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Aliases for DDX46 Gene

Aliases for DDX46 Gene

  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 46 2 3
  • DEAD Box Protein 46 3 4
  • PRP5 Homolog 3 4
  • Probable ATP-Dependent RNA Helicase DDX46 3
  • Prp5-Like DEAD-Box Protein 3
  • RNA Helicase 3
  • EC 3.6.4.13 4
  • KIAA0801 4
  • EC 3.6.1 63
  • PRPF5 3
  • Prp5 3

External Ids for DDX46 Gene

Previous GeneCards Identifiers for DDX46 Gene

  • GC05P134125
  • GC05P134170
  • GC05P134122
  • GC05P134094
  • GC05P129280

Summaries for DDX46 Gene

Entrez Gene Summary for DDX46 Gene

  • This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for DDX46 Gene

DDX46 (DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 46) is a Protein Coding gene. Among its related pathways are Spliceosome. GO annotations related to this gene include RNA binding and ATP-dependent helicase activity. An important paralog of this gene is DDX53.

UniProtKB/Swiss-Prot for DDX46 Gene

  • Plays an essential role in splicing, either prior to, or during splicing A complex formation.

Gene Wiki entry for DDX46 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX46 Gene

Genomics for DDX46 Gene

Regulatory Elements for DDX46 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DDX46 Gene

Start:
134,758,771 bp from pter
End:
134,855,133 bp from pter
Size:
96,363 bases
Orientation:
Plus strand

Genomic View for DDX46 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDX46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX46 Gene

Proteins for DDX46 Gene

  • Protein details for DDX46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L014-DDX46_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX46
    Protein Accession:
    Q7L014
    Secondary Accessions:
    • O94894
    • Q96EI0
    • Q9Y658

    Protein attributes for DDX46 Gene

    Size:
    1031 amino acids
    Molecular mass:
    117362 Da
    Quaternary structure:
    • Integral component of the 17S U2 snRNP.
    SequenceCaution:
    • Sequence=BAA34521.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DDX46 Gene

Proteomics data for DDX46 Gene at MOPED

Post-translational modifications for DDX46 Gene

  • Ubiquitination at Lys422, Lys493, Lys686, Lys716, Lys894, Lys907, Lys1010, and Lys1025
  • Modification sites at PhosphoSitePlus

Other Protein References for DDX46 Gene

Antibody Products

Domains for DDX46 Gene

Gene Families for DDX46 Gene

HGNC:
  • DDX :DEAD-boxes

Suggested Antigen Peptide Sequences for DDX46 Gene

Graphical View of Domain Structure for InterPro Entry

Q7L014

UniProtKB/Swiss-Prot:

DDX46_HUMAN :
  • Q7L014
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily.
genes like me logo Genes that share domains with DDX46: view

Function for DDX46 Gene

Molecular function for DDX46 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function:
Plays an essential role in splicing, either prior to, or during splicing A complex formation.

Enzyme Numbers (IUBMB) for DDX46 Gene

Gene Ontology (GO) - Molecular Function for DDX46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0005524 ATP binding IEA --
GO:0008026 ATP-dependent helicase activity --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with DDX46: view

Phenotypes for DDX46 Gene

GenomeRNAi human phenotypes for DDX46:
genes like me logo Genes that share phenotypes with DDX46: view

Animal Model Products

miRNA for DDX46 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDX46

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DDX46 Gene

Localization for DDX46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX46 Gene

Nucleus speckle. Nucleus, Cajal body. Note=Present in Cajal bodies (CBs) and nuclear speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDX46 Gene COMPARTMENTS Subcellular localization image for DDX46 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DDX46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16791210
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
GO:0015030 Cajal body IEA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with DDX46: view

Pathways for DDX46 Gene

SuperPathways for DDX46 Gene

Superpath Contained pathways
1 Spliceosome
genes like me logo Genes that share pathways with DDX46: view

Pathways by source for DDX46 Gene

1 KEGG pathway for DDX46 Gene

Gene Ontology (GO) - Biological Process for DDX46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA --
GO:0006200 obsolete ATP catabolic process --
GO:0006397 mRNA processing --
GO:0008380 RNA splicing --
GO:0010468 regulation of gene expression IBA --
genes like me logo Genes that share ontologies with DDX46: view

Transcripts for DDX46 Gene

Unigene Clusters for DDX46 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 46:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDX46

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX46 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - -
SP2: -
SP3: - - - - -
SP4: - - -
SP5:
SP6: - -
SP7:
SP8: - - -
SP9:
SP10:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DDX46 Gene

GeneLoc Exon Structure for
DDX46
ECgene alternative splicing isoforms for
DDX46

Expression for DDX46 Gene

mRNA expression in normal human tissues for DDX46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for DDX46 Gene

This gene is overexpressed in Nasal epithelium (10.3), Lymph node (10.2), and Peripheral blood mononuclear cells (9.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDX46 Gene

SOURCE GeneReport for Unigene cluster for DDX46 Gene Hs.406549

genes like me logo Genes that share expressions with DDX46: view

Expression partners for DDX46 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDX46 Gene

Orthologs for DDX46 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX46 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DDX46 35
  • 94.15 (n)
  • 99.81 (a)
DDX46 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx46 35
  • 89.48 (n)
  • 98.81 (a)
Ddx46 16
Ddx46 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDX46 35
  • 99.74 (n)
  • 100 (a)
DDX46 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddx46 35
  • 88.47 (n)
  • 98.59 (a)
cow
(Bos Taurus)
Mammalia DDX46 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDX46 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX46 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDX46 35
  • 82.99 (n)
  • 93.72 (a)
DDX46 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDX46 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx46 35
  • 78.82 (n)
  • 90.83 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13242 35
zebrafish
(Danio rerio)
Actinopterygii ddx46 35
  • 72.5 (n)
  • 84.9 (a)
Dr.25491 35
ddx46 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010656 35
  • 46.33 (n)
  • 41.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6227 35
  • 60.08 (n)
  • 66.62 (a)
CG6227 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F53H1.1 35
  • 56.34 (n)
  • 52.68 (a)
F53H1.1 36
  • 50 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP2 36
  • 38 (a)
OneToMany
PRP5 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G20920 35
  • 56.23 (n)
  • 51.49 (a)
rice
(Oryza sativa)
Liliopsida Os.24620 35
Os08g0159900 35
  • 55.43 (n)
  • 50.61 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5602 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02696 35
  • 53.46 (n)
  • 51 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp11 35
  • 56.49 (n)
  • 54.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4221 36
  • 62 (a)
OneToOne
Species with no ortholog for DDX46:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for DDX46 Gene

ENSEMBL:
Gene Tree for DDX46 (if available)
TreeFam:
Gene Tree for DDX46 (if available)

Paralogs for DDX46 Gene

Paralogs for DDX46 Gene

genes like me logo Genes that share paralogs with DDX46: view

Variants for DDX46 Gene

Sequence variations from dbSNP and Humsavar for DDX46 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs25783 -- 134,826,456(-) AAAGG(A/G)AATTA intron-variant
rs25784 -- 134,821,544(-) aaaaa(A/G)aaaaa intron-variant
rs25785 -- 134,821,536(-) aaaaa(A/C)aaaaa intron-variant
rs25786 -- 134,820,725(-) ctgag(C/G)actga intron-variant
rs25787 -- 134,819,921(-) AAAAC(A/G)AAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DDX46 Gene

Variant ID Type Subtype PubMed ID
nsv830493 CNV Loss 17160897
nsv512860 CNV Insertion 21212237
nsv523937 CNV Gain 19592680
nsv830494 CNV Gain+Loss 17160897

Relevant External Links for DDX46 Gene

HapMap Linkage Disequilibrium report
DDX46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX46 Gene

Disorders for DDX46 Gene

Relevant External Links for DDX46

Genetic Association Database (GAD)
DDX46

No disorders were found for DDX46 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for DDX46 Gene

Publications for DDX46 Gene

  1. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 48
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  3. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PMID: 12234937) Will C.L. … Luehrmann R. (EMBO J. 2002) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. 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

Products for DDX46 Gene

Sources for DDX46 Gene

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