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Aliases for DPH7 Gene

Aliases for DPH7 Gene

  • Diphthamide Biosynthesis 7 2 3 5
  • WD Repeat-Containing Protein 85 3 4
  • C9orf112 3 4
  • WDR85 3 4
  • Chromosome 9 Open Reading Frame 112 2
  • Diphthamide Biosynthesis Protein 7 4
  • Diphthine Methyltransferase 3
  • WD Repeat Domain 85 2
  • EC 3.1.1.97 4
  • RRT2 3

External Ids for DPH7 Gene

Previous HGNC Symbols for DPH7 Gene

  • C9orf112
  • WDR85

Previous GeneCards Identifiers for DPH7 Gene

  • GC09M140450

Summaries for DPH7 Gene

Entrez Gene Summary for DPH7 Gene

  • Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

GeneCards Summary for DPH7 Gene

DPH7 (Diphthamide Biosynthesis 7) is a Protein Coding gene. Diseases associated with DPH7 include Diphtheria. 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 diphthine methylesterase activity.

UniProtKB/Swiss-Prot for DPH7 Gene

  • Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).

Additional gene information for DPH7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPH7 Gene

Genomics for DPH7 Gene

GeneHancer (GH) Regulatory Elements for DPH7 Gene

Promoters and enhancers for DPH7 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
GH09I137577 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 577.3 +0.5 485 2.4 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 ZNF213 E2F8 DPH7 EHMT1 LOC651337 ANAPC2 EXD3 NDOR1 MAN1B1 ARRDC1-AS1 SNHG7 MRPL41
GH09I137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 40.5 +340.6 340629 9.9 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 TUBB4B EHMT1 SDCCAG3 ANAPC2 NDOR1 DPH7 INPP5E LOC651337 MAN1B1 SNHG7
GH09I137292 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.3 +278.5 278534 15.3 PKNOX1 FOXA2 ARNT ZFP64 SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 NRARP GC09M137300 EHMT1 DPH7 SDCCAG3 EXD3 NDOR1 INPP5E ANAPC2 MAN1B1
GH09I136725 Promoter/Enhancer 1.6 Ensembl ENCODE 50.6 +851.5 851487 4.1 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC SSRP1 SNHG7 ENSG00000281808 GC09M136753 GC09M136755 GC09M136756 SNORA17B SNORA17A DPH7 EHMT1 ANAPC2
GH09I137610 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 30.3 -36.6 -36629 10.5 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 POLR2B EHMT1 ANAPC2 DPH7 SNHG7 LOC651337 EXD3 MAN1B1 ZMYND19 ARRDC1-AS1 ARRDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DPH7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DPH7 Gene

Genomic Locations for DPH7 Gene
chr9:137,554,899-137,578,935
(GRCh38/hg38)
Size:
24,037 bases
Orientation:
Minus strand
chr9:140,449,356-140,473,387
(GRCh37/hg19)

Genomic View for DPH7 Gene

Genes around DPH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH7 Gene

Proteins for DPH7 Gene

  • Protein details for DPH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTV6-DPH7_HUMAN
    Recommended name:
    Diphthine methyltransferase
    Protein Accession:
    Q9BTV6
    Secondary Accessions:
    • Q96AB7

    Protein attributes for DPH7 Gene

    Size:
    452 amino acids
    Molecular mass:
    50575 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DPH7 Gene

Post-translational modifications for DPH7 Gene

  • Ubiquitination at Lys230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPH7 Gene

Domains & Families for DPH7 Gene

Gene Families for DPH7 Gene

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

Suggested Antigen Peptide Sequences for DPH7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BTV6

UniProtKB/Swiss-Prot:

DPH7_HUMAN :
  • Belongs to the DPH7 family.
Family:
  • Belongs to the DPH7 family.
genes like me logo Genes that share domains with DPH7: view

Function for DPH7 Gene

Molecular function for DPH7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Diphthine methyl ester-[translation elongation factor 2] + H(2)O = diphthine-[translation elongation factor 2] + methanol.
UniProtKB/Swiss-Prot Function:
Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).

Enzyme Numbers (IUBMB) for DPH7 Gene

Phenotypes From GWAS Catalog for DPH7 Gene

Gene Ontology (GO) - Molecular Function for DPH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061685 diphthine methylesterase activity IEA --
genes like me logo Genes that share ontologies with DPH7: view
genes like me logo Genes that share phenotypes with DPH7: view

Animal Model Products

CRISPR Products

miRNA for DPH7 Gene

miRTarBase miRNAs that target DPH7

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DPH7 Gene

Localization for DPH7 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 DPH7 gene
Compartment Confidence
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DPH7 Gene

Pathways & Interactions for DPH7 Gene

genes like me logo Genes that share pathways with DPH7: view

UniProtKB/Swiss-Prot Q9BTV6-DPH7_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Interacting Proteins for DPH7 Gene

Gene Ontology (GO) - Biological Process for DPH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine IMP 19965467
genes like me logo Genes that share ontologies with DPH7: view

No data available for SIGNOR curated interactions for DPH7 Gene

Drugs & Compounds for DPH7 Gene

No Compound Related Data Available

Transcripts for DPH7 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPH7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - - -
SP3:

Relevant External Links for DPH7 Gene

GeneLoc Exon Structure for
DPH7
ECgene alternative splicing isoforms for
DPH7

Expression for DPH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPH7 Gene

Protein differential expression in normal tissues from HIPED for DPH7 Gene

This gene is overexpressed in Rectum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DPH7 Gene



Protein tissue co-expression partners for DPH7 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPH7 Gene:

DPH7

Evidence on tissue expression from TISSUES for DPH7 Gene

  • Nervous system(4.7)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with DPH7: 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 DPH7 Gene

Orthologs for DPH7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPH7 34
  • 99 (a)
OneToOne
WDR85 33
  • 91.13 (n)
dog
(Canis familiaris)
Mammalia WDR85 33
  • 77.38 (n)
DPH7 34
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dph7 33 16 34
  • 74.51 (n)
cow
(Bos Taurus)
Mammalia DPH7 34
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH7 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPH7 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR85 33
  • 60.75 (n)
DPH7 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPH7 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr85 33
  • 57.04 (n)
zebrafish
(Danio rerio)
Actinopterygii dph7 33 34
  • 56.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002839 33
  • 51.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3184 33 34
  • 48.14 (n)
worm
(Caenorhabditis elegans)
Secernentea Y43F4B.9 34
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRT2 34 36
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G63010 33
  • 46.21 (n)
rice
(Oryza sativa)
Liliopsida Os04g0507900 33
  • 51.14 (n)
Species where no ortholog for DPH7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 DPH7 Gene

ENSEMBL:
Gene Tree for DPH7 (if available)
TreeFam:
Gene Tree for DPH7 (if available)

Paralogs for DPH7 Gene

(1) SIMAP similar genes for DPH7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DPH7: view

No data available for Paralogs for DPH7 Gene

Variants for DPH7 Gene

Sequence variations from dbSNP and Humsavar for DPH7 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs193920785 uncertain-significance, Malignant tumor of prostate 137,564,451(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000003980 -- 137,564,304(-) G/A/C intron_variant
rs1000098437 -- 137,564,074(-) C/A 3_prime_UTR_variant, intron_variant
rs1000141894 -- 137,578,977(-) C/A upstream_transcript_variant
rs1000239049 -- 137,559,426(-) GGGGG/GGGGGG genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DPH7 Gene

Variant ID Type Subtype PubMed ID
dgv13012n54 CNV loss 21841781
esv1095310 CNV deletion 17803354
esv1128934 CNV deletion 17803354
esv1327920 CNV insertion 17803354
esv2739459 CNV deletion 23290073
esv29235 CNV gain 19812545
nsv1110069 CNV deletion 24896259
nsv1144305 CNV deletion 24896259
nsv512130 CNV loss 21212237
nsv616023 CNV loss 21841781
nsv820440 CNV deletion 20802225
nsv831762 CNV loss 17160897
nsv831763 CNV loss 17160897
nsv951211 CNV deletion 24416366

Variation tolerance for DPH7 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPH7 Gene

Human Gene Mutation Database (HGMD)
DPH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPH7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPH7 Gene

Disorders for DPH7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DPH7 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
- elite association - COSMIC cancer census association via MalaCards
Search DPH7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPH7

genes like me logo Genes that share disorders with DPH7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPH7 Gene

Publications for DPH7 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. Haploid genetic screens in human cells identify host factors used by pathogens. (PMID: 19965467) Carette JE … Brummelkamp TR (Science (New York, N.Y.) 2009) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. 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

Products for DPH7 Gene

Sources for DPH7 Gene

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