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. Bas... See more...

Aliases for DDX46 Gene

Aliases for DDX46 Gene

  • DEAD-Box Helicase 46 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 46 2 3
  • Probable ATP-Dependent RNA Helicase DDX46 3 4
  • DEAD Box Protein 46 3 4
  • PRP5 Homolog 3 4
  • KIAA0801 2 4
  • PRPF5 2 3
  • Prp5 2 3
  • Prp5-Like DEAD-Box Protein 3
  • RNA Helicase 3
  • EC 3.6.4.13 4
  • FLJ25329 2
  • EC 3.6.1 51
  • DDX46 5

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-Box Helicase 46) is a Protein Coding gene. Diseases associated with DDX46 include Myopathy, Centronuclear, 1 and Mitochondrial Dna Depletion Syndrome 9. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is DDX23.

UniProtKB/Swiss-Prot Summary for DDX46 Gene

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

Gene Wiki entry for DDX46 Gene

Additional gene information for DDX46 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX46 Gene

Genomics for DDX46 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDX46 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX46 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX46

Top Transcription factor binding sites by QIAGEN in the DDX46 gene promoter:
  • aMEF-2
  • AREB6
  • CUTL1
  • FOXF2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • MEF-2A
  • NCX
  • SRY

Genomic Locations for DDX46 Gene

Genomic Locations for DDX46 Gene
chr5:134,758,771-134,855,133
(GRCh38/hg38)
Size:
96,363 bases
Orientation:
Plus strand
chr5:134,094,461-134,190,823
(GRCh37/hg19)
Size:
96,363 bases
Orientation:
Plus strand

Genomic View for DDX46 Gene

Genes around DDX46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for DDX46 Gene

Q7L014:
  • DMGFEPQ
  • YEPFRKNFYVEVPELA
  • SSGFSGKGFKFDETE
  • VKGKGCPKPIK
  • LKRGAEI
  • ATSVAARGLD
  • VLDEADRM
  • AKTGSGKT
  • LEEEMRKRKERVEKWREEQRK
  • ASYPCMSLHGGIDQYDRDSIINDFKNG
  • KRYEEELEINDFPQTARWKVTSKEALQRI
  • TPTRELA
  • DPLDAYM
  • EVQVGGRSVVCSDVEQ
  • GSVIIFVDKQEHADGLLKDLM
  • TGSGKTIAF
  • KKKGELMENDQDAMEYSSEEEEVDLQTALTG
  • DIDEQIESMFNSKKRVKD
  • VCTPGRMI
  • QAIPAIMS
  • ALANERKKLQK
  • IMTPTREL
  • GRDLIGI
  • GRTGRAG
  • AEKINAKLNY
  • TNLRRVT
  • ECKKFSK
  • VIVIEEEKKFLKLLE
  • PAIMSGRD
  • ANSGRVTNL
  • EYSEAAITIRGTYFPPGKEPKEGERKIYLAIESANELAV
  • EEMKQGKKWSLEDDD
  • VTKVVTVV
  • QIAELKRGA
  • WVQCGISMK
  • AFLLPMFRHI
  • PNHYEDYVHR
  • PTRELALQ

Post-translational modifications for DDX46 Gene

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

Antibody Products

  • Abcam antibodies for DDX46
  • Boster Bio Antibodies for DDX46
  • Santa Cruz Biotechnology (SCBT) Antibodies for DDX46

Domains & Families for DDX46 Gene

Gene Families for DDX46 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDX46 Gene

Suggested Antigen Peptide Sequences for DDX46 Gene

GenScript: Design optimal peptide antigens:
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, isoform CRA_a (D3DQA6_HUMAN)
  • PRP5 homolog (DDX46_HUMAN)
  • DDX46 protein (Q0VGL8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L014

UniProtKB/Swiss-Prot:

DDX46_HUMAN :
  • Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily.
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 Function:
Plays an essential role in splicing, either prior to, or during splicing A complex formation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DDX46 Gene

Phenotypes From GWAS Catalog for DDX46 Gene

Gene Ontology (GO) - Molecular Function for DDX46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA,HDA 22681889
GO:0003724 RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DDX46: view
genes like me logo Genes that share phenotypes with DDX46: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX46

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DDX46 Gene

Localization for DDX46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX46 Gene

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

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 DDX46 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0015030 Cajal body IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DDX46: view

Pathways & Interactions for DDX46 Gene

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

Pathways by source 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 TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with DDX46: view

No data available for SIGNOR curated interactions for DDX46 Gene

Drugs & Compounds for DDX46 Gene

(3) Drugs for DDX46 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, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for DDX46 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DDX46: view

Transcripts for DDX46 Gene

mRNA/cDNA for DDX46 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX46

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

Expression for DDX46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX46 Gene



Protein tissue co-expression partners for DDX46 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX46

SOURCE GeneReport for Unigene cluster for DDX46 Gene:

Hs.406549

Evidence on tissue expression from TISSUES for DDX46 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Eye(4.4)
  • Kidney(2.4)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with DDX46: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Cow
(Bos Taurus)
Mammalia DDX46 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia DDX46 30 31
  • 99.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DDX46 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DDX46 30 31
  • 94.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DDX46 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddx46 30 17 31
  • 89.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddx46 30
  • 88.47 (n)
Chicken
(Gallus gallus)
Aves DDX46 30 31
  • 82.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDX46 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddx46 30
  • 78.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13242 30
Zebrafish
(Danio rerio)
Actinopterygii ddx46 30 31
  • 72.5 (n)
OneToOne
Dr.25491 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6227 30 31
  • 60.08 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010656 30
  • 46.33 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_F53H1.1 30
  • 56.34 (n)
F53H1.1 31
  • 50 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP2 31
  • 38 (a)
OneToMany
PRP5 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G20920 30
  • 56.23 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0159900 30
  • 55.43 (n)
Os.24620 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4221 31
  • 62 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp11 30
  • 56.49 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02696 30
  • 53.46 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5602 30
Species where no ortholog for DDX46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for DDX46: view image

Paralogs for DDX46 Gene

(24) SIMAP similar genes for DDX46 Gene using alignment to 6 proteins:

  • DDX46_HUMAN
  • D3DQA6_HUMAN
  • D6RJA6_HUMAN
  • H0Y9U3_HUMAN
  • H0YAD5_HUMAN
  • Q0VGL8_HUMAN
genes like me logo Genes that share paralogs with DDX46: view

Variants for DDX46 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX46 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs10447293 - p.Glu207Gln

Additional dbSNP identifiers (rs#s) for DDX46 Gene

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

Variant ID Type Subtype PubMed ID
dgv5810n100 CNV gain 25217958
esv3400590 CNV duplication 20981092
esv3575882 CNV gain 25503493
nsv1109727 CNV deletion 24896259
nsv512860 CNV insertion 21212237
nsv523937 CNV gain 19592680
nsv830493 CNV loss 17160897
nsv830494 CNV gain+loss 17160897

Variation tolerance for DDX46 Gene

Residual Variation Intolerance Score: 5.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX46

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDX46 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX46 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, centronuclear, 1
  • cnm1
mitochondrial dna depletion syndrome 9
  • mtdps9
- elite association - COSMIC cancer census association via MalaCards
Search DDX46 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX46

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

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX46 Gene

Publications for DDX46 Gene

  1. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  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
  4. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PMID: 12234937) Will CL … Lührmann R (The EMBO journal 2002) 3 4
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4

Products for DDX46 Gene

Sources for DDX46 Gene