KEGG   ORTHOLOGY: K04857
Entry
K04857                      KO                                     
Symbol
CACNA1S, CAV1.1
Name
voltage-dependent calcium channel L type alpha-1S
Pathway
map04010  MAPK signaling pathway
map04020  Calcium signaling pathway
map04022  cGMP-PKG signaling pathway
map04024  cAMP signaling pathway
map04260  Cardiac muscle contraction
map04261  Adrenergic signaling in cardiomyocytes
map04270  Vascular smooth muscle contraction
map04723  Retrograde endocannabinoid signaling
map04725  Cholinergic synapse
map04726  Serotonergic synapse
map04727  GABAergic synapse
map04911  Insulin secretion
map04912  GnRH signaling pathway
map04921  Oxytocin signaling pathway
map04924  Renin secretion
map04925  Aldosterone synthesis and secretion
map04927  Cortisol synthesis and secretion
map04929  GnRH secretion
map04934  Cushing syndrome
map04935  Growth hormone synthesis, secretion and action
map05010  Alzheimer disease
map05020  Prion disease
map05022  Pathways of neurodegeneration - multiple diseases
map05207  Chemical carcinogenesis - receptor activation
map05410  Hypertrophic cardiomyopathy
map05412  Arrhythmogenic right ventricular cardiomyopathy
map05414  Dilated cardiomyopathy
Disease
H00215  Periodic paralysis
H00746  Hypokalemic periodic paralysis (HypoPP)
Brite
KEGG Orthology (KO) [BR:ko00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04020 Calcium signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04024 cAMP signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04022 cGMP-PKG signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04929 GnRH secretion
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04912 GnRH signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04921 Oxytocin signaling pathway
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04935 Growth hormone synthesis, secretion and action
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04924 Renin secretion
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04925 Aldosterone synthesis and secretion
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04927 Cortisol synthesis and secretion
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
  09153 Circulatory system
   04260 Cardiac muscle contraction
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04261 Adrenergic signaling in cardiomyocytes
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04270 Vascular smooth muscle contraction
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
  09156 Nervous system
   04727 GABAergic synapse
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04725 Cholinergic synapse
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04726 Serotonergic synapse
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   04723 Retrograde endocannabinoid signaling
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   05020 Prion disease
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   05022 Pathways of neurodegeneration - multiple diseases
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   05412 Arrhythmogenic right ventricular cardiomyopathy
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
   05414 Dilated cardiomyopathy
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels
    K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
Ion channels [BR:ko04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   K04857  CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
Other DBs
GO: 0005245
TC: 1.A.1.11.2
Genes
HSA: 779(CACNA1S)
PTR: 469635(CACNA1S)
PPS: 100982136(CACNA1S)
GGO: 101150507(CACNA1S)
PON: 100433948(CACNA1S)
NLE: 100589614(CACNA1S)
MCC: 708706(CACNA1S)
MCF: 102131553(CACNA1S)
CSAB: 103230339(CACNA1S)
CATY: 105575216(CACNA1S)
PANU: 101025213(CACNA1S)
TGE: 112625837(CACNA1S)
RRO: 104661868(CACNA1S)
RBB: 108545075(CACNA1S)
TFN: 117076828(CACNA1S)
PTEH: 111550963(CACNA1S)
CJC: 100390112(CACNA1S)
SBQ: 101042219(CACNA1S)
CSYR: 103269543(CACNA1S)
MMUR: 105859992(CACNA1S)
LCAT: 123626819(CACNA1S)
OGA: 100962683(CACNA1S)
MMU: 12292(Cacna1s)
MCAL: 110296075(Cacna1s)
MPAH: 110322010(Cacna1s)
RNO: 682930(Cacna1s)
MCOC: 116069682(Cacna1s)
MUN: 110548425(Cacna1s)
CGE: 100765508(Cacna1s)
MAUA: 101835763(Cacna1s)
PLEU: 114683299(Cacna1s)
MORG: 121444275(Cacna1s)
AAMP: 119827234(Cacna1s)
NGI: 103731814(Cacna1s)
HGL: 101726232(Cacna1s)
CPOC: 100734741(Cacna1s)
CCAN: 109696593
DORD: 105986412(Cacna1s)
DSP: 122126705(Cacna1s)
NCAR: 124961645
OCU: 100009585(CACNA1S)
OPI: 101529015(CACNA1S)
TUP: 102481015(CACNA1S)
CFA: 490244(CACNA1S)
CLUD: 112667091(CACNA1S)
VVP: 112934538(CACNA1S)
VLG: 121493117(CACNA1S)
AML: 100472835(CACNA1S)
UMR: 103657769(CACNA1S)
UAH: 113242563(CACNA1S)
UAR: 123785763(CACNA1S)
ELK: 111150995
LLV: 125086002
MPUF: 101688476(CACNA1S)
ORO: 101385947(CACNA1S)
EJU: 114221937(CACNA1S)
ZCA: 113932406(CACNA1S)
MLX: 118014221(CACNA1S)
FCA: 654399(CACNA1S)
PYU: 121021720(CACNA1S)
PBG: 122476562(CACNA1S)
PTG: 102949808(CACNA1S)
PPAD: 109256096(CACNA1S)
AJU: 106974264(CACNA1S)
HHV: 120228884(CACNA1S)
BTA: 100337204(CACNA1S)
BOM: 102272241(CACNA1S)
BBUB: 102397191(CACNA1S)
CHX: 102176151(CACNA1S)
OAS: 101108767(CACNA1S)
ODA: 120880100(CACNA1S)
CCAD: 122452261(CACNA1S)
SSC: 100622149(CACNA1S)
CFR: 102507309(CACNA1S)
CBAI: 105070011(CACNA1S)
CDK: 105090835(CACNA1S)
VPC: 102528399(CACNA1S)
BACU: 103014409(CACNA1S)
LVE: 103090575(CACNA1S)
OOR: 101275416(CACNA1S)
DLE: 111168340(CACNA1S)
PCAD: 102987099(CACNA1S)
PSIU: 116739924(CACNA1S)
ECB: 100034092(CACNA1S)
EPZ: 103565109(CACNA1S)
EAI: 106823553(CACNA1S)
MYB: 102243265(CACNA1S)
MYD: 102760374(CACNA1S)
MMYO: 118678862(CACNA1S)
MNA: 107536018(CACNA1S)
PKL: 118721896(CACNA1S)
HAI: 109380439(CACNA1S)
DRO: 112318756(CACNA1S)
SHON: 119003902(CACNA1S)
AJM: 119060725(CACNA1S)
PDIC: 114512262(CACNA1S)
PHAS: 123832334(CACNA1S)
MMF: 118640543(CACNA1S)
RFQ: 117018578(CACNA1S)
PALE: 102896136(CACNA1S)
PGIG: 120619319(CACNA1S)
PVP: 105296936(CACNA1S)
RAY: 107513628(CACNA1S)
MJV: 108396001(CACNA1S)
TOD: 119234060(CACNA1S)
SARA: 101543389(CACNA1S)
LAV: 100673089(CACNA1S)
TMU: 101343945
DNM: 101431251(CACNA1S)
MDO: 100013684(CACNA1S)
GAS: 123245622(CACNA1S)
SHR: 100917433(CACNA1S)
PCW: 110219570(CACNA1S)
OAA: 100093447(CACNA1S)
GGA: 395985(CATSPER2)
PCOC: 116238729(CACNA1S)
MGP: 100547445(CACNA1S)
CJO: 107324611(CACNA1S)
NMEL: 110388201(CACNA1S)
APLA: 101801311(CACNA1S)
ACYG: 106046137(CACNA1S)
AFUL: 116498683(CACNA1S)
TGU: 100220193(CACNA1S)
LSR: 110469152(CACNA1S)
SCAN: 103822432(CACNA1S)
PMOA: 120503413(CACNA1S)
OTC: 121345503(CACNA1S)
PRUF: 121365422(CACNA1S)
GFR: 102037957(CACNA1S)
FAB: 101821759(CACNA1S)
