Homo sapiens Protein: DDX59 | |||||||||||||
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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.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00271
PF04438 PF00270 |
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PRINTS | |||||||||||||
PIRSF | |||||||||||||
SMART |
SM00490
SM00487 |
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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 | ||||||||||||