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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 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. Diseases associated with DPH6 include Spastic Paraplegia 11, Autosomal Recessive. 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-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).

Additional gene information for DPH6 Gene

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

Genomics for DPH6 Gene

GeneHancer (GH) Regulatory Elements for DPH6 Gene

Promoters and enhancers for DPH6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I035544 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.4 -1411 6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 DPH6 DPH6-AS1 AQR GC15P035618
GH15I035696 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.8 -151.8 -151810 3.8 ATF1 FOXA2 RAD21 CHAMP1 RCOR1 FOS ATF7 ZNF654 CEBPB ZEB2 GC15P035699 DPH6 DPH6-AS1 PIR55827
GH15I035690 Enhancer 1 Ensembl ENCODE 10.8 -145.9 -145944 4.2 MEIS2 TFAP4 PKNOX1 FOXA2 JUN CEBPG RAD21 RARA ZFHX2 RERE AQR DPH6 DPH6-AS1 RPL36AP8 GC15P035699 PIR55827
GH15I035522 Enhancer 0.5 ENCODE 11 +24.1 24087 0.2 RXRA MAX HNF4A RAD21 NR2F2 DPH6 DPH6-AS1 HNRNPA1P45
GH15I035140 Enhancer 0.9 Ensembl ENCODE 5.3 +404.0 403969 2.9 MEIS2 JUN CEBPG BATF RFX5 FOSL1 ZNF766 TRIM24 FOSL2 FOS DPH6 LOC441722 PIR59365 ENSG00000259336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DPH6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DPH6 Gene

Genomic Locations for DPH6 Gene
328,878 bases
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:
    Recommended name:
    Diphthine--ammonia ligase
    Protein Accession:
    Secondary Accessions:
    • B3KWG1
    • Q96HJ6

    Protein attributes for DPH6 Gene

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

    Alternative splice isoforms for DPH6 Gene


neXtProt entry for DPH6 Gene

Post-translational modifications for DPH6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DPH6 Gene

Domains & Families for DPH6 Gene

Gene Families for DPH6 Gene

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

Protein Domains for DPH6 Gene

Suggested Antigen Peptide Sequences for DPH6 Gene

Graphical View of Domain Structure for InterPro Entry



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

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

Phenotypes From GWAS Catalog 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:0016874 ligase activity IEA --
GO:0017178 diphthine-ammonia ligase activity TAS,EXP 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

Clone Products

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

Localization for DPH6 Gene

Subcellular locations from

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 DPH6 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

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 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.

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

(4) Drugs for DPH6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Phosphoric acid Approved Pharma 0
Diphthamide Experimental Pharma 0
ATP Investigational Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DPH6: view

Transcripts for DPH6 Gene

Clone Products

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

No ASD Table

Relevant External Links for DPH6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DPH6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for DPH6 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPH6 Gene:


Evidence on tissue expression from TISSUES for DPH6 Gene

  • Nervous system(4.4)
  • Bone marrow(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with DPH6: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia ATPBD4 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia DPH6 33 34
  • 93.73 (n)
(Canis familiaris)
Mammalia DPH6 33 34
  • 93.56 (n)
(Mus musculus)
Mammalia Dph6 33 16 34
  • 86.09 (n)
(Rattus norvegicus)
Mammalia Dph6 33
  • 86.09 (n)
(Ornithorhynchus anatinus)
Mammalia DPH6 34
  • 67 (a)
(Monodelphis domestica)
Mammalia DPH6 34
  • 43 (a)
(Gallus gallus)
Aves ATPBD4 33 34
  • 79.51 (n)
(Anolis carolinensis)
Reptilia DPH6 34
  • 30 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dph6 33
  • 70.9 (n)
Str.6583 33
(Danio rerio)
Actinopterygii dph6 33 34
  • 68.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1578 33 34
  • 58.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001943 33
  • 57.18 (n)
(Caenorhabditis elegans)
Secernentea E01A2.5 33 34
  • 59.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16984g 33
  • 56.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH6 33 36
  • 53.65 (n)
-- 34
  • 18 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL164W 33
  • 53.47 (n)
(Zea mays)
Liliopsida Zm.17755 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug71 33
  • 58.55 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02670 33
  • 48.28 (n)
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

Gene Tree for DPH6 (if available)
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 Variation AA Info Type
rs1000004401 -- 35,283,750(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000008461 -- 35,343,901(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000010502 -- 35,255,298(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000012488 -- 35,512,752(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000017630 -- 35,476,309(-) G/T genic_downstream_transcript_variant, 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)

Additional Variant Information for DPH6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DPH6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DPH6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 11, autosomal recessive
  • spg11
- elite association - COSMIC cancer census association via MalaCards
Search DPH6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPH6

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

No data available for 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 (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4 58
  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 genetics 2013) 2 3 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. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DPH6 Gene

Sources for DPH6 Gene

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