PHI: 102111358(CACNA1S)
PMAJ: 107214754(CACNA1S)
CCAE: 111939717(CACNA1S)
CCW: 104692446(CACNA1S)
CBRC: 103619471(CACNA1S)
ETL: 114064775(CACNA1S)
ZAB: 102072903(CACNA1S)
FPG: 101914764(CACNA1S)
FCH: 102058184(CACNA1S)
CLV: 102092229(CACNA1S)
EGZ: 104122032(CACNA1S)
NNI: 104011070(CACNA1S)
PLET: 104621942(CACNA1S)
PCRI: 104028054(CACNA1S)
ACUN: 113488965(CACNA1S)
TALA: 104358095(CACNA1S)
PADL: 103913818(CACNA1S)
ACHC: 115335203(CACNA1S)
HALD: 104323775(CACNA1S)
CCRI: 104157381(CACNA1S)
CSTI: 104561676(CACNA1S)
CMAC: 104478656(CACNA1S)
FGA: 104071045(CACNA1S)
GSTE: 104264447(CACNA1S)
LDI: 104344820(CACNA1S)
OHA: 104337830(CACNA1S)
AAM: 106500235(CACNA1S)
AROW: 112961842
NPD: 112959119(CACNA1S)
DNE: 112983855(CACNA1S)
ASN: 102377229(CACNA1S)
AMJ: 102563699(CACNA1S)
CPOO: 109317585(CACNA1S)
PSS: 102453880
CMY: 114020321(CACNA1S)
CPIC: 101932307
CABI: 116837308(CACNA1S)
MRV: 120403655(CACNA1S)
ACS: 100551605(cacna1s)
PVT: 110085291(CACNA1S)
SUND: 121928807(CACNA1S)
PBI: 103055781(CACNA1S)
PMUR: 107289042(CACNA1S)
TSR: 106549619(CACNA1S)
PGUT: 117664028(CACNA1S)
VKO: 123024268(CACNA1S)
PMUA: 114599194(CACNA1S)
ZVI: 118088554(CACNA1S)
GJA: 107110972(CACNA1S)
STOW: 125433366(CACNA1S)
XLA: 100381134(cacna1s.S) 108707491
XTR: 100485035(cacna1s)
NPR: 108804869(CACNA1S)
RTEM: 120927212(CACNA1S)
BBUF: 120995137(CACNA1S)
BGAR: 122933053(CACNA1S)
DRE: 405791(cacna1sb) 570683(cacna1sa)
CCAR: 109068176
PPRM: 120483504(cacna1sb) 120486533(cacna1sa)
MAMB: 125263059(cacna1sa) 125279856(cacna1sb)
IPU: 108254927(cacna1sa) 108266034(cacna1sb)
PHYP: 113526802(cacna1s)
SMEO: 124400141(cacna1sb) 124402415(cacna1sa)
TFD: 113648899(cacna1sa) 113656001(cacna1sb)
EEE: 113581084 113586976(cacna1s)
LCO: 104932670(cacna1s)
NCC: 104956859(cacna1s)
PLEP: 121946489
ECRA: 117942791 117947748(cacna1sb)
GAT: 120829078(cacna1sb) 120835575
MZE: 101479917(cacna1s)
ONL: 100704349(cacna1s)
OAU: 116325819
XMA: 102237099(cacna1s)
XCO: 114148648(cacna1s)
XHE: 116727080(cacna1s)
PRET: 103467335(cacna1s)
PFOR: 103141148(cacna1s)
PLAI: 106935710 106950813(cacna1s)
PMEI: 106920834(cacna1s)
GAF: 122836924
CVG: 107086768(cacna1s)
CTUL: 119782227
GMU: 124869521
NFU: 107390862(cacna1s)
KMR: 108244587
ALIM: 106525038(cacna1s)
NWH: 119417628
AOCE: 111564440(cacna1s) 111586752
MCEP: 125006895
POV: 109630550(cacna1s)
HHIP: 117764596
HSP: 118111041
BPEC: 110164965(cacna1s)
MALB: 109968827(cacna1s)
BSPL: 114858880
OTW: 112221688
SFM: 108931184 108933625(cacna1s)
AANG: 118208634 118210591(cacna1sa)
LOC: 102684448(cacna1s)
LCM: 102356715(CACNA1S)
CMK: 103190861
RTP: 109922317
PCLA: 123767022
PPOI: 119107961
BGT: 106059778
GAE: 121384134
HRF: 124117395
CRG: 105322251
PMAX: 117321880
MMER: 123546888
ATEN: 116298203
 » show all
Reference
  Authors
Pirone A, Schredelseker J, Tuluc P, Gravino E, Fortunato G, Flucher BE, Carsana A, Salvatore F, Grabner M
  Title
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.
  Journal
Am J Physiol Cell Physiol 299:C1345-54 (2010)
DOI:10.1152/ajpcell.00008.2010
  Sequence
[hsa:779]
Reference
PMID:8004673
  Authors
Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al.
  Title
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
  Journal
Cell 77:863-8 (1994)
DOI:10.1016/0092-8674(94)90135-X
  Sequence
[hsa:779]
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