Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DPH6 Gene

Aliases for DPH6 Gene

  • Diphthamine Biosynthesis 6 2 3 5
  • ATP-Binding Domain-Containing Protein 4 3 4
  • Diphthine--Ammonia Ligase 2 3
  • Diphthamide Synthetase 3 4
  • ATP Binding Domain 4 2 3
  • Diphthamide Synthase 3 4
  • Protein DPH6 Homolog 3 4
  • ATPBD4 3 4
  • DPH6 Homolog (S. Cerevisiae) 2
  • DPH6 Homolog 3
  • EC 6.3.1.14 4

External Ids for DPH6 Gene

Previous HGNC Symbols for DPH6 Gene

  • ATPBD4

Previous GeneCards Identifiers for DPH6 Gene

  • GC15M035510

Summaries for DPH6 Gene

GeneCards Summary for DPH6 Gene

DPH6 (Diphthamine Biosynthesis 6) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include diphthine-ammonia ligase activity.

UniProtKB/Swiss-Prot for DPH6 Gene

  • Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPH6 Gene

Genomics for DPH6 Gene

Regulatory Elements for DPH6 Gene

Enhancers for DPH6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around DPH6 on UCSC Golden Path with GeneCards custom track

Promoters for DPH6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for DPH6 Gene

Chromosome:
15
Start:
35,217,345 bp from pter
End:
35,546,222 bp from pter
Size:
328,878 bases
Orientation:
Minus strand

Genomic View for DPH6 Gene

Genes around DPH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH6 Gene

Proteins for DPH6 Gene

  • Protein details for DPH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L8W6-DPH6_HUMAN
    Recommended name:
    Diphthine--ammonia ligase
    Protein Accession:
    Q7L8W6
    Secondary Accessions:
    • B3KWG1
    • Q96HJ6

    Protein attributes for DPH6 Gene

    Size:
    267 amino acids
    Molecular mass:
    30307 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • When transfected in S.cerevisiae, able to restore diphthamide biosynthesis in a strain lacking DPH6.

    Alternative splice isoforms for DPH6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPH6 Gene

Post-translational modifications for DPH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DPH6 Gene

No data available for DME Specific Peptides for DPH6 Gene

Domains & Families for DPH6 Gene

Protein Domains for DPH6 Gene

Suggested Antigen Peptide Sequences for DPH6 Gene

Graphical View of Domain Structure for InterPro Entry

Q7L8W6

UniProtKB/Swiss-Prot:

DPH6_HUMAN :
  • Belongs to the Diphthine--ammonia ligase family.
Family:
  • Belongs to the Diphthine--ammonia ligase family.
genes like me logo Genes that share domains with DPH6: view

No data available for Gene Families for DPH6 Gene

Function for DPH6 Gene

Molecular function for DPH6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + diphthine-[translation elongation factor 2] + NH(3) = AMP + diphosphate + diphthamide-[translation elongation factor 2].
UniProtKB/Swiss-Prot Function:
Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity).

Enzyme Numbers (IUBMB) for DPH6 Gene

Gene Ontology (GO) - Molecular Function for DPH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0017178 diphthine-ammonia ligase activity TAS 23169644
genes like me logo Genes that share ontologies with DPH6: view
genes like me logo Genes that share phenotypes with DPH6: view

Animal Models for DPH6 Gene

MGI Knock Outs for DPH6:
  • Dph6 tm1a(KOMP)Wtsi

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DPH6 Gene

Localization for DPH6 Gene

Gene Ontology (GO) - Cellular Components for DPH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPH6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for DPH6 Gene

Pathways & Interactions for DPH6 Gene

genes like me logo Genes that share pathways with DPH6: view

UniProtKB/Swiss-Prot Q7L8W6-DPH6_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Interacting Proteins for DPH6 Gene

Gene Ontology (GO) - Biological Process for DPH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine TAS 23169644
GO:0031647 regulation of protein stability IMP 24270810
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with DPH6: view

No data available for SIGNOR curated interactions for DPH6 Gene

Drugs & Compounds for DPH6 Gene

(3) Drugs for DPH6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Diphthamide Experimental Pharma 0

(3) Additional Compounds for DPH6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Diphthine
genes like me logo Genes that share compounds with DPH6: view

Transcripts for DPH6 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPH6 Gene

No ASD Table

Relevant External Links for DPH6 Gene

GeneLoc Exon Structure for
DPH6
ECgene alternative splicing isoforms for
DPH6

Expression for DPH6 Gene

mRNA expression in normal human tissues for DPH6 Gene

Protein differential expression in normal tissues from HIPED for DPH6 Gene

This gene is overexpressed in Heart (42.0), Bone (10.0), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DPH6 Gene



NURSA nuclear receptor signaling pathways regulating expression of DPH6 Gene:

DPH6
genes like me logo Genes that share expression patterns with DPH6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DPH6 Gene

Orthologs for DPH6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPH6 34
  • 93.73 (n)
  • 94.36 (a)
DPH6 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPH6 34
  • 93.56 (n)
  • 94.21 (a)
DPH6 35
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dph6 34
  • 86.09 (n)
  • 87.97 (a)
Dph6 16
Dph6 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dph6 34
  • 86.09 (n)
  • 87.97 (a)
oppossum
(Monodelphis domestica)
Mammalia DPH6 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPH6 35
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATPBD4 35
  • 99 (a)
OneToOne
ATPBD4 34
  • 99.5 (n)
  • 99.25 (a)
chicken
(Gallus gallus)
Aves ATPBD4 35
  • 29 (a)
OneToOne
ATPBD4 34
  • 79.51 (n)
  • 80 (a)
lizard
(Anolis carolinensis)
Reptilia DPH6 35
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph6 34
  • 70.9 (n)
  • 75.79 (a)
Str.6583 34
zebrafish
(Danio rerio)
Actinopterygii dph6 34
  • 68.27 (n)
  • 72.8 (a)
dph6 35
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001943 34
  • 57.18 (n)
  • 63.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1578 34
  • 58.27 (n)
  • 61.38 (a)
CG1578 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea E01A2.5 34
  • 59.54 (n)
  • 58.87 (a)
E01A2.5 35
  • 58 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL164W 34
  • 53.47 (n)
  • 50.8 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16984g 34
  • 56.18 (n)
  • 52.11 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH6 34
  • 53.65 (n)
  • 52.19 (a)
-- 35
  • 18 (a)
OneToOne
DPH6 37
corn
(Zea mays)
Liliopsida Zm.17755 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02670 34
  • 48.28 (n)
  • 43.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug71 34
  • 58.55 (n)
  • 56.84 (a)
Species where no ortholog for DPH6 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPH6 Gene

ENSEMBL:
Gene Tree for DPH6 (if available)
TreeFam:
Gene Tree for DPH6 (if available)

Paralogs for DPH6 Gene

No data available for Paralogs for DPH6 Gene

Variants for DPH6 Gene

Sequence variations from dbSNP and Humsavar for DPH6 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs34907758 - 35,538,464(+) CAGAC(C/G/T)CCACT reference, missense
VAR_031404 -
rs2622747 -- 35,311,961(+) CAAAC(A/C)CGAAT intron-variant
rs2622749 -- 35,330,321(+) TTTTA(G/T)GAATG intron-variant
rs2879598 -- 35,400,454(+) aataa(A/G)taatA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DPH6 Gene

Variant ID Type Subtype PubMed ID
esv2665398 CNV deletion 23128226
esv2672880 CNV deletion 23128226
esv274981 CNV loss 21479260
esv3569442 CNV gain 25503493
esv3636135 CNV loss 21293372
esv3636136 CNV loss 21293372
esv3636138 CNV loss 21293372
esv996040 CNV loss 20482838
nsv1043818 CNV loss 25217958
nsv1050949 CNV loss 25217958
nsv1489 CNV insertion 18451855
nsv569156 CNV loss 21841781
nsv569157 CNV loss 21841781
nsv569158 CNV loss 21841781
nsv832968 CNV loss 17160897
nsv984053 CNV duplication 23825009

Variation tolerance for DPH6 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPH6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPH6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPH6 Gene

Disorders for DPH6 Gene

Relevant External Links for DPH6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPH6

No disorders were found for DPH6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DPH6 Gene

Publications for DPH6 Gene

  1. Chemogenomic approach identified yeast YLR143W as diphthamide synthetase. (PMID: 23169644) Su X. … Lin H. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3 4 65
  2. The amidation step of diphthamide biosynthesis in yeast requires DPH6, a gene identified through mining the DPH1-DPH5 interaction network. (PMID: 23468660) Uthman S. … Schaffrath R. (PLoS Genet. 2013) 2 3 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65

Products for DPH6 Gene

Sources for DPH6 Gene

Content
Loading form....