KEGG   Homo sapiens (human): 774
Entry
774               CDS       T01001                                 
Symbol
CACNA1B, BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 B
  KO
K04849  voltage-dependent calcium channel N type alpha-1B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04930  Type II diabetes mellitus
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
hsa05207  Chemical carcinogenesis - receptor activation
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
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Drug target
Cilnidipine: D01173<JP>
Ziconotide (DG00832): D06363 D08686<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    774 (CACNA1B)
   04020 Calcium signaling pathway
    774 (CACNA1B)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    774 (CACNA1B)
   04725 Cholinergic synapse
    774 (CACNA1B)
   04728 Dopaminergic synapse
    774 (CACNA1B)
   04726 Serotonergic synapse
    774 (CACNA1B)
   04723 Retrograde endocannabinoid signaling
    774 (CACNA1B)
   04721 Synaptic vesicle cycle
    774 (CACNA1B)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    774 (CACNA1B)
  09164 Neurodegenerative disease
   05016 Huntington disease
    774 (CACNA1B)
   05020 Prion disease
    774 (CACNA1B)
   05022 Pathways of neurodegeneration - multiple diseases
    774 (CACNA1B)
  09165 Substance dependence
   05032 Morphine addiction
    774 (CACNA1B)
   05033 Nicotine addiction
    774 (CACNA1B)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    774 (CACNA1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    774 (CACNA1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   774 (CACNA1B)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel Phage_TAC_15
Other DBs
NCBI-GeneID: 774
NCBI-ProteinID: NP_000709
OMIM: 601012
HGNC: 1389
Ensembl: ENSG00000148408
UniProt: Q00975
Structure
Position
9:137877782..138124619
AA seq 2339 aa
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
NT seq 7020 nt   +upstreamnt  +downstreamnt
atggtccgcttcggggacgagctgggcggccgctatgggggccccggcggcggagagcgg
gcccggggcggcggggccggcggggcggggggcccgggtcccggggggctgcagcccggc
cagcgggtcctctacaagcaatcgatcgcgcagcgcgcgcggaccatggcgctgtacaac
cccatcccggtcaagcagaactgcttcaccgtcaaccgctcgctcttcgtcttcagcgag
gacaacgtcgtccgcaaatacgcgaagcgcatcaccgagtggcctccattcgagtatatg
atcctggccaccatcatcgccaactgcatcgtgctggccctggagcagcacctccctgat
ggggacaaaacgcccatgtccgagcggctggacgacacggagccctatttcatcgggatc
ttttgcttcgaggcagggatcaaaatcatcgctctgggctttgtcttccacaagggctct
tacctgcggaacggctggaacgtcatggacttcgtggtcgtcctcacagggatccttgcc
acggctggaactgacttcgacctgcgaacactgagggctgtgcgtgtgctgaggcccctg
aagctggtgtctgggattccaagtttgcaggtggtgctcaagtccatcatgaaggccatg
gttccactcctgcagattgggctgcttctcttctttgccatcctcatgtttgccatcatt
ggcctggagttctacatgggcaagttccacaaggcctgtttccccaacagcacagatgcg
gagcccgtgggtgacttcccctgtggcaaggaggccccagcccggctgtgcgagggcgac
actgagtgccgggagtactggccaggacccaactttggcatcaccaactttgacaatatc
ctgtttgccatcttgacggtgttccagtgcatcaccatggagggctggactgacatcctc
tataatacaaacgatgcggccggcaacacctggaactggctctacttcatccctctcatc
atcatcggctccttcttcatgctcaacctggtgctgggcgtgctctcgggggagtttgcc
aaggagcgagagagggtggagaaccgccgcgccttcctgaagctgcgccggcagcagcag
atcgagcgagagctcaacgggtacctggagtggatcttcaaggcggaggaagtcatgctg
gccgaggaggacaggaatgcagaggagaagtcccctttggacgtgctgaagagagcggcc
accaagaagagcagaaatgacctgatccacgcagaggagggagaggaccggtttgcagat
ctctgtgctgttggatcccccttcgcccgcgccagcctcaagagcgggaagacagagagc
tcgtcatacttccggaggaaggagaagatgttccggttttttatccggcgcatggtgaag
gctcagagcttctactgggtggtgctgtgcgtggtggccctgaacacactgtgtgtggcc
atggtgcattacaaccagccgcggcggcttaccacgaccctgtattttgcagagtttgtt
ttcctgggtctcttcctcacagagatgtccctgaagatgtatggcctggggcccagaagc
tacttccggtcctccttcaactgcttcgactttggggtcatcgtggggagcgtctttgaa
gtggtctgggcggccatcaagccgggaagctcctttgggatcagtgtgctgcgggccctc
cgcctgctgaggatcttcaaagtcacgaagtactggagctccctgcggaacctggtggtg
tccctgctgaactccatgaagtccatcatcagcctgctcttcttgctcttcctgttcatt
gtggtcttcgccctgctggggatgcagctgtttgggggacagttcaacttccaggatgag
actcccacaaccaacttcgacaccttccctgccgccatcctcactgtcttccagatcctg
acgggagaggactggaatgcagtgatgtatcacgggatcgaatcgcaaggcggcgtcagc
aaaggcatgttctcgtccttttacttcattgtcctgacactgttcggaaactacactctg
ctgaatgtctttctggccatcgctgtggacaacctggccaacgcccaagagctgaccaag
gatgaagaggagatggaagaagcagccaatcagaagcttgctctgcaaaaggccaaagaa
gtggctgaagtcagccccatgtctgccgcgaacatctccatcgccgccaggcagcagaac
tcggccaaggcgcgctcggtgtgggagcagcgggccagccagctacggctgcagaacctg
cgggccagctgcgaggcgctgtacagcgagatggaccccgaggagcggctgcgcttcgcc
actacgcgccacctgcggcccgacatgaagacgcacctggaccggccgctggtggtggag
ctgggccgcgacggcgcgcgggggcccgtgggaggcaaagcccgacctgaggctgcggag
gcccccgagggcgtcgaccctccgcgcaggcaccaccggcaccgcgacaaggacaagacc
cccgcggcgggggaccaggaccgagcagaggccccgaaggcggagagcggggagcccggt
gcccgggaggagcggccgcggccgcaccgcagccacagcaaggaggccgcggggcccccg
gaggcgcggagcgagcgcggccgaggcccaggccccgagggcggccggcggcaccaccgg
cgcggctccccggaggaggcggccgagcgggagccccgacgccaccgcgcgcaccggcac
caggatccgagcaaggagtgcgccggcgccaagggcgagcggcgcgcgcggcaccgcggc
ggcccccgagcggggccccgggaggcggagagcggggaggagccggcgcggcggcaccgg
gcccggcacaaggcgcagcctgctcacgaggctgtggagaaggagaccacggagaaggag
gccacggagaaggaggctgagatagtggaagccgacaaggaaaaggagctccggaaccac
cagccccgggagccacactgtgacctggagaccagtgggactgtgactgtgggtcccatg
cacacactgcccagcacctgtctccagaaggtggaggaacagccagaggatgcagacaat
cagcggaacgtcactcgcatgggcagtcagcccccagacccgaacactattgtacatatc
ccagtgatgctgacgggccctcttggggaagccacggtcgttcccagtggtaacgtggac
ctggaaagccaagcagaggggaagaaggaggtggaagcggatgacgtgatgaggagcggc
ccccggcctatcgtcccatacagctccatgttctgtttaagccccaccaacctgctccgc
cgcttctgccactacatcgtgaccatgaggtacttcgaggtggtcattctcgtggtcatc
gccttgagcagcatcgccctggctgctgaggacccagtgcgcacagactcgcccaggaac
aacgctctgaaatacctggattacattttcactggtgtctttacctttgagatggtgata
aagatgatcgacttgggactgctgcttcaccctggagcctatttccgggacttgtggaac
attctggacttcattgtggtcagtggcgccctggtggcgtttgctttctcaggatccaaa
gggaaagacatcaataccatcaagtctctgagagtccttcgtgtcctgcggcccctcaag
accatcaaacggctgcccaagctcaaggctgtgtttgactgtgtggtgaactccctgaag
aatgtcctcaacatcttgattgtctacatgctcttcatgttcatatttgccgtcattgcg
gtgcagctcttcaaagggaagtttttctactgcacagatgaatccaaggagctggagagg
gactgcaggggtcagtatttggattatgagaaggaggaagtggaagctcagcccaggcag
tggaagaaatacgactttcactacgacaatgtgctctgggctctgctgacgctgttcaca
