KEGG   Homo sapiens (human): 779Help
Entry
779               CDS       T01001                                 

Gene name
CACNA1S, CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 S
  KO
K04857  voltage-dependent calcium channel L type alpha-1S
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing's syndrome
hsa05010  Alzheimer's disease
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00215  Periodic paralysis
H00746  Hypokalemic periodic paralysis (HypoPP)
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Manidipine (DG00324): D01553 D08155
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Perhexiline (DG00334): D05442 D08340
Pinaverium: D07094
Propiverine (DG00479): D01007 D08441
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    779 (CACNA1S)
   04020 Calcium signaling pathway
    779 (CACNA1S)
   04024 cAMP signaling pathway
    779 (CACNA1S)
   04022 cGMP - PKG signaling pathway
    779 (CACNA1S)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    779 (CACNA1S)
   04912 GnRH signaling pathway
    779 (CACNA1S)
   04921 Oxytocin signaling pathway
    779 (CACNA1S)
   04924 Renin secretion
    779 (CACNA1S)
   04925 Aldosterone synthesis and secretion
    779 (CACNA1S)
   04927 Cortisol synthesis and secretion
    779 (CACNA1S)
  Circulatory system
   04260 Cardiac muscle contraction
    779 (CACNA1S)
   04261 Adrenergic signaling in cardiomyocytes
    779 (CACNA1S)
   04270 Vascular smooth muscle contraction
    779 (CACNA1S)
  Nervous system
   04727 GABAergic synapse
    779 (CACNA1S)
   04725 Cholinergic synapse
    779 (CACNA1S)
   04726 Serotonergic synapse
    779 (CACNA1S)
   04723 Retrograde endocannabinoid signaling
    779 (CACNA1S)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    779 (CACNA1S)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    779 (CACNA1S)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    779 (CACNA1S)
   05414 Dilated cardiomyopathy (DCM)
    779 (CACNA1S)
  Endocrine and metabolic diseases
   04934 Cushing's syndrome
    779 (CACNA1S)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   779 (CACNA1S)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans GPHH Ca_chan_IQ PKD_channel CAC1F_C
Motif
Other DBs
NCBI-GeneID: 779
NCBI-ProteinID: NP_000060
OMIM: 114208
HGNC: 1397
Ensembl: ENSG00000081248
Vega: OTTHUMG00000035784
Pharos: Q13698(Tchem)
UniProt: Q13698
Structure
PDB: 

Jmol
Position
1q32.1
AA seq 1873 aa AA seqDB search
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL
NT seq 5622 nt NT seq  +upstreamnt  +downstreamnt
atggagccatcctcaccccaggatgaaggcctgaggaagaaacagcccaagaagccagtt
cctgagattctgccaaggccaccccgggccttgttctgcctgaccctggagaaccccctg
aggaaggcctgcatcagcattgtagaatggaagcccttcgagacgatcatcttgctcacc
atctttgccaattgtgtggccctggccgtgtacctgcccatgccggaagatgacaacaac
tctctgaacctcggcctggagaagctggagtatttcttcctcattgtcttctcgattgaa
gccgccatgaagatcattgcctacggcttcttattccaccaggacgcttacctgcgcagt
ggctggaatgtgctggacttcaccattgtcttcctgggggtcttcaccgtgattctggaa
caggttaacgtcatccaaagccacacagccccaatgagcagcaaaggagccggcttggat
gtcaaggccctcagagccttccgagtgctcagacccctccggctggtgtcgggggtgcct
agcctgcaggtggtcctgaactccatcttcaaggccatgctccccctctttcacatcgcc
ctgctggtcctctttatggtcatcatctatgccatcatcgggctggagctcttcaagggc
aagatgcacaagacctgctacttcattggtacagatatcgtggccacggtggagaatgaa
gagccatcgccctgcgccaggacgggctcagggcgccggtgcaccatcaatggcagtgag
tgccggggcggctggccagggcccaaccatggcatcacccacttcgacaacttcggcttc
tccatgctcaccgtgtaccagtgcattaccatggagggatggactgacgtcctttactgg
gtcaatgatgccatcgggaatgagtggccctggatctattttgtcaccctcattttgctg
ggatccttcttcatcctcaacctggtgctgggtgtcctgagtggggaattcaccaaggag
cgggagaaggccaagtccaggggaaccttccagaagctccgggagaagcagcaactagat
gaggaccttcggggctacatgagctggatcacgcagggcgaggtcatggatgttgaggac
ttcagagaaggaaaactgtctttggatgaaggtggctctgacacagagagcctgtatgaa
attgcaggcttgaacaaaatcatccagttcatccgacattggaggcagtggaaccgcatc
tttcgctggaagtgccatgacatcgtgaagtccaaggtcttctattggctggtgattctc
atcgttgccctcaacaccctgtctatcgcctcagagcaccacaaccagcctctctggctg
acccgtttgcaagacattgccaaccgggtgctgctgtccctcttcaccactgagatgctg
atgaagatgtacgggctgggcctgcgccagtacttcatgtctatcttcaaccgcttcgac
tgcttcgtggtgtgtagcggtatcctggagatcctgctggtggagtcgggtgccatgaca
cccctgggcatctccgtgctccgctgcatccgcctcctgaggatcttcaagatcaccaaa
tattggacgtcgctgagcaacctggtggcatccctgctcaactccatccgctccatcgcc
tccctgctgctgctgctcttcctcttcatcgtcatcttcgccctcctgggcatgcagctc
tttggggggaggtatgactttgaagacacagaagtacggcgcagcaactttgacaacttt
ccccaagccctcatcagcgtcttccaggtactgacaggggaagactggacctcaatgatg
tacaatgggatcatggcctacggcgggccgtcctaccctggcatgcttgtgtgcatttac
ttcatcatccttttcgtctgtggcaactacatcctgctcaatgtcttcctggccattgcc
gtggacaacctggccgaggcggagagcctgacttctgcccagaaggccaaggctgaggag
aaaaaacgcaggaagatgtccaagggtctcccagacaagtcagaagaggagaagtcaacg
atggccaagaagctggagcagaaacccaagggtgagggcatccccaccactgccaagctg
aaaatcgatgagtttgaatctaatgtcaatgaggtgaaggatccctacccctcagccgac
ttcccaggggatgacgaggaagatgagcctgagatcccgctgagcccccgaccacgtccc
ctggctgagctgcagctgaaagagaaggccgtgcccattccagaagccagctccttcttc
atcttcagccccaccaataagatccgtgtcctgtgtcaccgcatcgtcaatgccacctgg
tttaccaacttcatcctgctcttcatcctgctcagcagcgctgcactggctgcggaagac
cccatccgggctgattccatgagaaatcagatccttaaacactttgacatcgggttcacc
tctgtcttcactgtggagattgtcctcaagatgacgacctacggagccttcctgcacaag
ggttccttctgccgcaattacttcaacatgctggacctgctggtggtggccgtgtccctc
atctccatgggacttgagtccagtgccatctccgtggtgaagatcctgagggtgctgagg
gtgctccgaccactcagagccatcaacagagccaaggggttgaagcacgtggtgcagtgc
atgttcgtggccatcagcaccatcgggaacatcgtgctggtcactaccctcctacagttc
atgtttgcctgcatcggcgtccagctcttcaaggggaagttcttcaggtgcaccgacttg
tccaagatgacagaggaggagtgcaggggctactactacgtgtacaaggacggggacccc
atgcagatagagctgcgtcaccgcgagtgggtacacagcgacttccacttcgacaatgtg
ctctcagccatgatgtccctcttcacggtctccaccttcgagggatggcctcagctgctg
tacaaggccatagactccaatgcggaggacgtgggtcccatctacaacaaccgtgtggag
atggccatcttcttcatcatctacatcatcctcattgccttcttcatgatgaacatcttt
gtgggcttcgtcattgtcaccttccaggagcagggagagactgagtacaagaactgtgag
ctggacaagaaccagcgccaatgtgtacagtatgccctgaaggcccgcccactgaggtgc
tacattcccaaaaacccataccagtaccaggtgtggtacattgtcacctcctcctacttt
gaatacctgatgtttgccctcatcatgctcaacaccatctgcctcggcatgcagcactac
aaccagtcggagcagatgaaccacatctcagacatcctcaatgtggccttcactatcatc
ttcaccctggagatgatcctcaagctcatggccttcaaggccaggggctactttggagac
ccctggaatgtgtttgacttcctgattgtcattggcagcatcattgatgtcatcctcagt
gagatcgacactttcctggcctccagcgggggactgtattgcctgggtggaggctgcggg
aacgttgacccagatgagagtgcccgcatctccagcgccttcttccgcctgttccgtgtc
atgaggctgatcaagctgctgagccgggcagaaggagtgcgaaccctcctgtggacgttc
atcaagtccttccaggccctaccctacgtggctctgctcatcgtcatgctcttcttcatc
tacgctgtcatcggcatgcagatgtttgggaagatcgccttggtggatgggacccaaata
aaccggaacaacaacttccagaccttcccacaagctgtgctactgctcttcaggtgtgca
acaggtgaggcctggcaggagatcctactggcctgcagctatgggaagctgtgtgaccca
gagtcggactatgccccaggggaggagtacacatgtggcaccaactttgcatactactac
ttcatcagcttctacatgctctgtgccttcctggtcatcaacctctttgtggctgtcatc
atggacaattttgactacctcacccgggactggtccatcctgggccctcatcacctggat
gagttcaaggccatctgggcagagtatgacccagaggctaaggggagaatcaaacacctg
gacgtggtgaccctgctgagaaggattcagccccctctgggctttgggaagttctgccca
catcgggtagcttgtaagcggctggtgggcatgaacatgcccctgaacagcgacggcaca
gtcaccttcaatgccacactctttgccctggtccgcacggcactcaagatcaagacggaa
ggtaactttgagcaggccaacgaggagctgagggccatcatcaagaagatctggaagaga
accagcatgaagctcttggaccaggtcatccctccaataggagatgatgaggtgacagtg
gggaagttctacgccacattcctcatccaggagcacttccggaagttcatgaaacgccaa
gaggagtattatggctatcggcccaagaaggacattgtacagatccaggcagggctgcgg
accattgaggaagaggcagcccccgagatctgtcgcacggtctcaggagacctggctgct
gaggaggagctggagagagccatggtggaggctgcgatggaggagggaatattccggagg
actggaggcctgtttggccaggtggacaacttcctggaaaggaccaactccctgcccccc
gtcatggccaatcagagacccctccagtttgctgagatagagatggaagagatggagtca
cctgtcttcttggaggacttcccacaagatccacgcaccaaccccctggctcgtgccaat
accaacaatgccaacgccaatgtcgcctatggcaacagcaaccatagcaacagccatgtg
ttttccagtgtccactatgaaagggagttcccagaagagacagagacgcctgctaccaga
ggacgagcccttggccaaccctgcagggtcctgggaccccacagcaaaccctgtgtggag
atgctgaagggactgctgacccagagggcaatgcccagaggccaggcacctcctgccccc
tgccagtgccccagggtggagtcctccatgcctgaggacagaaagagctccacaccaggg
tctcttcatgaggagacaccccacagcaggagcaccagggagaatacttccaggtgctca
gcaccagctacagccctgctgatccaaaaggctctggttcgagggggcctgggcaccttg
gcagctgatgcaaacttcatcatggcaacaggccaggccctggcagatgcctgccaaatg
gaaccagaggaagtggagatcatggcaacagagctactgaaaggacgagaggccccagag
ggcatggccagctccctgggatgcctgaacctcgggtcctccctgggcagcctcgaccaa
caccagggctcccaggagacccttattcctccaaggctgtga

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