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Aliases for DDX59 Gene

Aliases for DDX59 Gene

  • DEAD-Box Helicase 59 2 3 5
  • Zinc Finger HIT Domain-Containing Protein 5 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 59 2 3
  • DEAD Box Protein 59 3 4
  • ZNHIT5 3 4
  • Probable ATP-Dependent RNA Helicase DDX59 3
  • EC 3.6.4.13 4
  • EC 3.6.1 56
  • 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. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DDX4.

Gene Wiki entry for DDX59 Gene

Additional gene information for DDX59 Gene

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

Genomics for DDX59 Gene

GeneHancer (GH) Regulatory Elements for DDX59 Gene

Promoters and enhancers for DDX59 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
GH01I200668 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 573.3 +0.0 31 3.5 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D LOC101929224 DDX59 KIF14
GH01I201498 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.5 -833.1 -833143 10.2 PKNOX1 FOXA2 ZFP64 NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CSRP1 IPO9-AS1 ELF3-AS1 IPO9 RNPEP ENSG00000273478 DDX59 RPS10P7 NAV1 ENSG00000235121
GH01I201153 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 25.6 -484.4 -484395 1.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 TMEM9 DDX59 RNPEP ENSG00000273478 ELF3-AS1 IGFN1 ASCL5 CACNA1S ENSG00000229821
GH01I200638 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.8 +28.9 28873 4.5 HDGF PKNOX1 ARNT SIN3A YBX1 POLR2B ZNF766 FOS ZNF263 JUNB DDX59 LOC101929224 KIF14
GH01I200627 Enhancer 1.3 FANTOM5 Ensembl ENCODE 29.7 +41.9 41895 1.9 HDGF PKNOX1 IRF4 CBX5 ZNF207 ATF7 BCLAF1 IKZF2 RUNX3 SMARCA5 DDX59 LOC101929224 KIF14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDX59 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDX59 gene promoter:

Genomic Locations for DDX59 Gene

Genomic Locations for DDX59 Gene
chr1:200,623,896-200,669,998
(GRCh38/hg38)
Size:
46,103 bases
Orientation:
Minus strand
chr1:200,593,024-200,639,126
(GRCh37/hg19)

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

Selected DME Specific Peptides for DDX59 Gene

Q5T1V6:
  • PPVLVFV
  • TPTRELA
  • IIATPGR
  • DVCSLECK
  • TPGRLLD
  • TGSGKTAAF
  • PTRELAIQ
  • TGVLGRG
  • IATPGRL

Post-translational modifications for DDX59 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDX59 Gene

Gene Families for DDX59 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
Domain:
  • The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
Family:
  • Belongs to the DEAD box helicase family. DDX59 subfamily.
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

Phenotypes From GWAS Catalog for DDX59 Gene

Gene Ontology (GO) - Molecular Function for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
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

CRISPR Products

Inhibitory RNA 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
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 DDX59 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0010501 RNA secondary structure unwinding IBA --
genes like me logo Genes that share ontologies with DDX59: view

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

Drugs & Compounds for DDX59 Gene

(3) Drugs for DDX59 Gene - From: HMDB

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

(1) 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
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DDX59 Gene



Protein tissue co-expression partners for DDX59 Gene

NURSA nuclear receptor signaling pathways regulating expression of DDX59 Gene:

DDX59

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).

Evidence on tissue expression from TISSUES for DDX59 Gene

  • Lung(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX59 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • skull
  • tongue
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with DDX59: view

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
chimpanzee
(Pan troglodytes)
Mammalia DDX59 33 34
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia DDX59 33 34
  • 88.42 (n)
mouse
(Mus musculus)
Mammalia Ddx59 33 16 34
  • 81.53 (n)
rat
(Rattus norvegicus)
Mammalia Ddx59 33
  • 81.5 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX59 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDX59 33 34
  • 74.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDX59 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX59 33 34
  • 72.34 (n)
lizard
(Anolis carolinensis)
Reptilia DDX59 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx59 33
  • 65.69 (n)
Str.16783 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3767 33
zebrafish
(Danio rerio)
Actinopterygii ddx59 33 34
  • 62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP28 34
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02065 33
  • 52.48 (n)
Species where no ortholog for DDX59 was found in the sources mined by GeneCards:
  • 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

Variants for DDX59 Gene

Sequence variations from dbSNP and Humsavar for DDX59 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs587777067 pathogenic, Orofaciodigital syndrome 5, not provided, Orofaciodigital syndrome 5 (OFD5) [MIM:174300] 200,650,639(-) A/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs886037652 pathogenic, Orofaciodigital syndrome 5, Orofaciodigital syndrome 5 (OFD5) [MIM:174300] 200,644,514(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
VAR_035842 A breast cancer sample p.Pro77Thr
rs1000012685 -- 200,664,889(-) G/A intron_variant
rs1000098125 -- 200,669,701(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3575438 CNV gain 25503493

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)

Additional Variant Information for DDX59 Gene

Human Gene Mutation Database (HGMD)
DDX59
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX59

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome v
  • ofd5
orofaciodigital syndrome
  • orofaciodigital syndromes
- 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.

Additional Disease Information for 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 HE … Alkuraya FS (American journal of human genetics 2013) 3 4 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. 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
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. EGFR and Ras regulate DDX59 during lung cancer development. (PMID: 29133145) Yang L … Zhang Y (Gene 2018) 3 58

Products for DDX59 Gene

Sources for DDX59 Gene

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