KEGG   Homo sapiens (human): 777
Entry
777               CDS       T01001                                 
Symbol
CACNA1E, BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 E
  KO
K04852  voltage-dependent calcium channel R type alpha-1E
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04930  Type II diabetes mellitus
Network
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N00967  VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    777 (CACNA1E)
   04020 Calcium signaling pathway
    777 (CACNA1E)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    777 (CACNA1E)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    777 (CACNA1E)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   777 (CACNA1E)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 777
NCBI-ProteinID: NP_001192222
OMIM: 601013
HGNC: 1392
Ensembl: ENSG00000198216
UniProt: Q15878 Q59FG1
Structure
Position
1:181317699..181808084
AA seq 2313 aa
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
NT seq 6942 nt   +upstreamnt  +downstreamnt
atggctcgcttcggggaggcggtggtcgccaggccagggtccggcgatggagactcggac
cagagcaggaaccggcaaggaacccccgtgccggcctcggggcaggcggccgcctacaag
cagacgaaagcacagagggcgcggactatggctttgtacaaccccattcccgtccggcag
aactgtttcaccgtcaacagatccctgttcatcttcggagaagataacattgtcaggaaa
tatgccaagaagctcatcgattggccgccatttgagtacatgatcctggccaccatcatt
gccaactgcatcgtcctggccctggagcagcatcttcctgaggatgacaagacccccatg
tcccgaagactggagaagacagaaccttatttcattgggatcttttgctttgaagctggg
atcaaaattgtggccctggggttcatcttccataagggctcttacctccgcaatggctgg
aatgtcatggacttcatcgtggtcctcagtggcatcctggccactgcaggaacccacttc
aatactcacgtggacctgaggaccctccgggctgtgcgtgtcctgcggcctttgaagctc
gtgtcagggatacctagcctgcagattgtgttgaagtccatcatgaaggccatggtacct
cttctgcagattggccttctgctcttctttgccatcctgatgtttgctatcattggtttg
gagttctacagtggcaagttacatcgagcatgcttcatgaacaattcaggtattctagaa
ggatttgacccccctcacccatgtggtgtgcagggctgcccagctggttatgaatgcaag
gactggatcggccccaatgatgggatcacccagtttgataacatcctttttgctgtgctg
actgtcttccagtgcatcaccatggaagggtggaccactgtgctgtacaataccaatgat
gccttaggagccacctggaattggctgtacttcatccccctcatcatcattggatccttc
tttgttctcaacctagtcctgggagtgctttccggggaatttgccaaagagagagagaga
gtggagaaccgaagggctttcatgaagctgcggcgccagcagcagattgagcgtgagctg
aatggctaccgtgcctggatagacaaagcagaggaagtcatgctcgctgaagaaaataaa
aatgctggaacatccgccttagaagtgcttcgaagggcaaccatcaagaggagccggaca
gaggccatgactcgagactccagtgatgagcactgtgttgatatctcctctgtgggcaca
cctctggcccgagccagtatcaaaagtgcaaaggtagacggggtctcttatttccggcac
aaggaaaggcttctgcgcatctccattcgccacatggttaaatcccaggtgttttactgg
attgtgctgagccttgtggcactcaacactgcctgtgtggccattgtccatcacaaccag
ccccagtggctcacccacctcctctactatgcagaatttctgtttctgggactcttcctc
ttggagatgtccctgaagatgtatggcatggggcctcgcctttattttcactcttcattc
aactgctttgattttggggtcacagtgggcagtatctttgaagtggtctgggcaatcttc
agacctggtacgtcttttggaatcagtgtcttgcgagccctccggcttctaagaatattt
