KEGG   Homo sapiens (human): 774Help
Entry
774               CDS       T01001                                 

Gene name
CACNA1B, BIII, CACNL1A5, CACNN, Cav2.2, DYT23
Definition
(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
hsa05032  Morphine addiction
hsa05033  Nicotine addiction
Disease
H00831  Primary dystonia
Drug target
Cilnidipine: D01173
Ziconotide (DG00832): D06363 D08686
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
  09164 Substance dependence
   05032 Morphine addiction
    774 (CACNA1B)
   05033 Nicotine addiction
    774 (CACNA1B)
  09166 Endocrine and metabolic diseases
   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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans GPHH Ca_chan_IQ PKD_channel
Motif
Other DBs
NCBI-GeneID: 774
NCBI-ProteinID: NP_000709
OMIM: 601012
HGNC: 1389
Ensembl: ENSG00000148408
Vega: OTTHUMG00000021002
Pharos: Q00975(Tclin)
UniProt: Q00975
Structure
PDB: 

Position
9q34.3
AA seq 2339 aa AA seqDB search
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 NT seq  +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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