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SCN5A_ENST00000333535 ,SCN5A ,Q14524
  • Uniprot Accession= Q14524
  • Ensembl Transcript= ENST00000333535.8
  • Uniprot Name= SCN5A
  • Name= Sodium channel protein type 5 subunit alpha
  • Chromosome= chr3
  • Driver status= Not Cancer Driver
  • Number of GO Term: 96
GO term
GO name
GO namespace
GO def
GO:0048518 positive regulation of biological process biological_process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. [GOC:jid]
GO:0098797 plasma membrane protein complex cellular_component Any protein complex that is part of the plasma membrane. [GOC:dos]
GO:0023052 signaling biological_process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. [GOC:mtg_signal, GOC:mtg_signaling_feb11, GOC:signaling]
GO:0010959 regulation of metal ion transport biological_process Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:dph, GOC:tb]
GO:0060048 cardiac muscle contraction biological_process Muscle contraction of cardiac muscle tissue. [GOC:dph]
GO:0030018 Z disc cellular_component Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [GOC:mtg_muscle, ISBN:0815316194]
GO:1904062 regulation of cation transmembrane transport biological_process Any process that modulates the frequency, rate or extent of cation transmembrane transport. [GO_REF:0000058, GOC:TermGenie, PMID:15304482]
GO:0005488 binding molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. [GOC:ceb, GOC:mah, ISBN:0198506732]
GO:0019899 enzyme binding molecular_function Binding to an enzyme, a protein with catalytic activity. [GOC:jl]
GO:0005215 transporter activity molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. [GOC:ai, GOC:dgf]
GO:0042475 odontogenesis of dentin-containing tooth biological_process The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. [GOC:cjm, GOC:mah, GOC:mtg_sensu, PMID:10333884, PMID:15355794]
GO:0006814 sodium ion transport biological_process The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
GO:0042391 regulation of membrane potential biological_process Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. [GOC:jl, GOC:mtg_cardio, GOC:tb, ISBN:0198506732]
GO:0022857 transmembrane transporter activity molecular_function Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. [GOC:jid, GOC:mtg_transport, ISBN:0815340729]
GO:0044057 regulation of system process biological_process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. [GOC:jl]
GO:0002028 regulation of sodium ion transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:dph]
GO:0048856 anatomical structure development biological_process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. [GO_REF:0000021]
GO:0045121 membrane raft cellular_component Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. [PMID:16645198, PMID:20044567]
GO:0042221 response to chemical biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. [GOC:jl]
GO:0019901 protein kinase binding molecular_function Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. [GOC:jl]
GO:0022890 inorganic cation transmembrane transporter activity molecular_function Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. [GOC:ai, GOC:mtg_transport, ISBN:0815340729]
GO:0016020 membrane cellular_component A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. [GOC:dos, GOC:mah, ISBN:0815316194]
GO:0022803 passive transmembrane transporter activity molecular_function Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. [GOC:mtg_transport, ISBN:0815340729]
GO:0034762 regulation of transmembrane transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. [GOC:mah]
GO:0015267 channel activity molecular_function Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. [GOC:mtg_transport, ISBN:0815340729]
GO:0016021 integral component of membrane cellular_component The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. [GOC:dos, GOC:go_curators]
GO:0005654 nucleoplasm cellular_component That part of the nuclear content other than the chromosomes or the nucleolus. [GOC:ma, ISBN:0124325653]
GO:0043269 regulation of ion transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:jl]
GO:0051716 cellular response to stimulus biological_process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. [GOC:bf, GOC:jl]
GO:0008092 cytoskeletal protein binding molecular_function Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). [GOC:mah]
GO:0050801 ion homeostasis biological_process Any process involved in the maintenance of an internal steady state of ions within an organism or cell. [GOC:ai]
GO:0070161 anchoring junction cellular_component A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. [ISBN:0815332181]
GO:0034703 cation channel complex cellular_component An ion channel complex through which cations pass. [GOC:mah]
GO:0015075 ion transmembrane transporter activity molecular_function Enables the transfer of an ion from one side of a membrane to the other. [GOC:dgf, GOC:mtg_transport, ISBN:0815340729]
GO:0006937 regulation of muscle contraction biological_process Any process that modulates the frequency, rate or extent of muscle contraction. [GOC:go_curators]
GO:0015318 inorganic molecular entity transmembrane transporter activity molecular_function Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. [GOC:mtg_transport, ISBN:0815340729]
GO:0098796 membrane protein complex cellular_component Any protein complex that is part of a membrane. [GOC:dos]
GO:0050789 regulation of biological process biological_process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. [GOC:ai, GOC:go_curators]
GO:0046873 metal ion transmembrane transporter activity molecular_function Enables the transfer of metal ions from one side of a membrane to the other. [GOC:ai]
GO:0034702 ion channel complex cellular_component A protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient. [GOC:mah, ISBN:071673706X]
GO:0051239 regulation of multicellular organismal process biological_process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. [GOC:ai, GOC:dph, GOC:tb]
GO:0044853 plasma membrane raft cellular_component A membrane raft that is part of the plasma membrane. [GOC:jl]
GO:0048471 perinuclear region of cytoplasm cellular_component Cytoplasm situated near, or occurring around, the nucleus. [GOC:jid]
GO:0050679 positive regulation of epithelial cell proliferation biological_process Any process that activates or increases the rate or extent of epithelial cell proliferation. [GOC:ai]
GO:0032991 protein-containing complex cellular_component A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. [GOC:dos, GOC:mah]
GO:1990351 transporter complex cellular_component A protein complex facilitating transport of molecules (proteins, small molecules, nucleic acids) into, out of or within a cell, or between cells. [GOC:bhm, PMID:15449578]
GO:0032501 multicellular organismal process biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. [GOC:curators, GOC:dph, GOC:isa_complete, GOC:tb]
