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Q9NVV9

- THAP1_HUMAN

UniProt

Q9NVV9 - THAP1_HUMAN

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
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    2. sequence-specific DNA binding Source: UniProtKB
    3. 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

    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
    2. PML body Source: UniProtKB-SubCell

    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. 1 Publication
    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. 1 Publication
    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. 1 Publication
    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. 1 Publication
    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

    ArrayExpressiQ9NVV9.
    BgeeiQ9NVV9.
    CleanExiHS_THAP1.
    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. 19 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.
    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

    MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY    50
    SSICSEHFTP DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL 100
    PPPPLPPPVS QVDAAIGLLM PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH 150
    QLEQQVEKLR KKLKTAQQRC RRQERQLEKL KEVVHFQKEK DDVSERGYVI 200
    LPNDYFEIVE VPA 213
    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. 19 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.
    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

    ArrayExpressi Q9NVV9.
    Bgeei Q9NVV9.
    CleanExi HS_THAP1.
    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

    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 1, 2014
    This is version 111 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