Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10

Identity

Other namesHRH-J8
HGNC (Hugo) DDX10
Location 11q22
Location_base_pair Starts at 108041026 and ends at 108316858 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order telomeric to ATM.
 
  DDX10 (11q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description at least 12 exons; spans more than a 200-kb region
Transcription alternative splicing; 3.2 and 5.0 kb mRNA

Protein

Description contains 2 nuclear localization signals (NLS), a DEAD box (DEAD for: ASP-GLU_ALA-ASP)
Expression wide
Localisation nucleolus (probable)
Function putative ATP-dependent DEAD box RNA helicase; possible role in ribosome assembly through rRNA processing
Homology SPB4 and DRS1 (yeast)

Implicated in

Entity inv (11)(p15q22)/MDS or ANLL --> NUP98-DDX10
Disease therapy related MDS and ANLL; de novo ANLL
Hybrid/Mutated Gene 5' NUP98 - 3' DDX10
Abnormal Protein fuses the GLFG repeat domains of NUP98 to the charged amino acids domain of DDX11
  

External links

Nomenclature
HGNC (Hugo)DDX10   2735
Entrez_Gene (NCBI)DDX10  1662  DEAD (Asp-Glu-Ala-Asp) box polypeptide 10
Cards
AtlasDDX10
GeneCards (Weizmann)DDX10
Ensembl (Hinxton)ENSG00000178105 [Gene_View]  DDX10 [Vega]
AceView (NCBI)DDX10
Genatlas (Paris)DDX10
euGene (Indiana)1662
SOURCE (Stanford)NM_004398
Gene Expression (Array Express) ENSG00000178105
Genomic and cartography
GoldenPath (UCSC)DDX10  -  11q22   chr11:108041026-108316858 +  11q22-q23   [Description]    (hg18-Mar_2006)
EnsemblDDX10 - 11q22-q23 [CytoView]
Mapping of homologs : NCBIDDX10 [Mapview]
OMIM601235   
Gene and transcription
Gene : Genbank (Entrez)AB001343 AB040537 AB209884 AK296752 AK315216
Reference sequence (RefSeq transcript) :SRSNM_004398
Reference transcript : EntrezNM_004398
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NT_033899 NW_001838042 NW_925173
Consensus coding sequences : CCDS NCBIDDX10
Cluster EST : UnigeneHs.591931 [ SRS ] Hs.591931 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13672
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ13206 (SRS) Q13206 (Expasy) Q13206 (Uniprot)
With graphics : InterProQ13206
Splice isoforms : VarSplice FASTAQ13206(VarSplice FASTA)
Domaine pattern : Prosite (SRS)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domain pattern : Prosite (Expaxy)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (SRS)DEAD-like_N    DNA/RNA_helicase_C    DNA/RNA_helicase_DEAD/DEAH_N    Helicase_SF1/SF2_ATP-bd    RNA-helicase_DEAD-box_CS    RNA_helicase_DEAD_Q_motif   
Domains : Interpro (EBI)DEAD-like_N    DNA/RNA_helicase_C    DNA/RNA_helicase_DEAD/DEAH_N    Helicase_SF1/SF2_ATP-bd    RNA-helicase_DEAD-box_CS    RNA_helicase_DEAD_Q_motif   
Related proteins : CluSTrQ13206
Domain families : Pfam SRSDEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam SangerDEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam NCBIpfam00270    pfam00271   
Domain families : Smart EMBLDEXDc (SM00487)  HELICc (SM00490)  
Blocks (Seattle)Q13206
Crystal structure of protein : PDB SRS2PL3   
Crystal structure of protein : PDBSum2PL3   
Crystal structure of protein : IMB2PL3   
Crystal structure of protein : PDB RSDB2PL3   
HPRD03138
Protein Interaction databases
DIP (DOE-UCLA)Q13206
IntAct (EBI)Q13206
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIDDX10
SNP : GeneSNP UtahDDX10
SNP : HGBaseDDX10
Genetic variants : HAPMAPDDX10
Somatic Mutations in Cancer : COSMICDDX10 
Translocation Breakpoints in Cancer : TICdbDDX10 
Mutations and Diseases : HGMDDDX10
Hereditary diseases : OMIM601235   
Hereditary diseases : GENETests601235   
Diseases : Genetic AssociationDDX10
General knowledge
Homologs : HomoloGeneDDX10
Homology/Alignments : Family Browser UCSCDDX10
Phylogenetic Trees/Animal Genes : TreeFamDDX10
Catalytic activity : Enzyme3.6.1.- [ Enzyme-Expasy ]   3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ IntEnz-EBI ]   3.6.1.- [ BRENDA ]   3.6.1.- [ KEGG ]   
Chemical/Protein Interactions : CTD1662
Keywords Ontology : AmiGOnucleotide binding  RNA binding  RNA helicase activity  ATP binding  ATP-dependent helicase activity  hydrolase activity  
Keywords Ontology : EGO-EBInucleotide binding  RNA binding  RNA helicase activity  ATP binding  ATP-dependent helicase activity  hydrolase activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesDDX10 Related clones (RZPD - Berlin)
Literature
PubMed13 Pubmed reference(s) in Entrez
PubGeneDDX10

Bibliography

A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23.
Savitsky K, Ziv Y, Bar-Shira A, Gilad S, Tagle DA, Smith S, Uziel T, Sfez S, Nahmias J, Sartiel A, Eddy RL, Shows TB, Collins FS, Shiloh Y, Rotman G
Genomics. 1996 ; 33 (2) : 199-206.
PMID 8660968
 
The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.
Arai Y, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, Kaneko Y, Ohki M
Blood. 1997 ; 89 (11) : 3936-3944.
PMID 9166830
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10. Atlas Genet Cytogenet Oncol Haematol. January 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/DDX10.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 6 13:41:27 CET 2010
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.