KCNH1

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.

potassium voltage-gated channel subfamily H member 1

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660).
Channel properties are modulated by subunit assembly (PubMed:11943152).
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).

Cellular response to calcium ionManual Assertion Based On ExperimentIMP:UniProtKB
Myoblast fusionManual Assertion Based On ExperimentTAS:ProtInc
Phosphatidylinositol-mediated signalingManual Assertion Based On ExperimentIMP:UniProtKB
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Regulation of cell population proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of ion transmembrane transportIEA:UniProtKB-KW
Regulation of membrane potentialManual Assertion Based On ExperimentIBA:GO_Central

Cell membrane; Nucleus inner membrane; Cell projection, dendrite; Cell projection, axon; Cell junction, synapse, presynaptic cell membrane; Perikaryon; Cell junction, synapse, postsynaptic density membrane; Early endosome membrane. Perinuclear KCNH1 is located to NPC-free islands.

Temple-Baraitser syndrome (TMBTS):
A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism.
Zimmermann-Laband syndrome 1 (ZLS1):
A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant.

Cytoplasmic: 1-220
Helical: 221-241
Extracellular: 242-248
Helical: 249-269
Cytoplasmic: 270-290
Helical: 291-309
Extracellular: 310-345
Helical: 346-368
Cytoplasmic: 369-377
Helical: 378-399
Extracellular: 400-448
Pore-forming: 449-470
Extracellular: 471-477
Helical: 478-498
Cytoplasmic: 499-989

Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).