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

    Gene ID: 5612, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 20.3), thyroid (RPKM 16.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    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

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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. P52rIPK regulates the molecular cochaperone P58IPK to mediate control of the RNA-dependent protein kinase in response to cytoplasmic stress. Gale M Jr, et al. Biochemistry, 2002 Oct 1. PMID 12269832
    2. A gene expression in study human gastric adenocarcinoma using a cDNA microarray. Lee JH, et al. Korean J Gastroenterol, 2003 Dec. PMID 14695705
    3. A protein-kinase, IFN-inducible double-stranded RNA dependent inhibitor and repressor of p58 (PRKRIR) enhances type I IFN-mediated antiviral response through the stability control of RIG-I protein. Now H, et al. Biochem Biophys Res Commun, 2011 Sep 30. PMID 21910972
    4. The P58 cellular inhibitor complexes with the interferon-induced, double-stranded RNA-dependent protein kinase, PKR, to regulate its autophosphorylation and activity. Polyak SJ, et al. J Biol Chem, 1996 Jan 19. PMID 8576172
    5. Regulation of interferon-induced protein kinase PKR: modulation of P58IPK inhibitory function by a novel protein, P52rIPK. Gale M Jr, et al. Mol Cell Biol, 1998 Feb. PMID 9447982, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PRKRIR provides a novel positive regulator controlling the RIG-I-IFN production system through protein stability control.
      Title: A protein-kinase, IFN-inducible double-stranded RNA dependent inhibitor and repressor of p58 (PRKRIR) enhances type I IFN-mediated antiviral response through the stability control of RIG-I protein.
    2. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
    4. role in promoting MST1-induced apoptosis by enabling colocalization of MST with p53
      Title: Death-associated protein 4 binds MST1 and augments MST1-induced apoptosis.
    Submit: New GeneRIF Correction

    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

    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

    • 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

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    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)

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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.

    mRNA and Protein(s)

    1. NM_004705.4 → NP_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:6 → 86
      THAP; THAP domain
      pfam05699
      Location:672 → 729
      Dimer_Tnp_hAT; hAT family C-terminal dimerization region
      pfam14291
      Location:157 → 330
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43422.2 GenPept UniProtKB/Swiss-Prot:O43422

    Gene LinkOut

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

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