Uniprot ID:Q9NZC7	Protein name: WW domain-containing oxidoreductase	Gene : WWOX FOR SDR41C1 WOX1
Protein Family:Short-chain dehydrogenases/reductases (SDR) family	Squence Length : 414

Sequnce	>Q9NZC7 415 MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG
Domains	DOMAIN 16 49 WW 1 DOMAIN 57 90 WW 2
WW sequence regions	16 - 49 LPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGK 57 - 90 LPYGWEQETDENGQVFFVDHINKRTTYLDPRLAF
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"
Active Site	ACT_SITE 293 293 Proton acceptor
Motifs	MOTIF 50 55 Nuclear localization signal
Binding Site	BINDING 260 260 Substrate
Nucleotide Binding	NP_BIND 131 137 NADP
Mutation	"28 28 K->T: No effect on interaction with TP53 when associated with V-29 29 29 D->V: No effect on interaction with TP53 when associated with T-28 33 33 Y->F: Loss of phosphorylation 33 33 Y->R: Abolishes interaction with TP53, TP73, MAPK8 and ERBB4 44 47 WEHP->FEHA: Abolishes interaction with LITAF 61 61 Y->R: No effect on interaction with TP73 85 88 YLDP->ALDA: No effect on interaction with LITAF 287 287 Y->A: Loss of phosphorylation by TNK2"
Disease	"DISEASE: 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 (PubMed:10861292) 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 (PubMed:10861292, PubMed:11572989, PubMed:15266310, PubMed:15073125, PubMed:15131042) ; DISEASE: 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 ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Epileptic encephalopathy, early infantile, 28 (EIEE28) [MIM:616211]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis Development is normal prior to seizure onset, after which cognitive and motor delays become apparent Note=The disease is caused by mutations affecting the gene represented in this entry"

Q9NZC7 Proteins WW domain Repeats