• Gene id: 90326

Gene Summary

• Gene Symbol: THAP3   Gene   UCSC   Ensembl
• Gene name: THAP domain containing 3
• Alternate names: THAP domain-containing protein 3, THAP domain containing, apoptosis associated protein 3,
• Gene location: 1p36.31 (6624615: 6635585)     Exons: 8     NC_000001.11
• OMIM: 609831

Protein Summary

• Protein general information: Q8WTV1  
  • Name: THAP domain containing protein 3
  • Length: 239  
  • Mass: 27059
  • Tissue specificity: Highly expressed in heart, skeletal muscle and placenta. Weaker expression in brain, kidney and liver. {ECO
• Sequence:

  MPKSCAARQCCNRYSSRRKQLTFHRFPFSRPELLKEWVLNIGRGNFKPKQHTVICSEHFRPECFSAFGNRKNLKH
  NAVPTVFAFQDPTQQVRENTDPASERGNASSSQKEKVLPEAGAGEDSPGRNMDTALEELQLPPNAEGHVKQVSPR
  RPQATEAVGRPTGPAGLRRTPNKQPSDHSYALLDLDSLKKKLFLTLKENEKLRKRLQAQRLVMRRMSSRLRACKG
  HQGLQARLGPEQQS

• Structural information:
  • Interpro: IPR026520  IPR006612  IPR038441  
  • Prosite: PS50950
  • STRING: ENSP00000054650
• Other Databases: GeneCards:  THAP3  Malacards:  THAP3

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:0003676	nucleic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq