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

    Gene ID: 55145, updated on 28-Oct-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 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)

    Genotypes

    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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