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FLASH GENE

Symbol

CACNA1C

contributors: mct/npt/pgu - updated : 20-11-2015

HGNC name	calcium channel, voltage-dependent, L type, alpha 1C subunit
HGNC id	1390

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Endocrine pancreas         Lymphoid/Immune spleen       highly Nervous brain         Reproductive female system uterus     highly   male system testis     highly   male system prostate       Skin/Tegument skin appendages hair follicle     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminus is important for the regulation of voltage-dependent inactivation (VDI)by CABP1
	four domains of homology
	a PDZ-binding motif at its cytosolic tail
	six alpha helical membrane spanning segments (24 transmembrane segments)
	distal C-terminus (approximately residues 1650-1950) with an important, predominantly inhibitory domain, specific for the heart channel, and containing sites for the SH2 and SH3 binding of Src kinase

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus cacna1c
	ortholog to murine Cacna1c

Homologene

FAMILY	calcium channel alpha-1 subunit family
	Enigma subfamily of the PDZ-LIM domain protein family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	colocalized with CABP1 in somatodendritic areas of neurons in the brain

basic FUNCTION	calcium voltage-gated channel (VDCC), L type
	playing an important role in excitation-contraction coupling in the heart
	in iron transport into cardiomyocytes under iron-overloaded conditions
	role of voltage-gated Ca2+ channels in nonexcitable cells during development (PMID;

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Ca2+

protein	CACNA1C targeting to BIN1 is functionally important to cardiac calcium signaling
	AKAP7 interacts with neuronal CACNA1C via their C terminus
	serine 1884 is essential for the regulation of CACNA1C by PRKD1
	interaction between LDB3 and CACNA1C, that facilitated PRKA-mediated phosphorylation of the CACNA1C at Ser1928
	ADRA1B contraction of vascular smooth muscle involves activation of PLD1, which controls a portion of the ADRA1B-induced CACNA1C channel activity
	expression of CACNA1C mRNA was rhythmic (peaking during the late night) and regulated by the circadian clock component NR1D1
	HAP1 is important for insulin secretion of pancreatic beta-cells via regulating the intracellular trafficking and plasma membrane localization of CACNA1C, providing new insight into the mechanisms that regulate insulin release from pancreatic beta cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TMTS , BRGS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in esophageal squamous cell carcinoma (ESCC)

Susceptibility

to bipolar disorder, and schizophrenia

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular     testosterone binding to CACNA1C, thereby supporting its beneficial role as an endogenous Ca2+ channel antagonist in the treatment of cardiovascular disease

ANIMAL & CELL MODELS

mice expressing CACNA1C channels with the distal C terminus deleted (DCT-/-) develop cardiac hypertrophy and die prematurely after E15