Version 5.4
Homo sapiens Protein: DDX59
Summary
InnateDB Protein IDBP-389851.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DDX59
Protein Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000394367
InnateDB Gene IDBG-105661 (DDX59)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000269PubMed:23972372}. Nucleus {ECO:0000269PubMed:23972372}. Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.
Disease Associations 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:0000269PubMed:23972372}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in fibroblasts (at protein level). {ECO:0000269PubMed:23972372}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0046872 metal ion binding
Biological Process
GO:0008152 metabolic process
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR001650 Helicase, C-terminal
IPR007529 Zinc finger, HIT-type
IPR011545 DEAD/DEAH box helicase domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR014014 RNA helicase, DEAD-box type, Q motif
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00271
PF04438
PF00270
PRINTS
PIRSF
SMART SM00490
SM00487
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5T1V6
PhosphoSite PhosphoSite-Q5T1V6
TrEMBL Q5T1V5
UniProt Splice Variant
Entrez Gene 83479
UniGene Hs.733008
RefSeq XP_005245577
HUGO HGNC:25360
OMIM 615464
CCDS
HPRD 10893
IMGT
EMBL AL136611 AL445483 BC014183 BC041801
GenPept AAH14183 AAH41801 CAB66546 CAI17055 CAI17056

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca