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FLASH GENE

Symbol

CACNA1G

contributors: mct/npt - updated : 08-12-2016

HGNC name	calcium channel, voltage-dependent, T type, alpha 1G subunit
HGNC id	1394

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHCA1 childhood-onset cerebellar atrophy 1 SCA42 spinocerebellar ataxia 42
Location	17q21.33      Physical location : 48.638.448 - 48.704.542
Synonym name	voltage-gated calcium channel subunit alpha Cav3.1
	voltage-dependent calcium channel alpha 1G subunit, isoform 11
Synonym symbol(s)	NBR13, Cav3.1, KIAA1123, MGC117234, Ca(V)T.1

DNA

TYPE	functioning gene
STRUCTURE	68.56 kb     38 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter region have been investigated classifying it as a TATA-less sequence containing several potential transcription factor-binding motifs
	two potential transcription start sites and four binding sites for the transcription factor Sp1

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018896 38 - 8254 NP_061496 262 2377 - 2006 16671074 NM_198376 35 - 7646 NP_938190 - 2171 - 2006 16671074 NM_198377 37 - 8231 NP_938191 - 2366 - 2006 16671074 NM_198378 35 - 7952 NP_938192 - 2273 - 2006 16671074 NM_198379 35 - 8025 NP_938193 - 2298 - 2006 16671074 NM_198380 36 - 8096 NP_938194 - 2321 - 2006 16671074 NM_198382 36 - 7916 NP_938196 - 2261 - 2006 16671074 NM_198383 36 - 8051 NP_938197 - 2306 - 2006 16671074 NM_198384 36 - 7985 NP_938198 - 2284 - 2006 16671074 NM_198385 37 - 8129 NP_938199 - 2332 - 2006 16671074 NM_198386 35 - 7931 NP_938200 - 2266 - 2006 16671074 NM_198387 34 - 7883 NP_938201 - 2250 - 2006 16671074 NM_198388 34 - 7862 NP_938202 - 2243 - 2006 16671074 NM_198396 36 - 8162 NP_938406 - 2343 - 2006 16671074 NM_001256325 36 - 8006 NP_001243254 - 2291 - 2006 16671074 NM_001256333 37 - 7748 NP_001243262 - 2205 - 2006 16671074 NM_001256334 36 - 7715 NP_001243263 - 2194 - 2006 16671074 NM_001256327 36 - 7964 NP_001243256 - 2277 - 2006 16671074 NM_001256324 36 - 8075 NP_001243253 - 2314 - 2006 16671074 NM_001256328 35 - 7910 NP_001243257 - 2259 - 2006 16671074 NM_001256360 35 - 7877 NP_001243289 - 2248 - 2006 16671074 NM_001256361 35 - 7871 NP_001243290 - 2246 - 2006 16671074 NM_001256359 36 - 7904 NP_001243288 - 2257 - 2006 16671074 NM_001256326 36 - 7994 NP_001243255 - 2287 - 2006 16671074 NM_001256330 35 - 7850 NP_001243259 - 2239 - 2006 16671074 NM_001256331 35 - 7829 NP_001243260 - 2232 - 2006 16671074 NM_001256329 35 - 7883 NP_001243258 - 2250 - 2006 16671074 NM_001256332 35 - 7814 NP_001243261 - 2227 - 2006 16671074

EXPRESSION

Type	restricted

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         Hearing/Equilibrium ear         Nervous brain       predominantly   brain hindbrain cerebellum   highly Homo sapiens Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth uterus myometrium highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

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 including several isoforms (CAV31C)

HOMOLOGY

Homologene

FAMILY

calcium channel alpha-1 subunit family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	calcium low activated (LVA) voltage-gated channel, T (fast inactivation, small conductance) type
	producing large and transient currents
	KCNC2, CACNA1G regulate thalamic relay neuron sensory transmission and each channel subtype controls a different stimulus-response curve property

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	inhibited by G protein beta2gamma2 subunit
	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)

SCA42 , CHCA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   aberrantly methylated and inactivated in colon and gastric carcinomas and leukemia

Susceptibility

to idiopathic generalized epilepsies

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS