Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway. Interacts with JAK2, HSPA9B and IFN-gammaR2 chain. Interacts with Ras GTPase-activating protein 1 (RASA1). Isoform 2 interacts with MUSK (via the cytoplasmic domain). Widely expressed with highest levels in heart, liver, lung and skeletal muscles. Also expressed in keratinocytes. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Apoptosis; Chaperone; Mitochondrial; Cell cycle regulation
Molecular Function: NF-kappaB binding; protein binding; chaperone binding; metal ion binding; unfolded protein binding; interferon-gamma receptor binding; Hsp70 protein binding; receptor tyrosine kinase binding; transcription factor binding; protein kinase binding; ATP binding; small GTPase regulator activity
Biological Process: caspase activation; mitochondrion organization and biogenesis; protein stabilization; protein folding; positive regulation of apoptosis; T cell differentiation in the thymus; cell aging; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of caspase activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; regulation of catalytic activity; response to heat; inhibition of NF-kappaB transcription factor; positive regulation of protein ubiquitination; small GTPase mediated signal transduction; negative regulation of programmed cell death; negative regulation of protein kinase activity; positive regulation of T cell proliferation; protein refolding; mitochondrial DNA replication; activated T cell apoptosis; neuromuscular junction development; negative regulation of apoptosis
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.