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Aliases for DDX20 Gene

Aliases for DDX20 Gene

  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 20 2 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 20, 103kD 2 3
  • DEAD Box Protein DP 103 3 4
  • Component Of Gems 3 3 4
  • DEAD Box Protein 20 3 4
  • Gemin-3 3 4
  • GEMIN3 3 4
  • DP103 3 4
  • Probable ATP-Dependent RNA Helicase DDX20 3
  • SMN-Interacting Protein 3
  • DEAD-Box Protein DP103 3
  • EC 3.6.4.13 4

External Ids for DDX20 Gene

Summaries for DDX20 Gene

Entrez Gene Summary for DDX20 Gene

  • 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. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDX20 Gene

DDX20 (DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 20) is a Protein Coding gene. Diseases associated with DDX20 include spinal muscular atrophy and muscular atrophy. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include ATP-dependent RNA helicase activity. An important paralog of this gene is DDX39B.

UniProtKB/Swiss-Prot for DDX20 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Wiki entry for DDX20 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX20 Gene

Genomics for DDX20 Gene

Genomic Location for DDX20 Gene

Start:
111,755,245 bp from pter
End:
111,768,016 bp from pter
Size:
12,772 bases
Orientation:
Plus strand

Genomic View for DDX20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDX20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX20 Gene

Regulatory Elements for DDX20 Gene

Proteins for DDX20 Gene

  • Protein details for DDX20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHI6-DDX20_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX20
    Protein Accession:
    Q9UHI6
    Secondary Accessions:
    • B4DWV7
    • Q96F72
    • Q9NVM3
    • Q9UF59
    • Q9UIY0
    • Q9Y659

    Protein attributes for DDX20 Gene

    Size:
    824 amino acids
    Molecular mass:
    92241 Da
    Quaternary structure:
    • Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5. Interacts directly with SNUPN. Interacts with PPP4R2. Interacts with FOXL2. Interacts with EBV EBNA2 and EBNA3C. Interacts with NANOS1 and PUM2.

    Three dimensional structures from OCA and Proteopedia for DDX20 Gene

    Alternative splice isoforms for DDX20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX20 Gene

Proteomics data for DDX20 Gene at MOPED

Post-translational modifications for DDX20 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys91, Lys192, Lys332, and Lys487

Other Protein References for DDX20 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DDX20 Gene

Domains for DDX20 Gene

Gene Families for DDX20 Gene

HGNC:
  • DDX :DEAD-boxes

Graphical View of Domain Structure for InterPro Entry

Q9UHI6

UniProtKB/Swiss-Prot:

DDX20_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • Q9UHI6
  • Contains 1 helicase C-terminal domain.:
    • Q9UHI6
Family:
  • Belongs to the DEAD box helicase family. DDX20 subfamily.:
    • Q9UHI6
genes like me logo Genes that share domains with DDX20: view

Function for DDX20 Gene

Molecular function for DDX20 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Enzyme Numbers (IUBMB) for DDX20 Gene

Gene Ontology (GO) - Molecular Function for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0004004 ATP-dependent RNA helicase activity TAS 10383418
GO:0005515 protein binding IPI 11714716
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DDX20: view
genes like me logo Genes that share phenotypes with DDX20: view

miRNA for DDX20 Gene

miRTarBase miRNAs that target DDX20

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DDX20 Gene

Localization for DDX20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX20 Gene

Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDX20 Gene COMPARTMENTS Subcellular localization image for DDX20 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DDX20: view

Pathways for DDX20 Gene

genes like me logo Genes that share pathways with DDX20: view

Pathways by source for DDX20 Gene

1 BioSystems pathway for DDX20 Gene
3 Reactome pathways for DDX20 Gene
1 KEGG pathway for DDX20 Gene

Gene Ontology (GO) - Biological Process for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000244 spliceosomal tri-snRNP complex assembly TAS 10601333
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006200 obsolete ATP catabolic process --
GO:0006396 RNA processing TAS 10601333
genes like me logo Genes that share ontologies with DDX20: view

Transcripts for DDX20 Gene

Unigene Clusters for DDX20 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDX20 Gene

No ASD Table

Relevant External Links for DDX20 Gene

GeneLoc Exon Structure for
DDX20
ECgene alternative splicing isoforms for
DDX20

Expression for DDX20 Gene

mRNA expression in normal human tissues for DDX20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDX20 Gene

This gene is overexpressed in Testis (8.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDX20 Gene

SOURCE GeneReport for Unigene cluster for DDX20 Gene Hs.591405

mRNA Expression by UniProt/SwissProt for DDX20 Gene

Q9UHI6-DDX20_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with DDX20: view

Orthologs for DDX20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DDX20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX20 35
  • 99.5 (n)
  • 98.95 (a)
DDX20 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDX20 35
  • 89.01 (n)
  • 88.56 (a)
DDX20 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDX20 35
  • 89.11 (n)
  • 86.96 (a)
DDX20 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx20 35
  • 84.47 (n)
  • 82.73 (a)
Ddx20 16
Ddx20 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDX20 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDX20 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddx20 35
  • 84.81 (n)
  • 83.84 (a)
chicken
(Gallus gallus)
Aves DDX20 35
  • 66.94 (n)
  • 64.25 (a)
DDX20 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDX20 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx20 35
  • 66.42 (n)
  • 70.86 (a)
Str.10125 35
zebrafish
(Danio rerio)
Actinopterygii ddx20 35
  • 63.26 (n)
  • 66.97 (a)
ddx20 36
  • 48 (a)
OneToOne
wufc03g10 35
fruit fly
(Drosophila melanogaster)
Insecta Gem3 36
  • 16 (a)
OneToOne
Dhh1 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea mel-46 36
  • 17 (a)
OneToOne
T06A10.1 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUB2 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for DDX20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDX20 Gene

ENSEMBL:
Gene Tree for DDX20 (if available)
TreeFam:
Gene Tree for DDX20 (if available)

Paralogs for DDX20 Gene

Paralogs for DDX20 Gene

Selected SIMAP similar genes for DDX20 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for DDX20 Gene

genes like me logo Genes that share paralogs with DDX20: view

Variants for DDX20 Gene

Sequence variations from dbSNP and Humsavar for DDX20 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs85276 - 111,766,709(+) GGAAA(C/T)ACGTC missense, reference
rs169093 -- 111,760,638(+) TATCT(A/G)TCTTT intron-variant
rs197395 -- 111,757,861(+) ATCAA(C/T)TCATT intron-variant
rs197396 -- 111,758,340(+) GGCAT(A/G)TTTTC intron-variant
rs197397 -- 111,759,075(+) ggtgt(A/G)accat intron-variant

Relevant External Links for DDX20 Gene

HapMap Linkage Disequilibrium report
DDX20
Human Gene Mutation Database (HGMD)
DDX20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DDX20 Gene

Disorders for DDX20 Gene

(2) University of Copenhagen DISEASES for DDX20 Gene

(1) Novoseek inferred disease relationships for DDX20 Gene

Disease -log(P) Hits PubMed IDs
muscular atrophy spinal 87.1 2

Relevant External Links for DDX20

Genetic Association Database (GAD)
DDX20
Human Genome Epidemiology (HuGE) Navigator
DDX20
genes like me logo Genes that share disorders with DDX20: view

No data available for UniProtKB/Swiss-Prot for DDX20 Gene

Publications for DDX20 Gene

  1. Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C. (PMID: 10383418) Grundhoff A.T. … Grasser F.A. (J. Biol. Chem. 1999) 2 3 4
  2. Gemin3: a novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and a component of gems. (PMID: 10601333) Charroux B. … Dreyfuss G. (J. Cell Biol. 1999) 3 4 23
  3. Gemin4: a novel component of the SMN complex that is found in both gems and nucleoli. (PMID: 10725331) Charroux B. … Dreyfuss G. (J. Cell Biol. 2000) 3 23
  4. SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. (PMID: 12095920) Narayanan U. … Matera A.G. (Hum. Mol. Genet. 2002) 3 4
  5. The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1. (PMID: 11509230) Pellizzoni L. … Dreyfuss G. (Curr. Biol. 2001) 3 23

Products for DDX20 Gene

Sources for DDX20 Gene

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