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RING finger protein 139 (translocation in renal carcinoma on chromosome 8, RNF139, TRC8)
Function:
1) tumor suppressor for renal cell carcinoma (putative)
2) plays a role in mediating ubiquitination
3) signaling receptor
4) interacts with VHL
5) RING-type zinc finger domain may be essential for ubiquitin ligase activity
Structure:
- contains 1 RING-type zinc finger
Compartment: endoplasmic reticulum membrane
Expression:
- expressed in testis, placenta, adrenal gland > heart, brain, liver, skeletal muscle, pancreas > lung kidney
Pathology:
- defects in RNF139 are a cause of renal cell carcinoma
a) translocation (3;8)(q14.2;q24.1)
b) sporadic renal cell carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5' untranslated region has also been identified
General
ring finger protein
transmembrane 12 protein
Properties
SIZE: MW = 76 kD
entity length = 664 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: transmembrane domain {51-71}
transmembrane domain {85-105}
transmembrane domain {125-145}
transmembrane domain {154-174}
transmembrane domain {178-198}
transmembrane domain {293-313}
transmembrane domain {323-343}
transmembrane domain {356-376}
transmembrane domain {390-410}
transmembrane domain {420-440}
transmembrane domain {469-489}
transmembrane domain {495-512}
RING-finger {547-586}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Database Correlations
OMIM correlations
UniProt Q8WU17
Pfam PF00097
References
- UniProt :accession Q8WU17
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/TRC8ID500.html