InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNB4

Summary

InnateDB Protein

IDBP-587535.3

Last Modified

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

Gene Symbol

CACNB4

Protein Name

calcium channel, voltage-dependent, beta 4 subunit

Synonyms

CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6;

Species

Homo sapiens

Ensembl Protein

ENSP00000443893

InnateDB Gene

IDBG-72371 (CACNB4)

Protein Structure

UniProt Annotation

Function

The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Subcellular Localization

Disease Associations

Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: 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. {ECO:0000269PubMed:10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO:0000269PubMed:10762541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in the cerebellum and kidney.

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 2 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	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005245	voltage-gated calcium channel activity
GO:0005515	protein binding
GO:0008331	high voltage-gated calcium channel activity

Biological Process

GO:0006810	transport
GO:0007268	synaptic transmission
GO:0007411	axon guidance
GO:0051899	membrane depolarization
GO:0070588	calcium ion transmembrane transport
GO:1901385	regulation of voltage-gated calcium channel activity

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0009898	cytoplasmic side of plasma membrane
GO:0045202	synapse

Protein Structure and Domains

PDB ID

InterPro

IPR000584 Voltage-dependent calcium channel, L-type, beta subunit
IPR001452 SH3 domain
IPR008079 Voltage-dependent calcium channel, L-type, beta-3 subunit
IPR008145 Guanylate kinase/L-type calcium channel beta subunit
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF12052
PF00018
PF14604
PF00625

PRINTS

PR01626
PR00452
PR01696

PIRSF

SMART

SM00326
SM00072

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt