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 name Gene Name - the full gene name approved by the HGNC.
Diphthamide biosynthesis 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPH1
Synonyms (NCBI Gene) Gene synonyms aliases
DEDSSH, DPH2L, DPH2L1, OVCA1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
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
Show/Hide all(8)
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 IDs Other 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
603527 3003 ENSG00000108963
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
Tissue specificity 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:0000269|PubMed:
Sequence
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Synthesis of diphthamide-EEF2
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
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
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132 ClinVar
Trigonocephaly Trigonocephaly ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
3C syndrome Associate 26220823
Colorectal Neoplasms Associate 29145210
Congenital Abnormalities Associate 30877278
Cranioectodermal Dysplasia Associate 26220823
Craniofacial Abnormalities Associate 26220823
Developmental Disabilities Associate 30877278
Growth Disorders Associate 26220823, 30877278
Intellectual Disability Associate 26220823
Neoplasms Associate 29145210
Syndrome Associate 30877278