• Gene id: 89978

Gene Summary

• Gene Symbol: DPH6   Gene   UCSC   Ensembl
• Aliases: ATPBD4
• Gene name: diphthamine biosynthesis 6
• Alternate names: diphthine--ammonia ligase, ATP binding domain 4, ATP-binding domain-containing protein 4, DPH6 homolog, diphthamide synthase, diphthamide synthetase, protein DPH6 homolog,
• Gene location: 15q14 (35546192: 35217355)     Exons: 11     NC_000015.10
• OMIM: 618391

Protein Summary

• Protein general information: Q7L8W6  
  • Name: Diphthine ammonia ligase (EC 6.3.1.14) (ATP binding domain containing protein 4) (Diphthamide synthase) (Diphthamide synthetase) (Protein DPH6 homolog)
  • Length: 267  
  • Mass: 30307
• Sequence:

  MRVAALISGGKDSCYNMMQCIAAGHQIVALANLRPAENQVGSDELDSYMYQTVGHHAIDLYAEAMALPLYRRTIR
  GRSLDTRQVYTKCEGDEVEDLYELLKLVKEKEEVEGISVGAILSDYQRIRVENVCKRLNLQPLAYLWQRNQEDLL
  REMISSNIQAMIIKVAALGLDPDKHLGKTLDQMEPYLIELSKKYGVHVCGEGGEYETFTLDCPLFKKKIIVDSSE
  VVIHSADAFAPVAYLRFLELHLEDKVSSVPDNYRTSNYIYNF

• Structural information:
  • Interpro: IPR002761  IPR030662  IPR014729  
  • CDD: cd01994
  • STRING: ENSP00000256538
• Other Databases: GeneCards:  DPH6  Malacards:  DPH6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA	biological process
GO:0017178	diphthine-ammonia ligase activity	IBA	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS	biological process
GO:0017178	diphthine-ammonia ligase activity	TAS	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0017178	diphthine-ammonia ligase activity	IEA	molecular function
GO:0017178	diphthine-ammonia ligase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881