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

    Gene ID: 55145, updated on 27-Nov-2022

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See THAP1 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42836674..42843325, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43104786..43111438, complement)
    105.20220307 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 ribosomal protein L7 like 1 pseudogene Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene uncharacterized LOC124901940 Neighboring gene ring finger protein 170 Neighboring gene RNA, 7SL, cytoplasmic 806, pseudogene Neighboring gene microRNA 4469

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10477, MGC33014

    Gene Ontology Provided by GOA

    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
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_018105.3NP_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
      Q6IA99, Q9NVV9
      Related
      ENSP00000254250.3, ENST00000254250.7
      Conserved Domains (1) summary
      smart00980
      Location:482
      THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion
    2. NM_199003.2NP_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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)