• Gene id: 92715

Gene Summary

• Gene Symbol: DPH7   Gene   UCSC   Ensembl
• Aliases: C9orf112, RRT2, WDR85
• Gene name: diphthamide biosynthesis 7
• Alternate names: diphthine methyltransferase, WD repeat-containing protein 85,
• Gene location: 9q34.3 (137578924: 137554443)     Exons: 13     NC_000009.12
• Gene summary(Entrez): Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A
• OMIM: 617206

Protein Summary

• Protein general information: Q9BTV6  
  • Name: Diphthine methyltransferase (EC 3.1.1.97) (Diphthamide biosynthesis protein 7) (WD repeat containing protein 85)
  • Length: 452  
  • Mass: 50575
• Sequence:

  MMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGMEVKEPQVRLGRLFLYSFNDNN
  SIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEKSHVLEPLSSLALEEQCLALSLDWS
  TGKTGRAGDQPLKIISSDSTGQLHLLMVNETRPRLQKVASWQAHQFEAWIAAFNYWHPEIVYSGGDDGLLRGWDT
  RVPGKFLFTSKRHTMGVCSIQSSPHREHILATGSYDEHILLWDTRNMKQPLADTPVQGGVWRIKWHPFHHHLLLA
  ACMHSGFKILNCQKAMEERQEATVLTSHTLPDSLVYGADWSWLLFRSLQRAPSWSFPSNLGTKTADLKGASELPT
  PCHECREDNDGEGHARPQSGMKPLTEGMRKNGTWLQATAATTRDCGVNPEEADSAFSLLATCSFYDHALHLWEWE
  GN

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000277540
• Other Databases: GeneCards:  DPH7  Malacards:  DPH7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0061685	diphthine methylesterase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq