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Aliases for DPH5 Gene

Aliases for DPH5 Gene

  • Diphthamide Biosynthesis 5 2 3 5
  • Diphthamide Biosynthesis Methyltransferase 3 4
  • Diphthine Methyl Ester Synthase 3
  • DPH5 Homolog (S. Cerevisiae) 2
  • Diphthine Synthase 3
  • Protein X 0011 3
  • DPH5 Homolog 3
  • EC 2.1.1.314 4
  • EC 2.1.1.98 56
  • HSPC143 3
  • AD-018 3
  • CGI-30 3
  • NPD015 3

External Ids for DPH5 Gene

Previous GeneCards Identifiers for DPH5 Gene

  • GC01M101168
  • GC01M101227
  • GC01M101455
  • GC01M099580

Summaries for DPH5 Gene

Entrez Gene Summary for DPH5 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 diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPH5 Gene

DPH5 (Diphthamide Biosynthesis 5) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and diphthine synthase activity.

UniProtKB/Swiss-Prot for DPH5 Gene

  • 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 methylation reactions represent the second step of diphthamide biosynthesis.

Gene Wiki entry for DPH5 Gene

Additional gene information for DPH5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPH5 Gene

Genomics for DPH5 Gene

GeneHancer (GH) Regulatory Elements for DPH5 Gene

Promoters and enhancers for DPH5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I101024 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.0 32 4 HDGF SMAD1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 DPH5 LOC102606465 GC01M100998 HNRNPA1P68 TRMT13 SLC30A7 ENSG00000235795 MFSD14A BRI3P1 SASS6
GH01I101234 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.2 -215.4 -215446 14.7 PKNOX1 SIN3A FEZF1 ZNF2 IRF4 YY1 ZNF213 ZNF143 SP3 JUNB ENSG00000260940 S1PR1 GC01M101240 GC01M101239 ENSG00000252765 DPH5 LOC102606465 LOC101928370
GH01I101257 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -235.6 -235557 9.1 PKNOX1 FOXA2 YBX1 FEZF1 ZNF2 YY1 ZNF766 SP5 REST SREBF1 ENSG00000252765 LOC102606465 DPH5 SLC30A7 GC01M101263 RPS20P6
GH01I101110 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -85.7 -85704 2.9 BRD4 ZNF639 SRF ATF1 L3MBTL2 E2F5 ZBTB40 GABPA ZNF766 GABPB1 LOC102606465 ENSG00000252765 DPH5 S1PR1 SLC30A7 GC01P101108 GC01P101137
GH01I101276 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11 -255.1 -255088 8.8 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 ZNF213 GATA2 ZNF548 FOS HNRNPA1P68 ENSG00000252765 LOC102606465 DPH5 SLC30A7 S1PR1 PPIAP7 LOC102723784
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DPH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DPH5 gene promoter:

Genomic Locations for DPH5 Gene

Genomic Locations for DPH5 Gene
chr1:100,989,623-101,026,088
(GRCh38/hg38)
Size:
36,466 bases
Orientation:
Minus strand
chr1:101,455,179-101,491,644
(GRCh37/hg19)

Genomic View for DPH5 Gene

Genes around DPH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH5 Gene

Proteins for DPH5 Gene

  • Protein details for DPH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2P9-DPH5_HUMAN
    Recommended name:
    Diphthine methyl ester synthase
    Protein Accession:
    Q9H2P9
    Secondary Accessions:
    • A8JZY6
    • D3DT62
    • Q9P017
    • Q9P0I4
    • Q9Y319

    Protein attributes for DPH5 Gene

    Size:
    285 amino acids
    Molecular mass:
    31651 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DPH5 Gene

neXtProt entry for DPH5 Gene

Selected DME Specific Peptides for DPH5 Gene

Q9H2P9:
  • RVYLEAYT
  • DITVKGLE
  • DVAFLVVGDPFGATTH
  • IHNASIMNA
  • DIKVKEQS
  • GLQLYKFG
  • ATTHSDL

Post-translational modifications for DPH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DPH5 Gene

Gene Families for DPH5 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9H2P9

UniProtKB/Swiss-Prot:

DPH5_HUMAN :
  • Belongs to the diphthine synthase family.
Family:
  • Belongs to the diphthine synthase family.
genes like me logo Genes that share domains with DPH5: view

Function for DPH5 Gene

Molecular function for DPH5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4 S-adenosyl-L-methionine + 2-((3S)-3-carboxy-3-aminopropyl)-L-histidine-[translation elongation factor 2] = 4 S-adenosyl-L-homocysteine + diphthine methyl ester-[translation elongation factor 2].
UniProtKB/Swiss-Prot 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 methylation reactions represent the second step of diphthamide biosynthesis.

Enzyme Numbers (IUBMB) for DPH5 Gene

Phenotypes From GWAS Catalog for DPH5 Gene

Gene Ontology (GO) - Molecular Function for DPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004164 diphthine synthase activity NAS 15485916
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DPH5: view

Phenotypes for DPH5 Gene

GenomeRNAi human phenotypes for DPH5:
genes like me logo Genes that share phenotypes with DPH5: view

Animal Model Products

miRNA for DPH5 Gene

miRTarBase miRNAs that target DPH5

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DPH5 Gene

Localization for DPH5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPH5 gene
Compartment Confidence
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPH5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DPH5 Gene

Pathways & Interactions for DPH5 Gene

genes like me logo Genes that share pathways with DPH5: view

UniProtKB/Swiss-Prot Q9H2P9-DPH5_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Gene Ontology (GO) - Biological Process for DPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine TAS,IBA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with DPH5: view

No data available for SIGNOR curated interactions for DPH5 Gene

Drugs & Compounds for DPH5 Gene

(1) Drugs for DPH5 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma Target 0

(4) Additional Compounds for DPH5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-(3-Carboxy-3-(methylammonio)propyl)-L-histidine
  • 1-Carboxy-3-(L-histidin-2-yl)-N-methylpropan-1-aminium
  • 2-[3-Carboxy-3-(methylammonio)propyl]-His
  • 2-[3-Carboxy-3-(methylammonio)propyl]-histidine
  • [3-[[4-(2-amino-2-carboxy-ethyl)-1H-imidazol-2-yl]]-1-carboxy- propyl]-methyl-ammonium
2-(3-carboxy-3-(trimethylammonio)propyl)-L-histidine
2-(3-Carboxy-3-aminopropyl)-L-histidine
  • 2-(3-Amino-3-carboxypropyl)-L-histidine
  • 2-Amino-4-[[4-(2-amino-2-carboxy-ethyl)-1H-imidazol-2-yl]] butanoate
  • 2-Amino-4-[[4-(2-amino-2-carboxy-ethyl)-1H-imidazol-2-yl]] butanoic acid
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
genes like me logo Genes that share compounds with DPH5: view

Transcripts for DPH5 Gene

Unigene Clusters for DPH5 Gene

DPH5 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPH5 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - - -
SP10: - - - - - - - -
SP11: - - - - - - -
SP12: - -
SP13: - -

Relevant External Links for DPH5 Gene

GeneLoc Exon Structure for
DPH5
ECgene alternative splicing isoforms for
DPH5

Expression for DPH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPH5 Gene

Protein differential expression in normal tissues from HIPED for DPH5 Gene

This gene is overexpressed in Monocytes (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DPH5 Gene



Protein tissue co-expression partners for DPH5 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPH5 Gene:

DPH5

SOURCE GeneReport for Unigene cluster for DPH5 Gene:

Hs.440776

Evidence on tissue expression from TISSUES for DPH5 Gene

  • Adrenal gland(4.3)
  • Nervous system(4.3)
  • Blood(4.1)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with DPH5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPH5 Gene

Orthologs for DPH5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPH5 33 34
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia DPH5 33 34
  • 92.16 (n)
dog
(Canis familiaris)
Mammalia DPH5 33 34
  • 91.64 (n)
rat
(Rattus norvegicus)
Mammalia Dph5 33
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Dph5 33 16 34
  • 87.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPH5 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH5 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-1610 34
  • 79 (a)
OneToOne
DPH5 33
  • 76.16 (n)
lizard
(Anolis carolinensis)
Reptilia DPH5 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph5 33
  • 68.8 (n)
Str.7197 33
African clawed frog
(Xenopus laevis)
Amphibia cgi-30-prov 33
zebrafish
(Danio rerio)
Actinopterygii dph5 33 34
  • 69.96 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13925 33
fruit fly
(Drosophila melanogaster)
Insecta Dph5 33 34
  • 59.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004412 33
  • 59.78 (n)
worm
(Caenorhabditis elegans)
Secernentea B0491.7 33 34
  • 61.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH5 33 34
  • 58.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22836g 33
  • 57.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR123W 33
  • 55.56 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G31790 33
  • 63.77 (n)
rice
(Oryza sativa)
Liliopsida Os03g0355800 33
  • 58.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dph5 33
  • 58.58 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07266 33
  • 55.85 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14906 33
Species where no ortholog for DPH5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPH5 Gene

ENSEMBL:
Gene Tree for DPH5 (if available)
TreeFam:
Gene Tree for DPH5 (if available)

Paralogs for DPH5 Gene

No data available for Paralogs for DPH5 Gene

Variants for DPH5 Gene

Sequence variations from dbSNP and Humsavar for DPH5 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000000812 -- 100,996,675(-) C/T intron_variant
rs1000150437 -- 101,007,620(-) C/T intron_variant
rs1000181166 -- 101,001,978(-) C/T intron_variant
rs1000399962 -- 101,006,162(-) C/T intron_variant
rs1000440778 -- 100,998,976(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DPH5 Gene

Variant ID Type Subtype PubMed ID
esv2668878 CNV deletion 23128226
esv3586958 CNV loss 21293372
esv3586959 CNV loss 21293372
esv3586960 CNV gain 21293372
nsv522064 CNV gain 19592680
nsv950523 CNV duplication 24416366
nsv998086 CNV gain 25217958

Variation tolerance for DPH5 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPH5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPH5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPH5 Gene

Disorders for DPH5 Gene

Additional Disease Information for DPH5

No disorders were found for DPH5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DPH5 Gene

Publications for DPH5 Gene

  1. A modified form of diphthamide causes immunotoxin resistance in a lymphoma cell line with a deletion of the WDR85 gene. (PMID: 23486472) Wei H … Pastan I (The Journal of biological chemistry 2013) 2 3 4 58
  2. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. (PMID: 15485916) Liu S … Leppla SH (Molecular and cellular biology 2004) 2 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 58
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for DPH5 Gene

Sources for DPH5 Gene

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