InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CACNA1D

Summary

InnateDB Gene

IDBG-40229.6

Last Modified

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

Gene Symbol

CACNA1D

Gene Name

calcium channel, voltage-dependent, L type, alpha 1D subunit

Synonyms

CACH3; CACN4; CACNL1A2; Cav1.3; CCHL1A2; PASNA; SANDD

Species

Homo sapiens

Ensembl Gene

ENSG00000157388

Encoded Proteins

IDBP-40231

calcium channel, voltage-dependent, L type, alpha 1D subunit

IDBP-40233

calcium channel, voltage-dependent, L type, alpha 1D subunit

IDBP-379954

calcium channel, voltage-dependent, L type, alpha 1D subunit

IDBP-478672

calcium channel, voltage-dependent, L type, alpha 1D subunit

IDBP-484933

calcium channel, voltage-dependent, L type, alpha 1D subunit

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Voltage-dependent 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:53494656-53813733

Strand

Forward strand

Band

p21.1

Transcripts

ENST00000350061	ENSP00000288133
ENST00000288139	ENSP00000288139
ENST00000422281	ENSP00000409174
ENST00000481085	ENSP00000418045
ENST00000464429
ENST00000481478	ENSP00000418014
ENST00000498251

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
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:0005216	ion channel activity
GO:0005245	voltage-gated calcium channel activity
GO:0005515	protein binding
GO:0008331	high voltage-gated calcium channel activity
GO:0030506	ankyrin binding
GO:0046872	metal ion binding
GO:0051393	alpha-actinin binding
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential

Biological Process

GO:0006112	energy reserve metabolic process
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007411	axon guidance
GO:0007605	sensory perception of sound
GO:0034765	regulation of ion transmembrane transport
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0051928	positive regulation of calcium ion transport
GO:0055085	transmembrane transport
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization
GO:0070509	calcium ion import
GO:0070588	calcium ion transmembrane transport
GO:0086010	membrane depolarization during action potential
GO:0086012	membrane depolarization during cardiac muscle cell action potential
GO:0086046	membrane depolarization involved in regulation of SA node cell action potential
GO:0086052	membrane repolarization during SA node cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901016	regulation of potassium ion transmembrane transporter activity
GO:1901379	regulation of potassium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005891	voltage-gated calcium channel complex
GO:0016020	membrane
GO:0030018	Z disc

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000015968

View Gene Order

ENSBTAG00000010026

Not yet available

Pathways

NETPATH

REACTOME

REACT_18339

Adrenaline,noradrenaline inhibits insulin secretion pathway

REACT_18325

Regulation of insulin secretion pathway

REACT_1505

Integration of energy metabolism pathway

REACT_18312

NCAM1 interactions pathway

REACT_18334

NCAM signaling for neurite out-growth pathway

REACT_111045

Developmental Biology pathway

REACT_18266

Axon guidance pathway

REACT_111217

Metabolism pathway

KEGG

hsa04912

GnRH signaling pathway pathway

hsa04010

MAPK signaling pathway pathway

hsa05010

Alzheimer's disease pathway

hsa04930

Type II diabetes mellitus pathway

hsa04020

Calcium signaling pathway pathway

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

hsa04270

Vascular smooth muscle contraction pathway

hsa05410

Hypertrophic cardiomyopathy (HCM) pathway

hsa04260

Cardiac muscle contraction pathway

hsa05414

Dilated cardiomyopathy pathway

hsa04973

Carbohydrate digestion and absorption pathway

INOH

INOH website

GPCR Dopamine D1like receptor signaling pathway pathway

PID NCI

Cross-References

SwissProt

TrEMBL

Q59GD8

UniProt Splice Variant

Entrez Gene

776

UniGene

Hs.476358

RefSeq

NM_000720 NM_001128839 NM_001128840

HUGO

HGNC:1391

OMIM

114206

CCDS

CCDS2872 CCDS46848 CCDS46849

HPRD

00247

IMGT

EMBL

AB209171 AC005905 AC012467 AC024149 AC132810

GenPept

BAD92408

RNA Seq Atlas

776