Recombinant Human Potassium voltage-gated channel subfamily H member 1 (KCNH1), Truncated

Uniprot Id

O95259

Target Species

Human

Target Name

KCNH1

Target Full Name

Voltage-gated delayed rectifier potassium channel KCNH1

Target Function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel. Channel properties are modulated by subunit assembly. Mediates IK(NI) current in myoblasts. Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs).

Target Involvement

Temple-Baraitser syndrome (TMBTS); Zimmermann-Laband syndrome 1 (ZLS1)

Target Subcellular Location

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

Target Protein Families

Potassium channel family, H (Eag) (TC 1.A.1.20) subfamily, Kv10.1/KCNH1 sub-subfamily

Target Tissue Specificity

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.

Target Synonyms

EAG; EAG channel 1; EAG1; Ether a go go potassium channel 1; Ether a go go, Drosophila, homolog of; Ether-a-go-go potassium channel 1; ether-a-go-go, Drosophila, homolog of; h eag; h-eag; hEAG1; Kcnh1; KCNH1_HUMAN; Kv10.1; M eag; MGC124419; MGC124420; MGC142269; Potassium voltage gated channel subfamily H (eag related), member 1; Potassium voltage gated channel subfamily H member 1; Potassium voltage-gated channel subfamily H member 1; Voltage gated potassium channel subunit Kv10.1; Voltage-gated potassium channel subunit Kv10.1

Target Background

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.