ILE-75 AND PRO-150.
RX PubMed=20825472; DOI=10.1111/j.1468-1331.2010.03192.x;
RA Cheng F.B., Wan X.H., Feng J.C., Wang L., Yang Y.M., Cui L.Y.;
RT "Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in
RT China.";
RL Eur. J. Neurol. 18:497-503(2011).
RN [27]
RP VARIANTS DYT6 PHE-54; ILE-75; PRO-150 AND SER-180.
RX PubMed=21800139; DOI=10.1007/s00415-011-6196-5;
RA Cheng F.B., Ozelius L.J., Wan X.H., Feng J.C., Ma L.Y., Yang Y.M., Wang L.;
RT "THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in
RT China and their effects on RNA expression.";
RL J. Neurol. 259:342-347(2012).
RN [28]
RP VARIANT DYT6 GLY-174.
RX PubMed=21839475; DOI=10.1016/j.jns.2011.07.023;
RA Song W., Chen Y., Huang R., Chen K., Pan P., Yang Y., Shang H.F.;
RT "Novel THAP1 gene mutations in patients with primary dystonia from
RT Southwest China.";
RL J. Neurol. Sci. 309:63-67(2011).
RN [29]
RP VARIANT DYT6 HIS-32, AND CHARACTERIZATION OF VARIANT DYT6 HIS-32.
RX PubMed=21425335; DOI=10.1002/mds.23561;
RA Schneider S.A., Ramirez A., Shafiee K., Kaiser F.J., Erogullari A.,
RA Bruggemann N., Winkler S., Bahman I., Osmanovic A., Shafa M.A.,
RA Bhatia K.P., Najmabadi H., Klein C., Lohmann K.;
RT "Homozygous THAP1 mutations as cause of early-onset generalized dystonia.";
RL Mov. Disord. 26:858-861(2011).
RN [30]
RP VARIANT DYT6 ARG-30.
RX PubMed=21425341; DOI=10.1002/mds.23599;
RA Jech R., Bares M., Krepelova A., Urgosik D., Havrankova P., Ruzicka E.;
RT "DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.";
RL Mov. Disord. 26:924-925(2011).
RN [31]
RP VARIANTS DYT6 PRO-6; ASN-69 DEL AND ARG-72.
RX PubMed=21110056; DOI=10.1007/s10048-010-0264-3;
RA Clot F., Grabli D., Burbaud P., Aya M., Derkinderen P., Defebvre L.,
RA Damier P., Krystkowiak P., Pollak P., Leguern E., San C., Camuzat A.,
RA Roze E., Vidailhet M., Durr A., Brice A.;
RT "Screening of the THAP1 gene in patients with early-onset dystonia:
RT myoclonic jerks are part of the dystonia 6 phenotype.";
RL Neurogenetics 12:87-89(2011).
RN [32]
RP VARIANTS DYT6 ASP-7; GLU-16; CYS-21; GLN-29 AND VAL-80.
RX PubMed=22377579; DOI=10.1016/j.parkreldis.2012.02.001;
RA Ledoux M.S., Xiao J., Rudzinska M., Bastian R.W., Wszolek Z.K.,
RA Van Gerpen J.A., Puschmann A., Momcilovic D., Vemula S.R., Zhao Y.;
RT "Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations
RT and description of new cases.";
RL Parkinsonism Relat. Disord. 18:414-425(2012).
RN [33]
RP VARIANT DYT6 GLY-56.
RX PubMed=25385508; DOI=10.3109/00207454.2014.981749;
RA Gajos A., Golanska E., Sieruta M., Szybka M., Liberski P.P., Bogucki A.;
RT "High variability of clinical symptoms in a Polish family with a novel
RT THAP1 mutation.";
RL Int. J. Neurosci. 125:755-759(2015).
RN [34]
RP SUBUNIT, REGION, VARIANTS DYT6 VAL-143; THR-149; PRO-150; THR-166; GLN-169;
RP ARG-170; GLY-174; PRO-177 AND SER-180, AND CHARACTERIZATION OF VARIANTS
RP DYT6 THR-149; PRO-150; THR-166; GLN-169; ARG-170; GLY-174; PRO-177 AND
RP SER-180.
RX PubMed=28299530; DOI=10.1007/s12031-017-0904-2;
RA Richter A., Hollstein R., Hebert E., Vulinovic F., Eckhold J.,
RA Osmanovic A., Depping R., Kaiser F.J., Lohmann K.;
RT "In-depth Characterization of the Homodimerization Domain of the
RT Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.";
RL J. Mol. Neurosci. 62:11-16(2017).
CC -!- FUNCTION: DNA-binding transcription regulator that regulates
CC endothelial cell proliferation and G1/S cell-cycle progression.
