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Q9NVV9 (THAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
THAP domain-containing protein 1
Gene names
Name:THAP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length213 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. Ref.8 Ref.10 Ref.11

Subunit structure

Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter. Ref.8 Ref.11

Subcellular location

Nucleusnucleoplasm. NucleusPML body Ref.8.

Tissue specificity

Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta. Ref.11

Involvement in disease

Dystonia 6, torsion (DYT6) [MIM:602629]: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32

Sequence similarities

Belongs to the THAP1 family.

Contains 1 THAP-type zinc finger.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NVV9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NVV9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-53: FPLTRPSLCKEWEAAVRRKNFKPTKYSSI → KKIFWSHRNSFPHLLYRLLFPRLMLLLDY
     54-213: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 213213THAP domain-containing protein 1
PRO_0000068637

Regions

Zinc finger1 – 8181THAP-type
Coiled coil139 – 19052 Potential
Motif134 – 1374HCFC1-binding motif (HBM)
Compositional bias96 – 10813Pro-rich

Natural variations

Alternative sequence25 – 5329FPLTR…KYSSI → KKIFWSHRNSFPHLLYRLLF PRLMLLLDY in isoform 2.
VSP_044665
Alternative sequence54 – 213160Missing in isoform 2.
VSP_044666
Natural variant61S → F in DYT6. Ref.24
VAR_066677
Natural variant61S → P in DYT6. Ref.31
VAR_066678
Natural variant71A → D in DYT6. Ref.32
VAR_067356
Natural variant81Y → C in DYT6. Ref.24
VAR_066679
Natural variant91G → C in DYT6. Ref.23
VAR_066680
Natural variant121N → K in DYT6. Ref.16
VAR_065880
Natural variant131R → H in DYT6. Ref.25
VAR_066681
Natural variant161K → E in DYT6; lower activity than wild-type. Ref.25 Ref.32
VAR_066682
Natural variant171D → G in DYT6. Ref.23
VAR_066683
Natural variant211S → C in DYT6. Ref.32
VAR_067357
Natural variant211S → T in DYT6. Ref.16
VAR_065881
Natural variant231H → P in DYT6; lower activity than wild-type. Ref.25
VAR_066684
Natural variant241K → E in DYT6; lower activity than wild-type. Ref.25
VAR_066685
Natural variant261P → L in DYT6; lower activity than wild-type. Ref.25
VAR_066686
Natural variant261P → R in DYT6. Ref.24
VAR_066687
Natural variant291R → P in DYT6. Ref.16
VAR_065882
Natural variant291R → Q in DYT6. Ref.18 Ref.32
VAR_066688
Natural variant301P → R in DYT6. Ref.30
VAR_066689
Natural variant321L → H in DYT6; lower activity than wild-type. Ref.29
VAR_066690
Natural variant391A → T in DYT6. Ref.16
VAR_065883
Natural variant541C → F in DYT6. Ref.27
VAR_066691
Natural variant571H → N in DYT6. Ref.21
VAR_066692
Natural variant591T → I in DYT6. Ref.22
VAR_065884
Natural variant691Missing in DYT6. Ref.22 Ref.31
VAR_066693
Natural variant721L → R in DYT6. Ref.31
VAR_066694
Natural variant751N → I in DYT6. Ref.26 Ref.27
VAR_066695
Natural variant801I → V in DYT6; mild phenotype; does not affect activity. Ref.25 Ref.32
VAR_066696
Natural variant811F → L in DYT6; affects DNA-binding. Ref.16 Ref.19
VAR_054788
Natural variant831C → R in DYT6. Ref.21
VAR_066697
Natural variant891K → R in DYT6. Ref.3 Ref.16
VAR_065885
Natural variant1321F → S in DYT6. Ref.23
VAR_066698
Natural variant1361N → K in DYT6. Ref.22
VAR_065886
Natural variant1361N → S in DYT6. Ref.24
VAR_066699
Natural variant1371Y → C in DYT6. Ref.21
VAR_066700
Natural variant1431M → V in DYT6. Ref.21
VAR_066701
Natural variant1491I → T in DYT6. Ref.20 Ref.23
VAR_066702
Natural variant1501H → P in DYT6. Ref.26 Ref.27
VAR_066703
Natural variant1661A → T in DYT6. Ref.23
VAR_066704
Natural variant1691R → Q in DYT6. Ref.24
VAR_066705
Natural variant1701C → R in DYT6. Ref.17
VAR_065887
Natural variant1741E → G in DYT6. Ref.28
VAR_066706
Natural variant1801L → S in DYT6. Ref.27
VAR_066707
Natural variant1871Q → K in DYT6. Ref.23
VAR_066708
Natural variant1921D → N in DYT6. Ref.21
VAR_066709

