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Aliases for DPH1 Gene

Aliases for DPH1 Gene

  • Diphthamide Biosynthesis 1 2 3
  • Diphthamide Biosynthesis Protein 2 Homolog-Like 1 3 4
  • Ovarian Cancer-Associated Gene 1 Protein 3 4
  • Ovarian Tumor Suppressor Candidate 1 2 3
  • DPH1 Homolog 3 4
  • DPH2-Like 1 3 4
  • DPH-Like 1 3 4
  • DPH2L1 3 4
  • DPH2L 3 4
  • OVCA1 3 4
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis-Like 1 (S. Cerevisiae) 2
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis (Saccharomyces)-Like 1 3
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis-Like 1 3
  • Candidate Tumor Suppressor In Ovarian Cancer 1 3
  • Diphthamide Biosynthesis Protein 2-Like 4
  • DPH1 Homolog (S. Cerevisiae) 2
  • DPH-Like 1 (S. Cerevisiae) 2
  • HsDph1 4

External Ids for DPH1 Gene

Previous HGNC Symbols for DPH1 Gene

  • DPH2L
  • DPH2L1

Previous GeneCards Identifiers for DPH1 Gene

  • GC17P001881
  • GC17P001933

Summaries for DPH1 Gene

Entrez Gene Summary for DPH1 Gene

  • Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DPH1 Gene

DPH1 (Diphthamide Biosynthesis 1) is a Protein Coding gene. Diseases associated with DPH1 include ovarian cancer and cranioectodermal dysplasia 1. Among its related pathways are Transport to the Golgi and subsequent modification and Gamma carboxylation, hypusine formation and arylsulfatase activation.

UniProtKB/Swiss-Prot for DPH1 Gene

  • Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).

Gene Wiki entry for DPH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPH1 Gene

Genomics for DPH1 Gene

Regulatory Elements for DPH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DPH1 Gene

Chromosome:
17
Start:
2,030,110 bp from pter
End:
2,043,431 bp from pter
Size:
13,322 bases
Orientation:
Plus strand

Genomic View for DPH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH1 Gene

Proteins for DPH1 Gene

  • Protein details for DPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZG8-DPH1_HUMAN
    Recommended name:
    Diphthamide biosynthesis protein 1
    Protein Accession:
    Q9BZG8
    Secondary Accessions:
    • D3DTI3
    • Q16439
    • Q4VBA2
    • Q9BTW7
    • Q9UCY0

    Protein attributes for DPH1 Gene

    Size:
    443 amino acids
    Molecular mass:
    48805 Da
    Quaternary structure:
    • Interacts with DPH2 (By similarity). Interacts with RBM8A.

    Alternative splice isoforms for DPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPH1 Gene

Proteomics data for DPH1 Gene at MOPED

Post-translational modifications for DPH1 Gene

  • Ubiquitination at Lys 64, Lys 261, and Lys 288
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DPH1 Gene

Domains & Families for DPH1 Gene

Gene Families for DPH1 Gene

Protein Domains for DPH1 Gene

Suggested Antigen Peptide Sequences for DPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZG8

UniProtKB/Swiss-Prot:

DPH1_HUMAN :
  • Belongs to the DPH1/DPH2 family. DPH1 subfamily.
Family:
  • Belongs to the DPH1/DPH2 family. DPH1 subfamily.
genes like me logo Genes that share domains with DPH1: view

Function for DPH1 Gene

Molecular function for DPH1 Gene

UniProtKB/Swiss-Prot Function:
Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity).

Gene Ontology (GO) - Molecular Function for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DPH1: view
genes like me logo Genes that share phenotypes with DPH1: view

Animal Models for DPH1 Gene

MGI Knock Outs for DPH1:

Animal Model Products

miRNA for DPH1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DPH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DPH1 Gene

Localization for DPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPH1 Gene

Nucleus. Cytoplasm. Note=Punctate, primarily perinuclear localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPH1 Gene COMPARTMENTS Subcellular localization image for DPH1 gene
Compartment Confidence
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPH1: view

Pathways & Interactions for DPH1 Gene

genes like me logo Genes that share pathways with DPH1: view

UniProtKB/Swiss-Prot Q9BZG8-DPH1_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis

Gene Ontology (GO) - Biological Process for DPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IEA --
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with DPH1: view

No data available for SIGNOR curated interactions for DPH1 Gene

Drugs & Compounds for DPH1 Gene

(1) Drugs for DPH1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diphthamide Experimental Pharma 0

(2) Additional Compounds for DPH1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-(4-hydroxyphenyl)retinamide
retinoic acid
302-79-4
genes like me logo Genes that share compounds with DPH1: view

Transcripts for DPH1 Gene

Unigene Clusters for DPH1 Gene

DPH1 homolog (S. cerevisiae):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DPH1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - -
SP5: - -
SP6:
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for DPH1 Gene

