background:
The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008].
Function:
E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator.
Subunit:
Interacts with LIMK1 (By similarity). Interacts with AR.
Subcellular Location:
Nucleus. Cytoplasm. Cell projection, axon. Nucleus, PML body. Note=Localizes to the PML nuclear bodies in Sertoli cells.
Tissue Specificity:
Weakly expressed in peripheral blood, spleen, prostate, testis and ovary. According to PubMed:18368307, it is preferentially expressed in testis and ovary and hardly detected in other tissues.
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.
Similarity:
Belongs to the RNF12 family.
Contains 1 RING-type zinc finger.
Database links:
Entrez Gene: 6049 Human
Entrez Gene: 74132 Mouse
Entrez Gene: 100174577 Orangutan
Entrez Gene: 304271 Rat
Omim: 604242 Human
SwissProt: Q9Y252 Human
SwissProt: Q9DBU5 Mouse
Unigene: 136885 Human
Unigene: 26696 Mouse
Unigene: 53030 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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