CC Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence
CC and acts by modulating expression of pRB-E2F cell-cycle target genes,
CC including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is
CC required for the regulation of the transcriptional activity of RRM1.
CC May also have pro-apoptotic activity by potentiating both serum-
CC withdrawal and TNF-induced apoptosis. {ECO:0000269|PubMed:12717420,
CC ECO:0000269|PubMed:17003378, ECO:0000269|PubMed:20200153}.
CC -!- SUBUNIT: Homodimer (PubMed:28299530). Interacts with PAWR. Component of
CC a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3,
CC HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1
CC (via the Kelch-repeat domain); the interaction recruits HCFC1 to the
CC RRM1 promoter (PubMed:12717420, PubMed:20144952, PubMed:20200153).
CC {ECO:0000269|PubMed:12717420, ECO:0000269|PubMed:20144952,
CC ECO:0000269|PubMed:20200153, ECO:0000269|PubMed:28299530}.
CC -!- INTERACTION:
CC Q9NVV9; A0A0S2Z645: ABCF3; NbExp=3; IntAct=EBI-741515, EBI-16432404;
CC Q9NVV9; O00154: ACOT7; NbExp=3; IntAct=EBI-741515, EBI-948905;
CC Q9NVV9; O00154-4: ACOT7; NbExp=3; IntAct=EBI-741515, EBI-12007918;
CC Q9NVV9; Q02040: AKAP17A; NbExp=5; IntAct=EBI-741515, EBI-1042725;
CC Q9NVV9; Q02040-3: AKAP17A; NbExp=3; IntAct=EBI-741515, EBI-10222656;
CC Q9NVV9; Q99996-2: AKAP9; NbExp=3; IntAct=EBI-741515, EBI-9641546;
CC Q9NVV9; P63010: AP2B1; NbExp=4; IntAct=EBI-741515, EBI-432924;
CC Q9NVV9; Q66PJ3-3: ARL6IP4; NbExp=3; IntAct=EBI-741515, EBI-10248982;
CC Q9NVV9; Q9UL15: BAG5; NbExp=7; IntAct=EBI-741515, EBI-356517;
CC Q9NVV9; Q8N7W2-2: BEND7; NbExp=3; IntAct=EBI-741515, EBI-10181188;
CC Q9NVV9; Q13895: BYSL; NbExp=8; IntAct=EBI-741515, EBI-358049;
CC Q9NVV9; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-741515, EBI-747505;
CC Q9NVV9; Q96LM5: C4orf45; NbExp=3; IntAct=EBI-741515, EBI-12020542;
CC Q9NVV9; Q9BRJ6: C7orf50; NbExp=6; IntAct=EBI-741515, EBI-751612;
CC Q9NVV9; Q16543: CDC37; NbExp=3; IntAct=EBI-741515, EBI-295634;
CC Q9NVV9; P46527: CDKN1B; NbExp=3; IntAct=EBI-741515, EBI-519280;
CC Q9NVV9; P55273: CDKN2D; NbExp=3; IntAct=EBI-741515, EBI-745859;
CC Q9NVV9; O14647: CHD2; NbExp=3; IntAct=EBI-741515, EBI-1210503;
CC Q9NVV9; P68400: CSNK2A1; NbExp=7; IntAct=EBI-741515, EBI-347804;
CC Q9NVV9; Q5TAQ9: DCAF8; NbExp=3; IntAct=EBI-741515, EBI-740686;
CC Q9NVV9; Q86V42: FAM124A; NbExp=3; IntAct=EBI-741515, EBI-744506;
CC Q9NVV9; Q8N9E0: FAM133A; NbExp=6; IntAct=EBI-741515, EBI-10268158;
CC Q9NVV9; Q8IZU1: FAM9A; NbExp=3; IntAct=EBI-741515, EBI-8468186;
CC Q9NVV9; O15520: FGF10; NbExp=3; IntAct=EBI-741515, EBI-1035684;
CC Q9NVV9; Q92914: FGF11; NbExp=3; IntAct=EBI-741515, EBI-11987787;
CC Q9NVV9; P61328-2: FGF12; NbExp=3; IntAct=EBI-741515, EBI-10699759;
CC Q9NVV9; O95995: GAS8; NbExp=3; IntAct=EBI-741515, EBI-1052570;
CC Q9NVV9; P14136: GFAP; NbExp=3; IntAct=EBI-741515, EBI-744302;
