U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 79725, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 transposition, DNA-mediated. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.9), thyroid (RPKM 1.5) and 25 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4q21.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (82900735..82919969)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86229954..86249175)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
DNA transposase THAP9
Names
THAP domain-containing protein 9

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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_2023_10

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

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous