DISEASES

Disease-gene associations mined from literature

Literature associating SS18L1 and small-cell carcinoma of the ovary of hypercalcemic type

SS18L1 [ENSP00000333012]

Calcium-responsive transactivator; Transcriptional activator which is required for calcium- dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).

Synonyms:  SS18L1,  SS18L1p,  hSS18L1,  H0YDW4,  O75177 ...

Linkouts:  STRING  Pharos  UniProt  OMIM