UniProtKB - Q9NVV9 (THAP1_HUMAN)
THAP domain-containing protein 1
THAP1
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 1 – 81 | THAP-typePROSITE-ProRule annotationAdd BLAST | 81 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- zinc ion binding Source: UniProtKB
GO - Biological processi
- cell cycle Source: UniProtKB-KW
- endothelial cell proliferation Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of mitotic cell cycle Source: UniProtKB
- regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription, DNA-templated Source: UniProtKB
Keywordsi
Molecular function | DNA-binding |
Biological process | Cell cycle, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9NVV9 |
Names & Taxonomyi
Protein namesi | Recommended name: THAP domain-containing protein 1 |
Gene namesi | Name:THAP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000131931.8 |
HGNCi | HGNC:20856, THAP1 |
MIMi | 609520, gene |
neXtProti | NX_Q9NVV9 |
Subcellular locationi
Nucleus
- nucleoplasm 1 Publication
- PML body 1 Publication
Nucleus
- fibrillar center Source: HPA
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- PML body Source: UniProtKB-SubCell
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Dystonia 6, torsion (DYT6)20 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066677 | 6 | S → F in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066678 | 6 | S → P in DYT6. 1 Publication | 1 | |
Natural variantiVAR_067356 | 7 | A → D in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066679 | 8 | Y → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066680 | 9 | G → C in DYT6. 1 PublicationCorresponds to variant dbSNP:rs267607112EnsemblClinVar. | 1 | |
Natural variantiVAR_065880 | 12 | N → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066681 | 13 | R → H in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066682 | 16 | K → E in DYT6; lower activity than wild-type. 2 Publications | 1 | |
Natural variantiVAR_066683 | 17 | D → G in DYT6. 1 PublicationCorresponds to variant dbSNP:rs766483829Ensembl. | 1 | |
Natural variantiVAR_067357 | 21 | S → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065881 | 21 | S → T in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066684 | 23 | H → P in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907177EnsemblClinVar. | 1 | |
Natural variantiVAR_066685 | 24 | K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907176EnsemblClinVar. | 1 | |
Natural variantiVAR_066686 | 26 | P → L in DYT6; lower activity than wild-type. 1 Publication | 1 | |
Natural variantiVAR_066687 | 26 | P → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065882 | 29 | R → P in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066688 | 29 | R → Q in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs767952378Ensembl. | 1 | |
Natural variantiVAR_066689 | 30 | P → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066690 | 32 | L → H in DYT6; lower activity than wild-type. 1 Publication | 1 | |
Natural variantiVAR_065883 | 39 | A → T in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066691 | 54 | C → F in DYT6. 1 Publication | 1 | |
Natural variantiVAR_072272 | 56 | E → G in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066692 | 57 | H → N in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065884 | 59 | T → I in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066693 | 69 | Missing in DYT6. 2 Publications | 1 | |
Natural variantiVAR_066694 | 72 | L → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066695 | 75 | N → I in DYT6. 2 Publications | 1 | |
Natural variantiVAR_066696 | 80 | I → V in DYT6; mild phenotype; does not affect activity. 2 PublicationsCorresponds to variant dbSNP:rs372080941EnsemblClinVar. | 1 | |
Natural variantiVAR_054788 | 81 | F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204013EnsemblClinVar. | 1 | |
Natural variantiVAR_066697 | 83 | C → R in DYT6. 1 PublicationCorresponds to variant dbSNP:rs768017019Ensembl. | 1 | |
Natural variantiVAR_065885 | 89 | K → R in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs267607111EnsemblClinVar. | 1 | |
Natural variantiVAR_066698 | 132 | F → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs950435041Ensembl. | 1 | |
Natural variantiVAR_065886 | 136 | N → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066699 | 136 | N → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs769988455Ensembl. | 1 | |
Natural variantiVAR_066700 | 137 | Y → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066701 | 143 | M → V in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs374512193EnsemblClinVar. | 1 | |
Natural variantiVAR_066702 | 149 | I → T in DYT6; no effect on dimerization. 3 Publications | 1 | |
Natural variantiVAR_066703 | 150 | H → P in DYT6; no effect on dimerization. 3 Publications | 1 | |
Natural variantiVAR_066704 | 166 | A → T in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs138918468Ensembl. | 1 | |