GeneLoc Exon Structure for
DPH1
ECgene alternative splicing isoforms for
DPH1

Expression for DPH1 Gene

mRNA expression in normal human tissues for DPH1 Gene

Protein differential expression in normal tissues from HIPED for DPH1 Gene

This gene is overexpressed in Lymph node (23.9), Placenta (14.6), Liver (11.4), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPH1 Gene



SOURCE GeneReport for Unigene cluster for DPH1 Gene Hs.513856

mRNA Expression by UniProt/SwissProt for DPH1 Gene

Q9BZG8-DPH1_HUMAN
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.
genes like me logo Genes that share expression patterns with DPH1: view

Protein tissue co-expression partners for DPH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DPH1 Gene

Orthologs for DPH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPH1 35
  • 89.91 (n)
  • 91.96 (a)
DPH1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dph1 35
  • 84.63 (n)
  • 86.3 (a)
Dph1 16
Dph1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DPH1 35
  • 99.25 (n)
  • 99.32 (a)
DPH1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dph1 35
  • 84.55 (n)
  • 84.7 (a)
dog
(Canis familiaris)
Mammalia DPH1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPH1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPH1 35
  • 73.78 (n)
  • 73.87 (a)
DPH1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPH1 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph1 35
  • 66.67 (n)
  • 71.92 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10630 35
zebrafish
(Danio rerio)
Actinopterygii dph1 35
  • 69.77 (n)
  • 73.63 (a)
dph1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11652 35
  • 60.93 (n)
  • 61.95 (a)
CG11652 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dph-1 35
  • 54.88 (n)
  • 55.85 (a)
dph-1 36
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL229W 35
  • 55.15 (n)
  • 56.55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03971g 35
  • 55.52 (n)
  • 55.8 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH1 35
  • 53.89 (n)
  • 54.17 (a)
DPH1 36
  • 46 (a)
OneToOne
DPH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G62030 35
  • 55.13 (n)
  • 54.84 (a)
rice
(Oryza sativa)
Liliopsida Os02g0815600 35
  • 56.35 (n)
  • 52.76 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5667 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08503 35
  • 61.84 (n)
  • 60.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC3B8.05 35
  • 55.64 (n)
  • 60.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for DPH1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DPH1 Gene

ENSEMBL:
Gene Tree for DPH1 (if available)
TreeFam:
Gene Tree for DPH1 (if available)

Paralogs for DPH1 Gene

No data available for Paralogs for DPH1 Gene

Variants for DPH1 Gene

Sequence variations from dbSNP and Humsavar for DPH1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs903164 -- 2,036,208(+) CTCCT(A/G)GTTTC intron-variant
rs1131600 - 2,036,938(+) GTCCA(A/G)AGAGG reference, missense
rs1873975 -- 2,029,368(+) TGGGA(A/G)GCCAA upstream-variant-2KB
rs2273981 -- 2,030,087(-) ATCGG(C/T)CAGCG upstream-variant-2KB
rs2273982 -- 2,030,070(-) GGGGA(C/T)ACCCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DPH1 Gene

Variant ID Type Subtype PubMed ID
esv33335 CNV Loss 17666407
nsv907523 CNV Loss 21882294
dgv3034n71 CNV Loss 21882294
nsv827857 CNV Gain 20364138
esv23494 CNV Loss 19812545
esv2715488 CNV Deletion 23290073
esv2715489 CNV Deletion 23290073
nsv907526 CNV Loss 21882294
dgv3035n71 CNV Loss 21882294

Variation tolerance for DPH1 Gene

Residual Variation Intolerance Score: 94.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPH1 Gene

HapMap Linkage Disequilibrium report
DPH1
Human Gene Mutation Database (HGMD)
DPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPH1 Gene

Disorders for DPH1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DPH1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
ovarian cancer
  • tumor of the ovary
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
sotos syndrome 1
  • sotos syndrome
- elite association
Search DPH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DPH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPH1
genes like me logo Genes that share disorders with DPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPH1 Gene

Publications for DPH1 Gene

  1. 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 S.H. (Mol. Cell. Biol. 2004) 2 23 67
  2. A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. (PMID: 8603384) Phillips N.J. … Deaven L.L. (Cancer Lett. 1996) 2 23 67
  3. Diphthamide modification on eukaryotic elongation factor 2 is needed to assure fidelity of mRNA translation and mouse development. (PMID: 22869748) Liu S. … Leppla S.H. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 67
  4. [Chromosome arm 17p13.3: could HIC1 be the one ?]. (PMID: 16386221) Chopin V. … Leprince D. (Med Sci (Paris) 2006) 23 67
  5. OVCA2 is downregulated and degraded during retinoid-induced apoptosis. (PMID: 11979432) Prowse A.H. … Godwin A.K. (Int. J. Cancer 2002) 23 67

Products for DPH1 Gene

Sources for DPH1 Gene

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