Human Gene CACNA1G (ENST00000358244.9) from GENCODE V44
Description: Homo sapiens calcium voltage-gated channel subunit alpha1 G (CACNA1G), transcript variant 14, mRNA. (from RefSeq NM_198376) RefSeq Summary (NM_198376): Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]. Gencode Transcript: ENST00000358244.9 Gencode Gene: ENSG00000006283.18 Transcript (Including UTRs) Position: hg38 chr17:50,561,460-50,627,265 Size: 65,806 Total Exon Count: 35 Strand: + Coding Region Position: hg38 chr17:50,561,460-50,626,751 Size: 65,292 Coding Exon Count: 35
ID:CAC1G_HUMAN DESCRIPTION: RecName: Full=Voltage-dependent T-type calcium channel subunit alpha-1G; AltName: Full=Cav3.1c; AltName: Full=NBR13; AltName: Full=Voltage-gated calcium channel subunit alpha Cav3.1; FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channels is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression. DOMAIN: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. DOMAIN: The linker region between repeat III and IV probably play a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane, this by interfering/restricting its lateral diffusion. PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1G subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43497
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005245 voltage-gated calcium channel activity GO:0005248 voltage-gated sodium channel activity GO:0005262 calcium channel activity GO:0008332 low voltage-gated calcium channel activity GO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086059 voltage-gated calcium channel activity involved SA node cell action potential GO:0097110 scaffold protein binding
Biological Process: GO:0001508 action potential GO:0002027 regulation of heart rate GO:0006811 ion transport GO:0006816 calcium ion transport GO:0007268 chemical synaptic transmission GO:0010045 response to nickel cation GO:0019228 neuronal action potential GO:0034765 regulation of ion transmembrane transport GO:0035725 sodium ion transmembrane transport GO:0042391 regulation of membrane potential GO:0045956 positive regulation of calcium ion-dependent exocytosis GO:0055085 transmembrane transport GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization GO:0070509 calcium ion import GO:0070588 calcium ion transmembrane transport GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086010 membrane depolarization during action potential GO:0086015 SA node cell action potential GO:0086016 AV node cell action potential GO:0086018 SA node cell to atrial cardiac muscle cell signalling GO:0086027 AV node cell to bundle of His cell signaling GO:0086045 membrane depolarization during AV node cell action potential GO:0086046 membrane depolarization during SA node cell action potential GO:0086091 regulation of heart rate by cardiac conduction