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    THAP12 THAP domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 5612, updated on 9-Dec-2024

    Summary

    Official Symbol
    THAP12provided by HGNC
    Official Full Name
    THAP domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:9440
    See related
    Ensembl:ENSG00000137492 MIM:607374; AllianceGenome:HGNC:9440
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAP4; THAP0; PRKRIR; P52rIPK
    Summary
    Predicted to enable several functions, including DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 20.3), thyroid (RPKM 16.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See THAP12 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76349956..76381132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76279675..76310857, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76061000..76092176, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tRNA-Pro (anticodon TGG) 2-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75953802-75954634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75967229-75968058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75968059-75968886 Neighboring gene uncharacterized LOC105369395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76002308-76003103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76016188-76016809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76025090-76025639 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:76025791-76025969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76077131-76077632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76091381-76091882 Neighboring gene GVQW motif containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155067-76155702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155703-76156339 Neighboring gene EMSY divergent transcript

    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

    Clone Names

    • MGC102750

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    52 kDa repressor of the inhibitor of the protein kinase
    Names
    58 kDa interferon-induced protein kinase-interacting protein
    P58IPK-regulatory protein
    THAP domain-containing protein 0
    THAP domain-containing protein 12
    death-associated protein 4
    inhibitor of protein kinase PKR
    p58IPK-interacting protein
    protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)
    testicular tissue protein Li 133

    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.

    mRNA and Protein(s)

    1. NM_004705.4NP_004696.2  52 kDa repressor of the inhibitor of the protein kinase

      See identical proteins and their annotated locations for NP_004696.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AA765102, AF081567, AP002360, DR005363
      Consensus CDS
      CCDS8243.1
      UniProtKB/Swiss-Prot
      A8K728, O43422, Q17RY9, Q8WTW1, Q9Y3Z4
      UniProtKB/TrEMBL
      A0A140VJQ7, Q2YDB3
      Related
      ENSP00000260045.3, ENST00000260045.8
      Conserved Domains (3) summary
      pfam05485
      Location:686
      THAP; THAP domain
      pfam05699
      Location:672729
      Dimer_Tnp_hAT; hAT family C-terminal dimerization region
      pfam14291
      Location:157330
      DUF4371; Domain of unknown function (DUF4371)

    RNA

    1. NR_130898.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA765102, AF081567, AP002360, DR005363
      Related
      ENST00000684702.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      76349956..76381132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      76279675..76310857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)