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Protein

THAP domain-containing protein 1

Gene

THAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1 – 8181THAP-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • sequence-specific DNA binding Source: UniProtKB
  • zinc ion binding Source: UniProtKB

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • endothelial cell proliferation Source: UniProtKB
  • regulation of mitotic cell cycle Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
THAP domain-containing protein 1
Gene namesi
Name:THAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:20856. THAP1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
  • PML body Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Dystonia 6, torsion (DYT6)19 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:602629
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61S → F in DYT6. 1 Publication
VAR_066677
Natural varianti6 – 61S → P in DYT6. 1 Publication
VAR_066678
Natural varianti7 – 71A → D in DYT6. 1 Publication
VAR_067356
Natural varianti8 – 81Y → C in DYT6. 1 Publication
VAR_066679
Natural varianti9 – 91G → C in DYT6. 1 Publication
VAR_066680
Natural varianti12 – 121N → K in DYT6. 1 Publication
VAR_065880
Natural varianti13 – 131R → H in DYT6. 1 Publication
VAR_066681
Natural varianti16 – 161K → E in DYT6; lower activity than wild-type. 2 Publications
VAR_066682
Natural varianti17 – 171D → G in DYT6. 1 Publication
VAR_066683
Natural varianti21 – 211S → C in DYT6. 1 Publication
VAR_067357
Natural varianti21 – 211S → T in DYT6. 1 Publication
VAR_065881
Natural varianti23 – 231H → P in DYT6; lower activity than wild-type. 1 Publication
VAR_066684
Natural varianti24 – 241K → E in DYT6; lower activity than wild-type. 1 Publication
VAR_066685
Natural varianti26 – 261P → L in DYT6; lower activity than wild-type. 1 Publication
VAR_066686
Natural varianti26 – 261P → R in DYT6. 1 Publication
VAR_066687
Natural varianti29 – 291R → P in DYT6. 1 Publication
VAR_065882
Natural varianti29 – 291R → Q in DYT6. 2 Publications
VAR_066688
Natural varianti30 – 301P → R in DYT6. 1 Publication
VAR_066689
Natural varianti32 – 321L → H in DYT6; lower activity than wild-type. 1 Publication
VAR_066690
Natural varianti39 – 391A → T in DYT6. 1 Publication
VAR_065883
Natural varianti54 – 541C → F in DYT6. 1 Publication
VAR_066691
Natural varianti56 – 561E → G in DYT6. 1 Publication
VAR_072272
Natural varianti57 – 571H → N in DYT6. 1 Publication
VAR_066692
Natural varianti59 – 591T → I in DYT6. 1 Publication
VAR_065884
Natural varianti69 – 691Missing in DYT6. 2 Publications
VAR_066693
Natural varianti72 – 721L → R in DYT6. 1 Publication
VAR_066694
Natural varianti75 – 751N → I in DYT6. 2 Publications
VAR_066695
Natural varianti80 – 801I → V in DYT6; mild phenotype; does not affect activity. 2 Publications
VAR_066696
Natural varianti81 – 811F → L in DYT6; affects DNA-binding. 2 Publications
VAR_054788
Natural varianti83 – 831C → R in DYT6. 1 Publication
VAR_066697
Natural varianti89 – 891K → R in DYT6. 2 Publications
VAR_065885
Natural varianti132 – 1321F → S in DYT6. 1 Publication
VAR_066698
Natural varianti136 – 1361N → K in DYT6. 1 Publication
VAR_065886
Natural varianti136 – 1361N → S in DYT6. 1 Publication
VAR_066699
Natural varianti137 – 1371Y → C in DYT6. 1 Publication
VAR_066700
Natural varianti143 – 1431M → V in DYT6. 1 Publication
VAR_066701
Natural varianti149 – 1491I → T in DYT6. 2 Publications
VAR_066702
Natural varianti150 – 1501H → P in DYT6. 2 Publications
VAR_066703
Natural varianti166 – 1661A → T in DYT6. 1 Publication
VAR_066704
Natural varianti169 – 1691R → Q in DYT6. 1 Publication
VAR_066705
Natural varianti170 – 1701C → R in DYT6. 1 Publication
VAR_065887
Natural varianti174 – 1741E → G in DYT6. 1 Publication
VAR_066706
Natural varianti180 – 1801L → S in DYT6. 1 Publication
VAR_066707
Natural varianti187 – 1871Q → K in DYT6. 1 Publication
VAR_066708
Natural varianti192 – 1921D → N in DYT6. 1 Publication
VAR_066709

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi4 – 41S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi5 – 51C → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi6 – 61S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi8 – 81Y → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi10 – 101C → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi11 – 111K → A: Partially affects DNA-binding. 1 Publication
Mutagenesisi16 – 161K → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi24 – 241K → A: Strongly affects DNA-binding. 1 Publication
Mutagenesisi26 – 261P → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi27 – 271L → A: Partially affects DNA-binding. 1 Publication
Mutagenesisi28 – 303TRP → AAA: Strongly affects DNA-binding.
Mutagenesisi28 – 281T → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi29 – 291R → A: Strongly affects DNA-binding. 1 Publication
Mutagenesisi30 – 301P → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi31 – 311S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi32 – 321L → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi33 – 331C → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi34 – 341K → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi35 – 351E → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi36 – 361W → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi37 – 371E → A: Partially affects DNA-binding. 1 Publication
Mutagenesisi40 – 401V → A: Partially affects DNA-binding. 1 Publication
Mutagenesisi41 – 433RRK → AAA: Strongly affects DNA-binding.
Mutagenesisi41 – 411R → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi42 – 421R → A: Strongly affects DNA-binding. 1 Publication
Mutagenesisi43 – 431K → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi44 – 441N → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi45 – 451F → A: Strongly affects DNA-binding. 1 Publication
Mutagenesisi46 – 461K → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi47 – 493PTK → AAA: Strongly affects DNA-binding.
Mutagenesisi47 – 471P → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi48 – 481T → A: Strongly affects DNA-binding. 1 Publication
Mutagenesisi49 – 491K → A: Does not affect DNA-binding.
Mutagenesisi50 – 523YSS → AAA: Strongly affects DNA-binding.
Mutagenesisi50 – 501Y → A: Partially affects DNA-binding. 1 Publication
Mutagenesisi51 – 511S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi52 – 521S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi54 – 541C → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi55 – 551S → A: Does not affect DNA-binding. 1 Publication
Mutagenesisi57 – 571H → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi58 – 581F → A: Abolishes DNA- and zinc-binding. 2 Publications
Mutagenesisi78 – 781P → A: Abolishes DNA- and zinc-binding. 2 Publications

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

MIMi602629. phenotype.
Orphaneti98806. Primary dystonia, DYT6 type.
PharmGKBiPA134920361.

Polymorphism and mutation databases

BioMutaiTHAP1.
DMDMi29839656.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 213213THAP domain-containing protein 1PRO_0000068637Add
BLAST

Proteomic databases

MaxQBiQ9NVV9.
PaxDbiQ9NVV9.
PRIDEiQ9NVV9.

Expressioni

Tissue specificityi

Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta.1 Publication

Gene expression databases

BgeeiQ9NVV9.
CleanExiHS_THAP1.
ExpressionAtlasiQ9NVV9. baseline and differential.
GenevisibleiQ9NVV9. HS.

Interactioni

Subunit structurei

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.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-741515,EBI-741515
ACOT7O001543EBI-741515,EBI-948905
AKAP17AQ02040-33EBI-741515,EBI-10222656
AKAP9Q99996-23EBI-741515,EBI-9641546
AP2B1P630104EBI-741515,EBI-432924
ARL6IP4Q66PJ3-33EBI-741515,EBI-10248982
BAG5Q9UL153EBI-741515,EBI-356517
BYSLQ138955EBI-741515,EBI-358049
C11orf57Q6ZUT13EBI-741515,EBI-3920396
C11orf57Q6ZUT1-23EBI-741515,EBI-10180231
C7orf50Q9BRJ63EBI-741515,EBI-751612
CHD2O146473EBI-741515,EBI-1210503
CSNK2A1P684003EBI-741515,EBI-347804
DCAF8Q5TAQ93EBI-741515,EBI-740686
FAM124AQ86V423EBI-741515,EBI-744506
FAM133AQ8N9E03EBI-741515,EBI-10268158
GPATCH2LQ9NWQ43EBI-741515,EBI-5666657
hCG_1744368A0A024RA763EBI-741515,EBI-10180729
hCG_2003792A0A024R5S03EBI-741515,EBI-10188461
HNRNPLLQ8WVV93EBI-741515,EBI-535849
KLF12Q9Y4X43EBI-741515,EBI-750750
KRTAP10-7P604093EBI-741515,EBI-10172290
LASP1Q148473EBI-741515,EBI-742828
MMTAG2Q9BU764EBI-741515,EBI-742459
MORF4L1Q9UBU83EBI-741515,EBI-399246
MORF4L2Q150143EBI-741515,EBI-399257
MRPL11Q9Y3B73EBI-741515,EBI-5453723
NUP62P371986EBI-741515,EBI-347978
PID1Q7Z2X43EBI-741515,EBI-10256685
POLR2LP628753EBI-741515,EBI-359527
PPIGQ134273EBI-741515,EBI-396072
PRKAA1Q131313EBI-741515,EBI-1181405
PRR20CP864793EBI-741515,EBI-10172814
RALYLQ86SE54EBI-741515,EBI-741520
RBM39Q144983EBI-741515,EBI-395290
RIPPLY1Q0D2K33EBI-741515,EBI-10226430
RPS25P628513EBI-741515,EBI-353054
SAP30BPQ9UHR53EBI-741515,EBI-751683
SLU7O953913EBI-741515,EBI-750559
STRBPQ96SI94EBI-741515,EBI-740355
TCEA2Q155603EBI-741515,EBI-710310
TPM3Q5VU623EBI-741515,EBI-10184033
TRAF5O004633EBI-741515,EBI-523498
TRIM26Q128993EBI-741515,EBI-2341136
TTLL10Q6ZVT03EBI-741515,EBI-7844656
U2AF2P263684EBI-741515,EBI-742339
WDYHV1Q96HA84EBI-741515,EBI-741158
YES1P079473EBI-741515,EBI-515331
ZCCHC10Q8TBK64EBI-741515,EBI-597063
ZNF385CQ66K413EBI-741515,EBI-10219231

Protein-protein interaction databases

BioGridi120448. 64 interactions.
IntActiQ9NVV9. 60 interactions.
MINTiMINT-1434025.
STRINGi9606.ENSP00000254250.

Structurei

Secondary structure

1
213
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6 – 94Combined sources
Beta strandi16 – 183Combined sources
Beta strandi22 – 243Combined sources
Helixi33 – 408Combined sources
Beta strandi42 – 443Combined sources
Turni47 – 493Combined sources
Beta strandi51 – 544Combined sources
Helixi55 – 573Combined sources
Helixi60 – 634Combined sources
Beta strandi67 – 715Combined sources
Helixi79 – 813Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2JTGNMR-A1-81[»]
2KO0NMR-A1-82[»]
2L1GNMR-A1-82[»]
ProteinModelPortaliQ9NVV9.
SMRiQ9NVV9. Positions 1-86.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NVV9.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili139 – 19052Sequence AnalysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi134 – 1374HCFC1-binding motif (HBM)

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi96 – 10813Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the THAP1 family.Curated
Contains 1 THAP-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1 – 8181THAP-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG84669.
GeneTreeiENSGT00780000121923.
HOGENOMiHOG000231117.
HOVERGENiHBG057457.
InParanoidiQ9NVV9.
OMAiSCDHNYT.
OrthoDBiEOG7QVM4D.
PhylomeDBiQ9NVV9.
TreeFamiTF330127.

Family and domain databases

InterProiIPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]
PANTHERiPTHR23080:SF11. PTHR23080:SF11. 1 hit.
PfamiPF05485. THAP. 1 hit.
[Graphical view]
SMARTiSM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]
PROSITEiPS50950. ZF_THAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NVV9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY
60 70 80 90 100
SSICSEHFTP DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL
110 120 130 140 150
PPPPLPPPVS QVDAAIGLLM PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH
160 170 180 190 200
QLEQQVEKLR KKLKTAQQRC RRQERQLEKL KEVVHFQKEK DDVSERGYVI
210
LPNDYFEIVE VPA
Length:213
Mass (Da):24,944
Last modified:October 1, 2000 - v1
Checksum:iF3769B0F4CC56539
GO
Isoform 2 (identifier: Q9NVV9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-53: FPLTRPSLCKEWEAAVRRKNFKPTKYSSI → KKIFWSHRNSFPHLLYRLLFPRLMLLLDY
     54-213: Missing.

Note: No experimental confirmation available.
Show »
Length:53
Mass (Da):6,493
Checksum:i5F29C2F675B375B7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti171 – 1711R → G in CAG33537 (Ref. 2) Curated
Sequence conflicti213 – 2131A → T in BAD96951 (Ref. 3) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61S → F in DYT6. 1 Publication
VAR_066677
Natural varianti6 – 61S → P in DYT6. 1 Publication
VAR_066678
Natural varianti7 – 71A → D in DYT6. 1 Publication
VAR_067356
Natural varianti8 – 81Y → C in DYT6. 1 Publication
VAR_066679
Natural varianti9 – 91G → C in DYT6. 1 Publication
VAR_066680
Natural varianti12 – 121N → K in DYT6. 1 Publication
VAR_065880
Natural varianti13 – 131R → H in DYT6. 1 Publication
VAR_066681
Natural varianti16 – 161K → E in DYT6; lower activity than wild-type. 2 Publications
VAR_066682
Natural varianti17 – 171D → G in DYT6. 1 Publication
VAR_066683
Natural varianti21 – 211S → C in DYT6. 1 Publication
VAR_067357
Natural varianti21 – 211S → T in DYT6. 1 Publication
VAR_065881
Natural varianti23 – 231H → P in DYT6; lower activity than wild-type. 1 Publication
VAR_066684
Natural varianti24 – 241K → E in DYT6; lower activity than wild-type. 1 Publication
VAR_066685
Natural varianti26 – 261P → L in DYT6; lower activity than wild-type. 1 Publication
VAR_066686
Natural varianti26 – 261P → R in DYT6. 1 Publication
VAR_066687
Natural varianti29 – 291R → P in DYT6. 1 Publication
VAR_065882
Natural varianti29 – 291R → Q in DYT6. 2 Publications
VAR_066688
Natural varianti30 – 301P → R in DYT6. 1 Publication
VAR_066689
Natural varianti32 – 321L → H in DYT6; lower activity than wild-type. 1 Publication
VAR_066690
Natural varianti39 – 391A → T in DYT6. 1 Publication
VAR_065883
Natural varianti54 – 541C → F in DYT6. 1 Publication
VAR_066691
Natural varianti56 – 561E → G in DYT6. 1 Publication
VAR_072272
Natural varianti57 – 571H → N in DYT6. 1 Publication
VAR_066692
Natural varianti59 – 591T → I in DYT6. 1 Publication
VAR_065884
Natural varianti69 – 691Missing in DYT6. 2 Publications
VAR_066693
Natural varianti72 – 721L → R in DYT6. 1 Publication
VAR_066694
Natural varianti75 – 751N → I in DYT6. 2 Publications
VAR_066695
Natural varianti80 – 801I → V in DYT6; mild phenotype; does not affect activity. 2 Publications
VAR_066696
Natural varianti81 – 811F → L in DYT6; affects DNA-binding. 2 Publications
VAR_054788
Natural varianti83 – 831C → R in DYT6. 1 Publication
VAR_066697
Natural varianti89 – 891K → R in DYT6. 2 Publications
VAR_065885
Natural varianti132 – 1321F → S in DYT6. 1 Publication
VAR_066698
Natural varianti136 – 1361N → K in DYT6. 1 Publication
VAR_065886
Natural varianti136 – 1361N → S in DYT6. 1 Publication
VAR_066699
Natural varianti137 – 1371Y → C in DYT6. 1 Publication
VAR_066700
Natural varianti143 – 1431M → V in DYT6. 1 Publication
VAR_066701
Natural varianti149 – 1491I → T in DYT6. 2 Publications
VAR_066702
Natural varianti150 – 1501H → P in DYT6. 2 Publications
VAR_066703
Natural varianti166 – 1661A → T in DYT6. 1 Publication
VAR_066704
Natural varianti169 – 1691R → Q in DYT6. 1 Publication
VAR_066705
Natural varianti170 – 1701C → R in DYT6. 1 Publication
VAR_065887
Natural varianti174 – 1741E → G in DYT6. 1 Publication
VAR_066706
Natural varianti180 – 1801L → S in DYT6. 1 Publication
VAR_066707
Natural varianti187 – 1871Q → K in DYT6. 1 Publication
VAR_066708
Natural varianti192 – 1921D → N in DYT6. 1 Publication
VAR_066709

