Aliases for ASIC1 Gene
External Ids for ASIC1 Gene
Previous HGNC Symbols for ASIC1 Gene
Previous GeneCards Identifiers for ASIC1 Gene
This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
GeneCards Summary for ASIC1 Gene
ASIC1 (Acid Sensing Ion Channel Subunit 1) is a Protein Coding gene. Diseases associated with ASIC1 include Brain Injury and Frozen Shoulder. Among its related pathways are Ion channel transport and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include cation channel activity and ligand-gated sodium channel activity. An important paralog of this gene is ASIC2.
UniProtKB/Swiss-Prot Summary for ASIC1 Gene
Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear.
Isoform 1 does not display proton-gated cation channel activity.
Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.