功能： disease:Defects in RNF139 are a cause of renal cell carcinoma (RCC) [MIM:144700]. A chromosomal aberration involving RNF139 is found in hereditary RCC. Translocation (3;8)(q14.2;q24.1) with FHIT. The result is RNF139 is found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. Sporadic RCC, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5'-UTR, has also been identified.,domain:The RING-type zinc finger domain may be essential for ubiquitin ligase activity.,function:Potential tumor suppressor for renal cell carcinoma. Plays a role in mediating ubiquitination. May function as a signaling receptor.,similarity:Contains 1 RING-type zinc finger.,subunit:Interacts with VHL.,tissue specificity:Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney.,
相關產品： RS0001,RS0002,YM3028,YM3029
細胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein .
組織表達： Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney.
功能： disease:Defects in RNF139 are a cause of renal cell carcinoma (RCC) [MIM:144700]. A chromosomal aberration involving RNF139 is found in hereditary RCC. Translocation (3;8)(q14.2;q24.1) with FHIT. The result is RNF139 is found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. Sporadic RCC, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5'-UTR, has also been identified.,domain:The RING-type zinc finger domain may be essential for ubiquitin ligase activity.,function:Potential tumor suppressor for renal cell carcinoma. Plays a role in mediating ubiquitination. May function as a signaling receptor.,similarity:Contains 1 RING-type zinc finger.,subunit:Interacts with VHL.,tissue specificity:Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney.,
相關產品： RS0001,RS0002,YM3028,YM3029
細胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein .
組織表達： Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney.
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