CC Q9NVV9; Q9NWQ4: GPATCH2L; NbExp=3; IntAct=EBI-741515, EBI-5666657;
CC Q9NVV9; Q9NWQ4-1: GPATCH2L; NbExp=5; IntAct=EBI-741515, EBI-11959863;
CC Q9NVV9; P51610: HCFC1; NbExp=6; IntAct=EBI-741515, EBI-396176;
CC Q9NVV9; A0A024RA76: hCG_1744368; NbExp=3; IntAct=EBI-741515, EBI-10180729;
CC Q9NVV9; A0A024R5S0: hCG_2003792; NbExp=6; IntAct=EBI-741515, EBI-10188461;
CC Q9NVV9; Q8WVV9: HNRNPLL; NbExp=3; IntAct=EBI-741515, EBI-535849;
CC Q9NVV9; Q9C086: INO80B; NbExp=3; IntAct=EBI-741515, EBI-715611;
CC Q9NVV9; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-741515, EBI-2556193;
CC Q9NVV9; Q9Y4X4: KLF12; NbExp=3; IntAct=EBI-741515, EBI-750750;
CC Q9NVV9; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-741515, EBI-10172290;
CC Q9NVV9; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-741515, EBI-739909;
CC Q9NVV9; Q14847: LASP1; NbExp=3; IntAct=EBI-741515, EBI-742828;
CC Q9NVV9; Q03252: LMNB2; NbExp=3; IntAct=EBI-741515, EBI-2830427;
CC Q9NVV9; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-741515, EBI-11742507;
CC Q9NVV9; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-741515, EBI-739832;
CC Q9NVV9; Q8N6R0: METTL13; NbExp=4; IntAct=EBI-741515, EBI-1053295;
CC Q9NVV9; P55081: MFAP1; NbExp=3; IntAct=EBI-741515, EBI-1048159;
CC Q9NVV9; Q9NYP9: MIS18A; NbExp=3; IntAct=EBI-741515, EBI-1104552;
CC Q9NVV9; Q9BU76: MMTAG2; NbExp=9; IntAct=EBI-741515, EBI-742459;
CC Q9NVV9; Q9UBU8: MORF4L1; NbExp=3; IntAct=EBI-741515, EBI-399246;
CC Q9NVV9; Q15014: MORF4L2; NbExp=3; IntAct=EBI-741515, EBI-399257;
CC Q9NVV9; Q9Y3B7: MRPL11; NbExp=4; IntAct=EBI-741515, EBI-5453723;
CC Q9NVV9; Q96EL3: MRPL53; NbExp=3; IntAct=EBI-741515, EBI-2513715;
CC Q9NVV9; O14561: NDUFAB1; NbExp=3; IntAct=EBI-741515, EBI-1246261;
CC Q9NVV9; P19404: NDUFV2; NbExp=3; IntAct=EBI-741515, EBI-713665;
CC Q9NVV9; Q6ZUT1: NKAPD1; NbExp=6; IntAct=EBI-741515, EBI-3920396;
CC Q9NVV9; Q6ZUT1-2: NKAPD1; NbExp=3; IntAct=EBI-741515, EBI-10180231;
CC Q9NVV9; P29474: NOS3; NbExp=3; IntAct=EBI-741515, EBI-1391623;
CC Q9NVV9; Q96HA8: NTAQ1; NbExp=8; IntAct=EBI-741515, EBI-741158;
CC Q9NVV9; P37198: NUP62; NbExp=12; IntAct=EBI-741515, EBI-347978;
CC Q9NVV9; O43189: PHF1; NbExp=4; IntAct=EBI-741515, EBI-530034;
CC Q9NVV9; Q5T6S3: PHF19; NbExp=3; IntAct=EBI-741515, EBI-2339674;
CC Q9NVV9; Q7Z2X4: PID1; NbExp=3; IntAct=EBI-741515, EBI-10256685;
CC Q9NVV9; D3DTS7: PMP22; NbExp=3; IntAct=EBI-741515, EBI-25882629;
CC Q9NVV9; Q96T60: PNKP; NbExp=3; IntAct=EBI-741515, EBI-1045072;
CC Q9NVV9; P62875: POLR2L; NbExp=3; IntAct=EBI-741515, EBI-359527;
CC Q9NVV9; P78424: POU6F2; NbExp=3; IntAct=EBI-741515, EBI-12029004;
CC Q9NVV9; Q13427: PPIG; NbExp=3; IntAct=EBI-741515, EBI-396072;
CC Q9NVV9; Q13131: PRKAA1; NbExp=3; IntAct=EBI-741515, EBI-1181405;
CC Q9NVV9; P86479: PRR20C; NbExp=3; IntAct=EBI-741515, EBI-10172814;
CC Q9NVV9; P86480: PRR20D; NbExp=3; IntAct=EBI-741515, EBI-12754095;
CC Q9NVV9; Q9Y4B4: RAD54L2; NbExp=3; IntAct=EBI-741515, EBI-948156;
CC Q9NVV9; Q53GL6: RALY; NbExp=3; IntAct=EBI-741515, EBI-9512693;
CC Q9NVV9; Q86SE5: RALYL; NbExp=4; IntAct=EBI-741515, EBI-741520;
CC Q9NVV9; Q86SE5-3: RALYL; NbExp=6; IntAct=EBI-741515, EBI-11526555;
CC Q9NVV9; P98175: RBM10; NbExp=6; IntAct=EBI-741515, EBI-721525;
CC Q9NVV9; Q14498: RBM39; NbExp=6; IntAct=EBI-741515, EBI-395290;
CC Q9NVV9; Q0D2K3: RIPPLY1; NbExp=6; IntAct=EBI-741515, EBI-10226430;
CC Q9NVV9; P78317: RNF4; NbExp=3; IntAct=EBI-741515, EBI-2340927;
CC Q9NVV9; P35268: RPL22; NbExp=3; IntAct=EBI-741515, EBI-354533;
CC Q9NVV9; P62851: RPS25; NbExp=3; IntAct=EBI-741515, EBI-353054;
CC Q9NVV9; Q9UHR5: SAP30BP; NbExp=3; IntAct=EBI-741515, EBI-751683;
CC Q9NVV9; O95391: SLU7; NbExp=3; IntAct=EBI-741515, EBI-750559;
CC Q9NVV9; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-741515, EBI-12023934;
CC Q9NVV9; Q8N9Q2: SREK1IP1; NbExp=3; IntAct=EBI-741515, EBI-10268630;
CC Q9NVV9; Q96SI9: STRBP; NbExp=7; IntAct=EBI-741515, EBI-740355;
CC Q9NVV9; Q15560: TCEA2; NbExp=6; IntAct=EBI-741515, EBI-710310;
CC Q9NVV9; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-741515, EBI-11955057;
CC Q9NVV9; Q9NVV9: THAP1; NbExp=9; IntAct=EBI-741515, EBI-741515;
CC Q9NVV9; P06753: TPM3; NbExp=6; IntAct=EBI-741515, EBI-355607;
CC Q9NVV9; Q5VU62: TPM3; NbExp=3; IntAct=EBI-741515, EBI-10184033;
CC Q9NVV9; O00463: TRAF5; NbExp=6; IntAct=EBI-741515, EBI-523498;
CC Q9NVV9; Q12899: TRIM26; NbExp=6; IntAct=EBI-741515, EBI-2341136;
CC Q9NVV9; Q15642-2: TRIP10; NbExp=3; IntAct=EBI-741515, EBI-6550597;
CC Q9NVV9; Q6ZVT0: TTLL10; NbExp=3; IntAct=EBI-741515, EBI-7844656;
CC Q9NVV9; P26368: U2AF2; NbExp=4; IntAct=EBI-741515, EBI-742339;
CC Q9NVV9; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-741515, EBI-10180829;
CC Q9NVV9; Q3SXR9: VCX2; NbExp=3; IntAct=EBI-741515, EBI-11983741;
CC Q9NVV9; P07947: YES1; NbExp=6; IntAct=EBI-741515, EBI-515331;
CC Q9NVV9; P10074: ZBTB48; NbExp=3; IntAct=EBI-741515, EBI-744864;
CC Q9NVV9; Q8TBK6: ZCCHC10; NbExp=10; IntAct=EBI-741515, EBI-597063;
CC Q9NVV9; Q8N5A5-2: ZGPAT; NbExp=3; IntAct=EBI-741515, EBI-10183064;
CC Q9NVV9; Q66K41: ZNF385C; NbExp=4; IntAct=EBI-741515, EBI-8651919;
CC Q9NVV9; Q66K41-2: ZNF385C; NbExp=3; IntAct=EBI-741515, EBI-12055653;
CC Q9NVV9; Q9H9D4: ZNF408; NbExp=4; IntAct=EBI-741515, EBI-347633;
CC Q9NVV9; Q8TF50: ZNF526; NbExp=3; IntAct=EBI-741515, EBI-11035148;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:12717420}. Nucleus, PML body
CC {ECO:0000269|PubMed:12717420}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NVV9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NVV9-2; Sequence=VSP_044665, VSP_044666;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, kidney
CC and liver. Weaker expression in brain and placenta.
CC {ECO:0000269|PubMed:20200153}.