Natural variantiVAR_066705 | 169 | R → Q in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs767519301EnsemblClinVar. | 1 | |
Natural variantiVAR_065887 | 170 | C → R in DYT6; no effect on dimerization. 2 Publications | 1 | |
Natural variantiVAR_066706 | 174 | E → G in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs759392096Ensembl. | 1 | |
Natural variantiVAR_079366 | 177 | L → P in DYT6; no effect on dimerization. 1 Publication | 1 | |
Natural variantiVAR_066707 | 180 | L → S in DYT6; no effect on dimerization. 2 Publications | 1 | |
Natural variantiVAR_066708 | 187 | Q → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066709 | 192 | D → N in DYT6. 1 PublicationCorresponds to variant dbSNP:rs377725442EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 4 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 5 | C → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 6 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 8 | Y → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 10 | C → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 11 | K → A: Partially affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 16 | K → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 24 | K → A: Strongly affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 26 | P → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 27 | L → A: Partially affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 28 – 30 | TRP → AAA: Strongly affects DNA-binding. | 3 | |
Mutagenesisi | 28 | T → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 29 | R → A: Strongly affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 30 | P → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 31 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 32 | L → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 33 | C → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 34 | K → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 35 | E → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 36 | W → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 37 | E → A: Partially affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 40 | V → A: Partially affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 41 – 43 | RRK → AAA: Strongly affects DNA-binding. | 3 | |
Mutagenesisi | 41 | R → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 42 | R → A: Strongly affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 43 | K → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 44 | N → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 45 | F → A: Strongly affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 46 | K → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 47 – 49 | PTK → AAA: Strongly affects DNA-binding. | 3 | |
Mutagenesisi | 47 | P → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 48 | T → A: Strongly affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 49 | K → A: Does not affect DNA-binding. | 1 | |
Mutagenesisi | 50 – 52 | YSS → AAA: Strongly affects DNA-binding. | 3 | |
Mutagenesisi | 50 | Y → A: Partially affects DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 51 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 52 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 54 | C → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 55 | S → A: Does not affect DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 57 | H → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 58 | F → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 | |
Mutagenesisi | 78 | P → A: Abolishes DNA- and zinc-binding. 2 Publications | 1 |
Keywords - Diseasei
Disease mutation, DystoniaOrganism-specific databases
DisGeNETi | 55145 |
MalaCardsi | THAP1 |
MIMi | 602629, phenotype |
OpenTargetsi | ENSG00000131931 |
Orphaneti | 98806, Primary dystonia, DYT6 type |
PharmGKBi | PA134920361 |
Miscellaneous databases
Pharosi | Q9NVV9, Tbio |
Chemistry databases
DrugCentrali | Q9NVV9 |
Polymorphism and mutation databases
BioMutai | THAP1 |
DMDMi | 29839656 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000068637 | 1 – 213 | THAP domain-containing protein 1Add BLAST | 213 |
Proteomic databases
EPDi | Q9NVV9 |
MassIVEi | Q9NVV9 |
MaxQBi | Q9NVV9 |
PaxDbi | Q9NVV9 |
PeptideAtlasi | Q9NVV9 |
PRIDEi | Q9NVV9 |
ProteomicsDBi | 46208 82871 [Q9NVV9-1] |
PTM databases
iPTMneti | Q9NVV9 |
PhosphoSitePlusi | Q9NVV9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000131931, Expressed in forebrain and 211 other tissues |
ExpressionAtlasi | Q9NVV9, baseline and differential |
Genevisiblei | Q9NVV9, HS |
Organism-specific databases
HPAi | ENSG00000131931, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (PubMed:28299530).
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 (PubMed:12717420, PubMed:20144952, PubMed:20200153).