Experimental info

Mutagenesis41S → A: Does not affect DNA-binding. Ref.14
Mutagenesis51C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis61S → A: Does not affect DNA-binding. Ref.14
Mutagenesis81Y → A: Does not affect DNA-binding. Ref.14
Mutagenesis101C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis111K → A: Partially affects DNA-binding. Ref.14
Mutagenesis161K → A: Does not affect DNA-binding. Ref.14
Mutagenesis241K → A: Strongly affects DNA-binding. Ref.14
Mutagenesis261P → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis271L → A: Partially affects DNA-binding. Ref.14
Mutagenesis28 – 303TRP → AAA: Strongly affects DNA-binding. Ref.14
Mutagenesis281T → A: Does not affect DNA-binding. Ref.14
Mutagenesis291R → A: Strongly affects DNA-binding. Ref.14
Mutagenesis301P → A: Does not affect DNA-binding. Ref.14
Mutagenesis311S → A: Does not affect DNA-binding. Ref.14
Mutagenesis321L → A: Does not affect DNA-binding. Ref.14
Mutagenesis331C → A: Does not affect DNA-binding. Ref.14
Mutagenesis341K → A: Does not affect DNA-binding. Ref.14
Mutagenesis351E → A: Does not affect DNA-binding. Ref.14
Mutagenesis361W → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis371E → A: Partially affects DNA-binding. Ref.14
Mutagenesis401V → A: Partially affects DNA-binding. Ref.14
Mutagenesis41 – 433RRK → AAA: Strongly affects DNA-binding. Ref.14
Mutagenesis411R → A: Does not affect DNA-binding. Ref.14
Mutagenesis421R → A: Strongly affects DNA-binding. Ref.14
Mutagenesis431K → A: Does not affect DNA-binding. Ref.14
Mutagenesis441N → A: Does not affect DNA-binding. Ref.14
Mutagenesis451F → A: Strongly affects DNA-binding. Ref.14
Mutagenesis461K → A: Does not affect DNA-binding. Ref.14
Mutagenesis47 – 493PTK → AAA: Strongly affects DNA-binding. Ref.14
Mutagenesis471P → A: Does not affect DNA-binding. Ref.14
Mutagenesis481T → A: Strongly affects DNA-binding. Ref.14
Mutagenesis491K → A: Does not affect DNA-binding.
Mutagenesis50 – 523YSS → AAA: Strongly affects DNA-binding. Ref.14
Mutagenesis501Y → A: Partially affects DNA-binding. Ref.14
Mutagenesis511S → A: Does not affect DNA-binding. Ref.14
Mutagenesis521S → A: Does not affect DNA-binding. Ref.14
Mutagenesis541C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis551S → A: Does not affect DNA-binding. Ref.14
Mutagenesis571H → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis581F → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Mutagenesis781P → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14
Sequence conflict1711R → G in CAG33537. Ref.2
Sequence conflict2131A → T in BAD96951. Ref.3

Secondary structure

...................... 213
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: F3769B0F4CC56539

FASTA21324,944
        10         20         30         40         50         60 
MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY SSICSEHFTP 

        70         80         90        100        110        120 
DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL PPPPLPPPVS QVDAAIGLLM 

       130        140        150        160        170        180 
PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH QLEQQVEKLR KKLKTAQQRC RRQERQLEKL 

       190        200        210 
KEVVHFQKEK DDVSERGYVI LPNDYFEIVE VPA 

« Hide

Isoform 2 [UniParc].

