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FLASH GENE

Symbol

CACNA1H

contributors: mct - updated : 08-12-2016

HGNC name	calcium channel, voltage-dependent, alpha 1H subunit
HGNC id	1395

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ECA6 epilepsy, childhood absence, 6
Location	16p13.3      Physical location : 1.203.240 - 1.271.771
Synonym name	voltage-gated calcium channel alpha subunit Cav3.2
	voltage-gated calcium channel alpha subunit CavT.2
	low-voltage-activated calcium channel alpha1 3.2 subunit
	calcium channel, voltage-dependent, T type, alpha 1Hb subunit
Synonym symbol(s)	CACNA1HB, FLJ90484

DNA

TYPE	functioning gene
STRUCTURE	68.00 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	alternative splice isoform of CACNA1G

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed CACNA1H V2 - - 8079 - 2347 - Kang CACNA1H V1 - - 8097 259.2 2353 - Kang

EXPRESSION

Type

widely

constitutive of

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         Digestive liver           mouth tongue     highly Endocrine pancreas       highly Nervous brain diencephalon amygdala     nervous brain basal nuclei putamen     Reproductive male system prostate     highly Skin/Tegument skin appendages hair       Urinary kidney

tissue

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

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	four domains of homology, each with six alpha helical membrane spanning segments (24 transmembrane segments)
	a transmembrane domain highly conserved

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus cacna1h
	ortholog to murine Cacna1h

Homologene

FAMILY

calcium channel alpha-1 subunit family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

calcium low voltage-activated (LVA) channel (VDCC, T (fast inactivation, small conductance) type essential for excitation-contraction coupling and pacemaker potentials in cardiac muscle cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	substrate for CaMKII

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	CA2+

protein

CACNA1G, CACNA1H are substrates for EHD3-dependent protein trafficking in heart, implicating EHD3 as a key player in the regulation of atrial myocyte excitability and cardiac conduction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ECA6

Susceptibility

to childhood absence epilepsy (see ECA4)

Variant & Polymorphism SNP	increasing the risk of childhood absence epilepsy

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   enhancement of CACNA1H currents in afferent neurons is mediated by deubiquitination of the channels by the deubiquitinase USP5, and disrupting USP5/CACNA1H interactions protected from inflammatory and neuropathic pain

ANIMAL & CELL MODELS