Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

THAP domain-containing protein 1

Gene

THAP1

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

Functioni

DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1 – 81THAP-typePROSITE-ProRule annotationAdd BLAST81

GO - Molecular functioni

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

GO - Biological processi

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

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131931-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
THAP domain-containing protein 1
Gene namesi
Name:THAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:20856. THAP1.

Subcellular locationi

GO - Cellular componenti

  • intracellular membrane-bounded organelle Source: HPA
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
  • PML body Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Dystonia 6, torsion (DYT6)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
See also OMIM:602629
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0666776S → F in DYT6. 1 Publication1
Natural variantiVAR_0666786S → P in DYT6. 1 Publication1
Natural variantiVAR_0673567A → D in DYT6. 1 Publication1
Natural variantiVAR_0666798Y → C in DYT6. 1 Publication1
Natural variantiVAR_0666809G → C in DYT6. 1 PublicationCorresponds to variant rs267607112dbSNPEnsembl.1
Natural variantiVAR_06588012N → K in DYT6. 1 Publication1
Natural variantiVAR_06668113R → H in DYT6. 1 Publication1
Natural variantiVAR_06668216K → E in DYT6; lower activity than wild-type. 2 Publications1
Natural variantiVAR_06668317D → G in DYT6. 1 PublicationCorresponds to variant rs766483829dbSNPEnsembl.1
Natural variantiVAR_06735721S → C in DYT6. 1 Publication1
Natural variantiVAR_06588121S → T in DYT6. 1 Publication1
Natural variantiVAR_06668423H → P in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant rs387907177dbSNPEnsembl.1
Natural variantiVAR_06668524K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant rs387907176dbSNPEnsembl.1
Natural variantiVAR_06668626P → L in DYT6; lower activity than wild-type. 1 Publication1
Natural variantiVAR_06668726P → R in DYT6. 1 Publication1
Natural variantiVAR_06588229R → P in DYT6. 1 Publication1
Natural variantiVAR_06668829R → Q in DYT6. 2 PublicationsCorresponds to variant rs767952378dbSNPEnsembl.1
Natural variantiVAR_06668930P → R in DYT6. 1 Publication1
Natural variantiVAR_06669032L → H in DYT6; lower activity than wild-type. 1 Publication1
Natural variantiVAR_06588339A → T in DYT6. 1 Publication1
Natural variantiVAR_06669154C → F in DYT6. 1 Publication1
Natural variantiVAR_07227256E → G in DYT6. 1 Publication1
Natural variantiVAR_06669257H → N in DYT6. 1 Publication1
Natural variantiVAR_06588459T → I in DYT6. 1 Publication1
Natural variantiVAR_06669369Missing in DYT6. 2 Publications1
Natural variantiVAR_06669472L → R in DYT6. 1 Publication1
Natural variantiVAR_06669575N → I in DYT6. 2 Publications1
Natural variantiVAR_06669680I → V in DYT6; mild phenotype; does not affect activity. 2 PublicationsCorresponds to variant rs372080941dbSNPEnsembl.1
Natural variantiVAR_05478881F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant rs118204013dbSNPEnsembl.1
Natural variantiVAR_06669783C → R in DYT6. 1 PublicationCorresponds to variant rs768017019dbSNPEnsembl.1
Natural variantiVAR_06588589K → R in DYT6. 2 PublicationsCorresponds to variant rs267607111dbSNPEnsembl.1
Natural variantiVAR_066698132F → S in DYT6. 1 Publication1
Natural variantiVAR_065886136N → K in DYT6. 1 Publication1
Natural variantiVAR_066699136N → S in DYT6. 1 PublicationCorresponds to variant rs769988455dbSNPEnsembl.1
