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Rabbit Anti-KCNH1 Recombinant Antibody (CBLY1-048) (CBMAB-K0534-LY)

This product is antibody recognizes KCNH1. The antibody CBLY1-048 immunoassay techniques such as: WB.
See all KCNH1 antibodies

Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBLY1-048
Antibody Isotype
IgG
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
potassium voltage-gated channel subfamily H member 1
Introduction
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]
Entrez Gene ID
UniProt ID
Alternative Names
Potassium Voltage-Gated Channel Subfamily H Member 1; Potassium Voltage-Gated Channel; Subfamily H (Eag-Related); Member 1; Voltage-Gated Potassium Channel Subunit Kv10.1; Ether-A-Go-Go Potassium Channel 1; EAG Channel 1; H-Eag; HEAG1; EAG1;
Function
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).
Biological Process
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
Cellular Location
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.
Involvement in disease
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.
Topology
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
PTM
Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).

Tian, M. Q., Li, R. K., Yang, F., Shu, X. M., Li, J., Chen, J., ... & Yang, C. J. (2023). Phenotypic expansion of KCNH1‐associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub‐regional locations. CNS Neuroscience & Therapeutics, 29(1), 270-281.

Díaz, L., Bernadez-Vallejo, S. V., Vargas-Castro, R., Avila, E., Gómez-Ceja, K. A., García-Becerra, R., ... & García-Quiroz, J. (2023). The Phytochemical α-Mangostin Inhibits Cervical Cancer Cell Proliferation and Tumor Growth by Downregulating E6/E7-HPV Oncogenes and KCNH1 Gene Expression. International Journal of Molecular Sciences, 24(3), 3055.

Napoli, G., Panzironi, N., Traversa, A., Catalanotto, C., Pace, V., Petrizzelli, F., ... & Caputo, V. (2022). Potassium Channel KCNH1 activating variants cause altered functional and morphological ciliogenesis. Molecular Neurobiology, 59(8), 4825-4838.

Mucca, M. A., Patat, O., Whalen, S., Arnaud, L., Barcia, G., Buratti, J., ... & Mignot, C. (2022). Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. Journal of medical genetics, 59(5), 505-510.

Gripp, K. W., Smithson, S. F., Scurr, I. J., Baptista, J., Majumdar, A., Pierre, G., ... & Kutsche, K. (2021). Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—A subgroup of K+ channelopathies. European Journal of Human Genetics, 29(9), 1384-1395.

von Wrede, R., Jeub, M., Ariöz, I., Elger, C. E., von Voss, H., Klein, H. G., ... & Kunz, W. S. (2021). Novel KCNH1 mutations associated with epilepsy: broadening the phenotypic spectrum of KCNH1-associated diseases. Genes, 12(2), 132.

Li, Z., Fu, Y., Ouyang, W., He, M., Wang, Y., Wang, X., & Tan, W. (2021). Circ_0016347 promotes osteosarcoma progression by regulating miR-1225-3p/KCNH1 axis. Cancer biotherapy & radiopharmaceuticals.

Shen, C., Kuang, Y., Xu, S., Li, R., Wang, J., Zou, Y., ... & Xu, H. (2021). Nitidine chloride inhibits fibroblast like synoviocytes-mediated rheumatoid synovial inflammation and joint destruction by targeting KCNH1. International Immunopharmacology, 101, 108273.

Napoli, G. (2020). Functional studies of human K+ channels KCNH1 and KCNK4 and their role in human pathogenesis.

Noori, M. R., Zhang, B., & Pan, L. (2019). Is KCNH1 mutation related to coronary artery ectasia. BMC Cardiovascular Disorders, 19(1), 1-4.

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For research use only. Not intended for any clinical use.

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