• Gene id: 51611

Gene Summary

• Gene Symbol: DPH5   Gene   UCSC   Ensembl
• Aliases: AD-018, CGI-30, HSPC143, NPD015
• Gene name: diphthamide biosynthesis 5
• Alternate names: diphthine methyl ester synthase, DPH5 homolog, diphthamide biosynthesis methyltransferase, diphthine synthase, protein x 0011,
• Gene location: 1p21.2 (101025805: 100975217)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheri
• OMIM: 611075

Protein Summary

• Protein general information: Q9H2P9  
  • Name: Diphthine methyl ester synthase (EC 2.1.1.314) (Diphthamide biosynthesis methyltransferase)
  • Length: 285  
  • Mass: 31651
• Sequence:

  MLYLIGLGLGDAKDITVKGLEVVRRCSRVYLEAYTSVLTVGKEALEEFYGRKLVVADREEVEQEADNILKDADIS
  DVAFLVVGDPFGATTHSDLVLRATKLGIPYRVIHNASIMNAVGCCGLQLYKFGETVSIVFWTDTWRPESFFDKVK
  KNRQNGMHTLCLLDIKVKEQSLENLIKGRKIYEPPRYMSVNQAAQQLLEIVQNQRIRGEEPAVTEETLCVGLARV
  GADDQKIAAGTLRQMCTVDLGEPLHSLIITGGSIHPMEMEMLSLFSIPENSSESQSINGL

• Structural information:
  • Interpro: IPR000878  IPR035996  IPR014777  IPR014776  IPR004551  
  • CDD: cd11647
  • STRING: ENSP00000359127
• Other Databases: GeneCards:  DPH5  Malacards:  DPH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004164	diphthine synthase activity	IBA	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA	biological process
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process
GO:0004164	diphthine synthase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0004164	diphthine synthase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS	biological process
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0004164	diphthine synthase activity	NAS	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881