Aliases for KCNH1 Gene
External Ids for KCNH1 Gene
Previous GeneCards Identifiers for KCNH1 Gene
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNH1 Gene
KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1) is a Protein Coding gene. Diseases associated with KCNH1 include Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome 1. Among its related pathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include signal transducer activity and ion channel activity. An important paralog of this gene is KCNH5.
UniProtKB/Swiss-Prot for KCNH1 Gene
Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:22732247). Channel properties may be modulated by subunit assembly, but not by cyclic nucleotides (By similarity). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).
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.