9KVO | pdb_00009kvo

Crystal Structure of the Kv7.1 C-terminal Domain in Complex with Calmodulin disease mutation D132E

External Resource: Annotation

Gene Ontology: Gene Product Annotation
InterPro: Protein Family Classification
Pharos: Disease Associations

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
C, D	Calmodulin-1	cytoskeletal protein binding titin binding protein binding binding enzyme regulator activity protein phosphatase activator activity enzyme activator activity phosphatase activator activity molecular function activator activity phosphatase regulator activity molecular function regulator activity protein phosphatase regulator activity channel regulator activity ion channel regulator activity cytoskeletal protein binding titin binding protein binding binding enzyme regulator activity protein phosphatase activator activity enzyme activator activity phosphatase activator activity molecular function activator activity phosphatase regulator activity molecular function regulator activity protein phosphatase regulator activity channel regulator activity ion channel regulator activity calcium channel regulator activity transporter regulator activity molecular function inhibitor activity transporter inhibitor activity calcium channel inhibitor activity ion channel inhibitor activity channel inhibitor activity cyclase regulator activity cyclase activator activity adenylate cyclase regulator activity adenylate cyclase activator activity protein serine/threonine kinase activator activity kinase activator activity protein kinase activator activity protein kinase regulator activity kinase regulator activity cation binding ion binding calcium ion binding metal ion binding small molecule binding transmembrane transporter binding kinase binding enzyme binding protein kinase binding calcium-dependent protein binding	organelle localization by membrane tethering localization organelle localization cellular process membrane docking heart process multicellular organismal process system process regulation of biological process regulation of heart contraction regulation of system process biological regulation circulatory system process regulation of blood circulation organelle localization by membrane tethering localization organelle localization cellular process membrane docking heart process multicellular organismal process system process regulation of biological process regulation of heart contraction regulation of system process biological regulation circulatory system process regulation of blood circulation regulation of multicellular organismal process regulation of biological quality heart contraction blood circulation regulation of heart rate regulation of localization regulation of calcium ion transport negative regulation of ion transmembrane transporter activity regulation of cellular process negative regulation of calcium ion transmembrane transporter activity intracellular calcium ion homeostasis negative regulation of biological process negative regulation of ryanodine-sensitive calcium-release channel activity negative regulation of transport calcium ion transport negative regulation of cation transmembrane transport monoatomic cation homeostasis monoatomic cation transport intracellular monoatomic ion homeostasis regulation of release of sequestered calcium ion into cytosol regulation of monoatomic ion transport establishment of localization maintenance of location transmembrane transport regulation of molecular function release of sequestered calcium ion into cytosol regulation of transmembrane transport chemical homeostasis negative regulation of calcium ion transmembrane transport cellular localization inorganic ion homeostasis transport homeostatic process negative regulation of monoatomic ion transport monoatomic ion transmembrane transport positive regulation of biological process regulation of transmembrane transporter activity calcium ion homeostasis regulation of monoatomic ion transmembrane transport negative regulation of sequestering of calcium ion negative regulation of transmembrane transport metal ion transport maintenance of location in cell regulation of calcium ion transmembrane transport monoatomic cation transmembrane transport positive regulation of sequestering of calcium ion negative regulation of monoatomic ion transmembrane transport negative regulation of release of sequestered calcium ion into cytosol intracellular monoatomic cation homeostasis negative regulation of cellular process monoatomic ion homeostasis monoatomic ion transport intracellular chemical homeostasis regulation of metal ion transport regulation of sequestering of calcium ion positive regulation of cellular process calcium ion transmembrane import into cytosol regulation of transport sequestering of calcium ion negative regulation of transporter activity negative regulation of molecular function negative regulation of calcium ion transport cellular homeostasis regulation of ryanodine-sensitive calcium-release channel activity regulation of monoatomic cation transmembrane transport calcium ion transmembrane transport response to stimulus response to metal ion response to chemical response to calcium ion sarcoplasmic reticulum calcium ion transport release of sequestered calcium ion into cytosol by sarcoplasmic reticulum release of sequestered calcium ion into cytosol by endoplasmic reticulum regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum negative regulation of voltage-gated calcium channel activity regulation of voltage-gated calcium channel activity negative regulation of high voltage-gated calcium channel activity cellular component disassembly catabolic process protein-containing complex organization macroautophagy autophagy protein-containing complex disassembly cellular component organization autophagosome maturation autophagosome membrane docking metabolic process cellular component organization or biogenesis process utilizing autophagic mechanism cellular response to interferon-beta response to peptide response to interferon-beta response to cytokine cellular response to cytokine stimulus regulation of cytokinesis regulation of cell cycle process cytokinesis regulation of cell division cell division cell cycle regulation of cell cycle cell cycle process cellular response to stimulus cardiac muscle contraction intracellular signal transduction cell communication intracellular signaling cassette signal transduction regulation of cardiac muscle contraction muscle contraction regulation of striated muscle contraction calcium-mediated signaling regulation of muscle contraction signaling regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion striated muscle contraction regulation of cardiac muscle contraction by calcium ion signaling muscle system process regulation of muscle system process mitochondrion-endoplasmic reticulum membrane tethering import into cell presynaptic endocytosis vesicle-mediated transport vesicle-mediated transport in synapse establishment of localization in cell endocytosis cell cycle G2/M phase transition mitotic cell cycle process G2/M transition of mitotic cell cycle cell cycle phase transition mitotic cell cycle mitotic cell cycle phase transition cell communication by electrical coupling involved in cardiac conduction cell communication by electrical coupling regulation of cell communication by electrical coupling involved in cardiac conduction cardiac conduction regulation of cell communication cell communication involved in cardiac conduction regulation of cell communication by electrical coupling export across plasma membrane negative regulation of calcium ion export across plasma membrane regulation of calcium ion export across plasma membrane calcium ion export across plasma membrane export from cell biological process involved in interspecies interaction between organisms immune response response to other organism defense response response to type II interferon defense response to symbiont response to external stimulus cellular response to type II interferon response to biotic stimulus immune system process defense response to other organism response to stress innate immune response response to external biotic stimulus calcineurin-mediated signaling developmental process head development animal organ development brain development nervous system development substantia nigra development multicellular organism development central nervous system development midbrain development anatomical structure development neural nucleus development system development positive regulation of cell communication cell surface receptor signaling pathway via STAT positive regulation of signal transduction positive regulation of receptor signaling pathway via STAT regulation of signal transduction positive regulation of receptor signaling pathway via JAK-STAT positive regulation of response to stimulus regulation of receptor signaling pathway via JAK-STAT regulation of signaling cell surface receptor signaling pathway regulation of response to stimulus regulation of receptor signaling pathway via STAT cell surface receptor signaling pathway via JAK-STAT positive regulation of signaling regulation of intracellular signal transduction regulation of calcium-mediated signaling regulation of action potential regulation of cardiac muscle cell action potential action potential cardiac muscle cell action potential regulation of membrane potential G protein-coupled receptor signaling pathway modulation of chemical synaptic transmission long-term synaptic potentiation synaptic signaling regulation of synaptic plasticity trans-synaptic signaling cell-cell signaling positive regulation of synaptic transmission chemical synaptic transmission regulation of trans-synaptic signaling anterograde trans-synaptic signaling detection of stimulus detection of chemical stimulus detection of calcium ion	intracellular organelle cellular anatomical structure intracellular anatomical structure cytoskeleton spindle organelle membraneless organelle intracellular membraneless organelle spindle pole microtubule cytoskeleton cytoplasm cytosol membrane-bounded organelle cell projection intracellular organelle cellular anatomical structure intracellular anatomical structure cytoskeleton spindle organelle membraneless organelle intracellular membraneless organelle spindle pole microtubule cytoskeleton cytoplasm cytosol membrane-bounded organelle cell projection sperm midpiece cilium 9+2 motile cilium sperm flagellum motile cilium plasma membrane bounded cell projection protein-containing complex transmembrane transporter complex membrane membrane protein complex cation channel complex transporter complex calcium channel complex monoatomic ion channel complex axon synapse neuron projection axon terminus presynapse distal axon calyx of Held cell junction neuron projection terminus sarcomere contractile muscle fiber supramolecular fiber myofibril supramolecular polymer supramolecular complex myelin sheath vesicle centrosome microtubule organizing center cytosolic region presynaptic cytosol cell periphery plasma membrane catalytic complex nucleus membrane-enclosed lumen intracellular membrane-bounded organelle intracellular organelle lumen nucleoplasm organelle lumen nuclear lumen voltage-gated potassium channel complex plasma membrane protein complex potassium channel complex extracellular region polymeric cytoskeletal fiber spindle microtubule microtubule
A, B	KCNQ1 helixAB	-	-	-

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
C, D	IPR002048	EF-hand domain	Domain
C, D	IPR050230	Calmodulin/Myosin light chain/Troponin C-like	Family
C, D	IPR018247	EF-Hand 1, calcium-binding site	Binding Site
C, D	IPR011992	EF-hand domain pair	Homologous Superfamily

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
C, D	Pharos: P0DP23	long QT syndrome catecholaminergic polymorphic ventricular tachycardia Alzheimer disease long QT syndrome 14 cocaine abuse Weight Gain cannabis dependence cocaine dependence phencyclidine abuse catecholaminergic polymorphic ventricular tachycardia 4 rheumatoid arthritis glioblastoma subependymal giant cell astrocytoma large cell medulloblastoma lung adenocarcinoma long QT syndrome catecholaminergic polymorphic ventricular tachycardia Alzheimer disease long QT syndrome 14 cocaine abuse Weight Gain cannabis dependence cocaine dependence phencyclidine abuse catecholaminergic polymorphic ventricular tachycardia 4 rheumatoid arthritis glioblastoma subependymal giant cell astrocytoma large cell medulloblastoma lung adenocarcinoma malignant colon neoplasm malignant pancreatic neoplasm astrocytic tumor myopathy osteosarcoma pituitary cancer Crohn disease primitive neuroectodermal tumor familial long QT syndrome schizophrenia lung cancer malignant ependymoma atypical teratoid rhabdoid tumor nasopharyngeal carcinoma ovarian cancer catecholaminergic polymorphic ventricular tachycardia 2 Pick disease plasma cell myeloma exocrine pancreatic carcinoma psoriasis sinusitis hepatocellular carcinoma ulcerative colitis lymphoplasmacytic lymphoma malignant glioma amyotrophic lateral sclerosis medulloblastoma breast cancer oligodendroglioma pilocytic astrocytoma

RCSB PDB Core Operations are funded by the U.S. National Science Foundation (DBI-2321666), the US Department of Energy (DE-SC0019749), and the National Cancer Institute, National Institute of Allergy and Infectious Diseases, and National Institute of General Medical Sciences of the National Institutes of Health under grant R01GM157729.