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    THAP9 THAP domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 79725, updated on 10-Dec-2024

    Summary

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    Official Symbol
    THAP9provided by HGNC
    Official Full Name
    THAP domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:23192
    See related
    Ensembl:ENSG00000168152 MIM:612537; AllianceGenome:HGNC:23192
    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
    hTh9
    Summary
    Enables sequence-specific DNA binding activity and transposase activity. Involved in DNA integration and DNA transposition. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 2.9), thyroid (RPKM 1.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See THAP9 in Genome Data Viewer
    Location:
    4q21.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (82900735..82919969)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86229954..86249175)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (83821888..83841122)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SEC31 homolog A, COPII coat complex component Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:83821333-83821852 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:83821853-83822372 Neighboring gene THAP9 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 143 Neighboring gene small nucleolar RNA, C/D box 144 Neighboring gene lin-54 DREAM MuvB core complex component Neighboring gene ReSE screen-validated silencer GRCh37_chr4:83887737-83887940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15537 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:83933797-83934682 Neighboring gene RNA, U6 small nuclear 615, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21671 Neighboring gene Sharpr-MPRA regulatory region 7954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:83956719-83957224 Neighboring gene COP9 signalosome subunit 4

    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. THAP9-AS1 Promotes Tumorigenesis and Reduces ROS Generation through the JAK2/STAT3 Signaling Pathway by Increasing SOCS3 Promoter Methylation in Osteosarcoma. Yang S, et al. Oxid Med Cell Longev, 2021. PMID 34691358, Free PMC Article
    2. THAP9 Transposase Cleaves DNA via Conserved Acidic Residues in an RNaseH-Like Domain. Sharma V, et al. Cells, 2021 May 29. PMID 34072453, Free PMC Article
    3. Oligomerization of THAP9 Transposase via Amino-Terminal Domains. Sanghavi HM, et al. Biochemistry, 2021 Jun 15. PMID 34033475
    4. The human THAP9 gene encodes an active P-element DNA transposase. Majumdar S, et al. Science, 2013 Jan 25. PMID 23349291, Free PMC Article
    5. THAP9-AS1/miR-133b/SOX4 positive feedback loop facilitates the progression of esophageal squamous cell carcinoma. Cheng J, et al. Cell Death Dis, 2021 Apr 14. PMID 33854048, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THAP9-AS1 Promotes Tumorigenesis and Reduces ROS Generation through the JAK2/STAT3 Signaling Pathway by Increasing SOCS3 Promoter Methylation in Osteosarcoma.
      Title: THAP9-AS1 Promotes Tumorigenesis and Reduces ROS Generation through the JAK2/STAT3 Signaling Pathway by Increasing SOCS3 Promoter Methylation in Osteosarcoma.
    2. Oligomerization of THAP9 Transposase via Amino-Terminal Domains.
      Title: Oligomerization of THAP9 Transposase via Amino-Terminal Domains.
    3. THAP9 Transposase Cleaves DNA via Conserved Acidic Residues in an RNaseH-Like Domain.
      Title: THAP9 Transposase Cleaves DNA via Conserved Acidic Residues in an RNaseH-Like Domain.
    4. THAP9-AS1/miR-133b/SOX4 positive feedback loop facilitates the progression of esophageal squamous cell carcinoma.
      Title: THAP9-AS1/miR-133b/SOX4 positive feedback loop facilitates the progression of esophageal squamous cell carcinoma.
    5. results indicate that human THAP9 is an active DNA transposase that, although "domesticated," still retains the catalytic activity to mobilize P transposable elements across species
      Title: The human THAP9 gene encodes an active P-element DNA transposase.
    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

    • FLJ23320, FLJ34093

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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 sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transposase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transposase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA integration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA transposition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA transposition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA transposase THAP9
    Names
    THAP domain-containing protein 9

    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_001317776.2 → NP_001304705.1  DNA transposase THAP9 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA478110, AC021105, BC131722, DA317935
      Conserved Domains (1) summary
      pfam12017
      Location:72 → 244
      Tnp_P_element; Transposase protein

    2. NM_024672.6 → NP_078948.3  DNA transposase THAP9 isoform 1

      See identical proteins and their annotated locations for NP_078948.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA478110, AC021105, DA317935, DB154392
      Consensus CDS
      CCDS3598.1
      UniProtKB/Swiss-Prot
      B3KRE2, Q59AC9, Q9H5L6
      Related
      ENSP00000305533.5, ENST00000302236.10
      Conserved Domains (2) summary
      pfam05485
      Location:4 → 88
      THAP; THAP domain
      pfam12017
      Location:216 → 388
      Tnp_P_element; Transposase protein

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      82900735..82919969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416165.1 → XP_047272121.1  DNA transposase THAP9 isoform X1

    2. XM_047416166.1 → XP_047272122.1  DNA transposase THAP9 isoform X2

    3. XM_047416167.1 → XP_047272123.1  DNA transposase THAP9 isoform X2

    4. XM_047416168.1 → XP_047272124.1  DNA transposase THAP9 isoform X2

    5. XM_047416169.1 → XP_047272125.1  DNA transposase THAP9 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      86229954..86249175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350828.1 → XP_054206803.1  DNA transposase THAP9 isoform X1

    2. XM_054350829.1 → XP_054206804.1  DNA transposase THAP9 isoform X2

    3. XM_054350830.1 → XP_054206805.1  DNA transposase THAP9 isoform X2

    4. XM_054350831.1 → XP_054206806.1  DNA transposase THAP9 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5L6.2 GenPept UniProtKB/Swiss-Prot:Q9H5L6

    Gene LinkOut

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