Natural variantiVAR_066700137Y → C in DYT6. 1 Publication1
Natural variantiVAR_066701143M → V in DYT6. 1 PublicationCorresponds to variant rs374512193dbSNPEnsembl.1
Natural variantiVAR_066702149I → T in DYT6. 2 Publications1
Natural variantiVAR_066703150H → P in DYT6. 2 Publications1
Natural variantiVAR_066704166A → T in DYT6. 1 PublicationCorresponds to variant rs138918468dbSNPEnsembl.1
Natural variantiVAR_066705169R → Q in DYT6. 1 PublicationCorresponds to variant rs767519301dbSNPEnsembl.1
Natural variantiVAR_065887170C → R in DYT6. 1 Publication1
Natural variantiVAR_066706174E → G in DYT6. 1 PublicationCorresponds to variant rs759392096dbSNPEnsembl.1
Natural variantiVAR_066707180L → S in DYT6. 1 Publication1
Natural variantiVAR_066708187Q → K in DYT6. 1 Publication1
Natural variantiVAR_066709192D → N in DYT6. 1 PublicationCorresponds to variant rs377725442dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi4S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi5C → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi6S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi8Y → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi10C → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi11K → A: Partially affects DNA-binding. 1 Publication1
Mutagenesisi16K → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi24K → A: Strongly affects DNA-binding. 1 Publication1
Mutagenesisi26P → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi27L → A: Partially affects DNA-binding. 1 Publication1
Mutagenesisi28 – 30TRP → AAA: Strongly affects DNA-binding. 3
Mutagenesisi28T → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi29R → A: Strongly affects DNA-binding. 1 Publication1
Mutagenesisi30P → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi31S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi32L → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi33C → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi34K → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi35E → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi36W → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi37E → A: Partially affects DNA-binding. 1 Publication1
Mutagenesisi40V → A: Partially affects DNA-binding. 1 Publication1
Mutagenesisi41 – 43RRK → AAA: Strongly affects DNA-binding. 3
Mutagenesisi41R → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi42R → A: Strongly affects DNA-binding. 1 Publication1
Mutagenesisi43K → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi44N → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi45F → A: Strongly affects DNA-binding. 1 Publication1
Mutagenesisi46K → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi47 – 49PTK → AAA: Strongly affects DNA-binding. 3
Mutagenesisi47P → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi48T → A: Strongly affects DNA-binding. 1 Publication1
Mutagenesisi49K → A: Does not affect DNA-binding. 1
Mutagenesisi50 – 52YSS → AAA: Strongly affects DNA-binding. 3
Mutagenesisi50Y → A: Partially affects DNA-binding. 1 Publication1
Mutagenesisi51S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi52S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi54C → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi55S → A: Does not affect DNA-binding. 1 Publication1
Mutagenesisi57H → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi58F → A: Abolishes DNA- and zinc-binding. 2 Publications1
Mutagenesisi78P → A: Abolishes DNA- and zinc-binding. 2 Publications1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi55145.
MalaCardsiTHAP1.
MIMi602629. phenotype.
OpenTargetsiENSG00000131931.
Orphaneti98806. Primary dystonia, DYT6 type.
PharmGKBiPA134920361.