gtgtccacgggagaaggctggcccatggtgctgaaacactccgtggatgccacctatgag
gagcagggtccaagccctgggtaccgcatggagctgtccatcttctacgtggtctacttt
gtggtctttcccttcttcttcgtcaacatctttgtggctttgatcatcatcaccttccag
gagcagggggacaaggtgatgtctgaatgcagcctggagaagaacgagagggcttgcatt
gacttcgccatcagcgccaaacccctgacacggtacatgccccaaaaccggcagtcgttc
cagtataagacgtggacatttgtggtctccccgccctttgaatacttcatcatggccatg
atagccctcaacactgtggtgctgatgatgaagttctatgatgcaccctatgagtacgag
ctgatgctgaaatgcctgaacatcgtgttcacatccatgttctccatggaatgcgtgctg
aagatcatcgcctttggggtgctgaactatttcagagatgcctggaatgtctttgacttt
gtcactgtgttgggaagtattactgatattttagtaacagagattgcggaaacgaacaat
ttcatcaacctcagcttcctccgcctctttcgagctgcgcggctgatcaagctgctccgc
cagggctacaccatccgcatcctgctgtggacctttgtccagtccttcaaggccctgccc
tacgtgtgtctgctcattgccatgctgttcttcatctacgccatcatcggcatgcaggtg
tttgggaatattgccctggatgatgacaccagcatcaaccgccacaacaacttccggacg
tttttgcaagccctgatgctgctgttcaggagcgccacgggggaggcctggcacgagatc
atgctgtcctgcctgagcaaccaggcctgtgatgagcaggccaatgccaccgagtgtgga
agtgactttgcctacttctacttcgtctccttcatcttcctgtgctcctttctgatgttg
aacctctttgtggctgtgatcatggacaattttgagtacctcacgcgggactcttccatc
ctaggtcctcaccacttggatgagttcatccgggtctgggctgaatacgacccggctgcg
tgtgggcgcatcagttacaatgacatgtttgagatgctgaaacacatgtccccgcctctg
gggctggggaagaaatgccctgctcgagttgcttacaagcgcctggttcgcatgaacatg
cccatctccaacgaggacatgactgttcacttcacgtccacgctgatggccctcatccgg
acggcactggagatcaagctggccccagctgggacaaagcagcatcagtgtgacgcggag
ttgaggaaggagatttccgttgtgtgggccaatctgccccagaagactttggacttgctg
gtaccaccccataagcctgatgagatgacagtggggaaggtttatgcagctctgatgata
ttcgacttctacaagcagaacaaaaccaccagagaccagatgcagcaggctcctggaggc
ctctcccagatgggtcctgtgtccctgttccaccctctgaaggccaccctggagcagaca
cagccggctgtgctccgaggagcccgggttttccttcgacagaagagttccacctccctc
agcaatggcggggccatacaaaaccaagagagtggcatcaaagagtctgtctcctggggc
actcaaaggacccaggatgcaccccatgaggccaggccacccctggagcgtggccactcc
acagagatccctgtggggcggtcaggagcactggctgtggacgttcagatgcagagcata
acccggaggggccctgatggggagccccagcctgggctggagagccagggtcgagcggcc
tccatgccccgccttgcggccgagactcagcccgtcacagatgccagccccatgaagcgc
tccatctccacgctggcccagcggccccgtgggactcatctttgcagcaccaccccggac
cgcccaccccctagccaggcgtcgtcgcaccaccaccaccaccgctgccaccgccgcagg
gacaggaagcagaggtccctggagaaggggcccagcctgtctgccgatatggatggcgca
ccaagcagtgctgtggggccggggctgcccccgggagaggggcctacaggctgccggcgg
gaacgagagcgccggcaggagcggggccggtcccaggagcggaggcagccctcatcctcc
tcctcggagaagcagcgcttctactcctgcgaccgctttgggggccgtgagcccccgaag
cccaagccctccctcagcagccacccaacgtcgccaacagctggccaggagccgggaccc
cacccacagggcagtggttccgtgaatgggagccccttgctgtcaacatctggtgctagc
acccccggccgcggtgggcggaggcagctcccccagacgcccctgactccccgccccagc
atcacctacaagacggccaactcctcacccatccacttcgccggggctcagaccagcctc
cctgccttctccccaggccggctcagccgtgggctttccgaacacaacgccctgctgcag
agagaccccctcagccagcccctggcccctggctctcgaattggctctgacccttacctg
gggcagcgtctggacagtgaggcctctgtccacgccctgcctgaggacactctcactttc
gaggaggctgtggccaccaactcgggccgctcctccaggacttcctacgtgtcctccctg
acctcccagtctcaccctctccgccgcgtgcccaacggttaccactgcaccctgggactc
agctcgggtggccgagcacggcacagctaccaccaccctgaccaagaccactggtgctag

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