Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51611
Gene name Gene Name - the full gene name approved by the HGNC.
Diphthamide biosynthesis 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPH5
Synonyms (NCBI Gene) Gene synonyms aliases
AD-018, CGI-30, HSPC143, NEDSFF, NPD015
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDSFF
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022425 hsa-miR-124-3p Microarray 18668037
MIRT052597 hsa-let-7a-5p CLASH 23622248
MIRT039181 hsa-miR-769-5p CLASH 23622248
MIRT944039 hsa-miR-3163 CLIP-seq
MIRT944040 hsa-miR-340 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004164 Function Diphthine synthase activity EXP 3346227
GO:0004164 Function Diphthine synthase activity NAS 15485916
GO:0005575 Component Cellular_component ND
GO:0005829 Component Cytosol TAS
GO:0017183 Process Peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611075 24270 ENSG00000117543
Protein
UniProt ID Q9H2P9
Protein name Diphthine methyl ester synthase (EC 2.1.1.314) (Diphthamide biosynthesis methyltransferase)
Protein function S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00590 TP_methylase 1 241 Tetrapyrrole (Corrin/Porphyrin) Methylases Domain
Sequence
Sequence length 285
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of diphthamide-EEF2
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Irritable Bowel Syndrome Irritable Bowel Syndrome GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Ulcerative colitis Ulcerative colitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Fibrocartilaginous embolism Associate 39953636
Intervertebral Disc Degeneration Associate 39953636