InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNA1H

Summary

InnateDB Protein

IDBP-746516.3

Last Modified

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

Gene Symbol

CACNA1H

Protein Name

Synonyms

CACNA1HB; Cav3.2; ECA6; EIG6;

Species

Homo sapiens

Ensembl Protein

ENSP00000455840

InnateDB Gene

IDBG-8546 (CACNA1H)

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-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and 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 Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Epilepsy, childhood absence 6 (ECA6) [MIM:611942]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269PubMed:12891677}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0008332	low voltage-gated calcium channel activity
GO:0046872	metal ion binding
GO:0097110	scaffold protein binding

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006936	muscle contraction
GO:0007411	axon guidance
GO:0007517	muscle organ development
GO:0007520	myoblast fusion
GO:0008016	regulation of heart contraction
GO:0032342	aldosterone biosynthetic process
GO:0032870	cellular response to hormone stimulus
GO:0034651	cortisol biosynthetic process
GO:0034765	regulation of ion transmembrane transport
GO:0035865	cellular response to potassium ion
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport
GO:0070509	calcium ion import
GO:0086010	membrane depolarization during action potential
GO:2000344	positive regulation of acrosome reaction

Cellular Component

GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR003915 Polycystic kidney disease type 2 protein
IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit
IPR005821 Ion transport domain
IPR013122 Polycystin cation channel, PKD1/PKD2

PFAM

PF00520
PF08016

PRINTS

PR01433
PR01629

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O95180