Gene Information | |
---|---|
Gene Name | KCNQ1 |
Organism | Homo sapiens (Human) |
Gene Length | 676 |
Protein Names | Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1) |
Target Name | voltage-gated potassium channel kv7.1 |
Target Type | Successful target |
Gene Age | 544 ( ENSG00000053918 ) 3 ( ENSG00000282076 ) |
Evolutionary Stage | Eumetazoa |
AlphaFoldDB | P51787 |
Gene Card | KCNQ1 |
Uniprot ID | P51787 |
Pfam | PF00520; PF03520 |
In ASD | yes |
Allosteric Prediction | yes (1.693318234) |
Ortholog in Animals | Alpaca_ KCNQ1 ( ortholog_one2one ) Dog_ KCNQ1 ( ortholog_one2one ) GuineaPig_ KCNQ1 ( ortholog_one2one ) Macaque_ KCNQ1 ( ortholog_one2one ) Mouse_ Kcnq1 ( ortholog_one2one ) Pig_ KCNQ1 ( ortholog_one2one ) Rat_ Kcnq1 ( ortholog_one2one ) Rabbit_ KCNQ1 ( ortholog_one2one ) |
Ohnologs | NA |
Paralogs | KCNS1, KCND1, KCNA7, KCNB2, KCNG3, KCNQ3, KCNC4, KCNV1, KCNA1, KCNQ4, KCNA10, KCNC3, KCNV2, KCND3, KCNQ2, KCNB1, KCNA6, KCNA2, KCNA5, KCNG1, KCND2, KCNC1, KCNC2, KCNA4, KCNA3, KCNQ5, KCNF1, KCNG2, KCNG4, KCNS3, KCNS2 |
Tissue | NA |
Tissue Specificity | Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. |
Pharmacological Animal Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 3BJ4 (X-ray 2.00A ) 3HFC (X-ray 2.45A ) 3HFE (X-ray 1.70A ) 4UMO (X-ray 3.00A ) 4V0C (X-ray 2.86A ) 6MIE (NMR - ) 6UZZ (EM 3.10A ) 6V00 (EM 3.10A ) 6V01 (EM 3.90A ) |
DBSNP | rs199473442 rs199473443 rs199473671 rs199473446 rs199472676 rs199472678 rs199472679 rs120074191 rs199472681 rs199472682 rs199473449 rs199472685 rs199472686 rs199473450 rs120074192 rs199473451 rs199472688 rs143709408 rs199472690 rs199473453 rs199472692 rs179489 rs199472694 rs199472695 rs199472696 rs199472697 rs199472697 rs120074177 rs120074177 rs199473394 rs199473661 rs199473397 rs199473398 rs104894252 rs120074178 rs120074178 rs199473662 rs199473401 rs199472698 rs199472699 rs150172393 rs199472700 rs199472701 rs199472702 rs199472703 rs199473455 rs199472704 rs17215479 rs199472706 rs199473456 rs199473457 rs199472709 rs199472710 rs199473458 rs199472711 rs199472712 rs199472713 rs120074196 rs120074196 rs397508123 rs199473459 rs199472715 rs199472715 rs120074179 rs120074179 rs199472717 rs199472718 rs199472719 rs199472720 rs199472720 rs199472721 rs199472722 rs199472723 rs199472724 rs199473460 rs199472725 rs120074194 rs120074193 rs199472726 rs120074180 rs199472727 rs199472728 rs199472729 rs199472730 rs199473461 rs199472730 rs199472731 rs199473462 rs199472732 rs199472733 rs199473463 rs199472735 rs199473464 rs199472736 rs199472737 rs199472738 rs120074187 rs193922365 rs199472739 rs193922365 rs199472740 rs199473466 rs199472741 rs120074186 rs120074181 rs199472742 rs120074195 rs199473467 rs199472743 rs199472745 rs199472746 rs120074182 rs199472747 rs120074184 rs199472748 rs120074184 rs120074184 rs74462309 rs74462309 rs199472749 rs104894255 rs199472749 rs199472751 rs199472752 rs199472753 rs199473470 rs199472753 rs199472754 rs199472755 rs199472756 rs199472759 rs199472759 rs12720459 rs12720459 rs12720459 rs199472760 rs199472761 rs199472761 rs199472762 rs199472763 rs199472763 rs120074183 rs199473471 rs199472764 rs199472765 rs199472824 rs199473402 rs199473403 rs199473404 rs199473406 rs199473407 rs199473407 rs12720458 rs199473409 rs199473410 rs199473410 rs199473411 rs199473412 rs199473472 rs199472766 rs199472767 rs199472768 rs199472771 rs199473473 rs199472772 rs199472773 rs199473474 rs199472774 rs199472775 rs12720457 rs199472776 rs199472777 rs267607197 rs199472780 rs12720449 rs12720449 rs199472782 rs140452381 rs199473476 rs199472783 rs199472784 rs199472785 rs17215500 rs145974930 rs145974930 rs199473479 rs199472789 rs199472790 rs120074188 rs199472791 rs199472792 rs199472793 rs199472794 rs199472795 rs199472796 rs199472797 rs199473480 rs199472798 rs199472799 rs199473481 rs120074185 rs199472800 rs120074185 rs199472801 rs199472804 rs199472803 rs199472804 rs199472805 rs199472805 rs199472807 rs199472808 rs199472809 rs199472810 rs17221854 rs199473482 rs199472812 rs120074189 rs120074190 rs199472813 rs199473483 rs199472814 rs199472815 rs199472815 rs199472816 rs34516117 rs147445322 rs397508101 rs199472819 rs199472821 rs199473484 rs1800172 |
Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:22024150, ECO:0000269|PubMed:25037568}; Multi-pass membrane protein {ECO:0000269|PubMed:18165683}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:18165683, ECO:0000269|PubMed:23529131}. Early endosome {ECO:0000269|PubMed:23529131}. Membrane raft {ECO:0000269|PubMed:20533308, ECO:0000269|PubMed:24855057}. Endoplasmic reticulum {ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:24855057}. Basolateral cell membrane {ECO:0000269|PubMed:21228319}. Note=Colocalized with KCNE3 at the plasma membrane (PubMed:10646604). Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed:23529131). Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed:24855057). During the early stages of epithelial cell polarization induced by the calcium switch, it is removed from the plasma membrane to the endoplasmic reticulum, where it is retained, and redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage (PubMed:21228319). {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:21228319, ECO:0000269|PubMed:23529131, ECO:0000269|PubMed:24855057}. |
Mouse PG classification | HPG |
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