Summary

Performance

Immunogen

Application

Background

This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015],disease:Stomatin is deficient in overhydrated hereditary stomatocytosis (OHS); also known as cryohydrocytosis or hereditary stomatocytosis. OHS results in red cell anomaly associated with hemolytic anemia. There is increased Na(+)/K(+)-permeability and hence a disorder of cell volume control. The nature of the molecular defect underlying OHS is unknown.,function:Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase.,function:HCNP may be involved in the function of the presynaptic cholinergic neurons of the central nervous system. HCNP increases the production of choline acetyltransferase but not acetylcholinesterase. Seems to be mediated by a specific receptor.,function:Thought to regulate cation conductance. May regulate ACCN1 and ACCN3 gating.,similarity:Belongs to the band 7/mec-2 family.,similarity:Belongs to the phosphatidylethanolamine-binding protein family.,subcellular location:Exposed on the cytoplasmic surface of the membrane. Associated with lipid rafts. Concentrates preferentially in plasma membrane protrusions and in a juxta-nuclear region which may represent Golgi-derived vesicles. Colocalizes with actin. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subunit:Homooligomer containing between 9 and 12 monomers. Interacts with ACCN1, ACCN2 and ACCN3 (By similarity). Interacts with LANCL1.,subunit:Interacts with Raf-1 and seems to inhibit it.,tissue specificity:Widely expressed.,

Research Area