CC -!- DISEASE: Dystonia 6, torsion (DYT6) [MIM:602629]: A primary torsion
CC dystonia. Dystonia is defined by the presence of sustained involuntary
CC muscle contractions, often leading to abnormal postures. Dystonia type
CC 6 is characterized by onset in early adulthood, cranial or cervical
CC involvement in about half of the cases, and frequent progression to
CC involve multiple body regions. {ECO:0000269|PubMed:19182804,
CC ECO:0000269|PubMed:19345147, ECO:0000269|PubMed:19908320,
CC ECO:0000269|PubMed:19908325, ECO:0000269|PubMed:20083799,
CC ECO:0000269|PubMed:20211909, ECO:0000269|PubMed:20629133,
CC ECO:0000269|PubMed:20669277, ECO:0000269|PubMed:20687191,
CC ECO:0000269|PubMed:20825472, ECO:0000269|PubMed:21110056,
CC ECO:0000269|PubMed:21425335, ECO:0000269|PubMed:21425341,
CC ECO:0000269|PubMed:21800139, ECO:0000269|PubMed:21839475,
CC ECO:0000269|PubMed:21847143, ECO:0000269|PubMed:22377579,
CC ECO:0000269|PubMed:25385508, ECO:0000269|PubMed:28299530,
CC ECO:0000269|Ref.3}. Note=The disease is caused by variants affecting
CC the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the THAP1 family. {ECO:0000305}.
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DR EMBL; AK001339; BAA91635.1; -; mRNA.
DR EMBL; CR457256; CAG33537.1; -; mRNA.
DR EMBL; AK223231; BAD96951.1; -; mRNA.
DR EMBL; AL832077; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC087533; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63205.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63206.1; -; Genomic_DNA.
DR EMBL; BC021721; AAH21721.1; -; mRNA.
DR CCDS; CCDS6136.1; -. [Q9NVV9-1]
DR CCDS; CCDS6137.1; -. [Q9NVV9-2]
DR RefSeq; NP_060575.1; NM_018105.2. [Q9NVV9-1]
DR RefSeq; NP_945354.1; NM_199003.1. [Q9NVV9-2]
DR PDB; 2JTG; NMR; -; A=1-81.
DR PDB; 2KO0; NMR; -; A=1-82.
DR PDB; 2L1G; NMR; -; A=1-82.
DR PDBsum; 2JTG; -.
DR PDBsum; 2KO0; -.
DR PDBsum; 2L1G; -.
DR AlphaFoldDB; Q9NVV9; -.
DR BMRB; Q9NVV9; -.
DR SMR; Q9NVV9; -.
DR BioGRID; 120448; 125.
DR ELM; Q9NVV9; -.
DR IntAct; Q9NVV9; 110.
DR MINT; Q9NVV9; -.
DR STRING; 9606.ENSP00000254250; -.
DR DrugCentral; Q9NVV9; -.
DR iPTMnet; Q9NVV9; -.
DR PhosphoSitePlus; Q9NVV9; -.
DR BioMuta; THAP1; -.
DR DMDM; 29839656; -.
DR EPD; Q9NVV9; -.
DR MassIVE; Q9NVV9; -.
DR MaxQB; Q9NVV9; -.
DR PaxDb; Q9NVV9; -.
DR PeptideAtlas; Q9NVV9; -.
DR PRIDE; Q9NVV9; -.
DR ProteomicsDB; 46208; -.
DR ProteomicsDB; 82871; -. [Q9NVV9-1]
DR ABCD; Q9NVV9; 1 sequenced antibody.
DR Antibodypedia; 24159; 134 antibodies from 27 providers.
DR DNASU; 55145; -.
DR Ensembl; ENST00000254250.7; ENSP00000254250.3; ENSG00000131931.8. [Q9NVV9-1]
DR Ensembl; ENST00000345117.2; ENSP00000344966.2; ENSG00000131931.8. [Q9NVV9-2]
DR GeneID; 55145; -.
DR KEGG; hsa:55145; -.
DR MANE-Select; ENST00000254250.7; ENSP00000254250.3; NM_018105.3; NP_060575.1.
DR UCSC; uc003xpk.4; human. [Q9NVV9-1]
DR CTD; 55145; -.
DR DisGeNET; 55145; -.
DR GeneCards; THAP1; -.
DR HGNC; HGNC:20856; THAP1.
DR HPA; ENSG00000131931; Low tissue specificity.
DR MalaCards; THAP1; -.
DR MIM; 602629; phenotype.
DR MIM; 609520; gene.
DR neXtProt; NX_Q9NVV9; -.
DR OpenTargets; ENSG00000131931; -.
DR Orphanet; 98806; Primary dystonia, DYT6 type.
DR PharmGKB; PA134920361; -.
DR VEuPathDB; HostDB:ENSG00000131931; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000159383; -.
DR HOGENOM; CLU_076186_2_1_1; -.
DR InParanoid; Q9NVV9; -.
DR OMA; LMPPLHT; -.
DR OrthoDB; 1382095at2759; -.
DR PhylomeDB; Q9NVV9; -.
DR TreeFam; TF330127; -.
DR PathwayCommons; Q9NVV9; -.
DR SignaLink; Q9NVV9; -.
