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THAP1 THAP domain containing 1 [ Homo sapiens (human) ]

Gene ID: 55145, updated on 10-Dec-2024

Summary

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Official Symbol
THAP1provided by HGNC
Official Full Name
THAP domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20856
See related
Ensembl:ENSG00000131931 MIM:609520; AllianceGenome:HGNC:20856
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYT6
Summary
The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See THAP1 in Genome Data Viewer
Location:
8p11.21
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42836674..42843325, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43104786..43111438, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42691817..42698468, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic beta 3 subunit Neighboring gene RPL7L1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27315 Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42649154-42649988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27317 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42671563-42671730 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:42698061-42698851 Neighboring gene uncharacterized LOC124901940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27319 Neighboring gene ring finger protein 170 Neighboring gene RNA, 7SL, cytoplasmic 806, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42750865-42751426 Neighboring gene microRNA 4469

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DYT6 in Japan-genetic screening and clinical characteristics of the patients. Miyamoto R, et al. Mov Disord, 2014 Feb. PMID 24227593
  2. THAP1 mutations are infrequent in spasmodic dysphonia. Groen JL, et al. Mov Disord, 2011 Aug 15. PMID 21538522
  3. An African-American family with dystonia. Puschmann A, et al. Parkinsonism Relat Disord, 2011 Aug. PMID 21601506, Free PMC Article
  4. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Kamm C, et al. Mov Disord, 2011 Sep. PMID 21638323
  5. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. Golanska E, et al. PLoS One, 2015. PMID 26087139, Free PMC Article

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
    Title: DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
  2. A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
    Title: A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
  3. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
    Title: Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
  4. Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
    Title: Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
  5. Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
    Title: Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
  6. Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
    Title: Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
  7. Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia.
    Title: Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
  8. The region of amino acids 139-185 is involved in formation of THAP1 homodimers.
    Title: In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
  9. We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 recruitment to all four tested promoter regions.
    Title: Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
  10. that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients
    Title: Genetic screening of THAP1 in primary dystonia patients of India.
Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Torsion dystonia 6
MedGen: C1414216 OMIM: 602629 GeneReviews: Hereditary Dystonia Overview
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10477, MGC33014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
THAP domain-containing protein 1
Names
4833431A01Rik
THAP domain containing, apoptosis associated protein 1
THAP domain protein 1
nuclear proapoptotic factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011837.2 RefSeqGene

    Range
    5000..11651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018105.3 → NP_060575.1  THAP domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC087533
    Consensus CDS
    CCDS6136.1
    UniProtKB/Swiss-Prot
    A6NCB6, D3DSY5, H9KV49, Q53FQ1, Q6IA99, Q9NVV9
    Related
    ENSP00000254250.3, ENST00000254250.7
    Conserved Domains (1) summary
    smart00980
    Location:4 → 82
    THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

  2. NM_199003.2 → NP_945354.1  THAP domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_945354.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon compared to variant 1, which causes a frameshift. The resulting isoform (2) has a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC087533
    Consensus CDS
    CCDS6137.1
    UniProtKB/Swiss-Prot
    Q9NVV9
    Related
    ENSP00000344966.2, ENST00000345117.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    42836674..42843325 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    43104786..43111438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVV9.1 GenPept UniProtKB/Swiss-Prot:Q9NVV9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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