• Gene id: 79725

Gene Summary

• Gene Symbol: THAP9   Gene   UCSC   Ensembl
• Aliases: hTh9
• Gene name: THAP domain containing 9
• Alternate names: DNA transposase THAP9, THAP domain-containing protein 9,
• Gene location: 4q21.22 (82900649: 82920282)     Exons: 8     NC_000004.12
• OMIM: 612537

Protein Summary

• Protein general information: Q9H5L6  
  • Name: DNA transposase THAP9 (EC 2.7.7. ) (THAP domain containing protein 9) (hTh9)
  • Length: 903  
  • Mass: 103411
• Sequence:

  MTRSCSAVGCSTRDTVLSRERGLSFHQFPTDTIQRSKWIRAVNRVDPRSKKIWIPGPGAILCSKHFQESDFESYG
  IRRKLKKGAVPSVSLYKIPQGVHLKGKARQKILKQPLPDNSQEVATEDHNYSLKTPLTIGAEKLAEVQQMLQVSK
  KRLISVKNYRMIKKRKGLRLIDALVEEKLLSEETECLLRAQFSDFKWELYNWRETDEYSAEMKQFACTLYLCSSK
  VYDYVRKILKLPHSSILRTWLSKCQPSPGFNSNIFSFLQRRVENGDQLYQYCSLLIKSMPLKQQLQWDPSSHSLQ
  GFMDFGLGKLDADETPLASETVLLMAVGIFGHWRTPLGYFFVNRASGYLQAQLLRLTIGKLSDIGITVLAVTSDA
  TAHSVQMAKALGIHIDGDDMKCTFQHPSSSSQQIAYFFDSCHLLRLIRNAFQNFQSIQFINGIAHWQHLVELVAL
  EEQELSNMERIPSTLANLKNHVLKVNSATQLFSESVASALEYLLSLDLPPFQNCIGTIHFLRLINNLFDIFNSRN
  CYGKGLKGPLLPETYSKINHVLIEAKTIFVTLSDTSNNQIIKGKQKLGFLGFLLNAESLKWLYQNYVFPKVMPFP
  YLLTYKFSHDHLELFLKMLRQVLVTSSSPTCMAFQKAYYNLETRYKFQDEVFLSKVSIFDISIARRKDLALWTVQ
  RQYGVSVTKTVFHEEGICQDWSHCSLSEALLDLSDHRRNLICYAGYVANKLSALLTCEDCITALYASDLKASKIG
  SLLFVKKKNGLHFPSESLCRVINICERVVRTHSRMAIFELVSKQRELYLQQKILCELSGHINLFVDVNKHLFDGE
  VCAINHFVKLLKDIIICFLNIRAKNVAQNPLKHHSERTDMKTLSRKHWSSVQDYKCSSFANTSSKFRHLLSNDGY
  PFK

• Structural information:
  • Interpro: IPR006612  IPR038441  IPR021896  
  • Prosite: PS50950
  • STRING: ENSP00000305533
• Other Databases: GeneCards:  THAP9  Malacards:  THAP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0006313	transposition, DNA-mediated	IBA	biological process
GO:0004803	transposase activity	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0015074	DNA integration	IDA	biological process
GO:0006313	transposition, DNA-mediated	IDA	biological process
GO:0004803	transposase activity	IDA	molecular function
GO:0006310	DNA recombination	IDA	biological process
GO:0004803	transposase activity	IEA	molecular function
GO:0006313	transposition, DNA-mediated	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0015074	DNA integration	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray