Aliases for SS18L1 Gene
External Ids for SS18L1 Gene
Previous GeneCards Identifiers for SS18L1 Gene
This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for SS18L1 Gene
SS18L1 (SS18L1 Subunit Of BAF Chromatin Remodeling Complex) is a Protein Coding gene. Diseases associated with SS18L1 include Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type and Clark-Baraitser Syndrome. An important paralog of this gene is SS18.
UniProtKB/Swiss-Prot Summary for SS18L1 Gene
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).