GO:0048878 chemical homeostasis biological_process Any biological process involved in the maintenance of an internal steady state of a chemical. [GOC:isa_complete]
GO:0070887 cellular response to chemical stimulus biological_process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. [GOC:mah]
GO:0034765 regulation of ion transmembrane transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. [GOC:mah]
GO:0065007 biological regulation biological_process Any process that modulates a measurable attribute of any biological process, quality or function. [GOC:dph, GOC:isa_complete, GOC:mah, GOC:pr, GOC:vw]
GO:0050794 regulation of cellular process biological_process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. [GOC:go_curators]
GO:0051270 regulation of cellular component movement biological_process Any process that modulates the frequency, rate or extent of the movement of a cellular component. [GOC:ai, GOC:dph, GOC:jl]
GO:0042383 sarcolemma cellular_component The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. [ISBN:0198506732]
GO:0009987 cellular process biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. [GOC:go_curators, GOC:isa_complete]
GO:0017134 fibroblast growth factor binding molecular_function Binding to a fibroblast growth factor. [PMID:9806903]
GO:0005515 protein binding molecular_function Binding to a protein. [GOC:go_curators]
GO:0005516 calmodulin binding molecular_function Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. [GOC:krc]
GO:0035725 sodium ion transmembrane transport biological_process A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. [GOC:vw]
GO:0032879 regulation of localization biological_process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. [GOC:mah]
GO:0008324 cation transmembrane transporter activity molecular_function Enables the transfer of cation from one side of a membrane to the other. [GOC:dgf, GOC:mtg_transport, ISBN:0815340729]
GO:0009888 tissue development biological_process The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. [ISBN:0471245208]
GO:0032970 regulation of actin filament-based process biological_process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the actin cytoskeleton. [GOC:mah]
GO:0098590 plasma membrane region cellular_component A membrane that is a (regional) part of the plasma membrane. [GOC:dos]
GO:0005730 nucleolus cellular_component A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. [ISBN:0198506732]
GO:0005261 cation channel activity molecular_function Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. [GOC:def, GOC:dph, GOC:mtg_transport, GOC:pr, ISBN:0815340729]
GO:0050896 response to stimulus biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. [GOC:ai, GOC:bf]
GO:1902495 transmembrane transporter complex cellular_component A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other. [GOC:bhm, GOC:TermGenie, PMID:18024586]
GO:0009986 cell surface cellular_component The external part of the cell wall and/or plasma membrane. [GOC:jl, GOC:mtg_sensu, GOC:sm]
GO:0110165 cellular anatomical entity cellular_component A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. [GOC:kmv]
GO:0010038 response to metal ion biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. [GOC:sm]
GO:0051050 positive regulation of transport biological_process Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
GO:0015081 sodium ion transmembrane transporter activity molecular_function Enables the transfer of sodium ions (Na+) from one side of a membrane to the other. [GOC:ai, GOC:BHF]
GO:0051049 regulation of transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
GO:0005272 sodium channel activity molecular_function Enables the facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. [GOC:BHF, GOC:mtg_transport, GOC:pr, ISBN:0815340729]
GO:0065008 regulation of biological quality biological_process Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. [GOC:dph, GOC:isa_complete, GOC:mah, GOC:pr, GOC:vw]
GO:0001508 action potential biological_process A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. [GOC:dph, GOC:go_curators, GOC:tb, ISBN:978-0-07-139011-8]
GO:0005911 cell-cell junction cellular_component A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. [GOC:aruk, GOC:bc, GOC:dgh, GOC:hb, GOC:mah, PMID:21422226, PMID:28096264]
GO:0010035 response to inorganic substance biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an inorganic substance stimulus. [GOC:sm]
GO:0005216 ion channel activity molecular_function Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). [GOC:cy, GOC:mtg_transport, GOC:pr, ISBN:0815340729]
GO:0043270 positive regulation of ion transport biological_process Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:jl]
GO:0005783 endoplasmic reticulum cellular_component The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). [ISBN:0198506732]
GO:0044325 transmembrane transporter binding molecular_function Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. [GOC:BHF, GOC:jl, PMID:33199372]
GO:0031625 ubiquitin protein ligase binding molecular_function Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. [GOC:vp]
GO:0005244 voltage-gated ion channel activity molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. [GOC:mtg_transport, ISBN:0198506732, ISBN:0815340729]
GO:0042592 homeostatic process biological_process Any biological process involved in the maintenance of an internal steady state. [GOC:jl, ISBN:0395825172]
GO:0098857 membrane microdomain cellular_component A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. [PMID:20044567, PMID:26253820]
GO:0060537 muscle tissue development biological_process The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. [GOC:dph]
GO:0032502 developmental process biological_process A biological process whose specific outcome is the progression of an integrated living unit
GO:0014706 striated muscle tissue development biological_process The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. [CL:0000737, GOC:dph, GOC:mtg_muscle]
GO:0030054 cell junction cellular_component A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. [GOC:aruk, GOC:bc, GOC:mah, http://www.vivo.colostate.edu/hbooks/cmb/cells/pmemb/junctions_a.html, ISBN:0198506732, PMID:26820516, PMID:28096264]
GO:0007154 cell communication biological_process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. [GOC:mah]
GO:0048738 cardiac muscle tissue development biological_process The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. [GOC:dph, GOC:jid, GOC:lm]
GO:0005886 plasma membrane cellular_component The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. [ISBN:0716731363]
GO:0044291 cell-cell contact zone cellular_component Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. [NIF_Subcellular:sao1299635018]
GO:0008016 regulation of heart contraction biological_process Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. [GOC:dph, GOC:go_curators, GOC:tb]