UniProt functional annotation for Q5JUK3



	UniProt functional annotation for Q5JUK3

UniProt code: Q5JUK3.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). {ECO:0000250}.

Subunit: Interacts (via C-terminus) with FMR1; this interaction alters gating properties of KCNT1 (PubMed:20512134). Interacts with CRBN via its cytoplasmic C-terminus (By similarity). {ECO:0000250|UniProtKB:Q9Z258, ECO:0000269|PubMed:20512134}.

Subcellular location: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Tissue specificity: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed:10718198}.

Ptm: Phosphorylated by protein kinase C. Phosphorylation of the C- terminal domain increases channel activity (By similarity). {ECO:0000250}.

Disease: Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959]: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO:0000269|PubMed:23086397, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24029078, ECO:0000269|PubMed:24463883, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO:0000269|PubMed:23086396}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. {ECO:0000305}.

Sequence caution: Sequence=BAA92660.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). {ECO:0000250}.


Subunit:		Interacts (via C-terminus) with FMR1; this interaction alters gating properties of KCNT1 (PubMed:20512134). Interacts with CRBN via its cytoplasmic C-terminus (By similarity). {ECO:0000250\|UniProtKB:Q9Z258, ECO:0000269\|PubMed:20512134}.
Subcellular location:		Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Tissue specificity:		Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269\|PubMed:10718198}.
Ptm:		Phosphorylated by protein kinase C. Phosphorylation of the C- terminal domain increases channel activity (By similarity). {ECO:0000250}.
Disease:		Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959]: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO:0000269\|PubMed:23086397, ECO:0000269\|PubMed:23708187, ECO:0000269\|PubMed:24029078, ECO:0000269\|PubMed:24463883, ECO:0000269\|PubMed:26993267, ECO:0000269\|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO:0000269\|PubMed:23086396}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. {ECO:0000305}.
Sequence caution:		Sequence=BAA92660.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};