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QuickView for CACNA1S (gene)


Gene Symbol:
CACNA1S Homo sapiens Homo sapiens
Full name:
calcium channel, voltage-dependent, L type, alpha 1S subunit
Synonyms:
HOKPP, HOKPP1, hypoPP, voltage-dependent L-type calcium channel subunit alpha-1S, voltage-gated calcium channel subunit alpha Cav1.1, TTPP1, MHS5, OTTHUMP00000033931, CACNL1A3, calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis), calcium channel, voltage-dependent, L type, alpha 1S subunit, CCHL1A3, Cav1.1, dihydropyridine receptor, dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
Genomic Location:
Chr 1: 199275263-199348317
Description:
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq]
Orthologs:
Mus musculus Macaca mulatta Pan troglodytes Canis lupus familiaris Danio rerio
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Cytogenetic Map:
chr 1
1q32


Transcripts Names
NM_000069
Protein Names
Q12896
Q13698
Q13934
A4IF51
B1ALM2



GO Molecular Function

high voltage-gated calcium channel activity | voltage-gated ion channel activity | passive transmembrane transporter activity | transmembrane transporter activity | voltage-gated calcium channel activity | cation transmembrane transporter activity | transporter activity | calcium ion transmembrane transporter activity | ion transmembrane transporter activity | gated channel activity | divalent inorganic cation transmembrane transporter activity | substrate-specific transmembrane transporter activity | metal ion transmembrane transporter activity | voltage-gated cation channel activity | cation channel activity | substrate-specific transporter activity | inorganic cation transmembrane transporter activity | voltage-gated channel activity | channel activity | calcium channel activity | ion channel activity | substrate-specific channel activity

GO Biological Process

cell morphogenesis | regulation of biological process | myoblast fusion | neuron projection morphogenesis | muscle tissue development | regulation of localization | syncytium formation by plasma membrane fusion | high voltage-gated calcium channel activity | eye development | establishment of localization | cell differentiation | striated muscle cell development | nervous system development | cell part morphogenesis | neurogenesis | voltage-gated ion channel activity | generation of neurons | cellular process | localization | cell projection morphogenesis | passive transmembrane transporter activity | metal ion transport | neuron development | axon guidance | tissue development | muscle structure development | muscle cell differentiation | skeletal muscle organ development | regulation of cellular process | cellular component organization or biogenesis | transmembrane transporter activity | striated muscle adaptation | cellular component organization | muscle contraction | response to stimulus | muscle cell development | cell morphogenesis involved in neuron differentiation | regulation of transmembrane transport | response to chemical stimulus | transport | muscle adaptation | skeletal muscle tissue development | extraocular skeletal muscle development | divalent metal ion transport | muscle fiber development | voltage-gated calcium channel activity | locomotion | system development | multicellular organismal development | syncytium formation | calcium ion transmembrane transport | taxis | ion transmembrane transport | cation transmembrane transporter activity | neuromuscular junction development | single-organism process | transporter activity | calcium ion transmembrane transporter activity | synapse organization | ion transmembrane transporter activity | axonogenesis | gated channel activity | divalent inorganic cation transmembrane transporter activity | biological regulation | substrate-specific transmembrane transporter activity | cell morphogenesis involved in differentiation | sensory organ development | striated muscle tissue development | system process | striated muscle contraction | striated muscle cell differentiation | neuron differentiation | cellular component organization at cellular level | skeletal muscle adaptation | cellular developmental process | metal ion transmembrane transporter activity | anatomical structure development | voltage-gated cation channel activity | cell projection organization | calcium ion transport | neuron projection development | cellular component morphogenesis | organ development | regulation of ion transmembrane transport | camera-type eye development | cation channel activity | anatomical structure formation involved in morphogenesis | substrate-specific transporter activity | transmembrane transport | inorganic cation transmembrane transporter activity | myotube differentiation | cell development | cellular component organization or biogenesis at cellular level | voltage-gated channel activity | anatomical structure morphogenesis | cation transport | channel activity | regulation of ion transport | developmental process | response to external stimulus | organelle organization | calcium channel activity | regulation of transport | single-multicellular organism process | divalent inorganic cation transport | ion channel activity | ion transport | skeletal system development | endoplasmic reticulum organization | chemotaxis | substrate-specific channel activity | skeletal muscle cell differentiation | muscle organ development | muscle system process | skeletal muscle fiber development | multicellular organismal process

GO Cellular Component

integral to membrane | sarcoplasmic reticulum | intracellular membrane-bounded organelle | sarcolemma | plasma membrane part | sarcomere | voltage-gated calcium channel complex | cell | intrinsic to membrane | intracellular non-membrane-bounded organelle | myofibril | cytoplasm | intracellular organelle | endoplasmic reticulum | contractile fiber part | contractile fiber | macromolecular complex | plasma membrane | organelle part | membrane part | T-tubule | cell part | calcium channel complex | membrane-bounded organelle | organelle | I band | sarcoplasm | cell periphery | cytoplasmic part | cation channel complex | ion channel complex | non-membrane-bounded organelle | intracellular part | intracellular | membrane | protein complex