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Q9NVV9

- THAP1_HUMAN

UniProt

Q9NVV9 - THAP1_HUMAN

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Protein

THAP domain-containing protein 1

Gene

THAP1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. sequence-specific DNA binding Source: UniProtKB
  2. zinc ion binding Source: UniProtKB

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. endothelial cell proliferation Source: UniProtKB
  3. regulation of mitotic cell cycle Source: UniProtKB
  4. regulation of transcription, DNA-templated Source: UniProtKB
  5. 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: Chromosome 8

Organism-specific databases

HGNCiHGNC:20856. THAP1.

Subcellular locationi

Nucleusnucleoplasm 1 Publication. NucleusPML body 1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.18 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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 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.

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.
GenevestigatoriQ9NVV9.

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

Protein-protein interaction databases

BioGridi120448. 21 interactions.
IntActiQ9NVV9. 19 interactions.
MINTiMINT-1434025.
STRINGi9606.ENSP00000254250.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
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.
GeneTreeiENSGT00530000063253.
HOGENOMiHOG000231117.
HOVERGENiHBG057457.
InParanoidiQ9NVV9.
OMAiDLCKKWE.
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. Align

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. 1 PublicationCurated
Sequence conflicti213 – 2131A → T in BAD96951. 1 PublicationCurated

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 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:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi29839656.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6136.1. [Q9NVV9-1 ]
CCDS6137.1. [Q9NVV9-2 ]
RefSeqi NP_060575.1. NM_018105.2. [Q9NVV9-1 ]
NP_945354.1. NM_199003.1. [Q9NVV9-2 ]
UniGenei Hs.7432.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2JTG NMR - A 1-81 [» ]
2KO0 NMR - A 1-82 [» ]
2L1G NMR - A 1-82 [» ]
ProteinModelPortali Q9NVV9.
SMRi Q9NVV9. Positions 1-86.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120448. 21 interactions.
IntActi Q9NVV9. 19 interactions.
MINTi MINT-1434025.
STRINGi 9606.ENSP00000254250.

Polymorphism databases

DMDMi 29839656.

Proteomic databases

MaxQBi Q9NVV9.
PaxDbi Q9NVV9.
PRIDEi Q9NVV9.

Protocols and materials databases

DNASUi 55145.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000254250 ; ENSP00000254250 ; ENSG00000131931 . [Q9NVV9-1 ]
ENST00000345117 ; ENSP00000344966 ; ENSG00000131931 . [Q9NVV9-2 ]
GeneIDi 55145.
KEGGi hsa:55145.
UCSCi uc003xpk.3. human. [Q9NVV9-1 ]

Organism-specific databases

CTDi 55145.
GeneCardsi GC08M042691.
HGNCi HGNC:20856. THAP1.
MIMi 602629. phenotype.
609520. gene.
neXtProti NX_Q9NVV9.
Orphaneti 98806. Primary dystonia, DYT6 type.
PharmGKBi PA134920361.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84669.
GeneTreei ENSGT00530000063253.
HOGENOMi HOG000231117.
HOVERGENi HBG057457.
InParanoidi Q9NVV9.
OMAi DLCKKWE.
OrthoDBi EOG7QVM4D.
PhylomeDBi Q9NVV9.
TreeFami TF330127.

Miscellaneous databases

EvolutionaryTracei Q9NVV9.
GeneWikii THAP1.
GenomeRNAii 55145.
NextBioi 58852.
PROi Q9NVV9.
SOURCEi Search...

Gene expression databases

Bgeei Q9NVV9.
CleanExi HS_THAP1.
ExpressionAtlasi Q9NVV9. baseline and differential.
Genevestigatori Q9NVV9.

Family and domain databases

InterProi IPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view ]
PANTHERi PTHR23080:SF11. PTHR23080:SF11. 1 hit.
Pfami PF05485. THAP. 1 hit.
[Graphical view ]
SMARTi SM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view ]
PROSITEi PS50950. ZF_THAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: October 29, 2014
This is version 112 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

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