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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 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. Diseases associated with DPH6 include Spastic Paraplegia 11, Autosomal Recessive. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. 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

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
GH15H035544 1.3 ENCODE dbSUPER 11.6 -1.4 -1411 6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 AQR PRELID1P4 DPH6 GC15P035618
GH15H035696 1.4 FANTOM5 Ensembl ENCODE 10.7 -151.8 -151810 3 FOXA2 ATF1 RAD21 CHAMP1 ELK1 RCOR1 FOS ATF7 ZNF654 CEBPB DPH6 DPH6-AS1 GC15P035699 PIR55827
GH15H035690 1.1 Ensembl ENCODE 10.8 -145.9 -145945 4 TFAP4 PKNOX1 FOXA2 JUN CEBPG RAD21 RARA ZFHX2 EGR1 RERE AQR DPH6-AS1 DPH6 RPL36AP8 GC15P035699 PIR55827
GH15H034701 0.7 dbSUPER 10.9 +844.3 844345 1 BCOR ZBTB21 CEBPB ZMYM3 CEBPG ZIC2 ZNF507 ZNF316 MAFF ZNF629 PRELID1P4 GJD2 LOC101928174 DPH6 LOC101929988 GOLGA8A ACTC1 LINC02252
GH15H035522 0.5 ENCODE 11 +24.1 24088 0 MAX HNF4A RAD21 NR2F2 DPH6-AS1 DPH6 HNRNPA1P45
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000074912 122 1801 HDGF ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 ZHX2

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

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

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

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 EXP,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

  • Applied Biological Materials Clones for DPH6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for DPH6 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 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 Nutra Agonist 0

(2) 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
Diphthine
genes like me logo Genes that share compounds with DPH6: view

Transcripts for DPH6 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DPH6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

DPH6

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

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 , 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
chimpanzee
(Pan troglodytes)
Mammalia ATPBD4 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia DPH6 33 34
  • 93.73 (n)
dog
(Canis familiaris)
Mammalia DPH6 33 34
  • 93.56 (n)
mouse
(Mus musculus)
Mammalia Dph6 33 16 34
  • 86.09 (n)
rat
(Rattus norvegicus)
Mammalia Dph6 33
  • 86.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPH6 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH6 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATPBD4 33 34
  • 79.51 (n)
lizard
(Anolis carolinensis)
Reptilia DPH6 34
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph6 33
  • 70.9 (n)
Str.6583 33
zebrafish
(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)
worm
(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)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL164W 33
  • 53.47 (n)
corn
(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

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
rs1000004401 -- 35,283,750(+) GGGCA(C/T)AGATA intron-variant
rs1000008461 -- 35,343,901(+) TATGA(C/T)GTTAC intron-variant
rs1000010502 -- 35,255,298(+) CCCCT(C/G)AAATA intron-variant
rs1000012488 -- 35,512,752(+) TAAAA(C/T)ATAAA intron-variant
rs1000017630 -- 35,476,309(+) ACTGA(G/T)CTCTT 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

MalaCards: The human disease database

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

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

Relevant External Links for DPH6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for DPH6 Gene

Sources for DPH6 Gene

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