Polymorphism and mutation databases

BioMutaiTHAP1.
DMDMi29839656.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000686371 – 213THAP domain-containing protein 1Add BLAST213

Proteomic databases

EPDiQ9NVV9.
MaxQBiQ9NVV9.
PaxDbiQ9NVV9.
PeptideAtlasiQ9NVV9.
PRIDEiQ9NVV9.

PTM databases

iPTMnetiQ9NVV9.
PhosphoSitePlusiQ9NVV9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000131931.
CleanExiHS_THAP1.
ExpressionAtlasiQ9NVV9. baseline and differential.
GenevisibleiQ9NVV9. HS.

Organism-specific databases

HPAiHPA071310.

Interactioni

Subunit structurei

Interacts with PAWR. Component of a THAP1/THAP3-HCFC1-OGT complex that contains, either THAP1 or THAP3, HCFC1 and OGT. Interacts with OGT. Interacts (via the HBM) with HCFC1 (via the Kelch-repeat domain); the interaction recruits HCFC1 to the RRM1 promoter.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself5EBI-741515,EBI-741515
ACOT7O001543EBI-741515,EBI-948905
AKAP17AQ02040-33EBI-741515,EBI-10222656
AKAP9Q99996-23EBI-741515,EBI-9641546
AP2B1P630104EBI-741515,EBI-432924
ARL6IP4Q66PJ3-33EBI-741515,EBI-10248982
BAG5Q9UL155EBI-741515,EBI-356517
BYSLQ138957EBI-741515,EBI-358049
C11orf57Q6ZUT15EBI-741515,EBI-3920396
C11orf57Q6ZUT1-23EBI-741515,EBI-10180231
C7orf50Q9BRJ63EBI-741515,EBI-751612
CHD2O146473EBI-741515,EBI-1210503
CSNK2A1P684003EBI-741515,EBI-347804
DCAF8Q5TAQ93EBI-741515,EBI-740686
FAM124AQ86V423EBI-741515,EBI-744506
FAM133AQ8N9E05EBI-741515,EBI-10268158
GPATCH2LQ9NWQ43EBI-741515,EBI-5666657
hCG_1744368A0A024RA765EBI-741515,EBI-10180729
hCG_2003792A0A024R5S05EBI-741515,EBI-10188461
HNRNPLLQ8WVV93EBI-741515,EBI-535849
KLF12Q9Y4X43EBI-741515,EBI-750750
KRTAP10-7P604093EBI-741515,EBI-10172290
LASP1Q148473EBI-741515,EBI-742828
METTL13Q8N6R03EBI-741515,EBI-1053295
MMTAG2Q9BU766EBI-741515,EBI-742459
MORF4L1Q9UBU83EBI-741515,EBI-399246
MORF4L2Q150143EBI-741515,EBI-399257
MRPL11Q9Y3B73EBI-741515,EBI-5453723
NUP62P371988EBI-741515,EBI-347978
PHF1O431893EBI-741515,EBI-530034
PID1Q7Z2X43EBI-741515,EBI-10256685
POLR2LP628753EBI-741515,EBI-359527
PPIGQ134273EBI-741515,EBI-396072
PRKAA1Q131313EBI-741515,EBI-1181405
PRR20CP864795EBI-741515,EBI-10172814
RALYLQ86SE54EBI-741515,EBI-741520
RBM39Q144985EBI-741515,EBI-395290
RIPPLY1Q0D2K35EBI-741515,EBI-10226430
RPS25P628513EBI-741515,EBI-353054
SAP30BPQ9UHR53EBI-741515,EBI-751683
SLU7O953913EBI-741515,EBI-750559
STRBPQ96SI96EBI-741515,EBI-740355
TCEA2Q155605EBI-741515,EBI-710310
TPM3Q5VU623EBI-741515,EBI-10184033
TRAF5O004635EBI-741515,EBI-523498
TRIM26Q128995EBI-741515,EBI-2341136
TTLL10Q6ZVT03EBI-741515,EBI-7844656
U2AF2P263684EBI-741515,EBI-742339
WDYHV1Q96HA86EBI-741515,EBI-741158
YES1P079473EBI-741515,EBI-515331
ZCCHC10Q8TBK66EBI-741515,EBI-597063
ZNF385CQ66K413EBI-741515,EBI-10219231
ZNF408Q9H9D45EBI-741515,EBI-347633

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi120448. 68 interactors.
IntActiQ9NVV9. 87 interactors.
MINTiMINT-1434025.
STRINGi9606.ENSP00000254250.

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6 – 9Combined sources4
Beta strandi16 – 18Combined sources3
Beta strandi22 – 24Combined sources3
Helixi33 – 40Combined sources8
Beta strandi42 – 44Combined sources3
Turni47 – 49Combined sources3
Beta strandi51 – 54Combined sources4
Helixi55 – 57Combined sources3
Helixi60 – 63Combined sources4
Beta strandi67 – 71Combined sources5
Helixi79 – 81Combined sources3

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ9NVV9.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili139 – 190Sequence analysisAdd BLAST52

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi134 – 137HCFC1-binding motif (HBM)4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi96 – 108Pro-richAdd BLAST13

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1 – 81THAP-typePROSITE-ProRule annotationAdd BLAST81

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IGDI. Eukaryota.
ENOG4111FGC. LUCA.
GeneTreeiENSGT00840000129785.
HOGENOMiHOG000231117.
HOVERGENiHBG057457.
InParanoidiQ9NVV9.
OMAiSCDHNYT.
OrthoDBiEOG091G034R.
PhylomeDBiQ9NVV9.
TreeFamiTF330127.