DR BioGRID-ORCS; 55145; 658 hits in 1107 CRISPR screens.
DR ChiTaRS; THAP1; human.
DR EvolutionaryTrace; Q9NVV9; -.
DR GeneWiki; THAP1; -.
DR GenomeRNAi; 55145; -.
DR Pharos; Q9NVV9; Tbio.
DR PRO; PR:Q9NVV9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9NVV9; protein.
DR Bgee; ENSG00000131931; Expressed in secondary oocyte and 178 other tissues.
DR ExpressionAtlas; Q9NVV9; baseline and differential.
DR Genevisible; Q9NVV9; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0016605; C:PML body; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0008270; F:zinc ion binding; IDA:UniProtKB.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0001935; P:endothelial cell proliferation; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0007346; P:regulation of mitotic cell cycle; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IMP:UniProtKB.
DR GO; GO:0006351; P:transcription, DNA-templated; IMP:UniProtKB.
DR Gene3D; 6.20.210.20; -; 1.
DR InterPro; IPR026516; THAP1.
DR InterPro; IPR006612; THAP_Znf.
DR InterPro; IPR038441; THAP_Znf_sf.
DR PANTHER; PTHR46600; PTHR46600; 1.
DR Pfam; PF05485; THAP; 1.
DR SMART; SM00692; DM3; 1.
DR SMART; SM00980; THAP; 1.
DR PROSITE; PS50950; ZF_THAP; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell cycle; Coiled coil;
KW Disease variant; DNA-binding; Dystonia; Metal-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..213
FT /note="THAP domain-containing protein 1"
FT /id="PRO_0000068637"
FT ZN_FING 1..81
FT /note="THAP-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00309"
FT REGION 139..185
FT /note="Involved in homodimer formation"
FT /evidence="ECO:0000269|PubMed:28299530"
FT COILED 139..190
FT /evidence="ECO:0000255"
FT MOTIF 134..137
FT /note="HCFC1-binding motif (HBM)"
FT VAR_SEQ 25..53
FT /note="FPLTRPSLCKEWEAAVRRKNFKPTKYSSI -> KKIFWSHRNSFPHLLYRLL
FT FPRLMLLLDY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_044665"
FT VAR_SEQ 54..213
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_044666"
FT VARIANT 6
FT /note="S -> F (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20211909"
FT /id="VAR_066677"
FT VARIANT 6
FT /note="S -> P (in DYT6; dbSNP:rs1586459410)"
FT /evidence="ECO:0000269|PubMed:21110056"
FT /id="VAR_066678"
FT VARIANT 7
FT /note="A -> D (in DYT6)"
FT /evidence="ECO:0000269|PubMed:22377579"
FT /id="VAR_067356"
FT VARIANT 8
FT /note="Y -> C (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20211909"
FT /id="VAR_066679"
FT VARIANT 9
FT /note="G -> C (in DYT6; dbSNP:rs267607112)"
FT /evidence="ECO:0000269|PubMed:20083799"
FT /id="VAR_066680"
FT VARIANT 12
FT /note="N -> K (in DYT6)"
FT /evidence="ECO:0000269|PubMed:19345147"
FT /id="VAR_065880"
FT VARIANT 13
FT /note="R -> H (in DYT6)"
FT /evidence="ECO:0000269|PubMed:21847143"
FT /id="VAR_066681"
FT VARIANT 16
FT /note="K -> E (in DYT6; lower activity than wild-type)"
FT /evidence="ECO:0000269|PubMed:21847143,
FT ECO:0000269|PubMed:22377579"
FT /id="VAR_066682"
FT VARIANT 17
FT /note="D -> G (in DYT6; dbSNP:rs766483829)"
FT /evidence="ECO:0000269|PubMed:20083799"
FT /id="VAR_066683"
FT VARIANT 21
FT /note="S -> C (in DYT6)"
FT /evidence="ECO:0000269|PubMed:22377579"
FT /id="VAR_067357"
FT VARIANT 21
FT /note="S -> T (in DYT6)"
FT /evidence="ECO:0000269|PubMed:19345147"
FT /id="VAR_065881"
FT VARIANT 23
FT /note="H -> P (in DYT6; lower activity than wild-type;
FT dbSNP:rs387907177)"
FT /evidence="ECO:0000269|PubMed:21847143"
FT /id="VAR_066684"
FT VARIANT 24
FT /note="K -> E (in DYT6; lower activity than wild-type;
FT dbSNP:rs387907176)"
FT /evidence="ECO:0000269|PubMed:21847143"
FT /id="VAR_066685"
FT VARIANT 26
FT /note="P -> L (in DYT6; lower activity than wild-type)"
FT /evidence="ECO:0000269|PubMed:21847143"
FT /id="VAR_066686"
FT VARIANT 26
FT /note="P -> R (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20211909"
FT /id="VAR_066687"
FT VARIANT 29
FT /note="R -> P (in DYT6)"
FT /evidence="ECO:0000269|PubMed:19345147"
FT /id="VAR_065882"
FT VARIANT 29
FT /note="R -> Q (in DYT6; dbSNP:rs767952378)"
FT /evidence="ECO:0000269|PubMed:19908320,
FT ECO:0000269|PubMed:22377579"
FT /id="VAR_066688"
FT VARIANT 30
FT /note="P -> R (in DYT6)"
