Q9NVV9 (THAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
THAP domain-containing protein 1

Gene names

Name:

THAP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	213 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Nucleus › nucleoplasm. Nucleus › PML 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 (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.

Ontologies

Keywords
Biological process	Cell cycle Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Dystonia
Domain	Coiled coil Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW endothelial cell proliferation Inferred from mutant phenotype Ref.10. Source: UniProtKB regulation of mitotic cell cycle Inferred from mutant phenotype Ref.10. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from mutant phenotype Ref.10. Source: UniProtKB transcription, DNA-dependent Inferred from mutant phenotype Ref.10. Source: UniProtKB
Cellular_component	PML body Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay Ref.10. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from direct assay Ref.9Ref.10Ref.14Ref.12. Source: UniProtKB zinc ion binding Inferred from direct assay Ref.9Ref.14. Source: UniProtKB
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 213

213

THAP domain-containing protein 1

PRO_0000068637

Regions

Zinc finger

1 – 81

81

THAP-type

Coiled coil

139 – 190

52

Potential

Motif

134 – 137

4

HCFC1-binding motif (HBM)

Compositional bias

96 – 108

13

Pro-rich

Natural variations

Alternative sequence

25 – 53

29

FPLTR…KYSSI → KKIFWSHRNSFPHLLYRLLF PRLMLLLDY in isoform 2.

VSP_044665

Alternative sequence

54 – 213

160

Missing in isoform 2.