Family and domain databases

InterProiIPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]
PANTHERiPTHR23080:SF85. PTHR23080:SF85. 1 hit.
PfamiPF05485. THAP. 1 hit.
[Graphical view]
SMARTiSM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]
PROSITEiPS50950. ZF_THAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

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

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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti171R → G in CAG33537 (Ref. 2) Curated1
Sequence conflicti213A → T in BAD96951 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0666776S → F in DYT6. 1 Publication1
Natural variantiVAR_0666786S → P in DYT6. 1 Publication1
Natural variantiVAR_0673567A → D in DYT6. 1 Publication1
Natural variantiVAR_0666798Y → C in DYT6. 1 Publication1
Natural variantiVAR_0666809G → C in DYT6. 1 PublicationCorresponds to variant rs267607112dbSNPEnsembl.1
Natural variantiVAR_06588012N → K in DYT6. 1 Publication1
Natural variantiVAR_06668113R → H in DYT6. 1 Publication1
Natural variantiVAR_06668216K → E in DYT6; lower activity than wild-type. 2 Publications1
Natural variantiVAR_06668317D → G in DYT6. 1 PublicationCorresponds to variant rs766483829dbSNPEnsembl.1
Natural variantiVAR_06735721S → C in DYT6. 1 Publication1
Natural variantiVAR_06588121S → T in DYT6. 1 Publication1
Natural variantiVAR_06668423H → P in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant rs387907177dbSNPEnsembl.1
Natural variantiVAR_06668524K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant rs387907176dbSNPEnsembl.1
Natural variantiVAR_06668626P → L in DYT6; lower activity than wild-type. 1 Publication1
Natural variantiVAR_06668726P → R in DYT6. 1 Publication1
Natural variantiVAR_06588229R → P in DYT6. 1 Publication1
Natural variantiVAR_06668829R → Q in DYT6. 2 PublicationsCorresponds to variant rs767952378dbSNPEnsembl.1
Natural variantiVAR_06668930P → R in DYT6. 1 Publication1
Natural variantiVAR_06669032L → H in DYT6; lower activity than wild-type. 1 Publication1
Natural variantiVAR_06588339A → T in DYT6. 1 Publication1
Natural variantiVAR_06669154C → F in DYT6. 1 Publication1
Natural variantiVAR_07227256E → G in DYT6. 1 Publication1
Natural variantiVAR_06669257H → N in DYT6. 1 Publication1
Natural variantiVAR_06588459T → I in DYT6. 1 Publication1
Natural variantiVAR_06669369Missing in DYT6. 2 Publications1
Natural variantiVAR_06669472L → R in DYT6. 1 Publication1
Natural variantiVAR_06669575N → I in DYT6. 2 Publications1
Natural variantiVAR_06669680I → V in DYT6; mild phenotype; does not affect activity. 2 PublicationsCorresponds to variant rs372080941dbSNPEnsembl.1
Natural variantiVAR_05478881F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant rs118204013dbSNPEnsembl.1
Natural variantiVAR_06669783C → R in DYT6. 1 PublicationCorresponds to variant rs768017019dbSNPEnsembl.1
Natural variantiVAR_06588589K → R in DYT6. 2 PublicationsCorresponds to variant rs267607111dbSNPEnsembl.1
Natural variantiVAR_066698132F → S in DYT6. 1 Publication1
Natural variantiVAR_065886136N → K in DYT6. 1 Publication1
Natural variantiVAR_066699136N → S in DYT6. 1 PublicationCorresponds to variant rs769988455dbSNPEnsembl.1
Natural variantiVAR_066700137Y → C in DYT6. 1 Publication1
Natural variantiVAR_066701143M → V in DYT6. 1 PublicationCorresponds to variant rs374512193dbSNPEnsembl.1
Natural variantiVAR_066702149I → T in DYT6. 2 Publications1
Natural variantiVAR_066703150H → P in DYT6. 2 Publications1
Natural variantiVAR_066704166A → T in DYT6. 1 PublicationCorresponds to variant rs138918468dbSNPEnsembl.1
Natural variantiVAR_066705169R → Q in DYT6. 1 PublicationCorresponds to variant rs767519301dbSNPEnsembl.1
Natural variantiVAR_065887170C → R in DYT6. 1 Publication1
Natural variantiVAR_066706174E → G in DYT6. 1 PublicationCorresponds to variant rs759392096dbSNPEnsembl.1
Natural variantiVAR_066707180L → S in DYT6. 1 Publication1
Natural variantiVAR_066708187Q → K in DYT6. 1 Publication1
Natural variantiVAR_066709192D → N in DYT6. 1 PublicationCorresponds to variant rs377725442dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04466525 – 53FPLTR…KYSSI → KKIFWSHRNSFPHLLYRLLF PRLMLLLDY in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_04466654 – 213Missing in isoform 2. 1 PublicationAdd BLAST160

