SS18L1

Description

The SS18L1 (SS18L1 subunit of BAF chromatin remodeling complex) is a protein-coding gene located on chromosome 20.

SS18-like protein 1 is a protein that in humans is encoded by the SS18L1 gene. Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene is fused in-frame to the 3-prime end of the SSX1, SSX2, or SSX4 gene. The SS18L1 gene is homologous to SS18. SS18L1 has been shown to interact with CREB-binding protein. Biochemical pull down assays reveal SS18L1 to interact with several components of the human SWI/SNF chromatin remodeling complex.

SS18L1 acts as a transcriptional activator, playing a crucial role in calcium-dependent dendritic growth and branching within cortical neurons. It facilitates the recruitment of CREB-binding protein (CREBBP) to nuclear bodies. SS18L1 is a component of the CREST-BRG1 complex, a multiprotein assembly that regulates promoter activation. This complex orchestrates a calcium-dependent process involving the release of a repressor complex and the recruitment of an activator complex. In resting neurons, the transcription of the c-FOS promoter is inhibited by BRG1-mediated recruitment of a phospho-RB1-HDAC1 repressor complex. Following calcium influx, RB1 is dephosphorylated by calcineurin, leading to the release of the repressor complex. Concurrently, there is an increase in CREBBP recruitment to the promoter, driven by a CREST-dependent mechanism, which results in transcriptional activation. The CREST-BRG1 complex also interacts with the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and the recruitment of CREBBP.

SS18L1 is also known as CREST, LP2261, SMARCL2.

Associated Diseases

WES Whole Exome Sequencing