KEGG   Homo sapiens (human): 8911
Entry
8911              CDS       T01001                                 
Symbol
CACNA1I, Cav3.3, NEDSIS, ca(v)3.3
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 I
  KO
K04856  voltage-dependent calcium channel T type alpha-1I
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04713  Circadian entrainment
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
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
Disease
H02858  Neurodevelopmental disorder with speech impairment and with or without seizures
Drug target
Apinocaltamide: D12910
Bepridil (DG00333): D00631<JP> D07520
Ethosuximide: D00539<JP/US>
Flunarizine (DG01006): D01303 D07971
Lomerizine hydrochloride: D02633<JP>
Mesuximide: D00404<US>
Mibefradil (DG00328): D05024 D08217
Penfluridol: D02630
Suvecaltamide (DG03155): D12061 D12062
Ulixacaltamide (DG03299): D12819 D12820
Valproic acid (DG00849): D00304<US> D00399<US> D00710<JP/US> D08667
Zonisamide: D00538<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    8911 (CACNA1I)
   04020 Calcium signaling pathway
    8911 (CACNA1I)
 09150 Organismal Systems
  09152 Endocrine system
   04929 GnRH secretion
    8911 (CACNA1I)
   04925 Aldosterone synthesis and secretion
    8911 (CACNA1I)
   04927 Cortisol synthesis and secretion
    8911 (CACNA1I)
  09159 Environmental adaptation
   04713 Circadian entrainment
    8911 (CACNA1I)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    8911 (CACNA1I)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8911 (CACNA1I)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   8911 (CACNA1I)
SSDB
Motif
Pfam: Ion_trans PKD_channel
Other DBs
NCBI-GeneID: 8911
NCBI-ProteinID: NP_066919
OMIM: 608230
HGNC: 1396
Ensembl: ENSG00000100346
UniProt: Q9P0X4
Structure
Position
22:39570753..39689735
AA seq 2223 aa
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFF
CLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDD
FIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTV
RVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGIIGVQLWAGLLRNRCF
LEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDV
YDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWV
EIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYL
SSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPH
AKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELCPQHSPLDATPHTLVQ
PIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDG
ASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIE
HHEQPEELTNILEICNVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIV
GQADGGLSVLRTFRLLRVLKLVRFMPALRRQLVVLMKTMDNVATFCMLLMLFIFIFSILG
MHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSPWASL
YFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGD
PKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRM
SYDQRSLSSSRSSYYGPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEV
AADEGPPRAAPLHTPHAHHIHHGPHLAHRHRHHRRTLSLDNRDSVDLAELVPAVGAHPRA
AWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYTLCFRVRKMIDVYKPD
WCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTE
RIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLA
SAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIF
GILGVQLFKGKFYHCLGVDTRNITNRSDCMAANYRWVHHKYNFDNLGQALMSLFVLASKD
GWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQH
QEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLN
VVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVL
LSVMGITLEEIEINAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVG
NLGLLFMLLFFIYAALGVELFGKLVCNDENPCEGMSRHATFENFGMAFLTLFQVSTGDNW
NGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVVVAVLMKHLDDSNKEA
QEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQEN
LWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNS
DRSSSILLGDDLSLEDPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPEN
FLCEMEEIPFNPVRSWLKHDSSQAPPSPFSPDASSPLLPMPAEFFHPAVSASQKGPEKGT
GTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSAGSLQTTLEDSLTLSD
SPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHH
DSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLA
APGRPHAAALAHGLARSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASK
RKR
NT seq 6672 nt   +upstreamnt  +downstreamnt
atggctgagagcgcctccccgccctcctcatctgcagcagccccagccgctgagccagga
gtcaccacggagcagcccggaccccggagccccccatcctccccgccaggcctggaggag
cctctggatggagctgatcctcatgtcccacacccagacctggcgcctattgccttcttc
tgcctgcgacagaccaccagcccccggaactggtgcatcaagatggtgtgcaacccgtgg
tttgaatgtgtcagcatgctggtgatcctgctgaactgcgtgacacttggcatgtaccag
ccgtgcgacgacatggactgcctgtccgaccgctgcaagatcctgcaggtctttgatgac
ttcatctttatcttctttgccatggagatggtgctcaagatggtggccctggggattttt
ggcaagaagtgctacctcggggacacatggaaccgcctggatttcttcatcgtcatggca
gggatggtcgagtactccctggaccttcagaacatcaacctgtcagccatccgcaccgtg
cgcgtcctgaggcccctcaaagccatcaaccgcgtgcccagtatgcggatcctggtgaac
ctgctcctggacacactgcccatgctggggaatgtcctgctgctctgcttctttgtcttc
ttcatctttggcatcataggtgtgcagctctgggcgggcctgctgcgtaaccgctgcttc
ctggaggagaacttcaccatacaaggggatgtggccttgcccccatactaccagccggag
gaggatgatgagatgcccttcatctgctccctgtcgggcgacaatgggataatgggctgc
catgagatccccccgctcaaggagcagggccgtgagtgctgcctgtccaaggacgacgtc
tacgactttggggcggggcgccaggacctcaatgccagcggcctctgtgtcaactggaac
cgttactacaatgtgtgccgcacgggcagcgccaacccccacaagggtgccatcaacttt
gacaacatcggttatgcttggattgtcatcttccaggtgatcactctggaaggctgggtg
gagatcatgtactacgtgatggatgctcactccttctacaacttcatctacttcatcctg
cttatcatagtgggctccttcttcatgatcaacctgtgcctcgttgtcatagcgacccag
ttctcggagaccaagcaacgggagcaccggctgatgctggagcagcggcagcgctacctg
tcctccagcacggtggccagctacgccgagcctggcgactgctacgaggagatcttccag
tatgtctgccacatcctgcgcaaggccaagcgccgcgccctgggcctctaccaggccctg
cagagccggcgccaggccctgggcccggaggccccggcccccgccaaacctgggccccac
gccaaggagccccggcactaccatgggaagactaagggtcagggagatgaagggagacat
ctcggaagccggcattgccagactttgcatgggcctgcctcccctggaaatgatcactcg
ggaagagagctgtgcccgcaacatagccccctggatgcgacgccccacaccctggtgcag
cccatccccgccacgctggcttccgatcccgccagctgcccttgctgccagcatgaggac
ggccggcggccctcgggcctgggcagcaccgactcgggccaggagggctcgggctccggg
agctccgctggtggcgaggacgaggcggatggggacggggcccggagcagcgaggacgga
gcctcctcagaactggggaaggaggaggaggaggaggagcaggcggatggggcggtctgg
ctgtgcggggatgtgtggcgggagacgcgagccaagctgcgcggcatcgtggacagcaag
tacttcaaccggggcatcatgatggccatcctggtcaacaccgtcagcatgggcatcgag
caccacgagcagccggaggagctgaccaacatcctggagatctgcaatgtggtcttcacc
agcatgtttgccctggagatgatcctgaagctggctgcatttgggctcttcgactacctg
cgtaacccctacaacatcttcgacagcatcattgtcatcatcagcatctgggagattgtg
gggcaggcggacggtgggctgtcggtgctgcggaccttccggctgctgcgcgtgctgaaa
ctggtgcgcttcatgcctgccctgcggcgccagctcgtggtgctcatgaagaccatggac
aacgtggccaccttctgcatgctgctcatgctcttcatcttcatcttcagcatccttggg
atgcatatttttggctgcaagttcagcctccgcacggacactggagacacggtgcccgac
aggaagaacttcgactccctgctgtgggccatcgtcactgtgttccagatcctcacccag
gaggactggaacgtcgttctctacaatggcatggcctccacttctccctgggcctccctc
tactttgtcgccctcatgaccttcggcaactatgtgctcttcaacctgctggtggccatc
ctggtggagggcttccaggcggagggtgacgccaatcgctcctactcggacgaggaccag
agctcatccaacatagaagagtttgataagctccaggaaggcctggacagcagcggagat
cccaagctctgcccaatccccatgacccccaatgggcacctggaccccagtctcccactg
ggtgggcacctaggtcctgctggggctgcgggacctgccccccgactctcactgcagccg
gaccccatgctggtggccctgggctcccgaaagagcagtgtcatgtctctagggaggatg
agctatgaccagcgctccctgtccagctcccggagctcctactacgggccatggggccgc
agcgcggcctgggccagccgtcgctccagctggaacagcctcaagcacaagccgccgtcg
gcggagcatgagtccctgctctctgcggagcgcggcggcggcgcccgggtctgcgaggtt
gccgcggacgaggggccgccgcgggccgcacccctgcacaccccacacgcccaccacatt
catcacgggccccatctggcgcaccgccaccgccaccaccgccggacgctgtccctcgac
aacagggactcggtggacctggccgagctggtgcccgcggtgggcgcccacccccgggcc
gcctggagggcggcaggcccggcccccgggcatgaggactgcaatggcaggatgcccagc
atcgccaaagacgtcttcaccaagatgggcgaccgcggggatcgcggggaggatgaggag
gaaatcgactacaccctgtgcttccgcgtccgcaagatgatcgacgtctataagcccgac
tggtgcgaggtccgcgaagactggtctgtctacctcttctctcccgagaacaggttccgg
gtcctgtgtcagaccattattgcccacaaactcttcgactacgtcgtcctggccttcatc
tttctcaactgcatcaccatcgccctggagcggcctcagatcgaggccggcagcaccgaa
cgcatctttctcaccgtgtccaactacatcttcacggccatcttcgtgggcgagatgaca
ttgaaggtagtctcgctgggcctgtacttcggcgagcaggcgtacctacgcagcagctgg
aacgtgctggatggctttcttgtcttcgtgtccatcatcgacatcgtggtgtccctggcc
tcagccgggggagccaagatcttgggggtcctccgagtcttgcggctcctgcgcacccta
cgccccctgcgtgtcatcagccgggcgccgggcctgaagctggtggtggagacactcatc
tcctccctcaagcccatcggcaacatcgtgctcatctgctgtgccttcttcatcatcttt
ggcatcctgggagtgcagctcttcaagggcaagttctaccactgtctgggcgtggacacc
cgcaacatcaccaaccgctcggactgcatggccgccaactaccgctgggtccatcacaaa
tacaacttcgacaacctgggccaggctctgatgtccctctttgtcctggcatccaaggat
ggttgggtgaacatcatgtacaatggactggatgctgttgctgtggaccagcagcctgtg
accaaccacaacccctggatgctgctgtacttcatctccttcctgctcatcgtcagcttc
tttgtgctcaacatgtttgtgggtgtcgtggtggagaacttccacaagtgccggcagcac
caggaggctgaagaggcacggcggcgtgaggagaagcggctgcggcgcctggagaagaag
cgccggaaggcccagcggctgccctactatgccacctattgtcacacccggctgctcatc
cactccatgtgcaccagccactacctggacatcttcatcaccttcatcatctgcctcaac
gtggtcaccatgtccctggagcactacaatcagcccacgtccctggagacagccctcaag
tactgcaactatatgttcaccactgtctttgtgctggaggctgtgctgaagctggtggca
tttggtctgaggcgcttcttcaaggaccgatggaaccagctggacctggccattgtgcta
ctgtcagtcatgggcatcaccctggaggagatcgagatcaatgcggccctgcccatcaat
cccaccatcatccgcatcatgagggttctgcgcattgcccgagtgctgaagctgttgaag
atggccacaggaatgcgggccctgctggacacggtggtgcaagctttgccccaggtgggc
aacctgggcctcctcttcatgctgctcttcttcatctatgctgctctcggggtggagctc
tttgggaagctggtctgcaacgacgagaacccgtgcgagggcatgagccggcatgccacc
ttcgagaacttcggcatggccttcctcacactcttccaggtctccacgggtgacaactgg
aacgggatcatgaaggacacgctgcgggactgcacccacgacgagcgcagctgcctgagc
agcctgcagtttgtgtcgccgctgtacttcgtgagcttcgtgctcaccgcgcagttcgtg
ctcatcaacgtggtggtggctgtgctcatgaagcacctggacgacagcaacaaggaggcg
caggaggacgccgagatggatgccgagctcgagctggagatggcccatggcctgggccct
ggcccgaggctgcctaccggctccccgggcgcccctggccgagggccgggaggggcgggc
ggcgggggcgacaccgagggcggcttgtgccggcgctgctactcgcctgcccaggagaac
ctgtggctggacagcgtctctttaatcatcaaggactccttggagggggagctgaccatc
atcgacaacctgtcgggctccatcttccaccactactcctcgcctgccggctgcaagaag
tgtcaccacgacaagcaagaggtgcagctggctgagacggaggccttctccctgaactca
gacaggtcctcgtccatcctgctgggtgacgacctgagtctcgaggaccccacagcctgc
ccacctggccgcaaagacagcaagggtgagctggacccacctgagcccatgcgtgtggga
gacctgggcgaatgcttcttccccttgtcctctacggccgtctcgccggatccagagaac
ttcctgtgtgagatggaggagatcccattcaaccctgtccggtcctggctgaaacatgac
agcagtcaagcacccccaagtcccttctccccggatgcctccagccctctcctgcccatg
ccagccgagttcttccaccctgcagtgtctgccagccagaaaggcccagaaaagggcact
ggcactggaaccctccccaagattgcgctgcagggctcctgggcatctctgcggtcacca
agggtcaactgtaccctcctccggcaggccaccgggagcgacacgtcgctggacgccagc
cccagcagctccgcgggcagcctgcagaccacgctcgaggacagcctgaccctgagcgac
agcccccggcgtgccctggggccgcccgcgcctgctccaggaccccgggccggcctgtcc
cccgccgctcgccgccgcctgagcctgcgcggccggggcctcttcagcctgcgggggctg
cgggcgcatcagcgcagccacagcagcgggggctccaccagcccgggctgcacccaccac
gactccatggacccctcggacgaggagggccgcggtggcgcgggcggcgggggcgcgggc
agcgagcactcggagaccctcagcagcctctcgctcacctccctcttctgcccgccgccc
ccgccgccagcccccggcctcacgcccgccaggaagttcagcagcaccagcagcctggcc
gcccccggccgcccccacgccgccgccctggcccacggcctggcccggagcccctcgtgg
gccgcggaccgcagcaaggacccccccggccgggcaccgctgcccatgggcctgggcccc
ttggcgcccccgccgcaaccgctccccggagagctggagccgggagacgccgccagcaag
aggaagagatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (68)   
   RefGene (62)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (20)   
   RefSeq(nuc) (6)   
   GenBank (7)   
   EMBL (7)   
3D Structure (4)   
   PDB (4)   
Protein domain (2)   
   Pfam (2)   
All databases (104)   

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