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001339 mRNA. Translation: BAA91635.1.
CR457256 mRNA. Translation: CAG33537.1.
AK223231 mRNA. Translation: BAD96951.1.
AL832077 mRNA. No translation available.
AC087533 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63205.1.
CH471080 Genomic DNA. Translation: EAW63206.1.
BC021721 mRNA. Translation: AAH21721.1.
CCDSiCCDS6136.1. [Q9NVV9-1]
CCDS6137.1. [Q9NVV9-2]
RefSeqiNP_060575.1. NM_018105.2. [Q9NVV9-1]
NP_945354.1. NM_199003.1. [Q9NVV9-2]
UniGeneiHs.7432.

Genome annotation databases

EnsembliENST00000254250; ENSP00000254250; ENSG00000131931. [Q9NVV9-1]
ENST00000345117; ENSP00000344966; ENSG00000131931. [Q9NVV9-2]
GeneIDi55145.
KEGGihsa:55145.
UCSCiuc003xpk.4. human. [Q9NVV9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001339 mRNA. Translation: BAA91635.1.
CR457256 mRNA. Translation: CAG33537.1.
AK223231 mRNA. Translation: BAD96951.1.
AL832077 mRNA. No translation available.
AC087533 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63205.1.
CH471080 Genomic DNA. Translation: EAW63206.1.
BC021721 mRNA. Translation: AAH21721.1.
CCDSiCCDS6136.1. [Q9NVV9-1]
CCDS6137.1. [Q9NVV9-2]
RefSeqiNP_060575.1. NM_018105.2. [Q9NVV9-1]
NP_945354.1. NM_199003.1. [Q9NVV9-2]
UniGeneiHs.7432.

3D structure databases

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

Protein-protein interaction databases

BioGridi120448. 68 interactors.
IntActiQ9NVV9. 87 interactors.
MINTiMINT-1434025.
STRINGi9606.ENSP00000254250.

PTM databases

iPTMnetiQ9NVV9.
PhosphoSitePlusiQ9NVV9.

Polymorphism and mutation databases

BioMutaiTHAP1.
DMDMi29839656.

Proteomic databases

EPDiQ9NVV9.
MaxQBiQ9NVV9.
PaxDbiQ9NVV9.
PeptideAtlasiQ9NVV9.
PRIDEiQ9NVV9.

Protocols and materials databases

DNASUi55145.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254250; ENSP00000254250; ENSG00000131931. [Q9NVV9-1]
ENST00000345117; ENSP00000344966; ENSG00000131931. [Q9NVV9-2]
GeneIDi55145.
KEGGihsa:55145.
UCSCiuc003xpk.4. human. [Q9NVV9-1]

Organism-specific databases

CTDi55145.
DisGeNETi55145.
GeneCardsiTHAP1.
HGNCiHGNC:20856. THAP1.
HPAiHPA071310.
MalaCardsiTHAP1.
MIMi602629. phenotype.
609520. gene.
neXtProtiNX_Q9NVV9.
OpenTargetsiENSG00000131931.
Orphaneti98806. Primary dystonia, DYT6 type.
PharmGKBiPA134920361.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGDI. Eukaryota.
ENOG4111FGC. LUCA.
GeneTreeiENSGT00840000129785.
HOGENOMiHOG000231117.
HOVERGENiHBG057457.
InParanoidiQ9NVV9.
OMAiSCDHNYT.
OrthoDBiEOG091G034R.
PhylomeDBiQ9NVV9.
TreeFamiTF330127.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131931-MONOMER.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000131931.
CleanExiHS_THAP1.
ExpressionAtlasiQ9NVV9. baseline and differential.
GenevisibleiQ9NVV9. HS.

Family and domain databases

InterProiIPR026516. THAP1.
IPR006612. Znf_C2CH.
[Graphical view]
PANTHERiPTHR23080:SF85. PTHR23080:SF85. 1 hit.
PfamiPF05485. THAP. 1 hit.
[Graphical view]
SMARTiSM00692. DM3. 1 hit.
SM00980. THAP. 1 hit.
[Graphical view]
PROSITEiPS50950. ZF_THAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 134 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

Similar proteinsi

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