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Aliases for DDX59 Gene

Aliases for DDX59 Gene

  • DEAD-Box Helicase 59 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 59 2 3 5
  • Zinc Finger HIT Domain-Containing Protein 5 3 4
  • DEAD Box Protein 59 3 4
  • ZNHIT5 3 4
  • EC 3.6.4.13 4
  • EC 3.6.1 63
  • OFD5 3

External Ids for DDX59 Gene

Previous GeneCards Identifiers for DDX59 Gene

  • GC01M197325
  • GC01M198859
  • GC01M171779

Summaries for DDX59 Gene

GeneCards Summary for DDX59 Gene

DDX59 (DEAD-Box Helicase 59) is a Protein Coding gene. Diseases associated with DDX59 include orofaciodigital syndrome v and orofaciodigital syndrome. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DDX23.

Gene Wiki entry for DDX59 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX59 Gene

Genomics for DDX59 Gene

Regulatory Elements for DDX59 Gene

Enhancers for DDX59 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DDX59 on UCSC Golden Path with GeneCards custom track

Promoters for DDX59 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DDX59 on UCSC Golden Path with GeneCards custom track

Genomic Location for DDX59 Gene

Chromosome:
1
Start:
200,623,896 bp from pter
End:
200,669,998 bp from pter
Size:
46,103 bases
Orientation:
Minus strand

Genomic View for DDX59 Gene

Genes around DDX59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX59 Gene

Proteins for DDX59 Gene

  • Protein details for DDX59 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1V6-DDX59_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX59
    Protein Accession:
    Q5T1V6
    Secondary Accessions:
    • Q6PJL2
    • Q8IVW3
    • Q9H0W3

    Protein attributes for DDX59 Gene

    Size:
    619 amino acids
    Molecular mass:
    68810 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14183.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 433.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDX59 Gene

    Alternative splice isoforms for DDX59 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX59 Gene

Proteomics data for DDX59 Gene at MOPED

Selected DME Specific Peptides for DDX59 Gene

Post-translational modifications for DDX59 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDX59 Gene

Gene Families for DDX59 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T1V6

UniProtKB/Swiss-Prot:

DDX59_HUMAN :
  • The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
  • Belongs to the DEAD box helicase family. DDX59 subfamily.
  • Contains 1 HIT-type zinc finger.
Domain:
  • The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. DDX59 subfamily.
Similarity:
  • Contains 1 HIT-type zinc finger.
genes like me logo Genes that share domains with DDX59: view

Function for DDX59 Gene

Molecular function for DDX59 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for DDX59 Gene

Gene Ontology (GO) - Molecular Function for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DDX59: view
genes like me logo Genes that share phenotypes with DDX59: view

Human Phenotype Ontology for DDX59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DDX59 Gene

Localization for DDX59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX59 Gene

Cytoplasm. Nucleus. Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDX59 Gene COMPARTMENTS Subcellular localization image for DDX59 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DDX59: view

Pathways & Interactions for DDX59 Gene

SuperPathways for DDX59 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX59 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DDX59 Gene

Drugs & Compounds for DDX59 Gene

(1) Drugs for DDX59 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for DDX59 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with DDX59: view

Transcripts for DDX59 Gene

Unigene Clusters for DDX59 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 59:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDX59 Gene

No ASD Table

Relevant External Links for DDX59 Gene

GeneLoc Exon Structure for
DDX59
ECgene alternative splicing isoforms for
DDX59

Expression for DDX59 Gene

mRNA expression in normal human tissues for DDX59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX59 Gene

This gene is overexpressed in Testis (42.8), Placenta (8.9), and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDX59 Gene



SOURCE GeneReport for Unigene cluster for DDX59 Gene Hs.497332

mRNA Expression by UniProt/SwissProt for DDX59 Gene

Q5T1V6-DDX59_HUMAN
Tissue specificity: Expressed in fibroblasts (at protein level).
genes like me logo Genes that share expression patterns with DDX59: view

Protein tissue co-expression partners for DDX59 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for DDX59 Gene

Orthologs for DDX59 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX59 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DDX59 35
  • 74.26 (n)
  • 77.22 (a)
DDX59 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDX59 35
  • 88.42 (n)
  • 89.98 (a)
DDX59 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx59 35
  • 81.53 (n)
  • 83.68 (a)
Ddx59 16
Ddx59 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDX59 35
  • 99.19 (n)
  • 99.03 (a)
DDX59 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddx59 35
  • 81.5 (n)
  • 84.14 (a)
oppossum
(Monodelphis domestica)
Mammalia DDX59 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX59 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX59 35
  • 72.34 (n)
  • 74.07 (a)
DDX59 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDX59 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx59 35
  • 65.69 (n)
  • 65.18 (a)
Str.16783 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3767 35
zebrafish
(Danio rerio)
Actinopterygii ddx59 35
  • 62 (n)
  • 64.08 (a)
ddx59 36
  • 61 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP28 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02065 35
  • 52.48 (n)
  • 47.17 (a)
Species with no ortholog for DDX59:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DDX59 Gene

ENSEMBL:
Gene Tree for DDX59 (if available)
TreeFam:
Gene Tree for DDX59 (if available)

Paralogs for DDX59 Gene

Paralogs for DDX59 Gene

genes like me logo Genes that share paralogs with DDX59: view

Variants for DDX59 Gene

Sequence variations from dbSNP and Humsavar for DDX59 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3795634 - 200,666,422(-) AACCC(A/G)TCTGT nc-transcript-variant, reference, missense
rs17854157 - 200,649,125(+) GATAT(G/T)CTTTT nc-transcript-variant, reference, missense
VAR_035842 A breast cancer sample
VAR_070198 Orofaciodigital syndrome 5 (OFD5)
VAR_070199 Orofaciodigital syndrome 5 (OFD5)

Structural Variations from Database of Genomic Variants (DGV) for DDX59 Gene

Variant ID Type Subtype PubMed ID
nsv873095 CNV Gain 21882294

Variation tolerance for DDX59 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.96; 84.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDX59 Gene

HapMap Linkage Disequilibrium report
DDX59
Human Gene Mutation Database (HGMD)
DDX59

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX59 Gene

Disorders for DDX59 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX59 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome v
  • ofd5
orofaciodigital syndrome
  • orofaciodigital syndrome i
- elite association - COSMIC cancer census association via MalaCards
Search DDX59 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDX59_HUMAN
  • Orofaciodigital syndrome 5 (OFD5) [MIM:174300]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. {ECO:0000269 PubMed:23972372}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDX59

Genetic Association Database (GAD)
DDX59
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDX59
genes like me logo Genes that share disorders with DDX59: view

No data available for Genatlas for DDX59 Gene

Publications for DDX59 Gene

  1. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. (PMID: 23972372) Shamseldin H.E. … Alkuraya F.S. (Am. J. Hum. Genet. 2013) 3 4 67
  2. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  4. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3

Products for DDX59 Gene

Sources for DDX59 Gene

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