KCNH1 ist ein Gen, das durch das Symbol KCNH1 kodiert wird. Im Allgemeinen auch bezeichnet als: Potassium voltage-gated channel subfamily H member 1; Ether-a-go-go potassium channel 1; EAG channel 1; Voltage-gated potassium channel subunit Kv10.1; EAG; EAG1. KCNH1 hat eine Masse von 111.42kDa, eine Aminosäurelänge von 989, und ist an folgenden Krankheiten beteiligt: Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1.
Wir bieten 7 antikörper gegen KCNH1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells.
Rolle bei Krankheiten
Temple-Baraitser syndrome: 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: 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.
Sequenzähnlichkeiten
Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily.
Posttranslationale Modifikation
Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).
Zellort
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.
