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FLASH GENE
Symbol CACNA1G contributors: mct/npt - updated : 08-12-2015
HGNC name calcium channel, voltage-dependent, T type, alpha 1G subunit
HGNC id 1394
Corresponding disease
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
    Physical map
    SLC35B1 17q21.3-q22 solute carrier family 35, member B1 LOC81558 17q21.33 C/EBP-induced protein MYST2 17q21.32 MYST histone acetyltransferase 2 TAC4 17 tachykinin 4 (hemokinin) LOC124865 17q21.33 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like DLX4 17q21-q22 distal-less homeobox 4 DLX3 17q21.3-q22 distal-less homeo box 3 ITGA3 17q22-q23 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) PDK2 17q21.3 pyruvate dehydrogenase kinase, isoenzyme 2 LOC201191 17q21.33 hypothetical protein LOC201191 PPP1R9B 17q21-q22 protein phosphatase 1, regulatory subunit 9B, spinophilin SGCA 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) HILS1 17q21.33 spermatid-specific linker histone H1-like protein COL1A1 17q21.31-q22.15 collagen, type I, alpha 1 FLJ33318 17q21.33 hypothetical protein FLJ33318 XYLT2 17q21.3-17q22 xylosyltransferase II MRPL27 17q21.3-q22 mitochondrial ribosomal protein L27 FLJ31364 PRO1855 17q21.33 hypothetical protein PRO1855 FLJ20920 17q21.33 hypothetical protein FLJ20920 MRPS21P9 17q21 mitochondrial ribosomal protein S21 pseudogene 9 CHAD 17q21.33 chondroadherin FLJ11164 17q21.33 hypothetical protein FLJ11164 DKFZp434N1415 17q21.33 Mycbp-associated protein EPN3 17q24.1 epsin 3 FLJ21347 17q21.33 hypothetical protein FLJ21347 LOC253962 17q21.33 hypothetical protein LOC253962 CACNA1G 17q22 calcium channel, voltage-dependent, alpha 1G subunit ABCC3 17q21.3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MGC15396 17q21.33 hypothetical protein MGC15396 LUC7A 17q21 cisplatin resistance-associated overexpressed protein OA48-18 17q21.33 acid-inducible phosphoprotein FLJ20694 17q21.33 hypothetical protein FLJ20694 LOC390801 17 similar to S100 calcium-binding protein A10; S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide WFIKKNRP 17q21.33 WFIKKN-related protein LOC390802 17 similar to ribosomal protein L5; 60S ribosomal protein L5 TOB1 17q21 transducer of ERBB2, 1 SPAG9 17q21.31 sperm associated antigen 9 NME1 17q21.31 non-metastatic cells 1, protein (NM23A) expressed in NME2 17q21.31 non-metastatic cells 2, protein (NM23B) expressed in MBTD1 17q24.1 mbt domain containing 1 CGI-48 17q21.33 CGI-48 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 8254 262 2377 - 2006 16671074
    35 - 7646 - 2171 - 2006 16671074
    37 - 8231 - 2366 - 2006 16671074
    35 - 7952 - 2273 - 2006 16671074
    35 - 8025 - 2298 - 2006 16671074
    36 - 8096 - 2321 - 2006 16671074
    36 - 7916 - 2261 - 2006 16671074
    36 - 8051 - 2306 - 2006 16671074
    36 - 7985 - 2284 - 2006 16671074
    37 - 8129 - 2332 - 2006 16671074
    35 - 7931 - 2266 - 2006 16671074
    34 - 7883 - 2250 - 2006 16671074
    34 - 7862 - 2243 - 2006 16671074
    36 - 8162 - 2343 - 2006 16671074
    36 - 8006 - 2291 - 2006 16671074
    37 - 7748 - 2205 - 2006 16671074
    36 - 7715 - 2194 - 2006 16671074
    36 - 7964 - 2277 - 2006 16671074
    36 - 8075 - 2314 - 2006 16671074
    35 - 7910 - 2259 - 2006 16671074
    35 - 7877 - 2248 - 2006 16671074
    35 - 7871 - 2246 - 2006 16671074
    36 - 7904 - 2257 - 2006 16671074
    36 - 7994 - 2287 - 2006 16671074
    35 - 7850 - 2239 - 2006 16671074
    35 - 7829 - 2232 - 2006 16671074
    35 - 7883 - 2250 - 2006 16671074
    35 - 7814 - 2227 - 2006 16671074
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumear    
    Nervousbrain   predominantly
     brainhindbraincerebellum highly Homo sapiens
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothuterusmyometriumhighly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje 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
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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