4 PublicationsBinary interactionsi
Q9NVV9
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120448, 123 interactors |
ELMi | Q9NVV9 |
IntActi | Q9NVV9, 105 interactors |
MINTi | Q9NVV9 |
STRINGi | 9606.ENSP00000254250 |
Miscellaneous databases
RNActi | Q9NVV9, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9NVV9 |
SMRi | Q9NVV9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9NVV9 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 139 – 185 | Involved in homodimer formation1 PublicationAdd BLAST | 47 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 139 – 190 | Sequence analysisAdd BLAST | 52 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 134 – 137 | HCFC1-binding motif (HBM) | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 96 – 108 | Pro-richAdd BLAST | 13 |
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 1 – 81 | THAP-typePROSITE-ProRule annotationAdd BLAST | 81 |
Keywords - Domaini
Coiled coil, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159383 |
HOGENOMi | CLU_076186_2_1_1 |
InParanoidi | Q9NVV9 |
OMAi | LMPPLHT |
OrthoDBi | 1382095at2759 |
PhylomeDBi | Q9NVV9 |
TreeFami | TF330127 |
Family and domain databases
Gene3Di | 3.30.40.180, 1 hit |
InterProi | View protein in InterPro IPR026516, THAP1 IPR043564, THAP1/10 IPR006612, THAP_Znf IPR038441, THAP_Znf_sf |
PANTHERi | PTHR46600, PTHR46600, 1 hit PTHR46600:SF1, PTHR46600:SF1, 1 hit |
Pfami | View protein in Pfam PF05485, THAP, 1 hit |
SMARTi | View protein in SMART SM00692, DM3, 1 hit SM00980, THAP, 1 hit |
PROSITEi | View protein in PROSITE PS50950, ZF_THAP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PIS9 | E9PIS9_HUMAN | THAP domain-containing protein 1 | THAP1 | 118 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 171 | R → G in CAG33537 (Ref. 2) Curated | 1 | |
Sequence conflicti | 213 | A → T in BAD96951 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066677 | 6 | S → F in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066678 | 6 | S → P in DYT6. 1 Publication | 1 | |
Natural variantiVAR_067356 | 7 | A → D in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066679 | 8 | Y → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066680 | 9 | G → C in DYT6. 1 PublicationCorresponds to variant dbSNP:rs267607112EnsemblClinVar. | 1 | |
Natural variantiVAR_065880 | 12 | N → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066681 | 13 | R → H in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066682 | 16 | K → E in DYT6; lower activity than wild-type. 2 Publications | 1 | |
Natural variantiVAR_066683 | 17 | D → G in DYT6. 1 PublicationCorresponds to variant dbSNP:rs766483829Ensembl. | 1 | |
Natural variantiVAR_067357 | 21 | S → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065881 | 21 | S → T in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066684 | 23 | H → P in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907177EnsemblClinVar. | 1 | |
Natural variantiVAR_066685 | 24 | K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907176EnsemblClinVar. | 1 | |
Natural variantiVAR_066686 | 26 | P → L in DYT6; lower activity than wild-type. 1 Publication | 1 | |
Natural variantiVAR_066687 | 26 | P → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065882 | 29 | R → P in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066688 | 29 | R → Q in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs767952378Ensembl. | 1 | |
Natural variantiVAR_066689 | 30 | P → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066690 | 32 | L → H in DYT6; lower activity than wild-type. 1 Publication | 1 | |
Natural variantiVAR_065883 | 39 | A → T in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066691 | 54 | C → F in DYT6. 1 Publication | 1 | |
Natural variantiVAR_072272 | 56 | E → G in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066692 | 57 | H → N in DYT6. 1 Publication | 1 | |
Natural variantiVAR_065884 | 59 | T → I in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066693 | 69 | Missing in DYT6. 2 Publications | 1 | |
Natural variantiVAR_066694 | 72 | L → R in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066695 | 75 | N → I in DYT6. 2 Publications | 1 | |
Natural variantiVAR_066696 | 80 | I → V in DYT6; mild phenotype; does not affect activity. 2 PublicationsCorresponds to variant dbSNP:rs372080941EnsemblClinVar. | 1 | |
Natural variantiVAR_054788 | 81 | F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204013EnsemblClinVar. | 1 | |
Natural variantiVAR_066697 | 83 | C → R in DYT6. 1 PublicationCorresponds to variant dbSNP:rs768017019Ensembl. | 1 | |
Natural variantiVAR_065885 | 89 | K → R in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs267607111EnsemblClinVar. | 1 | |
Natural variantiVAR_066698 | 132 | F → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs950435041Ensembl. | 1 | |
