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UniProtKB - Q9NVV9 (THAP1_HUMAN)

Entry version 171 (25 May 2022)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

THAP domain-containing protein 1

Gene

THAP1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.

3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri1 – 81THAP-typePROSITE-ProRule annotationAdd BLAST81

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NVV9

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9NVV9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
THAP domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:THAP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20856, THAP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609520, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NVV9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000131931

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dystonia 6, torsion (DYT6)20 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0666776S → F in DYT6. 1 Publication1
Natural variantiVAR_0666786S → P in DYT6. 1 PublicationCorresponds to variant dbSNP:rs1586459410Ensembl.1
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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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 variant, Dystonia

Organism-specific databases

DisGeNET

More...DisGeNETi		55145

MalaCards human disease database

More...MalaCardsi		THAP1
MIMi602629, phenotype

Open Targets

More...OpenTargetsi		ENSG00000131931

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98806, Primary dystonia, DYT6 type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134920361

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NVV9, Tbio

Chemistry databases

DrugCentral

More...DrugCentrali		Q9NVV9

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		THAP1

Domain mapping of disease mutations (DMDM)

More...DMDMi		29839656

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000686371 – 213THAP domain-containing protein 1Add BLAST213

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NVV9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NVV9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NVV9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NVV9

PeptideAtlas

More...PeptideAtlasi		Q9NVV9

PRoteomics IDEntifications database

More...PRIDEi		Q9NVV9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		46208
82871 [Q9NVV9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NVV9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NVV9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131931, Expressed in forebrain and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NVV9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NVV9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000131931, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9NVV9
With#Exp.IntAct
ABCF3 [A0A0S2Z645]3EBI-741515,EBI-16432404
ACOT7 [O00154]3EBI-741515,EBI-948905
ACOT7 - isoform 4 [O00154-4]3EBI-741515,EBI-12007918
AKAP17A [Q02040]5EBI-741515,EBI-1042725
AKAP17A - isoform 3 [Q02040-3]3EBI-741515,EBI-10222656
AKAP9 - isoform 2 [Q99996-2]3EBI-741515,EBI-9641546
AP2B1 [P63010]4EBI-741515,EBI-432924
ARL6IP4 - isoform 3 [Q66PJ3-3]3EBI-741515,EBI-10248982
BAG5 [Q9UL15]7EBI-741515,EBI-356517
BEND7 - isoform 2 [Q8N7W2-2]3EBI-741515,EBI-10181188
BYSL [Q13895]8EBI-741515,EBI-358049
C1orf216 [Q8TAB5]3EBI-741515,EBI-747505
C4orf45 [Q96LM5]3EBI-741515,EBI-12020542
C7orf50 [Q9BRJ6]6EBI-741515,EBI-751612
CDC37 [Q16543]3EBI-741515,EBI-295634
CDKN1B [P46527]3EBI-741515,EBI-519280
CDKN2D [P55273]3EBI-741515,EBI-745859
CHD2 [O14647]3EBI-741515,EBI-1210503
CSNK2A1 [P68400]7EBI-741515,EBI-347804
DCAF8 [Q5TAQ9]3EBI-741515,EBI-740686
FAM124A [Q86V42]3EBI-741515,EBI-744506
FAM133A [Q8N9E0]6EBI-741515,EBI-10268158
FAM9A [Q8IZU1]3EBI-741515,EBI-8468186
FGF10 [O15520]3EBI-741515,EBI-1035684
FGF11 [Q92914]3EBI-741515,EBI-11987787
FGF12 - isoform 2 [P61328-2]3EBI-741515,EBI-10699759
GAS8 [O95995]3EBI-741515,EBI-1052570
GFAP [P14136]3EBI-741515,EBI-744302
GPATCH2L [Q9NWQ4]3EBI-741515,EBI-5666657
GPATCH2L - isoform 2 [Q9NWQ4-1]5EBI-741515,EBI-11959863
HCFC1 [P51610]6EBI-741515,EBI-396176
hCG_1744368 [A0A024RA76]3EBI-741515,EBI-10180729
hCG_2003792 [A0A024R5S0]6EBI-741515,EBI-10188461
HNRNPLL [Q8WVV9]3EBI-741515,EBI-535849
INO80B [Q9C086]3EBI-741515,EBI-715611
KANK2 [Q63ZY3]3EBI-741515,EBI-2556193
KLF12 [Q9Y4X4]3EBI-741515,EBI-750750
KRTAP10-7 [P60409]3EBI-741515,EBI-10172290
L3MBTL2 [Q969R5]3EBI-741515,EBI-739909
LASP1 [Q14847]3EBI-741515,EBI-742828
LMNB2 [Q03252]3EBI-741515,EBI-2830427
LMO3 - isoform 4 [Q8TAP4-4]3EBI-741515,EBI-11742507
LNX1 [Q8TBB1]3EBI-741515,EBI-739832
METTL13 [Q8N6R0]4EBI-741515,EBI-1053295
MFAP1 [P55081]3EBI-741515,EBI-1048159
MIS18A [Q9NYP9]3EBI-741515,EBI-1104552
MMTAG2 [Q9BU76]9EBI-741515,EBI-742459
MORF4L1 [Q9UBU8]3EBI-741515,EBI-399246
MORF4L2 [Q15014]3EBI-741515,EBI-399257
MRPL11 [Q9Y3B7]4EBI-741515,EBI-5453723
MRPL53 [Q96EL3]3EBI-741515,EBI-2513715
NDUFAB1 [O14561]3EBI-741515,EBI-1246261
NDUFV2 [P19404]3EBI-741515,EBI-713665
NKAPD1 [Q6ZUT1]6EBI-741515,EBI-3920396
NKAPD1 - isoform 2 [Q6ZUT1-2]3EBI-741515,EBI-10180231
NOS3 [P29474]3EBI-741515,EBI-1391623
NTAQ1 [Q96HA8]8EBI-741515,EBI-741158
NUP62 [P37198]12EBI-741515,EBI-347978
PHF1 [O43189]4EBI-741515,EBI-530034
PHF19 [Q5T6S3]3EBI-741515,EBI-2339674
PID1 [Q7Z2X4]3EBI-741515,EBI-10256685
PMP22 [D3DTS7]3EBI-741515,EBI-25882629
PNKP [Q96T60]3EBI-741515,EBI-1045072
POLR2L [P62875]3EBI-741515,EBI-359527
POU6F2 [P78424]3EBI-741515,EBI-12029004
PPIG [Q13427]3EBI-741515,EBI-396072
PRKAA1 [Q13131]3EBI-741515,EBI-1181405
PRR20C [P86479]3EBI-741515,EBI-10172814
PRR20D [P86480]3EBI-741515,EBI-12754095
RAD54L2 [Q9Y4B4]3EBI-741515,EBI-948156
RALY [Q53GL6]3EBI-741515,EBI-9512693
RALYL [Q86SE5]4EBI-741515,EBI-741520
RALYL - isoform 3 [Q86SE5-3]6EBI-741515,EBI-11526555
RBM10 [P98175]6EBI-741515,EBI-721525
RBM39 [Q14498]6EBI-741515,EBI-395290
RIPPLY1 [Q0D2K3]6EBI-741515,EBI-10226430
RNF4 [P78317]3EBI-741515,EBI-2340927
RPL22 [P35268]3EBI-741515,EBI-354533
RPS25 [P62851]3EBI-741515,EBI-353054
SAP30BP [Q9UHR5]3EBI-741515,EBI-751683
SLU7 [O95391]3EBI-741515,EBI-750559
SPANXN2 [Q5MJ10]3EBI-741515,EBI-12023934
SREK1IP1 [Q8N9Q2]3EBI-741515,EBI-10268630
STRBP [Q96SI9]7EBI-741515,EBI-740355
TCEA2 [Q15560]6EBI-741515,EBI-710310
TCEANC - isoform 2 [Q8N8B7-2]3EBI-741515,EBI-11955057
itself9EBI-741515,EBI-741515
TPM3 [P06753]6EBI-741515,EBI-355607
TPM3 [Q5VU62]3EBI-741515,EBI-10184033
TRAF5 [O00463]6EBI-741515,EBI-523498
TRIM26 [Q12899]6EBI-741515,EBI-2341136
TRIP10 - isoform 2 [Q15642-2]3EBI-741515,EBI-6550597
TTLL10 [Q6ZVT0]3EBI-741515,EBI-7844656
U2AF2 [P26368]4EBI-741515,EBI-742339
UBE2I [Q7KZS0]3EBI-741515,EBI-10180829
VCX2 [Q3SXR9]3EBI-741515,EBI-11983741
YES1 [P07947]6EBI-741515,EBI-515331
ZBTB48 [P10074]3EBI-741515,EBI-744864
ZCCHC10 [Q8TBK6]10EBI-741515,EBI-597063
ZGPAT - isoform 2 [Q8N5A5-2]3EBI-741515,EBI-10183064
ZNF385C [Q66K41]4EBI-741515,EBI-8651919
ZNF385C - isoform 2 [Q66K41-2]3EBI-741515,EBI-12055653
ZNF408 [Q9H9D4]4EBI-741515,EBI-347633
ZNF526 [Q8TF50]3EBI-741515,EBI-11035148

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120448, 125 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9NVV9

Protein interaction database and analysis system

More...IntActi		Q9NVV9, 110 interactors

Molecular INTeraction database

More...MINTi		Q9NVV9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000254250

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NVV9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9NVV9

Biological Magnetic Resonance Data Bank

More...BMRBi		Q9NVV9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NVV9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9NVV9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni139 – 185Involved in homodimer formation1 PublicationAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili139 – 190Sequence analysisAdd BLAST52

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi134 – 137HCFC1-binding motif (HBM)4

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159383

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_076186_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NVV9

Identification of Orthologs from Complete Genome Data

More...OMAi		LMPPLHT

Database of Orthologous Groups

More...OrthoDBi		1382095at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NVV9

TreeFam database of animal gene trees

More...TreeFami		TF330127

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		6.20.210.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026516, THAP1
IPR006612, THAP_Znf
IPR038441, THAP_Znf_sf

The PANTHER Classification System

More...PANTHERi		PTHR46600, PTHR46600, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05485, THAP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00692, DM3, 1 hit
SM00980, THAP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50950, ZF_THAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:53
Mass (Da):6,493
Checksum:i5F29C2F675B375B7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1586459410Ensembl.1
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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6136.1 [Q9NVV9-1]
CCDS6137.1 [Q9NVV9-2]

NCBI Reference Sequences

More...RefSeqi		NP_060575.1, NM_018105.2 [Q9NVV9-1]
NP_945354.1, NM_199003.1 [Q9NVV9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000254250.7; ENSP00000254250.3; ENSG00000131931.8
ENST00000345117.2; ENSP00000344966.2; ENSG00000131931.8 [Q9NVV9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55145

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55145

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000254250.7; ENSP00000254250.3; NM_018105.3; NP_060575.1

UCSC genome browser

More...UCSCi		uc003xpk.4, human [Q9NVV9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JTGNMR-A1-81[»]
2KO0NMR-A1-82[»]
2L1GNMR-A1-82[»]
AlphaFoldDBiQ9NVV9
BMRBiQ9NVV9
SMRiQ9NVV9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120448, 125 interactors
ELMiQ9NVV9
IntActiQ9NVV9, 110 interactors
MINTiQ9NVV9
STRINGi9606.ENSP00000254250

Chemistry databases

DrugCentraliQ9NVV9

PTM databases

iPTMnetiQ9NVV9
PhosphoSitePlusiQ9NVV9

Genetic variation databases

BioMutaiTHAP1
DMDMi29839656

Proteomic databases

EPDiQ9NVV9
MassIVEiQ9NVV9
MaxQBiQ9NVV9
PaxDbiQ9NVV9
PeptideAtlasiQ9NVV9
PRIDEiQ9NVV9
ProteomicsDBi46208
82871 [Q9NVV9-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q9NVV9, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24159, 127 antibodies from 27 providers

The DNASU plasmid repository

More...DNASUi		55145

Genome annotation databases

EnsembliENST00000254250.7; ENSP00000254250.3; ENSG00000131931.8
ENST00000345117.2; ENSP00000344966.2; ENSG00000131931.8 [Q9NVV9-2]
GeneIDi55145
KEGGihsa:55145
MANE-SelectiENST00000254250.7; ENSP00000254250.3; NM_018105.3; NP_060575.1
UCSCiuc003xpk.4, human [Q9NVV9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55145
DisGeNETi55145

GeneCards: human genes, protein and diseases

More...GeneCardsi		THAP1
HGNCiHGNC:20856, THAP1
HPAiENSG00000131931, Low tissue specificity
MalaCardsiTHAP1
MIMi602629, phenotype
609520, gene
neXtProtiNX_Q9NVV9
OpenTargetsiENSG00000131931
Orphaneti98806, Primary dystonia, DYT6 type
PharmGKBiPA134920361
VEuPathDBiHostDB:ENSG00000131931

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721, Eukaryota
GeneTreeiENSGT00940000159383
HOGENOMiCLU_076186_2_1_1
InParanoidiQ9NVV9
OMAiLMPPLHT
OrthoDBi1382095at2759
PhylomeDBiQ9NVV9
TreeFamiTF330127

Enzyme and pathway databases

PathwayCommonsiQ9NVV9
SignaLinkiQ9NVV9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55145, 658 hits in 1107 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		THAP1, human
EvolutionaryTraceiQ9NVV9

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		THAP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55145
PharosiQ9NVV9, Tbio

Protein Ontology

More...PROi		PR:Q9NVV9
RNActiQ9NVV9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131931, Expressed in forebrain and 211 other tissues
ExpressionAtlasiQ9NVV9, baseline and differential
GenevisibleiQ9NVV9, HS

Family and domain databases

Gene3Di6.20.210.20, 1 hit
InterProiView protein in InterPro
IPR026516, THAP1
IPR006612, THAP_Znf
IPR038441, THAP_Znf_sf
PANTHERiPTHR46600, PTHR46600, 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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTHAP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NVV9
Secondary accession number(s): A6NCB6
, D3DSY5, H9KV49, Q53FQ1, Q6IA99
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 1, 2000
Last modified: May 25, 2022
This is version 171 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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