VSP_044666

Natural variant

6

1

S → F in DYT6. Ref.24

VAR_066677

Natural variant

6

1

S → P in DYT6. Ref.31

VAR_066678

Natural variant

7

1

A → D in DYT6. Ref.32

VAR_067356

Natural variant

8

1

Y → C in DYT6. Ref.24

VAR_066679

Natural variant

9

1

G → C in DYT6. Ref.23

VAR_066680

Natural variant

12

1

N → K in DYT6. Ref.16

VAR_065880

Natural variant

13

1

R → H in DYT6. Ref.25

VAR_066681

Natural variant

16

1

K → E in DYT6; lower activity than wild-type. Ref.25 Ref.32

VAR_066682

Natural variant

17

1

D → G in DYT6. Ref.23

VAR_066683

Natural variant

21

1

S → C in DYT6. Ref.32

VAR_067357

Natural variant

21

1

S → T in DYT6. Ref.16

VAR_065881

Natural variant

23

1

H → P in DYT6; lower activity than wild-type. Ref.25

VAR_066684

Natural variant

24

1

K → E in DYT6; lower activity than wild-type. Ref.25

VAR_066685

Natural variant

26

1

P → L in DYT6; lower activity than wild-type. Ref.25

VAR_066686

Natural variant

26

1

P → R in DYT6. Ref.24

VAR_066687

Natural variant

29

1

R → P in DYT6. Ref.16

VAR_065882

Natural variant

29

1

R → Q in DYT6. Ref.18 Ref.32

VAR_066688

Natural variant

30

1

P → R in DYT6. Ref.30

VAR_066689

Natural variant

32

1

L → H in DYT6; lower activity than wild-type. Ref.29

VAR_066690

Natural variant

39

1

A → T in DYT6. Ref.16

VAR_065883

Natural variant

54

1

C → F in DYT6. Ref.27

VAR_066691

Natural variant

57

1

H → N in DYT6. Ref.21

VAR_066692

Natural variant

59

1

T → I in DYT6. Ref.22

VAR_065884

Natural variant

69

1

Missing in DYT6. Ref.22 Ref.31

VAR_066693

Natural variant

72

1

L → R in DYT6. Ref.31

VAR_066694

Natural variant

75

1

N → I in DYT6. Ref.26 Ref.27

VAR_066695

Natural variant

80

1

I → V in DYT6; mild phenotype; does not affect activity. Ref.25 Ref.32

VAR_066696

Natural variant

81

1

F → L in DYT6; affects DNA-binding. Ref.16 Ref.19

VAR_054788

Natural variant

83

1

C → R in DYT6. Ref.21

VAR_066697

Natural variant

89

1

K → R in DYT6. Ref.3 Ref.16

VAR_065885

Natural variant

132

1

F → S in DYT6. Ref.23

VAR_066698

Natural variant

136

1

N → K in DYT6. Ref.22

VAR_065886

Natural variant

136

1

N → S in DYT6. Ref.24

VAR_066699

Natural variant

137

1

Y → C in DYT6. Ref.21

VAR_066700

Natural variant

143

1

M → V in DYT6. Ref.21

VAR_066701

Natural variant

149

1

I → T in DYT6. Ref.20 Ref.23

VAR_066702

Natural variant

150

1

H → P in DYT6. Ref.26 Ref.27

VAR_066703

Natural variant

166

1

A → T in DYT6. Ref.23

VAR_066704

Natural variant

169

1

R → Q in DYT6. Ref.24

VAR_066705

Natural variant

170

1

C → R in DYT6. Ref.17

VAR_065887

Natural variant

174

1

E → G in DYT6. Ref.28

VAR_066706

Natural variant

180

1

L → S in DYT6. Ref.27

VAR_066707

Natural variant

187

1

Q → K in DYT6. Ref.23

VAR_066708

Natural variant

192

1

D → N in DYT6. Ref.21

VAR_066709

Experimental info

Mutagenesis

4

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

5

1

C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

6

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

8

1

Y → A: Does not affect DNA-binding. Ref.14

Mutagenesis

10

1

C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

11

1

K → A: Partially affects DNA-binding. Ref.14

Mutagenesis

16

1

K → A: Does not affect DNA-binding. Ref.14

Mutagenesis

24

1

K → A: Strongly affects DNA-binding. Ref.14

Mutagenesis

26

1

P → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

27

1

L → A: Partially affects DNA-binding. Ref.14

Mutagenesis

28 – 30

3

TRP → AAA: Strongly affects DNA-binding. Ref.14

Mutagenesis

28

1

T → A: Does not affect DNA-binding. Ref.14

Mutagenesis

29

1

R → A: Strongly affects DNA-binding. Ref.14

Mutagenesis

30

1

P → A: Does not affect DNA-binding. Ref.14

Mutagenesis

31

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

32

1

L → A: Does not affect DNA-binding. Ref.14

Mutagenesis

33

1

C → A: Does not affect DNA-binding. Ref.14

Mutagenesis

34

1

K → A: Does not affect DNA-binding. Ref.14

Mutagenesis

35

1

E → A: Does not affect DNA-binding. Ref.14

Mutagenesis

36

1

W → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

37

1

E → A: Partially affects DNA-binding. Ref.14

Mutagenesis

40

1

V → A: Partially affects DNA-binding. Ref.14

Mutagenesis

41 – 43

3

RRK → AAA: Strongly affects DNA-binding. Ref.14

Mutagenesis

41

1

R → A: Does not affect DNA-binding. Ref.14

Mutagenesis

42

1

R → A: Strongly affects DNA-binding. Ref.14

Mutagenesis

43

1

K → A: Does not affect DNA-binding. Ref.14

Mutagenesis

44

1

N → A: Does not affect DNA-binding. Ref.14

Mutagenesis

45

1

F → A: Strongly affects DNA-binding. Ref.14

Mutagenesis

46

1

K → A: Does not affect DNA-binding. Ref.14

Mutagenesis

47 – 49

3

PTK → AAA: Strongly affects DNA-binding. Ref.14

Mutagenesis

47

1

P → A: Does not affect DNA-binding. Ref.14

Mutagenesis

48

1

T → A: Strongly affects DNA-binding. Ref.14

Mutagenesis

49

1

K → A: Does not affect DNA-binding.

Mutagenesis

50 – 52

3

YSS → AAA: Strongly affects DNA-binding. Ref.14

Mutagenesis

50

1

Y → A: Partially affects DNA-binding. Ref.14

Mutagenesis

51

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

52

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

54

1

C → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

55

1

S → A: Does not affect DNA-binding. Ref.14

Mutagenesis

57

1

H → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

58

1

F → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Mutagenesis

78

1

P → A: Abolishes DNA- and zinc-binding. Ref.9 Ref.14

Sequence conflict

171

1

R → G in CAG33537. Ref.2

Sequence conflict

213

1

A → T in BAD96951. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

213

Helix Strand Turn

Details...

Beta strand

6 – 9

4

Beta strand

16 – 18

3

Beta strand

22 – 24

3

Helix

33 – 40

8

Beta strand

42 – 44

3

Turn

47 – 49

3

Beta strand

51 – 54

4

Helix

55 – 57

3

Helix

60 – 63

4

Beta strand

67 – 71

5

Helix

79 – 81

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: F3769B0F4CC56539	FASTA	213	24,944
	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
	Isoform 2 [UniParc]. Checksum: 5F29C2F675B375B7	FASTA	53	6,493
	10 20 30 40 50 MVQSCSAYGC KNRYDKDKPV SFHKKKIFWS HRNSFPHLLY RLLFPRLMLL LDY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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.

IPI

IPI00018216.

RefSeq

NP_060575.1. NM_018105.2.
NP_945354.1. NM_199003.1.

UniGene

Hs.7432.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2JTG	NMR	-	A	1-82	[»]
2KO0	NMR	-	A	1-82	[»]
2L1G	NMR	-	A	1-82	[»]

ProteinModelPortal

Q9NVV9.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NVV9. 15 interactions.

MINT

MINT-1434025.

STRING

9606.ENSP00000254250.

Polymorphism databases

DMDM

29839656.

Proteomic databases

PaxDb

Q9NVV9.

PRIDE

Q9NVV9.

Protocols and materials databases

DNASU

55145.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000254250; ENSP00000254250; ENSG00000131931.
ENST00000345117; ENSP00000344966; ENSG00000131931.

GeneID

55145.

KEGG

hsa:55145.

UCSC

uc003xpk.3. human.

Organism-specific databases

CTD

55145.

GeneCards

GC08M042691.

HGNC

HGNC:20856. THAP1.

MIM

602629. phenotype.
609520. gene.

neXtProt

NX_Q9NVV9.

Orphanet

98806. Primary dystonia, DYT6 type.

PharmGKB

PA134920361.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG84669.

HOGENOM

HOG000231117.

HOVERGEN

HBG057457.

InParanoid

Q9NVV9.

OMA

CKNRYHK.

OrthoDB

EOG4FJ89V.

PhylomeDB

Q9NVV9.

Gene expression databases

ArrayExpress

Q9NVV9.

Bgee

Q9NVV9.

CleanEx

HS_THAP1.

Genevestigator

Q9NVV9.

GermOnline

ENSG00000131931. Homo sapiens.

Family and domain databases

InterPro

IPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]

PANTHER

PTHR23080:SF11. PTHR23080:SF11. 1 hit.

Pfam

PF05485. THAP. 1 hit.
[Graphical view]

SMART

SM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]

PROSITE

PS50950. ZF_THAP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9NVV9.

GenomeRNAi

55145.

NextBio

58852.

SOURCE

Search...

Entry information

Entry name

THAP1_HUMAN

Accession

Primary (citable) accession number: Q9NVV9
Secondary accession number(s): A6NCB6 , D3DSY5, H9KV49, Q53FQ1, Q6IA99

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 11, 2003
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 99 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.