Natural variantiVAR_065886 | 136 | N → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066699 | 136 | N → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs769988455Ensembl. | 1 | |
Natural variantiVAR_066700 | 137 | Y → C in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066701 | 143 | M → V in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs374512193EnsemblClinVar. | 1 | |
Natural variantiVAR_066702 | 149 | I → T in DYT6; no effect on dimerization. 3 Publications | 1 | |
Natural variantiVAR_066703 | 150 | H → P in DYT6; no effect on dimerization. 3 Publications | 1 | |
Natural variantiVAR_066704 | 166 | A → T in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs138918468Ensembl. | 1 | |
Natural variantiVAR_066705 | 169 | R → Q in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs767519301EnsemblClinVar. | 1 | |
Natural variantiVAR_065887 | 170 | C → R in DYT6; no effect on dimerization. 2 Publications | 1 | |
Natural variantiVAR_066706 | 174 | E → G in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs759392096Ensembl. | 1 | |
Natural variantiVAR_079366 | 177 | L → P in DYT6; no effect on dimerization. 1 Publication | 1 | |
Natural variantiVAR_066707 | 180 | L → S in DYT6; no effect on dimerization. 2 Publications | 1 | |
Natural variantiVAR_066708 | 187 | Q → K in DYT6. 1 Publication | 1 | |
Natural variantiVAR_066709 | 192 | D → N in DYT6. 1 PublicationCorresponds to variant dbSNP:rs377725442EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044665 | 25 – 53 | FPLTR…KYSSI → KKIFWSHRNSFPHLLYRLLF PRLMLLLDY in isoform 2. 1 PublicationAdd BLAST | 29 | |
Alternative sequenceiVSP_044666 | 54 – 213 | Missing in isoform 2. 1 PublicationAdd BLAST | 160 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000254250; ENSP00000254250; ENSG00000131931 [Q9NVV9-1] ENST00000345117; ENSP00000344966; ENSG00000131931 [Q9NVV9-2] |
GeneIDi | 55145 |
KEGGi | hsa:55145 |
UCSCi | uc003xpk.4, human [Q9NVV9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2JTG | NMR | - | A | 1-81 | [»] | |
2KO0 | NMR | - | A | 1-82 | [»] | |
2L1G | NMR | - | A | 1-82 | [»] | |
BMRBi | Q9NVV9 | |||||
SMRi | Q9NVV9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120448, 123 interactors |
ELMi | Q9NVV9 |
IntActi | Q9NVV9, 105 interactors |
MINTi | Q9NVV9 |
STRINGi | 9606.ENSP00000254250 |
Chemistry databases
DrugCentrali | Q9NVV9 |
PTM databases
iPTMneti | Q9NVV9 |
PhosphoSitePlusi | Q9NVV9 |
Polymorphism and mutation databases
BioMutai | THAP1 |
DMDMi | 29839656 |
Proteomic databases
EPDi | Q9NVV9 |
MassIVEi | Q9NVV9 |
MaxQBi | Q9NVV9 |
PaxDbi | Q9NVV9 |
PeptideAtlasi | Q9NVV9 |
PRIDEi | Q9NVV9 |
ProteomicsDBi | 46208 82871 [Q9NVV9-1] |
Protocols and materials databases
ABCDi | Q9NVV9, 1 sequenced antibody |
Antibodypediai | 24159, 119 antibodies |
DNASUi | 55145 |
Genome annotation databases
Ensembli | ENST00000254250; ENSP00000254250; ENSG00000131931 [Q9NVV9-1] ENST00000345117; ENSP00000344966; ENSG00000131931 [Q9NVV9-2] |
GeneIDi | 55145 |
KEGGi | hsa:55145 |
UCSCi | uc003xpk.4, human [Q9NVV9-1] |
Organism-specific databases
CTDi | 55145 |
DisGeNETi | 55145 |
EuPathDBi | HostDB:ENSG00000131931.8 |
GeneCardsi | THAP1 |
HGNCi | HGNC:20856, THAP1 |
HPAi | ENSG00000131931, Low tissue specificity |
MalaCardsi | THAP1 |
MIMi | 602629, phenotype 609520, gene |
neXtProti | NX_Q9NVV9 |
OpenTargetsi | ENSG00000131931 |
Orphaneti | 98806, Primary dystonia, DYT6 type |
PharmGKBi | PA134920361 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159383 |
HOGENOMi | CLU_076186_2_1_1 |
InParanoidi | Q9NVV9 |
OMAi | LMPPLHT |
OrthoDBi | 1382095at2759 |
PhylomeDBi | Q9NVV9 |
TreeFami | TF330127 |
Enzyme and pathway databases
PathwayCommonsi | Q9NVV9 |
Miscellaneous databases
BioGRID-ORCSi | 55145, 628 hits in 871 CRISPR screens |
ChiTaRSi | THAP1, human |
EvolutionaryTracei | Q9NVV9 |
GeneWikii | THAP1 |
GenomeRNAii | 55145 |
Pharosi | Q9NVV9, Tbio |
PROi | PR:Q9NVV9 |
RNActi | Q9NVV9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131931, Expressed in forebrain and 211 other tissues |
ExpressionAtlasi | Q9NVV9, baseline and differential |
Genevisiblei | Q9NVV9, HS |
Family and domain databases
Gene3Di | 3.30.40.180, 1 hit |
InterProi | View protein in InterPro IPR026516, THAP1 IPR043564, THAP1/10 IPR006612, THAP_Znf IPR038441, THAP_Znf_sf |
PANTHERi | PTHR46600, PTHR46600, 1 hit PTHR46600:SF1, PTHR46600:SF1, 1 hit |
Pfami | View protein in Pfam PF05485, THAP, 1 hit |
SMARTi | View protein in SMART SM00692, DM3, 1 hit SM00980, THAP, 1 hit |
PROSITEi | View protein in PROSITE PS50950, ZF_THAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | THAP1_HUMAN | |
Accessioni | Q9NVV9Primary (citable) accession number: Q9NVV9 Secondary accession number(s): A6NCB6 Q6IA99 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 11, 2003 |
Last sequence update: | October 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations