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UniProtKB - Q9NVV9 (THAP1_HUMAN)

Protein

THAP domain-containing protein 1

Gene

THAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processCell cycle, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
THAP domain-containing protein 1
Gene namesi
Name:THAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000131931.8
HGNCiHGNC:20856 THAP1
MIMi609520 gene
neXtProtiNX_Q9NVV9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Dystonia 6, torsion (DYT6)20 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 dbSNP:rs267607112EnsemblClinVar.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 dbSNP:rs766483829Ensembl.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 dbSNP:rs387907177EnsemblClinVar.1
Natural variantiVAR_06668524K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907176EnsemblClinVar.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 dbSNP:rs767952378Ensembl.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 dbSNP:rs372080941EnsemblClinVar.1
Natural variantiVAR_05478881F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204013EnsemblClinVar.1
Natural variantiVAR_06669783C → R in DYT6. 1 PublicationCorresponds to variant dbSNP:rs768017019Ensembl.1
Natural variantiVAR_06588589K → R in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs267607111EnsemblClinVar.1
Natural variantiVAR_066698132F → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs950435041Ensembl.1
Natural variantiVAR_065886136N → K in DYT6. 1 Publication1
Natural variantiVAR_066699136N → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs769988455Ensembl.1
Natural variantiVAR_066700137Y → C in DYT6. 1 Publication1
Natural variantiVAR_066701143M → V in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs374512193EnsemblClinVar.1
Natural variantiVAR_066702149I → T in DYT6; no effect on dimerization. 3 Publications1
Natural variantiVAR_066703150H → P in DYT6; no effect on dimerization. 3 Publications1
Natural variantiVAR_066704166A → T in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs138918468Ensembl.1
Natural variantiVAR_066705169R → Q in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs767519301EnsemblClinVar.1
Natural variantiVAR_065887170C → R in DYT6; no effect on dimerization. 2 Publications1
Natural variantiVAR_066706174E → G in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs759392096Ensembl.1
Natural variantiVAR_079366177L → P in DYT6; no effect on dimerization. 1 Publication1
Natural variantiVAR_066707180L → S in DYT6; no effect on dimerization. 2 Publications1
Natural variantiVAR_066708187Q → K in DYT6. 1 Publication1
Natural variantiVAR_066709192D → N in DYT6. 1 PublicationCorresponds to variant dbSNP:rs377725442EnsemblClinVar.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
ProteomicsDBi82871

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 Expressed in 200 organ(s), highest expression level in forebrain
CleanExiHS_THAP1
ExpressionAtlasiQ9NVV9 baseline and differential
GenevisibleiQ9NVV9 HS

Organism-specific databases

HPAiHPA071310

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself8EBI-741515,EBI-741515
ABCF3A0A0S2Z6453EBI-741515,EBI-16432404
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
C7orf50Q9BRJ65EBI-741515,EBI-751612
CDKN1BP465273EBI-741515,EBI-519280
CHD2O146473EBI-741515,EBI-1210503
CSNK2A1P684005EBI-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
NKAPD1Q6ZUT15EBI-741515,EBI-3920396
NKAPD1Q6ZUT1-23EBI-741515,EBI-10180231
NUP62P3719811EBI-741515,EBI-347978
PHF1O431893EBI-741515,EBI-530034
PID1Q7Z2X43EBI-741515,EBI-10256685
POLR2LP628753EBI-741515,EBI-359527
PPIGQ134273EBI-741515,EBI-396072
PRKAA1Q131313EBI-741515,EBI-1181405
PRR20CP864793EBI-741515,EBI-10172814
RALYLQ86SE54EBI-741515,EBI-741520
RALYLQ86SE5-35EBI-741515,EBI-11526555
RBM10P981755EBI-741515,EBI-721525
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
TPM3P067534EBI-741515,EBI-355607
TPM3Q5VU623EBI-741515,EBI-10184033
TRAF5O004635EBI-741515,EBI-523498
TRIM26Q128995EBI-741515,EBI-2341136
TTLL10Q6ZVT03EBI-741515,EBI-7844656
U2AF2P263684EBI-741515,EBI-742339
WDYHV1Q96HA86EBI-741515,EBI-741158
YES1P079475EBI-741515,EBI-515331
ZCCHC10Q8TBK66EBI-741515,EBI-597063
ZNF385CQ66K414EBI-741515,EBI-8651919
ZNF408Q9H9D45EBI-741515,EBI-347633

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi120448, 78 interactors
ELMiQ9NVV9
IntActiQ9NVV9, 102 interactors
MINTiQ9NVV9
STRINGi9606.ENSP00000254250

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NVV9
SMRiQ9NVV9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NVV9

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni139 – 185Involved in homodimer formation1 PublicationAdd BLAST47

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

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
OMAiHQRKRIQ
OrthoDBiEOG091G034R
PhylomeDBiQ9NVV9
TreeFamiTF330127

Family and domain databases

Gene3Di3.30.40.180, 1 hit
InterProiView protein in InterPro
IPR026516 THAP1
IPR006612 THAP_Znf
IPR038441 THAP_Znf_sf
PANTHERiPTHR23080:SF85 PTHR23080:SF85, 1 hit
PfamiView protein in Pfam
PF05485 THAP, 1 hit
SMARTiView protein in SMART
SM00692 DM3, 1 hit
SM00980 THAP, 1 hit
PROSITEiView protein in PROSITE
PS50950 ZF_THAP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIS9E9PIS9_HUMAN
THAP domain-containing protein 1
THAP1
118Annotation score:

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 dbSNP:rs267607112EnsemblClinVar.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 dbSNP:rs766483829Ensembl.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 dbSNP:rs387907177EnsemblClinVar.1
Natural variantiVAR_06668524K → E in DYT6; lower activity than wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907176EnsemblClinVar.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 dbSNP:rs767952378Ensembl.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 dbSNP:rs372080941EnsemblClinVar.1
Natural variantiVAR_05478881F → L in DYT6; affects DNA-binding. 2 PublicationsCorresponds to variant dbSNP:rs118204013EnsemblClinVar.1
Natural variantiVAR_06669783C → R in DYT6. 1 PublicationCorresponds to variant dbSNP:rs768017019Ensembl.1
Natural variantiVAR_06588589K → R in DYT6. 2 PublicationsCorresponds to variant dbSNP:rs267607111EnsemblClinVar.1
Natural variantiVAR_066698132F → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs950435041Ensembl.1
Natural variantiVAR_065886136N → K in DYT6. 1 Publication1
Natural variantiVAR_066699136N → S in DYT6. 1 PublicationCorresponds to variant dbSNP:rs769988455Ensembl.1
Natural variantiVAR_066700137Y → C in DYT6. 1 Publication1
Natural variantiVAR_066701143M → V in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs374512193EnsemblClinVar.1
Natural variantiVAR_066702149I → T in DYT6; no effect on dimerization. 3 Publications1
Natural variantiVAR_066703150H → P in DYT6; no effect on dimerization. 3 Publications1
Natural variantiVAR_066704166A → T in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs138918468Ensembl.1
Natural variantiVAR_066705169R → Q in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs767519301EnsemblClinVar.1
Natural variantiVAR_065887170C → R in DYT6; no effect on dimerization. 2 Publications1
Natural variantiVAR_066706174E → G in DYT6; no effect on dimerization. 2 PublicationsCorresponds to variant dbSNP:rs759392096Ensembl.1
Natural variantiVAR_079366177L → P in DYT6; no effect on dimerization. 1 Publication1
Natural variantiVAR_066707180L → S in DYT6; no effect on dimerization. 2 Publications1
Natural variantiVAR_066708187Q → K in DYT6. 1 Publication1
Natural variantiVAR_066709192D → N in DYT6. 1 PublicationCorresponds to variant dbSNP:rs377725442EnsemblClinVar.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

Similar 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
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, 78 interactors
ELMiQ9NVV9
IntActiQ9NVV9, 102 interactors
MINTiQ9NVV9
STRINGi9606.ENSP00000254250

PTM databases

iPTMnetiQ9NVV9
PhosphoSitePlusiQ9NVV9

Polymorphism and mutation databases

BioMutaiTHAP1
DMDMi29839656

Proteomic databases

EPDiQ9NVV9
MaxQBiQ9NVV9
PaxDbiQ9NVV9
PeptideAtlasiQ9NVV9
PRIDEiQ9NVV9
ProteomicsDBi82871

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
EuPathDBiHostDB:ENSG00000131931.8
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
OMAiHQRKRIQ
OrthoDBiEOG091G034R
PhylomeDBiQ9NVV9
TreeFamiTF330127

Miscellaneous databases

ChiTaRSiTHAP1 human
EvolutionaryTraceiQ9NVV9
GeneWikiiTHAP1
GenomeRNAii55145
PROiPR:Q9NVV9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131931 Expressed in 200 organ(s), highest expression level in forebrain
CleanExiHS_THAP1
ExpressionAtlasiQ9NVV9 baseline and differential
GenevisibleiQ9NVV9 HS

Family and domain databases

Gene3Di3.30.40.180, 1 hit
InterProiView protein in InterPro
IPR026516 THAP1
IPR006612 THAP_Znf
IPR038441 THAP_Znf_sf
PANTHERiPTHR23080:SF85 PTHR23080:SF85, 1 hit
PfamiView protein in Pfam
PF05485 THAP, 1 hit
SMARTiView protein in SMART
SM00692 DM3, 1 hit
SM00980 THAP, 1 hit
PROSITEiView protein in PROSITE
PS50950 ZF_THAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTHAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9NVV9
Secondary accession number(s): A6NCB6
, D3DSY5, H9KV49, Q53FQ1, Q6IA99
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 151 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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