THAP1 | ENSG00000131931 | NCBI 55145

Details for: THAP1

Gene ID: 55145

Symbol: THAP1

Ensembl ID: ENSG00000131931

Description: THAP domain containing 1

Associated with

Cell cycle
(GO:0007049)
Chromatin
(GO:0000785)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna-binding transcription repressor activity, rna polymerase ii-specific
(GO:0001227)
Dna-templated transcription
(GO:0006351)
Endothelial cell proliferation
(GO:0001935)
Fibrillar center
(GO:0001650)
Identical protein binding
(GO:0042802)
Intracellular membrane-bounded organelle
(GO:0043231)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Pml body
(GO:0016605)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of mitotic cell cycle
(GO:0007346)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Sequence-specific dna binding
(GO:0043565)
Zinc ion binding
(GO:0008270)

Other Information

Proteins

THAP domain-containing protein 1

Genular Protein ID: 3987809387

Symbol: THAP1_HUMAN

Name: THAP domain-containing protein 1

UniProtKB Accession Codes:

Q9NVV9 A6NCB6 D3DSY5 H9KV49 Q53FQ1 Q6IA99

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12717420

Title: THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies.

PubMed ID: 12717420

DOI: 10.1038/sj.onc.1206271

PubMed ID: 15863623

Title: The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity.

PubMed ID: 15863623

DOI: 10.1073/pnas.0406882102

PubMed ID: 17003378

Title: The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes.

PubMed ID: 17003378

DOI: 10.1182/blood-2006-03-012013

PubMed ID: 20200153

Title: The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.

PubMed ID: 20200153

DOI: 10.1074/jbc.m109.072579

PubMed ID: 20010837

Title: THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves.

PubMed ID: 20010837

DOI: 10.1038/nsmb.1742

PubMed ID: 21793105

Title: DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

PubMed ID: 21793105

DOI: 10.1002/humu.21564

PubMed ID: 18073205

Title: Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways.

PubMed ID: 18073205

DOI: 10.1074/jbc.m707537200

PubMed ID: 20144952

Title: Structural determinants of specific DNA-recognition by the THAP zinc finger.

PubMed ID: 20144952

DOI: 10.1093/nar/gkq053

PubMed ID: 19345147

Title: Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

PubMed ID: 19345147

DOI: 10.1016/s1474-4422(09)70081-x

PubMed ID: 19908325

Title: Mutation screening of the DYT6/THAP1 gene in Italy.

PubMed ID: 19908325

DOI: 10.1002/mds.22861

PubMed ID: 19908320

Title: Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

PubMed ID: 19908320

DOI: 10.1002/mds.22849

PubMed ID: 19182804

Title: Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

PubMed ID: 19182804

DOI: 10.1038/ng.304

PubMed ID: 20629133

Title: Adult-onset leg dystonia due to a missense mutation in THAP1.

PubMed ID: 20629133

DOI: 10.1002/mds.23086

PubMed ID: 20669277

Title: Prevalence of THAP1 sequence variants in German patients with primary dystonia.

PubMed ID: 20669277

DOI: 10.1002/mds.23207

PubMed ID: 20687191

Title: DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

PubMed ID: 20687191

DOI: 10.1002/mds.23285

PubMed ID: 20083799

Title: Novel THAP1 sequence variants in primary dystonia.

PubMed ID: 20083799

DOI: 10.1212/wnl.0b013e3181ca00ca

PubMed ID: 20211909

Title: THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

PubMed ID: 20211909

DOI: 10.1212/wnl.0b013e3181d5276d

PubMed ID: 21847143

Title: Identification and functional analysis of novel THAP1 mutations.

PubMed ID: 21847143

DOI: 10.1038/ejhg.2011.159

PubMed ID: 20825472

Title: Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.

PubMed ID: 20825472

DOI: 10.1111/j.1468-1331.2010.03192.x

PubMed ID: 21800139

Title: THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

PubMed ID: 21800139

DOI: 10.1007/s00415-011-6196-5

PubMed ID: 21839475

Title: Novel THAP1 gene mutations in patients with primary dystonia from Southwest China.

PubMed ID: 21839475

DOI: 10.1016/j.jns.2011.07.023

PubMed ID: 21425335

Title: Homozygous THAP1 mutations as cause of early-onset generalized dystonia.

PubMed ID: 21425335

DOI: 10.1002/mds.23561

PubMed ID: 21425341

Title: DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.

PubMed ID: 21425341

DOI: 10.1002/mds.23599

PubMed ID: 21110056

Title: Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

PubMed ID: 21110056

DOI: 10.1007/s10048-010-0264-3

PubMed ID: 22377579

Title: Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases.

PubMed ID: 22377579

DOI: 10.1016/j.parkreldis.2012.02.001

PubMed ID: 25385508

Title: High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

PubMed ID: 25385508

DOI: 10.3109/00207454.2014.981749

PubMed ID: 28299530

Title: In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

PubMed ID: 28299530

DOI: 10.1007/s12031-017-0904-2

Sequence Information:

Length: 213
Mass: 24944
Checksum: F3769B0F4CC56539
Sequence:

MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY SSICSEHFTP 
DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL PPPPLPPPVS QVDAAIGLLM 
PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH QLEQQVEKLR KKLKTAQQRC RRQERQLEKL 
KEVVHFQKEK DDVSERGYVI LPNDYFEIVE VPA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: THAP1

Associated with

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

DNA sequence and analysis of human chromosome 8. PubMed ID: 16421571

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. PubMed ID: 12717420

The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. PubMed ID: 15863623

The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. PubMed ID: 17003378

The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. PubMed ID: 20200153

THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves. PubMed ID: 20010837

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. PubMed ID: 21793105

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. PubMed ID: 18073205

Structural determinants of specific DNA-recognition by the THAP zinc finger. PubMed ID: 20144952

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. PubMed ID: 19345147

Mutation screening of the DYT6/THAP1 gene in Italy. PubMed ID: 19908325

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. PubMed ID: 19908320

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. PubMed ID: 19182804

Adult-onset leg dystonia due to a missense mutation in THAP1. PubMed ID: 20629133

Prevalence of THAP1 sequence variants in German patients with primary dystonia. PubMed ID: 20669277

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. PubMed ID: 20687191

Novel THAP1 sequence variants in primary dystonia. PubMed ID: 20083799

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. PubMed ID: 20211909

Identification and functional analysis of novel THAP1 mutations. PubMed ID: 21847143

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. PubMed ID: 20825472

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. PubMed ID: 21800139

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China. PubMed ID: 21839475

Homozygous THAP1 mutations as cause of early-onset generalized dystonia. PubMed ID: 21425335

DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. PubMed ID: 21425341

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. PubMed ID: 21110056

Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases. PubMed ID: 22377579

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. PubMed ID: 25385508

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. PubMed ID: 28299530