FT /evidence="ECO:0000269|PubMed:21425341"
FT /id="VAR_066689"
FT VARIANT 32
FT /note="L -> H (in DYT6; lower activity than wild-type)"
FT /evidence="ECO:0000269|PubMed:21425335"
FT /id="VAR_066690"
FT VARIANT 39
FT /note="A -> T (in DYT6)"
FT /evidence="ECO:0000269|PubMed:19345147"
FT /id="VAR_065883"
FT VARIANT 54
FT /note="C -> F (in DYT6)"
FT /evidence="ECO:0000269|PubMed:21800139"
FT /id="VAR_066691"
FT VARIANT 56
FT /note="E -> G (in DYT6)"
FT /evidence="ECO:0000269|PubMed:25385508"
FT /id="VAR_072272"
FT VARIANT 57
FT /note="H -> N (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20669277"
FT /id="VAR_066692"
FT VARIANT 59
FT /note="T -> I (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20687191"
FT /id="VAR_065884"
FT VARIANT 69
FT /note="Missing (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20687191,
FT ECO:0000269|PubMed:21110056"
FT /id="VAR_066693"
FT VARIANT 72
FT /note="L -> R (in DYT6)"
FT /evidence="ECO:0000269|PubMed:21110056"
FT /id="VAR_066694"
FT VARIANT 75
FT /note="N -> I (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20825472,
FT ECO:0000269|PubMed:21800139"
FT /id="VAR_066695"
FT VARIANT 80
FT /note="I -> V (in DYT6; mild phenotype; does not affect
FT activity; dbSNP:rs372080941)"
FT /evidence="ECO:0000269|PubMed:21847143,
FT ECO:0000269|PubMed:22377579"
FT /id="VAR_066696"
FT VARIANT 81
FT /note="F -> L (in DYT6; affects DNA-binding;
FT dbSNP:rs118204013)"
FT /evidence="ECO:0000269|PubMed:19182804,
FT ECO:0000269|PubMed:19345147"
FT /id="VAR_054788"
FT VARIANT 83
FT /note="C -> R (in DYT6; dbSNP:rs768017019)"
FT /evidence="ECO:0000269|PubMed:20669277"
FT /id="VAR_066697"
FT VARIANT 89
FT /note="K -> R (in DYT6; dbSNP:rs267607111)"
FT /evidence="ECO:0000269|PubMed:19345147, ECO:0000269|Ref.3"
FT /id="VAR_065885"
FT VARIANT 132
FT /note="F -> S (in DYT6; dbSNP:rs950435041)"
FT /evidence="ECO:0000269|PubMed:20083799"
FT /id="VAR_066698"
FT VARIANT 136
FT /note="N -> K (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20687191"
FT /id="VAR_065886"
FT VARIANT 136
FT /note="N -> S (in DYT6; dbSNP:rs769988455)"
FT /evidence="ECO:0000269|PubMed:20211909"
FT /id="VAR_066699"
FT VARIANT 137
FT /note="Y -> C (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20669277"
FT /id="VAR_066700"
FT VARIANT 143
FT /note="M -> V (in DYT6; no effect on dimerization;
FT dbSNP:rs374512193)"
FT /evidence="ECO:0000269|PubMed:20669277,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_066701"
FT VARIANT 149
FT /note="I -> T (in DYT6; no effect on dimerization)"
FT /evidence="ECO:0000269|PubMed:20083799,
FT ECO:0000269|PubMed:20629133, ECO:0000269|PubMed:28299530"
FT /id="VAR_066702"
FT VARIANT 150
FT /note="H -> P (in DYT6; no effect on dimerization)"
FT /evidence="ECO:0000269|PubMed:20825472,
FT ECO:0000269|PubMed:21800139, ECO:0000269|PubMed:28299530"
FT /id="VAR_066703"
FT VARIANT 166
FT /note="A -> T (in DYT6; no effect on dimerization;
FT dbSNP:rs138918468)"
FT /evidence="ECO:0000269|PubMed:20083799,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_066704"
FT VARIANT 169
FT /note="R -> Q (in DYT6; no effect on dimerization;
FT dbSNP:rs767519301)"
FT /evidence="ECO:0000269|PubMed:20211909,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_066705"
FT VARIANT 170
FT /note="C -> R (in DYT6; no effect on dimerization)"
FT /evidence="ECO:0000269|PubMed:19908325,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_065887"
FT VARIANT 174
FT /note="E -> G (in DYT6; no effect on dimerization;
FT dbSNP:rs759392096)"
FT /evidence="ECO:0000269|PubMed:21839475,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_066706"
FT VARIANT 177
FT /note="L -> P (in DYT6; no effect on dimerization)"
FT /evidence="ECO:0000269|PubMed:28299530"
FT /id="VAR_079366"
FT VARIANT 180
FT /note="L -> S (in DYT6; no effect on dimerization)"
FT /evidence="ECO:0000269|PubMed:21800139,
FT ECO:0000269|PubMed:28299530"
FT /id="VAR_066707"
FT VARIANT 187
FT /note="Q -> K (in DYT6)"
FT /evidence="ECO:0000269|PubMed:20083799"
FT /id="VAR_066708"
FT VARIANT 192
FT /note="D -> N (in DYT6; dbSNP:rs377725442)"
FT /evidence="ECO:0000269|PubMed:20669277"
FT /id="VAR_066709"
FT MUTAGEN 4
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 5
FT /note="C->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 6
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 8
FT /note="Y->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 10
FT /note="C->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 11
FT /note="K->A: Partially affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 16
FT /note="K->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 24
FT /note="K->A: Strongly affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 26
FT /note="P->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 27
FT /note="L->A: Partially affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 28..30
FT /note="TRP->AAA: Strongly affects DNA-binding."
FT MUTAGEN 28
FT /note="T->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 29
FT /note="R->A: Strongly affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 30
FT /note="P->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 31
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 32
FT /note="L->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 33
FT /note="C->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 34
FT /note="K->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 35
FT /note="E->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 36
FT /note="W->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 37
FT /note="E->A: Partially affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 40
FT /note="V->A: Partially affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 41..43
FT /note="RRK->AAA: Strongly affects DNA-binding."
FT MUTAGEN 41
FT /note="R->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 42
FT /note="R->A: Strongly affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 43
FT /note="K->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 44
FT /note="N->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 45
FT /note="F->A: Strongly affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 46
FT /note="K->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 47..49
FT /note="PTK->AAA: Strongly affects DNA-binding."
FT MUTAGEN 47
FT /note="P->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 48
FT /note="T->A: Strongly affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 49
FT /note="K->A: Does not affect DNA-binding."
FT MUTAGEN 50..52
FT /note="YSS->AAA: Strongly affects DNA-binding."
FT MUTAGEN 50
FT /note="Y->A: Partially affects DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 51
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 52
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 54
FT /note="C->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 55
FT /note="S->A: Does not affect DNA-binding."
FT /evidence="ECO:0000269|PubMed:18073205"
FT MUTAGEN 57
FT /note="H->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 58
FT /note="F->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT MUTAGEN 78
FT /note="P->A: Abolishes DNA- and zinc-binding."
FT /evidence="ECO:0000269|PubMed:15863623,
FT ECO:0000269|PubMed:18073205"
FT CONFLICT 171
FT /note="R -> G (in Ref. 2; CAG33537)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="A -> T (in Ref. 3; BAD96951)"
FT /evidence="ECO:0000305"
FT STRAND 6..9
FT /evidence="ECO:0007829|PDB:2KO0"
FT STRAND 16..18
FT /evidence="ECO:0007829|PDB:2JTG"
FT STRAND 22..24
FT /evidence="ECO:0007829|PDB:2JTG"
FT HELIX 33..40
FT /evidence="ECO:0007829|PDB:2JTG"
FT STRAND 42..44
FT /evidence="ECO:0007829|PDB:2KO0"
FT TURN 47..49
FT /evidence="ECO:0007829|PDB:2JTG"
FT STRAND 51..54
FT /evidence="ECO:0007829|PDB:2JTG"
FT HELIX 55..57
FT /evidence="ECO:0007829|PDB:2JTG"
FT HELIX 60..63
FT /evidence="ECO:0007829|PDB:2JTG"
FT STRAND 67..71
FT /evidence="ECO:0007829|PDB:2KO0"
FT HELIX 79..81
FT /evidence="ECO:0007829|PDB:2JTG"
SQ SEQUENCE 213 AA; 24944 MW; F3769B0F4CC56539 CRC64;
MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY SSICSEHFTP
DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL PPPPLPPPVS QVDAAIGLLM
PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH QLEQQVEKLR KKLKTAQQRC RRQERQLEKL
KEVVHFQKEK DDVSERGYVI LPNDYFEIVE VPA
