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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 61
  • 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 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
GH01F200638 1.7 FANTOM5 Ensembl ENCODE 44.9 +28.9 28874 4.5 HDGF PKNOX1 ATF1 ARNT SIN3A ELK1 GATA2 FOS KLF13 ZNF263 DDX59 LOC101929224 KIF14
GH01F200668 1.2 ENCODE 39.5 +0.0 31 3.5 CREB3L1 MLX ZFP64 DMAP1 YY1 ZNF263 SP3 NFYC TBX21 MEF2D DDX59 LOC101929224 KIF14
GH01F200627 1.5 FANTOM5 Ensembl ENCODE 29.7 +41.8 41820 2.0 HDGF HDAC1 TBP PKNOX1 CBX3 TBL1XR1 EGR1 CBX5 ZNF207 CREM DDX59 LOC101929224 KIF14
GH01F201635 1.5 FANTOM5 Ensembl ENCODE 27.9 -968.7 -968690 6.9 BMI1 YBX1 ZNF366 ZNF207 FOS RCOR1 EGR2 ZNF263 ZNF680 ZBTB2 DDX59 ENSG00000235121 RNPEP ENSG00000273478 ENSG00000224818 NAV1 ENSG00000236390 RPS27P8 RNU6-501P LOC102723465
GH01F200183 1.3 Ensembl ENCODE 27.8 +485.6 485597 2.0 ATF1 PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF121 ZNF766 GATA2 ZNF143 DDX59 FAM58BP LOC100420255
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000550626 98 2201 CREB3L1 MLX ZFP64 DMAP1 YY1 ZNF263 SP3 NFYC TBX21 MEF2D

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

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

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: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

Inhibitory RNA Products

Flow Cytometry 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

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:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
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

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
Adenosine triphosphate Approved Nutra 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:

Inhibitory RNA Products

Flow Cytometry 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 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).
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 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia DDX59 34 35
  • 88.42 (n)
mouse
(Mus musculus)
Mammalia Ddx59 34 16 35
  • 81.53 (n)
rat
(Rattus norvegicus)
Mammalia Ddx59 34
  • 81.5 (n)
oppossum
(Monodelphis domestica)
Mammalia DDX59 35
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDX59 34 35
  • 74.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDX59 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX59 34 35
  • 72.34 (n)
lizard
(Anolis carolinensis)
Reptilia DDX59 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx59 34
  • 65.69 (n)
Str.16783 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3767 34
zebrafish
(Danio rerio)
Actinopterygii ddx59 34 35
  • 62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP28 35
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02065 34
  • 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

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
rs587777067 Orofaciodigital syndrome 5 (OFD5) [MIM:174300], Pathogenic 200,650,639(+) CAAGC(A/C/T)CTTGT intron-variant, nc-transcript-variant, reference, missense
VAR_035842 A breast cancer sample
VAR_070199 Orofaciodigital syndrome 5 (OFD5) [MIM:174300]
rs10159316 -- 200,649,291(+) TTTTT(C/T)TGAAA intron-variant
rs10561064 -- 200,669,918(+) GGAGC(-/GTAGA)GTAGA intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for DDX59 Gene

Human Gene Mutation Database (HGMD)
DDX59
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. 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 64
  4. Towards 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 Res. 2001) 3 4 64
  5. 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 64

Products for DDX59 Gene

Sources for DDX59 Gene

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