Checksum: 5F29C2F675B375B7
Show »

FASTA536,493

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT DYT6 ARG-89.
Tissue: Gastric mucosa.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Adipocyte.
[5]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[8]"THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies."
Roussigne M., Cayrol C., Clouaire T., Amalric F., Girard J.-P.
Oncogene 22:2432-2442(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PAWR.
[9]"The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity."
Clouaire T., Roussigne M., Ecochard V., Mathe C., Amalric F., Girard J.-P.
Proc. Natl. Acad. Sci. U.S.A. 102:6907-6912(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: DNA-BINDING, ZINC-BINDING, MUTAGENESIS OF CYS-5; CYS-10; PRO-26; TRP-36; CYS-54; HIS-57; PHE-58 AND PRO-78.
[10]"The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes."
Cayrol C., Lacroix C., Mathe C., Ecochard V., Ceribelli M., Loreau E., Lazar V., Dessen P., Mantovani R., Aguilar L., Girard J.-P.
Blood 109:584-594(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DNA-BINDING.
[11]"The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias."
Mazars R., Gonzalez-de-Peredo A., Cayrol C., Lavigne A.C., Vogel J.L., Ortega N., Lacroix C., Gautier V., Huet G., Ray A., Monsarrat B., Kristie T.M., Girard J.P.
J. Biol. Chem. 285:13364-13371(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY IN A THAP1/THAP3-HCFC1-OGT COMPLEX, INTERACTION WITH HCFC1 AND OGT, TISSUE SPECIFICITY, FUNCTION.
[12]"THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves."
Sabogal A., Lyubimov A.Y., Corn J.E., Berger J.M., Rio D.C.
Nat. Struct. Mol. Biol. 17:117-123(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: DNA-BINDING.
[13]"DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene."
Blanchard A., Ea V., Roubertie A., Martin M., Coquart C., Claustres M., Beroud C., Collod-Beroud G.
Hum. Mutat. 32:1213-1224(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[14]"Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways."
Bessiere D., Lacroix C., Campagne S., Ecochard V., Guillet V., Mourey L., Lopez F., Czaplicki J., Demange P., Milon A., Girard J.-P., Gervais V.
J. Biol. Chem. 283:4352-4363(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 1-82, MUTAGENESIS OF SER-4; CYS-5; SER-6; TYR-8; CYS-10; LYS-11; LYS-16; LYS-24; PRO-26; LEU-27; THR-28; ARG-29; PRO-30; SER-31; LEU-32; CYS-33; LYS-34; GLU-35; TRP-36; GLU-37; VAL-40; ARG-41; ARG-42; LYS-43; ASN-44; PHE-45; LYS-46; PRO-47; THR-48; TYR-50; SER-51; SER-52; CYS-54; SER-55; HIS-57; PHE-58 AND PRO-78.
[15]"Structural determinants of specific DNA-recognition by the THAP zinc finger."
Campagne S., Saurel O., Gervais V., Milon A.
Nucleic Acids Res. 38:3466-3476(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 1-82 IN COMPLEX WITH DNA.
[16]"Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study."
Bressman S.B., Raymond D., Fuchs T., Heiman G.A., Ozelius L.J., Saunders-Pullman R.
Lancet Neurol. 8:441-446(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 LYS-12; THR-21; PRO-29; THR-39; LEU-81 AND ARG-89.
[17]"Mutation screening of the DYT6/THAP1 gene in Italy."
Bonetti M., Barzaghi C., Brancati F., Ferraris A., Bellacchio E., Giovanetti A., Ialongo T., Zorzi G., Piano C., Petracca M., Albanese A., Nardocci N., Dallapiccola B., Bentivoglio A.R., Garavaglia B., Valente E.M.
Mov. Disord. 24:2424-2427(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 ARG-170.
[18]"Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia."
Paisan-Ruiz C., Ruiz-Martinez J., Ruibal M., Mok K.Y., Indakoetxea B., Gorostidi A., Masso J.F.
Mov. Disord. 24:2428-2429(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 GLN-29.
[19]"Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia."
Fuchs T., Gavarini S., Saunders-Pullman R., Raymond D., Ehrlich M.E., Bressman S.B., Ozelius L.J.
Nat. Genet. 41:286-288(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 LEU-81, DNA-BINDING.
[20]"Adult-onset leg dystonia due to a missense mutation in THAP1."
Van Gerpen J.A., Ledoux M.S., Wszolek Z.K.
Mov. Disord. 25:1306-1307(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 THR-149.
[21]"Prevalence of THAP1 sequence variants in German patients with primary dystonia."
Sohn A.S., Glockle N., Doetzer A.D., Deuschl G., Felbor U., Topka H.R., Schols L., Riess O., Bauer P., Muller U., Grundmann K.
Mov. Disord. 25:1982-1986(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 ASN-57; ARG-83; CYS-137; VAL-143 AND ASN-192.
[22]"DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation."
Groen J.L., Ritz K., Contarino M.F., van de Warrenburg B.P., Aramideh M., Foncke E.M., van Hilten J.J., Schuurman P.R., Speelman J.D., Koelman J.H., de Bie R.M., Baas F., Tijssen M.A.
Mov. Disord. 25:2420-2427(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 ILE-59; ASN-69 DEL AND LYS-136.
[23]"Novel THAP1 sequence variants in primary dystonia."
Xiao J., Zhao Y., Bastian R.W., Perlmutter J.S., Racette B.A., Tabbal S.D., Karimi M., Paniello R.C., Wszolek Z.K., Uitti R.J., Van Gerpen J.A., Simon D.K., Tarsy D., Hedera P., Truong D.D., Frei K.P., Dev Batish S., Blitzer A. expand/collapse author list , Pfeiffer R.F., Gong S., LeDoux M.S.
Neurology 74:229-238(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 CYS-9; GLY-17; SER-132; THR-149; THR-166 AND LYS-187.
[24]"THAP1 mutations (DYT6) are an additional cause of early-onset dystonia."
Houlden H., Schneider S.A., Paudel R., Melchers A., Schwingenschuh P., Edwards M., Hardy J., Bhatia K.P.
Neurology 74:846-850(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 PHE-6; CYS-8; ARG-26; SER-136 AND GLN-169.
[25]"Identification and functional analysis of novel THAP1 mutations."
Lohmann K., Uflacker N., Erogullari A., Lohnau T., Winkler S., Dendorfer A., Schneider S.A., Osmanovic A., Svetel M., Ferbert A., Zittel S., Kuhn A.A., Schmidt A., Altenmuller E., Munchau A., Kamm C., Wittstock M., Kupsch A. expand/collapse author list , Moro E., Volkmann J., Kostic V., Kaiser F.J., Klein C., Bruggemann N.
Eur. J. Hum. Genet. 20:171-175(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 HIS-13; GLU-16; PRO-23; GLU-24; LEU-26 AND VAL-80, CHARACTERIZATION OF VARIANTS DYT6 HIS-13; GLU-16; PRO-23; GLU-24; LEU-26 AND VAL-80.
[26]"Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China."
Cheng F.B., Wan X.H., Feng J.C., Wang L., Yang Y.M., Cui L.Y.
Eur. J. Neurol. 18:497-503(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 ILE-75 AND PRO-150.
[27]"THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression."
Cheng F.B., Ozelius L.J., Wan X.H., Feng J.C., Ma L.Y., Yang Y.M., Wang L.
J. Neurol. 259:342-347(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 PHE-54; ILE-75; PRO-150 AND SER-180.
[28]"Novel THAP1 gene mutations in patients with primary dystonia from Southwest China."
Song W., Chen Y., Huang R., Chen K., Pan P., Yang Y., Shang H.F.
J. Neurol. Sci. 309:63-67(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 GLY-174.
[29]"Homozygous THAP1 mutations as cause of early-onset generalized dystonia."
Schneider S.A., Ramirez A., Shafiee K., Kaiser F.J., Erogullari A., Bruggemann N., Winkler S., Bahman I., Osmanovic A., Shafa M.A., Bhatia K.P., Najmabadi H., Klein C., Lohmann K.
Mov. Disord. 26:858-861(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 HIS-32, CHARACTERIZATION OF VARIANT DYT6 HIS-32.
[30]"DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS."
Jech R., Bares M., Krepelova A., Urgosik D., Havrankova P., Ruzicka E.
Mov. Disord. 26:924-925(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT6 ARG-30.
[31]"Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype."
Clot F., Grabli D., Burbaud P., Aya M., Derkinderen P., Defebvre L., Damier P., Krystkowiak P., Pollak P., Leguern E., San C., Camuzat A., Roze E., Vidailhet M., Durr A., Brice A.
Neurogenetics 12:87-89(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 PRO-6; ASN-69 DEL AND ARG-72.
[32]"Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases."
Ledoux M.S., Xiao J., Rudzinska M., Bastian R.W., Wszolek Z.K., Van Gerpen J.A., Puschmann A., Momcilovic D., Vemula S.R., Zhao Y.
Parkinsonism Relat. Disord. 18:414-425(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT6 ASP-7; GLU-16; CYS-21; GLN-29 AND VAL-80.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK001339 mRNA. Translation: BAA91635.1.
CR457256 mRNA. Translation: CAG33537.1.
AK223231 mRNA. Translation: BAD96951.1.
AL832077 mRNA. No translation available.
AC087533 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63205.1.
CH471080 Genomic DNA. Translation: EAW63206.1.
BC021721 mRNA. Translation: AAH21721.1.
CCDSCCDS6136.1. [Q9NVV9-1]
CCDS6137.1. [Q9NVV9-2]
RefSeqNP_060575.1. NM_018105.2. [Q9NVV9-1]
NP_945354.1. NM_199003.1. [Q9NVV9-2]
UniGeneHs.7432.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2JTGNMR-A1-81[»]
2KO0NMR-A1-82[»]
2L1GNMR-A1-82[»]
ProteinModelPortalQ9NVV9.
SMRQ9NVV9. Positions 1-86.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120448. 19 interactions.
IntActQ9NVV9. 19 interactions.
MINTMINT-1434025.
STRING9606.ENSP00000254250.