aaaataaccaagtattgggcttccctacggaatttggtggtctccttgatgagctcaatg
aagtctatcatcagtttgcttttcctcctcttcctcttcatcgttgtctttgctctccta
ggaatgcagttatttggaggcaggtttaactttaatgatgggactccttcggcaaatttt
gataccttccctgcagccatcatgactgtgttccagatcctgacgggtgaggactggaat
gaggtgatgtacaatgggatccgctcccagggtggggtcagctcaggcatgtggtctgcc
atctacttcattgtgctcaccttgtttggcaactacacgctactgaatgtgttcttggct
atcgctgtggataatctcgccaacgcccaggaactgaccaaggatgaacaggaggaagaa
gaggccttcaaccagaaacatgcactgcagaaggccaaggaggtcagcccgatgtctgca
cccaacatgccttcgatcgaaagagacagaaggagaagacaccacatgtcgatgtgggag
ccacgcagcagccacctgagggagcggaggcgccggcaccacatgtccgtgtgggagcag
cgtaccagccagctgaggaagcacatgcagatgtccagccaggaggccctcaacagagag
gaggcgccgaccatgaacccgctcaaccccctcaacccgctcagctccctcaacccgctc
aatgcccaccccagcctttatcggcgacccagggccattgagggcctggccctgggcctg
gccctggagaagttcgaggaggagcgcatcagccgtggggggtccctcaagggggatgga
ggggaccgatccagtgccctggacaaccagaggacccctttgtccctgggccagcgggag
ccaccatggctggccaggccctgtcatggaaactgtgacccgactcagcaggaggcaggg
ggaggagaggctgtggtgacctttgaggaccgggccaggcacaggcagagccaacggcgc
agccggcatcgccgcgtcaggacagaaggcaaggagtcctcttcagcctcccggagcagg
tctgccagccaggaacgcagtctggatgaagccatgcccactgaaggggagaaggaccat
gagctcaggggcaaccatggtgccaaggagccaacgatccaagaagagagagcccaggat
ttaaggaggaccaacagtctgatggtgtccagaggctccgggctggcaggaggccttgat
gaggctgacacccccctagtcctgccccatcctgagctggaagtggggaagcacgtggtg
ctgacggagcaggagccagaaggcagcagtgagcaggccctgctggggaatgtgcagcta
gacatgggccgggtcatcagccagagcgagcctgacctctcctgcatcacggccaacacg
gacaaggccaccaccgagagcaccagcgtcaccgtcgccatccccgacgtggaccccttg
gtggactcaaccgtggtgcacattagcaacaagacggatggggaagccagtcccttgaag
gaggcagagatcagagaggatgaggaggaggtggagaagaagaagcagaagaaggagaag
cgtgagacaggcaaagccatggtgccccacagctcaatgttcatcttcagcaccaccaac
ccgatccggagggcctgccactacatcgtgaacctgcgctactttgagatgtgcatcctc
ctggtgattgcagccagcagcatcgccctggcggcagaggaccccgtcctgaccaactcg
gagcgcaacaaagtcctgaggtattttgactatgtgttcacgggcgtgttcacctttgag
atggttataaagatgatagaccaaggcttgatcctgcaggatgggtcctacttccgagac
ttgtggaacatcctggactttgtggtggtcgttggcgcattggtggcctttgctctggcg
aacgctttgggaaccaacaaaggacgggacatcaagaccatcaagtctctgcgggtgctc
cgagttctaaggccactgaaaaccatcaagcgcttgcccaagctcaaggccgtcttcgac
tgcgtagtgacctccttgaagaatgtcttcaacatactcattgtgtacaagctcttcatg
ttcatctttgctgtcatcgcagttcagctcttcaagggaaagttcttttattgcacggac
agttccaaggacacagagaaggagtgcataggcaactatgtagatcatgagaaaaacaag
atggaggtgaagggccgggaatggaagcgccatgaattccactacgacaacattatctgg
gccctgctgaccctcttcaccgtctccacaggggaaggatggcctcaagttctgcagcac
tctgtagatgtgacagaggaagaccgaggcccaagccgcagcaaccgcatggagatgtct
atcttttatgtagtctactttgtggtcttccccttcttctttgtcaatatctttgtggct
ctcatcatcatcaccttccaggagcaaggggataagatgatggaggagtgcagcctggag
aagaatgagagggcgtgcatcgacttcgccatcagcgccaaacctctcacccgctacatg
ccgcagaacagacacaccttccagtaccgcgtgtggcactttgtggtgtctccgtccttt
gagtacaccattatggccatgatcgccttgaatactgttgtgctgatgatgaagtattat
tctgctccctgtacctatgagctggccctgaagtacctgaatatcgccttcaccatggtg