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 5329FPLTR…KYSSI → KKIFWSHRNSFPHLLYRLLF PRLMLLLDY in isoform 2. 1 PublicationVSP_044665Add
BLAST
Alternative sequencei54 – 213160Missing in isoform 2. 1 PublicationVSP_044666Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS6136.1. [Q9NVV9-1]
CCDS6137.1. [Q9NVV9-2]
RefSeqiNP_060575.1. NM_018105.2. [Q9NVV9-1]
NP_945354.1. NM_199003.1. [Q9NVV9-2]
UniGeneiHs.7432.

Genome annotation databases

EnsembliENST00000254250; ENSP00000254250; ENSG00000131931. [Q9NVV9-1]
ENST00000345117; ENSP00000344966; ENSG00000131931. [Q9NVV9-2]
GeneIDi55145.
KEGGihsa:55145.
UCSCiuc003xpk.3. human. [Q9NVV9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS6136.1. [Q9NVV9-1]
CCDS6137.1. [Q9NVV9-2]
RefSeqiNP_060575.1. NM_018105.2. [Q9NVV9-1]
NP_945354.1. NM_199003.1. [Q9NVV9-2]
UniGeneiHs.7432.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2JTGNMR-A1-81[»]
2KO0NMR-A1-82[»]
2L1GNMR-A1-82[»]
ProteinModelPortaliQ9NVV9.
SMRiQ9NVV9. Positions 1-86.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120448. 64 interactions.
IntActiQ9NVV9. 60 interactions.
MINTiMINT-1434025.
STRINGi9606.ENSP00000254250.

Polymorphism and mutation databases

BioMutaiTHAP1.
DMDMi29839656.

Proteomic databases

MaxQBiQ9NVV9.
PaxDbiQ9NVV9.
PRIDEiQ9NVV9.

Protocols and materials databases

DNASUi55145.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254250; ENSP00000254250; ENSG00000131931. [Q9NVV9-1]
ENST00000345117; ENSP00000344966; ENSG00000131931. [Q9NVV9-2]
GeneIDi55145.
KEGGihsa:55145.
UCSCiuc003xpk.3. human. [Q9NVV9-1]

Organism-specific databases

CTDi55145.
GeneCardsiGC08M042691.
HGNCiHGNC:20856. THAP1.
MIMi602629. phenotype.
609520. gene.
neXtProtiNX_Q9NVV9.
Orphaneti98806. Primary dystonia, DYT6 type.
PharmGKBiPA134920361.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG84669.
GeneTreeiENSGT00780000121923.
HOGENOMiHOG000231117.
HOVERGENiHBG057457.
InParanoidiQ9NVV9.
OMAiSCDHNYT.
OrthoDBiEOG7QVM4D.
PhylomeDBiQ9NVV9.
TreeFamiTF330127.

Miscellaneous databases

ChiTaRSiTHAP1. human.
EvolutionaryTraceiQ9NVV9.
GeneWikiiTHAP1.
GenomeRNAii55145.
NextBioi58852.
PROiQ9NVV9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NVV9.
CleanExiHS_THAP1.
ExpressionAtlasiQ9NVV9. baseline and differential.
GenevisibleiQ9NVV9. HS.

Family and domain databases

InterProiIPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]
PANTHERiPTHR23080:SF11. PTHR23080:SF11. 1 hit.
PfamiPF05485. THAP. 1 hit.
[Graphical view]
SMARTiSM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]
PROSITEiPS50950. ZF_THAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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. Cited for: VARIANTS DYT6 ILE-59; ASN-69 DEL AND LYS-136.
  23. 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. 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. 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.
  33. "High variability of clinical symptoms in a Polish family with a novel THAP1 mutation."
    Gajos A., Golanska E., Sieruta M., Szybka M., Liberski P.P., Bogucki A.
    Int. J. Neurosci. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DYT6 GLY-56.

Entry informationi

Entry nameiTHAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9NVV9
Secondary accession number(s): A6NCB6
, D3DSY5, H9KV49, Q53FQ1, Q6IA99
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 1, 2000
Last modified: June 24, 2015
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.