Polymorphism databases

DMDM29839656.

Proteomic databases

MaxQBQ9NVV9.
PaxDbQ9NVV9.
PRIDEQ9NVV9.

Protocols and materials databases

DNASU55145.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254250; ENSP00000254250; ENSG00000131931. [Q9NVV9-1]
ENST00000345117; ENSP00000344966; ENSG00000131931. [Q9NVV9-2]
GeneID55145.
KEGGhsa:55145.
UCSCuc003xpk.3. human. [Q9NVV9-1]

Organism-specific databases

CTD55145.
GeneCardsGC08M042691.
HGNCHGNC:20856. THAP1.
MIM602629. phenotype.
609520. gene.
neXtProtNX_Q9NVV9.
Orphanet98806. Primary dystonia, DYT6 type.
PharmGKBPA134920361.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84669.
HOGENOMHOG000231117.
HOVERGENHBG057457.
InParanoidQ9NVV9.
OMADLCKKWE.
OrthoDBEOG7QVM4D.
PhylomeDBQ9NVV9.
TreeFamTF330127.

Gene expression databases

ArrayExpressQ9NVV9.
BgeeQ9NVV9.
CleanExHS_THAP1.
GenevestigatorQ9NVV9.

Family and domain databases

InterProIPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]
PANTHERPTHR23080:SF11. PTHR23080:SF11. 1 hit.
PfamPF05485. THAP. 1 hit.
[Graphical view]
SMARTSM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]
PROSITEPS50950. ZF_THAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9NVV9.
GeneWikiTHAP1.
GenomeRNAi55145.
NextBio58852.
PROQ9NVV9.
SOURCESearch...

Entry information

Entry nameTHAP1_HUMAN
AccessionPrimary (citable) accession number: Q9NVV9
Secondary accession number(s): A6NCB6 expand/collapse secondary AC list , D3DSY5, H9KV49, Q53FQ1, Q6IA99
Entry history
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM