• Gene id: 285381

Gene Summary

• Gene Symbol: DPH3   Gene   UCSC   Ensembl
• Aliases: DELGIP, DELGIP1, DESR1, DPH3A, KTI11, ZCSL2
• Gene name: diphthamide biosynthesis 3
• Alternate names: DPH3 homolog, CSL-type zinc finger-containing protein 2, DPH3 homolog (KTI11, S. cerevisiae), DPH3, KTI11 homolog, DPH3A, KTI11 homolog A, Del-GEF interacting protein, deafness locus putative guanine nucleotide exchange factor interacting protein 1, delGEF-inter,
• Gene location: 3p25.1 (16264942: 16257060)     Exons: 3     NC_000003.12
• Gene summary(Entrez): This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified resi
• OMIM: 608959

Protein Summary

• Protein general information: Q96FX2  
  • Name: DPH3 homolog (CSL type zinc finger containing protein 2) (DelGEF interacting protein 1) (DelGIP1)
  • Length: 82  
  • Mass: 9240
  • Tissue specificity: Widely expressed with highest levels in small intestine, spleen, thymus, heart, liver and lung. {ECO
• Sequence:

  MAVFHDEVEIEDFQYDEDSETYFYPCPCGDNFSITKEDLENGEDVATCPSCSLIIKVIYDKDQFVCGETVPAPSA
  NKELVKC

• Structural information:
  • Protein Domains: (4..6-)
    (/note="DPH-type-MB)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00456"-)
  • Interpro: IPR007872  IPR036671  
  • Prosite: PS51074
  • PDB: 2JR7
  • PDBsum: 2JR7
  • STRING: ENSP00000419599
• Other Databases: GeneCards:  DPH3  Malacards:  DPH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0002098	tRNA wobble uridine modification	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process
GO:0050709	negative regulation of protein secretion	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051099	positive regulation of binding	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	ISS	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