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

    Gene ID: 55145, updated on 6-Aug-2017
    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; Vega:OTTHUMG00000165276
    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]
    Orthologs
    Location:
    8p11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (42836674..42843331, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42691817..42698474, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic beta 3 subunit Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene ring finger protein 170 Neighboring gene RNA, 7SL, cytoplasmic 806, pseudogene Neighboring gene microRNA 4469

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10477, MGC33014

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IEA
    Inferred from Electronic Annotation
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    THAP domain-containing protein 1
    Names
    4833431A01Rik
    THAP domain containing, apoptosis associated protein 1
    THAP domain protein 1
    nuclear proapoptotic factor

    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_011837.1 RefSeqGene

      Range
      5001..11658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018105.2NP_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)
      AI475984, AK001339, AL832077, CD709111
      Consensus CDS
      CCDS6136.1
      UniProtKB/Swiss-Prot
      Q9NVV9
      Related
      ENSP00000254250.3, OTTHUMP00000229191, ENST00000254250.7, OTTHUMT00000383161
      Conserved Domains (1) summary
      pfam05485
      Location:482
      THAP; THAP domain
    2. NM_199003.1NP_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)
      AI475984, AL832077, BG497522, CD639319
      Consensus CDS
      CCDS6137.1
      UniProtKB/Swiss-Prot
      Q9NVV9
      Related
      ENSP00000344966.2, OTTHUMP00000229192, ENST00000345117.2, OTTHUMT00000383162
      Conserved Domains (1) summary
      cl02739
      Location:424
      THAP; THAP domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      42836674..42843331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      42738710..42745365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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