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FLASH GENE
Symbol CACNA1I contributors: - updated : 21-08-2007
HGNC name calcium channel, voltage-dependent, alpha 1I subunit
HGNC id 1396
Location 22q13.1      Physical location : 39.966.757 - 40.085.738
Synonym name Voltage- gated calcium channel subunit alpha Cav3.3
Synonym symbol(s) Cav3.3, KIAA1120
DNA
TYPE functioning gene
STRUCTURE 119.00 kb     37 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
APOBEC3G 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G ARP10 22q13.1 ARP10 protein COX5BL7 22pter-p13 cytochrome c oxidase subunit Vb-like 7 CBX7 22q13.1 chromobox homolog 7 LOC391332 22 similar to hepatitis C virus core-binding protein 6; cervical cancer oncogene 3 FLJ23865 22q13.1 hypothetical protein FLJ23865 PDGFB 22q13.1 platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) RPL3 22q13.1 ribosomal protein L3 SYNGR1 22q13.1 synaptogyrin 1 MAP3K7IP1 22q13.1 mitogen-activated protein kinase kinase kinase 7 interacting protein 1 LOC388902 22 LOC388902 MGAT3 22q13.1 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase FLJ20232 22q13 hypothetical protein FLJ20232 ATF4 22q13.1 activating transcription factor 4 (tax-responsive enhancer element B67) MGC52010 22q13.2 hypothetical protein MGC52010 CACNA1I 22q13.1 calcium channel, voltage-dependent, alpha 1I subunit FLJ25421 22q13.2 hypothetical protein FLJ25421 GRAP2 22q13.1 GRB2-related adaptor protein 2 LOC113828 22q13.2 hypothetical protein BC011204 LOC388903 22 LOC388903
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 10007 245 2223 - Murbartián
- - 9902 - 2188 - Murbartián
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid    
Nervousbrain   predominantly
 nerve    
 nervecranial nerve   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 28 potential phosphorylation sites
  • each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4)
  • 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 type
  • involved in pacing neuronal firing and producing network oscillations such as those that occurs during sleeep and epilepsy (potential drug target)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • activated by small membrane depolarizations and can generate burst firing and pacemaker activity
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+ binding
    protein binding to both CATSPER1 and CATSPER2 (modulate the function of the CACNA1I channel, which might be important in the regulation of sperm function)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS