Protein Name: Potassium voltage-gated channel subfamily KQT member 1
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UniprotKB/SwissProt ID: KCNQ1_HUMAN (P51787)
Gene Name: KCNQ1
Synonyms: KCNA8, KCNA9, KVLQT1
Organism: Homo sapiens (Human).
Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea.
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein.
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PDB :
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Protein disease:
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| Disease database |
Database Entry |
Disease information | | KEGG | H00409 | Type II diabetes mellitus | | KEGG | H00720 | Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS) | | KEGG | H00725 | Short QT syndrome | | KEGG | H00731 | Atrial fibrillation | | OMIM | 130650 | BECKWITH-WIEDEMANN SYNDROME; BWS ;;EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;; EMG SYNDROME | | OMIM | 192500 | LONG QT SYNDROME 1; LQT1 ;;WARD-ROMANO SYNDROME; WRS;; ROMANO-WARD SYNDROME; RWS;; VENTRICUL | | OMIM | 220400 | JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 ;;DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DIS | | OMIM | 607542 | POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1 ;;KVLQT1;; POTASSIUM C | | OMIM | 607554 | ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 | | OMIM | 609621 | SHORT QT SYNDROME 2; SQT2 | | HPRD | 06341 | Atrial fibrillation, familial | | HPRD | 06341 | Jervell and Lange-Nielsen syndrome | | HPRD | 06341 | Long qt syndrome 1 | | HPRD | 06341 | Long qt syndrome 1, recessive | | HPRD | 06341 | Long qt syndrome 1/2, digenic | | HPRD | 06341 | Short qt syndrome 2 |
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Network with metabolic pathway:
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Graphical Visualization of S-nitrosylation Sites:
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| Overview of Protein S-nitrosylation Sites with Functional and Structural Information |  |
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