InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Cacna1a

Summary

InnateDB Protein

IDBP-400934.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Cacna1a

Protein Name

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Synonyms

alpha1A; APCA; BI; Caca1a; Cacnl1a4; Cav2.1; Ccha1a; EA2; FHM; HPCA; la; MHP; MHP1; nmf352; rkr; SCA6; tg;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000112436

InnateDB Gene

IDBG-174190 (Cacna1a)

Protein Structure

UniProt Annotation

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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin- IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Note=Defects in Cacna1a are the cause of a delayed-onset, recessive neurological disorder seen in tottering (tg) mutants, resulting in ataxia, motor seizures and behavioral absence seizures resembling petit mal epilepsy (or absence epilepsy) in humans. There are two more alleles: leaner (tg(lA)), that is characterized by severe ataxia and frequent death past weaning, but no motor seizures; and rolling Nagoya (tg(rol)), that presents an intermediary phenotype, the ataxia being somewhat more severe that with tg, but without motors seizures. Selective degeneration of cerebellar Purkinje cells has been shown for all these types of mutants.

Tissue Specificity

Brain specific; mainly found in the cerebellum, olfactory bulb, cerebral cortex, hippocampus, and inferior colliculus. In the hippocampus, expression occurs in pyramidal and granule neurons, as well as in interneurons. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 89 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	89 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005216	ion channel activity
GO:0005245	voltage-gated calcium channel activity
GO:0005515	protein binding
GO:0008331	high voltage-gated calcium channel activity
GO:0019905	syntaxin binding
GO:0046872	metal ion binding

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0006006	glucose metabolic process
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007214	gamma-aminobutyric acid signaling pathway
GO:0007268	synaptic transmission
GO:0007270	neuron-neuron synaptic transmission
GO:0007274	neuromuscular synaptic transmission
GO:0007416	synapse assembly
GO:0007628	adult walking behavior
GO:0008219	cell death
GO:0014051	gamma-aminobutyric acid secretion
GO:0014056	regulation of acetylcholine secretion
GO:0016049	cell growth
GO:0017156	calcium ion-dependent exocytosis
GO:0017158	regulation of calcium ion-dependent exocytosis
GO:0019226	transmission of nerve impulse
GO:0021522	spinal cord motor neuron differentiation
GO:0021590	cerebellum maturation
GO:0021679	cerebellar molecular layer development
GO:0021680	cerebellar Purkinje cell layer development
GO:0021702	cerebellar Purkinje cell differentiation
GO:0021750	vestibular nucleus development
GO:0021953	central nervous system neuron differentiation
GO:0030644	cellular chloride ion homeostasis
GO:0032353	negative regulation of hormone biosynthetic process
GO:0034765	regulation of ion transmembrane transport
GO:0035249	synaptic transmission, glutamatergic
GO:0042133	neurotransmitter metabolic process
GO:0042391	regulation of membrane potential
GO:0042445	hormone metabolic process
GO:0043113	receptor clustering
GO:0043524	negative regulation of neuron apoptotic process
GO:0048265	response to pain
GO:0048266	behavioral response to pain
GO:0048791	calcium ion-dependent exocytosis of neurotransmitter
GO:0048813	dendrite morphogenesis
GO:0050770	regulation of axonogenesis
GO:0050877	neurological system process
GO:0050883	musculoskeletal movement, spinal reflex action
GO:0050885	neuromuscular process controlling balance
GO:0050905	neuromuscular process
GO:0051899	membrane depolarization
GO:0055085	transmembrane transport
GO:0060024	rhythmic synaptic transmission
GO:0070509	calcium ion import
GO:0086010	membrane depolarization during action potential

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0016020	membrane
GO:0030425	dendrite
GO:0042995	cell projection
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

MGI:109482

InterPro

IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
IPR005448 Voltage-dependent calcium channel, P/Q-type, alpha-1 subunit
IPR005821 Ion transport domain
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain

PFAM

PF00520
PF08016
PF08763

PRINTS

PR00167
PR01632

PIRSF

SMART

SM01062

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt