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HighlightsIntroduction of KCNT1
KCNT1, potassium channel subfamily T member 1 is a protein that in humans is encoded by the KCNT1 gene. It is also called KCa4.1. KCa4.1 is a member of the calcium-activated potassium channel protein family. It can be activated by high intracellular sodium or chloride levels. It can also be activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. Mutations in the KCNT1 gene have been shown to be a cause of Early Infantile Epileptic Encephalopathy.
| Basic Information of KCNT1 | |
| Protein Name | Potassium channel subfamily T member 1 |
| Gene Name | KCNT1 |
| Aliases | KCa4.1, KIAA1422 |
| Organism | Homo sapiens (Human) |
| UniProt ID | Q5JUK3 |
| Transmembrane Times | 6 |
| Length (aa) | 1230 |
| Sequence | MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSLDSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKDQDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAASDTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYMEGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTGYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLAHVASSSQSRKSSCSHKLSSCNPETRDETQL |
Function of KCNT1 Membrane Protein
KCNT1 belongs to the potassium channel, which is also called KCa4.1 - calcium-activated potassium channel. It’s biased expressed in the brain, spleen, and other 2 tissues. The structure and function of potassium channels are both complicated. The various functions are mainly focused on regulating neurotransmitter release, insulin secretion, heart rate, epithelial electrolyte transport, neuronal excitability, cell volume and smooth muscle contraction. KCNT1 plays a functional role in ion conductance and signaling pathway development. It can be activated not only by high intracellular sodium or chloride levels, but also upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. It may be regulated by calcium in the absence of sodium ions (in vitro). Mutations in the KCNT1 gene have been shown to be a cause of Early Infantile Epileptic Encephalopathy, early-onset epileptic disorders, autosomal dominant nocturnal frontal lobe epilepsy, and malignant migrating mechanisms.
Fig.1 Schematic diagram of the location of mutations in KCNT1. (McTague, 2018)
Application of KCNT1 Membrane Protein in Literature
This article describes the current state of the identified gain-of-function potassium channel variants with epilepsy including KCNT1. The authors figure out the mechanism of potassium channel gain-of-function leads to epilepsy, providing new insights into the inner working of neural circuits and aid in developing new therapies.
This article characterizes the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy and shows that KCNT1 pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy.
This study evaluates quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1.
This article reveals that the epilepsy patient with KCNT1 mutations has drug-resistant treated with quinidine. This suggests caution in quinidine’s application for KCNT1 mutated epilepsy.
This article demonstrates that KCNT1 mutations implicated in epilepsy cause a marked increase in function and treatment with quinidine significantly reduces this gain of function for all mutations studied.
KCNT1 Preparation Options
We provide custom membrane protein preparation services for worldwide customers. Leveraging by our advanced Magic™ membrane protein production platform, we are able to present target membrane protein in multiple active formats. Our professional scientists are happy to help you find an ideal method and make your project a success. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-KCNT1 antibody development services.
Creative Biolabs provides high-quality membrane protein preparation service to facilitate the development of worldwide customer’s research. During the past years, we have successfully established a powerful Magic™ membrane protein platform which enables us to provide a series of membrane protein preparation services. For more detailed information, please feel free to contact us.
Reference
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