CACNA1E
entrez
777
canonical
uniprot
Q15878
canonical
ensembl
ENSG00000198216
resolver
ensp
ENSP00000356542
resolver
ensp
ENSP00000356545
resolver
ensp
ENSP00000481619
resolver
genesymbol
CACNA1E
resolver
genesymbol_syn
CACH6
resolver
genesymbol_syn
CACNL1A6
resolver
hgnc
HGNC:1392
resolver
uniprot
B1AM12
resolver
uniprot
B1AM13
resolver
uniprot
B1AM14
resolver
uniprot
Q14580
resolver
uniprot
Q14581
resolver
uniprot
Q59FG1
resolver
uniprot_entry
CAC1E_HUMAN
resolver
uniprot_entry
Q59FG1_HUMAN
resolver
uniprot_sec
B1AM12
resolver
uniprot_sec
B1AM13
resolver
uniprot_sec
B1AM14
resolver
uniprot_sec
Q14580
resolver
uniprot_sec
Q14581
resolver
amino_acid_sequence
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRTEAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGLALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEPDTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRCNSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 69 (DEE69) [MIM:618285]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE69 is an autosomal dominant form characterized by refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication. {ECO:0000269|PubMed:30343943}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing. {ECO:0000269|PubMed:30343943, ECO:0000269|PubMed:7536609}.; FUNCTION: [Isoform 3]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. {ECO:0000269|PubMed:8071363}.
uniprot
proteins
mass_dalton
261731
uniprot
proteins
protein_family
CACNA1E subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
15258581
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18400181
uniprot
proteins
pubmed
30343943
uniprot
proteins
pubmed
7536609
uniprot
proteins
pubmed
8071363
uniprot
proteins
sequence_length
2313
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 90..108; /note="Helical; Name=S1 of repeat I"; TRANSMEM 128..146; /note="Helical; Name=S2 of repeat I"; TRANSMEM 159..173; /note="Helical; Name=S3 of repeat I"; TRANSMEM 186..205; /note="Helical; Name=S4 of repeat I"; TRANSMEM 224..244; /note="Helical; Name=S5 of repeat I"; TRANSMEM 327..350; /note="Helical; Name=S6 of repeat I"; TRANSMEM 477..496; /note="Helical; Name=S1 of repeat II"; TRANSMEM 510..529; /note="Helical; Name=S2 of repeat II"; TRANSMEM 539..557; /note="Helical; Name=S3 of repeat II"; TRANSMEM 568..586; /note="Helical; Name=S4 of repeat II"; TRANSMEM 606..625; /note="Helical; Name=S5 of repeat II"; TRANSMEM 679..703; /note="Helical; Name=S6 of repeat II"; TRANSMEM 1149..1165; /note="Helical; Name=S1 of repeat III"; TRANSMEM 1190..1209; /note="Helical; Name=S2 of repeat III"; TRANSMEM 1218..1240; /note="Helical; Name=S3 of repeat III"; TRANSMEM 1255..1272; /note="Helical; Name=S4 of repeat III"; TRANSMEM 1292..1311; /note="Helical; Name=S5 of repeat III"; TRANSMEM 1399..1422; /note="Helical; Name=S6 of repeat III"; TRANSMEM 1480..1498; /note="Helical; Name=S1 of repeat IV"; TRANSMEM 1514..1533; /note="Helical; Name=S2 of repeat IV"; TRANSMEM 1542..1560; /note="Helical; Name=S3 of repeat IV"; TRANSMEM 1572..1590; /note="Helical; Name=S4 of repeat IV"; TRANSMEM 1610..1629; /note="Helical; Name=S5 of repeat IV"; TRANSMEM 1699..1724; /note="Helical; Name=S6 of repeat IV
uniprot
proteins