Homo sapiens Protein: WWOX | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Protein | IDBP-751351.3 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | WWOX | ||||||||||||||||||||||||||
Protein Name | |||||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Protein | ENSP00000457230 | ||||||||||||||||||||||||||
InnateDB Gene | IDBG-43129 (WWOX) | ||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||
Function | Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm. {ECO:0000250, ECO:0000269PubMed:11719429, ECO:0000269PubMed:15070730, ECO:0000269PubMed:15548692, ECO:0000269PubMed:16061658, ECO:0000269PubMed:16219768, ECO:0000269PubMed:19366691, ECO:0000269PubMed:19465938}. | ||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Nucleus. Mitochondrion. Golgi apparatus. Note=Partially localizes to the mitochondria. Translocates to the nucleus upon genotoxic stress or TNF stimulation (By similarity). Translocates to the nucleus in response to TGFB1. Isoform 5 and isoform 6 may localize in the nucleus. {ECO:0000250}. | ||||||||||||||||||||||||||
Disease Associations | Note=Defects in WWOX may be involved in several cancer types. The gene spans the second most common chromosomal fragile site (FRA16D) which is frequently altered in cancers. Alteration of the expression and expression of some isoforms is associated with cancers. However, it is still unclear if alteration of WWOX is directly implicated in cancerogenesis or if it corresponds to a secondary effect.Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Note=The disease may be caused by mutations affecting the gene represented in this entry.Spinocerebellar ataxia, autosomal recessive, 12 (SCAR12) [MIM:614322]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR12 is additionally characterized by onset of generalized seizures in infancy, and delayed psychomotor development with mental retardation. Some patients may also show spasticity. {ECO:0000269PubMed:24369382, ECO:0000269PubMed:24456803}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||
Tissue Specificity | Widely expressed. Strongly expressed in testis, prostate, and ovary. Overexpressed in cancer cell lines. Isoform 5 and isoform 6 may only be expressed in tumor cell lines. {ECO:0000269PubMed:10786676, ECO:0000269PubMed:11719429}. | ||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 260 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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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 |
IPR001202
WW domain IPR002198 Short-chain dehydrogenase/reductase SDR IPR002347 Glucose/ribitol dehydrogenase IPR013968 Polyketide synthase, KR |
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PFAM |
PF00397
PF00106 PF08659 |
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PRINTS |
PR00080
PR00081 |
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PIRSF |
PIRSF000126
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SMART |
SM00456
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TIGRFAMs | |||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | Q9NZC7 | ||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9NZC7 | ||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 51741 | ||||||||||||||||||||||||||
UniGene | Hs.734837 | ||||||||||||||||||||||||||
RefSeq | NP_057457 | ||||||||||||||||||||||||||
HUGO | HGNC:12799 | ||||||||||||||||||||||||||
OMIM | 605131 | ||||||||||||||||||||||||||
CCDS | CCDS42196 | ||||||||||||||||||||||||||
HPRD | 05501 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AF211943 AF212843 AF227526 AF227527 AF227528 AF227529 AF325423 AF325424 AF325425 AF325426 AF325427 AF325428 AF325429 AF325430 AF325431 AF325432 AF325433 AF395123 AF395124 AH009490 AK290438 AY256821 BC003184 BT007445 | ||||||||||||||||||||||||||
GenPept | AAF27049 AAF27050 AAF78197 AAF82053 AAF82054 AAF82055 AAF82056 AAH03184 AAK81727 AAK81728 AAL05449 AAL05450 AAL05451 AAP36113 AAP94227 BAF83127 | ||||||||||||||||||||||||||