InnateDB Protein
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IDBP-294687.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WWOX
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Protein Name
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WW domain containing oxidoreductase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384495
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InnateDB Gene
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IDBG-43129 (WWOX)
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Protein Structure
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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}.
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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}.
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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.
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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}.
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Comments |
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Number of Interactions
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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.
Experimentally validated |
Total |
260
[view]
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Protein-Protein |
260
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
GO:0008152
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metabolic process
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GO:0008202
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steroid metabolic process
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GO:0016055
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Wnt signaling pathway
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GO:0030178
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negative regulation of Wnt signaling pathway
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048705
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skeletal system morphogenesis
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GO:0055114
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oxidation-reduction process
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GO:0071560
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cellular response to transforming growth factor beta stimulus
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GO:2001238
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positive regulation of extrinsic apoptotic signaling pathway
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Cellular Component |
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PDB ID |
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InterPro |
IPR001202
WW domain
IPR002198
Short-chain dehydrogenase/reductase SDR
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PFAM |
PF00397
PF00106
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PRINTS |
PR00080
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PIRSF |
PIRSF000126
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SMART |
SM00456
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NZC7
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PhosphoSite |
PhosphoSite-Q9NZC7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
51741
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UniGene |
Hs.734837
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RefSeq |
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HUGO |
HGNC:12799
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OMIM |
605131
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CCDS |
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HPRD |
05501
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IMGT |
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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
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GenPept |
AAF27049
AAF27050
AAF78197
AAF82053
AAF82054
AAF82055
AAF82056
AAH03184
AAK81727
AAK81728
AAL05449
AAL05450
AAL05451
AAP36113
AAP94227
BAF83127
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