• Gene id: 1801

Gene Summary

• Gene Symbol: DPH1   Gene   UCSC   Ensembl
• Aliases: DEDSSH, DPH2L, DPH2L1, OVCA1
• Gene name: diphthamide biosynthesis 1
• Alternate names: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1, DPH-like 1, DPH1 homolog, DPH2-like 1, S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1, candidate tumor suppressor in ovarian cancer 1, diphthamide biosynthesis protein 1, diphtham,
• Gene location: 17p13.3 (2030111: 2044966)     Exons: 1     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas ex
• OMIM: 603527

Protein Summary

• Protein general information: Q9BZG8  
  • Name: 2 (3 amino 3 carboxypropyl)histidine synthase subunit 1 (EC 2.5.1.108) (Diphthamide biosynthesis protein 1) (Diphtheria toxin resistance protein 1) (Ovarian cancer associated gene 1 protein) (S adenosyl L methionine:L histidine 3 amino 3 carboxypropyltran
  • Length: 443  
  • Mass: 48805
  • Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors. {ECO
• Sequence:

  MRRQVMAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKTIWRIQQAQAK
  KVALQMPEGLLLFACTIVDILERFTEAEVMVMGDVTYGACCVDDFTARALGADFLVHYGHSCLIPMDTSAQDFRV
  LYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKPLSPGEILGCTSPRLS
  KEVEAVVYLGDGRFHLESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQ
  GSPKILEHLESRLRALGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPKPLLTPYEAAVALRDI
  SWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSARPPSAVACEDCSCRDEKVAPLAP

• Structural information:
  • Interpro: IPR016435  IPR042263  IPR042264  IPR042265  IPR035435  
  • STRING: ENSP00000263083
• Other Databases: GeneCards:  DPH1  Malacards:  DPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IBA	biological process
GO:0016740	transferase activity	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:0008283	cell population proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0017183	peptidyl-diphthamide biosynthetic process from peptidyl-histidine	IEA	biological process

Diseases

Associated diseases	References
Developmental delay with short stature, dysmorphic facial features, and sparse hair	KEGG:H02368
Developmental delay with short stature, dysmorphic facial features, and sparse hair	KEGG:H02368
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)