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DPH1 (diphthamide biosynthesis 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1801
Gene nameGene Name - the full gene name approved by the HGNC.
Diphthamide biosynthesis 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DPH1
SynonymsGene synonyms aliases
DEDSSH, DPH2L, DPH2L1, OVCA1
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs200530055 T>C Likely-pathogenic, uncertain-significance Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs730882250 T>C,G Pathogenic, likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs756128712 G>- Pathogenic Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs757167361 T>A,C,G Likely-pathogenic, pathogenic Coding sequence variant, missense variant, 5 prime UTR variant, initiator codon variant, non coding transcript variant
rs763506909 ->T Likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT004180 hsa-miR-197-3p Microarray 16822819
MIRT041212 hsa-miR-193b-3p CLASH 23622248
MIRT038600 hsa-miR-106b-3p CLASH 23622248
MIRT943845 hsa-miR-4649-3p CLIP-seq
MIRT1979507 hsa-miR-374a CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol TAS
GO:0016740 Function Transferase activity IEA
GO:0017183 Process Peptidyl-diphthamide biosynthetic process from peptidyl-histidine IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BZG8
Protein 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
Protein function Catalyzes the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:30877278). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01866 Diphthamide_syn
81 → 382
Putative diphthamide synthesis protein
 Family
Sequence
Sequence length 443
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Synthesis of diphthamide-EEF2
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 25918132
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental delay with short stature, dysmorphic features, and sparse hair DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome rs730882250, rs757167361, rs756128712 26220823, 25558065
Unknown
Disease name Disease term dbSNP ID References
Congenital epicanthus Congenital Epicanthus
Dandy-walker syndrome Dandy-Walker Syndrome
Dwarfism Dwarfism
Micrognathism Micrognathism

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