ttttccctggaatgtgtcctgaaggtcatcgcttttggctttttgaactatttccgagac
acctggaatatctttgacttcatcaccgtgattggcagtatcacagaaattatcctgaca
gacagcaagctggtgaacaccagtggcttcaatatgagctttctgaagctcttccgagct
gcccgcctcataaagctcctgcgtcagggctataccatacgcattttgctgtggaccttt
gtgcagtcctttaaggccctcccttatgtctgccttttaattgccatgcttttcttcatt
tatgccatcattgggatgcaggtatttggaaacataaaattagacgaggagagtcacatc
aaccggcacaacaacttccggagtttctttgggtccctaatgctactcttcaggagtgcc
acaggtgaggcctggcaggagattatgctgtcatgccttggggagaagggctgtgagcct
gacaccaccgcaccatcagggcagaacgagaacgaacgctgcggcaccgatctggcctac
gtgtactttgtctccttcatcttcttctgctccttcttgatgctcaacctgtttgtggcc
gtcatcatggacaactttgagtacctgactcgggactcctccatcctggggcctcaccac
ttggacgagtttgtccgcgtctgggcagaatatgaccgagcagcatgtggccgcatccat
tacactgagatgtatgaaatgctgactctcatgtcacctccgctaggcctcggcaagaga
tgtccctccaaagtggcatataagaggttggtcctgatgaacatgccagtagctgaggac
atgacggtccacttcacctccacacttatggctctgatccggacagctctggacattaaa
attgccaaaggtggtgcagacaggcagcagctagactcagagctacaaaaggagacccta
gccatctggcctcacctatcccagaagatgctggatctgcttgtgcccatgcccaaagcc
tctgacctgactgtgggcaaaatctatgcagcaatgatgatcatggactactataagcag
agtaaggtgaagaagcagaggcagcagctggaggaacagaaaaatgcccccatgttccag
cgcatggagccttcatctctgcctcaggagatcattgctaatgccaaagccctgccttac
ctccagcaggaccccgtttcaggcctgagtggccggagtggatacccttcgatgagtcca
ctctctccccaggatatattccagttggcttgtatggaccccgccgatgacggacagttc
caagaacggcagtctctggagccagaggttagtgaattaaaaagcgtgcagccctctaac
catggcatctaccttccttcggacacccaggagcatgcgggatctgggagggcatcttct
atgccacgtctgactgtggatccccaggtggtgacagaccctagctccatgagacgttca
ttttccactattcgggataagcgttcaaattcctcgtggttggaggaattctccatggag
cgaagcagtgaaaatacctacaagtcccgtcgccggagttaccactcctccttgcggctg
tcagcccaccgcctgaactctgattcaggccacaagtctgacactcaccgctcagggggc
agggagcggggacgatcaaaagagcgaaagcatcttctctctcctgatgtctcccgctgc
aattcagaagagcgagggacccaggctgactgggagtccccagagcgccgtcaatccagg
tcacccagtgagggcaggtcacagacgcccaacagacagggcacaggttccctaagtgag
agctccatcccctctgtctctgacaccagcaccccaagaagaagtcgtcggcagctccca
cccgtcccgccaaagccccggcccctcctttcctacagctccctgattcgacacgcgggc
agcatctctccacctgctgatggaagcgaggagggctccccgctgacctcccaagctctg
gagagcaacaatgcttgcctgaccgagtcttccaactctccgcacccccagcagagccaa
catgcctccccacagcgctacatctccgagccctacttggccctgcacgaagactcccac
gcctcagactgtggtgaggaggagacgctcactttcgaagcagccgtggctactagcctg
ggccgttccaacaccatcggctcagccccacccctgcggcatagctggcagatgcccaac
gggcactatcggcggcggaggcgcggggggcctgggccaggcatgatgtgtggggctgtc
aacaacctgctaagtgacacggaagaagatgacaaatgctag

  All links  
Disease (2)   
   OMIM (2)   
Gene (24)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (28)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (57)   
   RefSeq(nuc) (25)   
   GenBank (16)   
   EMBL (16)   
3D Structure (5)   
   PDB (5)   
Protein domain (4)   
   Pfam (4)   
All databases (120)   

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