SS18

SS18 (SS18, NBAF Chromatin Remodeling Complex Subunit) is a Protein Coding gene. Diseases associated with SS18 include Sarcoma, Synovial and Sarcoma. Among its related pathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is SS18L1.

SS18, NBAF Chromatin Remodeling Complex Subunit

Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058).

Biological Process cell morphogenesisIEA:Ensembl
Biological Process chromatin remodeling1 PublicationIC:ComplexPortal
Biological Process ephrin receptor signaling pathwayIEA:Ensembl
Biological Process intracellular signal transductionIEA:Ensembl
Biological Process microtubule cytoskeleton organizationIEA:Ensembl
Biological Process negative regulation of cell differentiation1 PublicationIC:ComplexPortal
Biological Process neuronal stem cell population maintenanceIEA:Ensembl
Biological Process positive regulation of cell population proliferation1 PublicationIC:ComplexPortal
Biological Process positive regulation of stem cell population maintenance1 PublicationIC:ComplexPortal
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of transcription by RNA polymerase II1 PublicationIC:ComplexPortal
Biological Process response to xenobiotic stimulusIEA:Ensembl

Nucleus

A chromosomal aberration involving SS18 may be a cause of synovial sarcoma. Translocation t(X;18)(p11.2;q11.2). The translocation is specifically found in more than 80% of synovial sarcoma. The fusion products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity. Heterogeneity in the position of the breakpoint can occur (low frequency).