• Gene id: 83475

Gene Summary

• Gene Symbol: DOHH   Gene   UCSC   Ensembl
• Aliases: HLRC1, hDOHH
• Gene name: deoxyhypusine hydroxylase
• Alternate names: deoxyhypusine hydroxylase, HEAT-like (PBS lyase) repeat containing 1, HEAT-like repeat-containing protein 1, deoxyhypusine dioxygenase, deoxyhypusine hydroxylase/monooxygenase, deoxyhypusine monooxygenase,
• Gene location: 19p13.3 (3500673: 3490823)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initi
• OMIM: 611262

Protein Summary

• Protein general information: Q9BU89  
  • Name: Deoxyhypusine hydroxylase (hDOHH) (EC 1.14.99.29) (Deoxyhypusine dioxygenase) (Deoxyhypusine monooxygenase) (HEAT like repeat containing protein 1)
  • Length: 302  
  • Mass: 32904
• Sequence:

  MVTEQEVDAIGQTLVDPKQPLQARFRALFTLRGLGGPGAIAWISQAFDDDSALLKHELAYCLGQMQDARAIPMLV
  DVLQDTRQEPMVRHEAGEALGAIGDPEVLEILKQYSSDPVIEVAETCQLAVRRLEWLQQHGGEPAAGPYLSVDPA
  PPAEERDVGRLREALLDESRPLFERYRAMFALRNAGGEEAALALAEGLHCGSALFRHEVGYVLGQLQHEAAVPQL
  AAALARCTENPMVRHECAEALGAIARPACLAALQAHADDPERVVRESCEVALDMYEHETGRAFQYADGLEQLRGA
  PS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR027517  IPR021133  IPR004155  
  • Prosite: PS50077
  • PDB: 4D4Z 4D50
  • PDBsum: 4D4Z 4D50
  • STRING: ENSP00000398882
• Other Databases: GeneCards:  DOHH  Malacards:  DOHH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0019135	deoxyhypusine monooxygenase activity	IBA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0005506	iron ion binding	IMP	molecular function
GO:0005506	iron ion binding	IMP	molecular function
GO:0019135	deoxyhypusine monooxygenase activity	IMP	molecular function
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IMP	biological process
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IMP	biological process
GO:0019135	deoxyhypusine monooxygenase activity	IMP	molecular function
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IEA	biological process
GO:0019135	deoxyhypusine monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019135	deoxyhypusine monooxygenase activity	IEA	molecular function
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IEA	biological process
GO:0019135	deoxyhypusine monooxygenase activity	IEA	molecular function
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IEA	biological process
GO:0019135	deoxyhypusine monooxygenase activity	IMP	molecular function
GO:0008612	peptidyl-lysine modification to peptidyl-hypusine	IMP	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq