• Gene id: 9326

Gene Summary

• Gene Symbol: ZNHIT3   Gene   UCSC   Ensembl
• Aliases: Hit1, PEHO, TRIP3
• Gene name: zinc finger HIT-type containing 3
• Alternate names: zinc finger HIT domain-containing protein 3, HNF-4a coactivator, TR-interacting protein 3, TRIP-3, thyroid hormone receptor interactor 3, thyroid receptor interacting protein 3, zinc finger, HIT domain containing 3, zinc finger, HIT type 3,
• Gene location: 17q12 (36486626: 36499311)     Exons: 6     NC_000017.11
• OMIM: 604500

Protein Summary

• Protein general information: Q15649  
  • Name: Zinc finger HIT domain containing protein 3 (HNF 4a coactivator) (Thyroid hormone receptor interactor 3) (Thyroid receptor interacting protein 3) (TR interacting protein 3) (TRIP 3)
  • Length: 155  
  • Mass: 17607
• Sequence:

  MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIA
  DFLNSDEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPS
  QNEES

• Structural information:
  • Interpro: IPR007529  IPR040197  
  • Prosite: PS51083
  • PDB: 2YQQ 5L85
  • PDBsum: 2YQQ 5L85
  • STRING: ENSP00000484687
• Other Databases: GeneCards:  ZNHIT3  Malacards:  ZNHIT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070761	pre-snoRNP complex	IBA	cellular component
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0000492	box C/D snoRNP assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0048254	snoRNA localization	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0046966	thyroid hormone receptor binding	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process

Diseases

Associated diseases	References
PEHO syndrome	KEGG:H02252
PEHO syndrome	KEGG:H02252
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray