Aliases for KCNIP3 Gene
External Ids for KCNIP3 Gene
Previous HGNC Symbols for KCNIP3 Gene
Previous GeneCards Identifiers for KCNIP3 Gene
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNIP3 Gene
KCNIP3 (Potassium Voltage-Gated Channel Interacting Protein 3) is a Protein Coding gene. Diseases associated with KCNIP3 include Ceroid Lipofuscinosis, Neuronal, 3 and Diamond-Blackfan Anemia 10. Among its related pathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transcription corepressor activity. An important paralog of this gene is KCNIP4.
UniProtKB/Swiss-Prot Summary for KCNIP3 Gene
Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity).
Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner.
May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.