This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified.
Calcium and integrin-binding protein 2 (CIB2) belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Sensorineural hearing loss is genetically heterogeneous. The mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome. Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). CIB2 is widely expressed in various human and animal tissues, mainly in skeletal muscle, nervous tissue, inner ear, and retina. The CIB2 protein is responsible for maintaining Ca(2+) homeostasis in cells and interacting with integrins-transmembrane receptors essential for cell adhesion, migration, and activation of signaling pathways. Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia.
Seems to play an essential role in cold-induced suppression of cell proliferation.,induction:By cold stress an in response to DNA damage induced by UV irradiation or UV mimetic agents.,similarity:Contains 1 RRM (RNA recognition motif) domain.,tissue specificity:Ubiquitous.
Cold-induced RNA-binding protein (CIRBP) is a 172-residue, multifunctional sensor protein that was first isolated as a protein induced in mouse fibroblasts cultured at 32ºC. Conversely, CIRBP expression decreases in cells or tissues subjected to increased temperature. The CIRBP protein is composed of an amino-terminal RNA-binding domain and a carboxyl-terminal, glycine-rich domain. Stressful stimuli, such as hypoxia, heat shock, osmotic shock, or oxidative conditions, lead to translocation of CIRBP from the nucleus to cytoplasmic stress granules through a mechanism involving CIRBP methylation-dependent nuclear export. CIRBP plays a role in regulating apoptosis and preserving the stemness of neural stem cells at moderately low temperatures. Research studies demonstrate that CIRBP contributes to the regulation of circadian rhythm through post-translational modulation of CLOCK expression.
Transcription factor that recognizes and binds toThe enhancer heptamer motif 5'-TGA[CG]TCA-3'.,PTM:Phosphorylation enhancesThe transcriptional activity. Phosphorylated by PRKDC.,similarity:Belongs toThe bZIP family.,similarity:Belongs toThe bZIP family. Jun subfamily.,similarity:Contains 1 bZIP domain.,subunit:Heterodimer with either FOS or BATF3. Interacts with HIVEP3 (By similarity). Interacts with SMAD3/SMAD4 heterodimers. Interacts with MYBBP1A, SPIB and TCF20. Interacts with COPS5; indirectly leading to its phosphorylation. Interacts with DSIPI; this interaction inhibitsThe binding of active AP1 to its target DNA.
This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene.
Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
