KEGG ORTHOLOGY: K04857

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

H01810

Congenital myopathy

H02646

Malignant hyperthermia

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)

HMH:	116457338(CACNA1S)

MCC:	708706(CACNA1S)

MCF:	102131553(CACNA1S)

MTHB:

126939641

MNI:	105484707(CACNA1S)

CSAB:

103230339(CACNA1S)

CATY:

105575216(CACNA1S)

PANU:

101025213(CACNA1S)

TGE:	112625837(CACNA1S)

MLEU:

105547155(CACNA1S)

RRO:	104661868(CACNA1S)

RBB:	108545075(CACNA1S)

TFN:	117076828(CACNA1S)

PTEH:

111550963(CACNA1S)

CANG:

105504320(CACNA1S)

CJC:	100390112(CACNA1S)

SBQ:	101042219(CACNA1S)

CIMI:

108283204(CACNA1S)

CSYR:

103269543(CACNA1S)

MMUR:

105859992(CACNA1S)

LCAT:

123626819(CACNA1S)

PCOQ:

105815312 105826943

OGA:	100962683(CACNA1S)

MMU:	12292(Cacna1s)

MCAL:

110296075(Cacna1s)

MPAH:

110322010(Cacna1s)

RNO:	682930(Cacna1s)

MCOC:

116069682(Cacna1s)

ANU:	117716104(Cacna1s)

MUN:	110548425(Cacna1s)

CGE:	100765508(Cacna1s)

MAUA:

101835763(Cacna1s)

PROB:

127221312(Cacna1s)

PLEU:

114683299(Cacna1s)

MORG:

121444275(Cacna1s)

MFOT:

126505025

AAMP:

119827234(Cacna1s)

NGI:	103731814(Cacna1s)

HGL:	101726232(Cacna1s)

CPOC:

100734741(Cacna1s)

CCAN:

109696593

DORD:

105986412(Cacna1s)

DSP:	122126705(Cacna1s)

PLOP:

125360227(Cacna1s)

NCAR:

124961645

MMMA:

107140653(Cacna1s)

OCU:	100009585(CACNA1S)

OPI:	101529015(CACNA1S)

TUP:	102481015(CACNA1S)

GVR:	103597229(CACNA1S)

CFA:	490244(CACNA1S)

CLUD:

112667091(CACNA1S)

VVP:	112934538(CACNA1S)

VLG:	121493117(CACNA1S)

NPO:	129505985(CACNA1S)

AML:	100472835(CACNA1S)

UMR:	103657769(CACNA1S)

UAH:	113242563(CACNA1S)

UAR:	123785763(CACNA1S)

ELK:

111150995

LLV:

125086002

MPUF:

101688476(CACNA1S)

MNP:	132026153(CACNA1S)

MLK:	131814910(CACNA1S)

NVS:	122918773(CACNA1S)

ORO:	101385947(CACNA1S)

EJU:	114221937(CACNA1S)

ZCA:	113932406(CACNA1S)

MLX:	118014221(CACNA1S)

NSU:	110573862(CACNA1S)

LWW:	102745809(CACNA1S)

FCA:	654399(CACNA1S)

PYU:	121021720(CACNA1S)

PCOO:

112857700(CACNA1S)

PBG:	122476562(CACNA1S)

PVIV:

125155193(CACNA1S)

LRUF:

124510409

PTG:	102949808(CACNA1S)

PPAD:

109256096(CACNA1S)

PUC:

125925380

AJU:

106974264

HHV:	120228884(CACNA1S)

BTA:	100337204(CACNA1S)

BOM:	102272241(CACNA1S)

BBUB:

102397191(CACNA1S)

BBIS:

104981877(CACNA1S)

CHX:	102176151(CACNA1S)

OAS:	101108767(CACNA1S)

BTAX:

128061188(CACNA1S)

ODA:	120880100(CACNA1S)

CCAD:

122452261(CACNA1S)

MBEZ:

129551192(CACNA1S)

SSC:	100622149(CACNA1S)

CFR:	102507309(CACNA1S)

CBAI:

105070011(CACNA1S)

CDK:	105090835(CACNA1S)

VPC:	102528399(CACNA1S)

BACU:

103014409(CACNA1S)

BMUS:

118897154(CACNA1S)

LVE:	103090575(CACNA1S)

OOR:	101275416(CACNA1S)

DLE:	111168340(CACNA1S)

PCAD:

102987099(CACNA1S)

PSIU:

116739924(CACNA1S)

NASI:

112402631(CACNA1S)

ECB:	100034092(CACNA1S)

EPZ:	103565109(CACNA1S)

EAI:	106823553(CACNA1S)

MYB:	102243265(CACNA1S)

MYD:	102760374(CACNA1S)

MMYO:

118678862(CACNA1S)

PKL:	118721896(CACNA1S)

EFUS:

103303711(CACNA1S)

MNA:	107536018(CACNA1S)

DRO:	112318756(CACNA1S)

SHON:

119003902(CACNA1S)

AJM:	119060725(CACNA1S)

PDIC:

114512262(CACNA1S)

PHAS:

123832334(CACNA1S)

MMF:	118640543(CACNA1S)

PPAM:

129072943(CACNA1S)

HAI:	109380439(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)

SETR:

126004344(CACNA1S)

LAV:	100673089(CACNA1S)

TMU:

101343945

ETF:	101658956(CACNA1S)

DNM:	101431251(CACNA1S)

MDO:	100013684(CACNA1S)

GAS:	123245622(CACNA1S)

SHR:	100917433(CACNA1S)

AFZ:

127562742

PCW:	110219570(CACNA1S)

OAA:	100093447(CACNA1S)

GGA:	395985(CATSPER2)

PCOC:

116238729(CACNA1S)

MGP:	100547445(CACNA1S)

CJO:	107324611(CACNA1S)

TPAI:

128090290(CACNA1S)

LMUT:

125683997(CACNA1S)

NMEL:

110388201(CACNA1S)

APLA:

101801311

ACYG:

106046137(CACNA1S)

CATA:

118255291(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)

OMA:	130263593(CACNA1S)

PHI:	102111358(CACNA1S)

PMAJ:

107214754(CACNA1S)

CCAE:

111939717(CACNA1S)

CCW:	104692446(CACNA1S)

CBRC:

103619471(CACNA1S)

ETL:	114064775(CACNA1S)

ZAB:	102072903(CACNA1S)

ACHL:

103797159(CACNA1S)

SVG:	106850939(CACNA1S)

MMEA:

130578832(CACNA1S)

HRT:	120762721(CACNA1S)

FPG:	101914764(CACNA1S)

FCH:	102058184(CACNA1S)

CLV:	102092229(CACNA1S)

EGZ:	104122032(CACNA1S)

NNI:	104011070(CACNA1S)

PCRI:

104028054(CACNA1S)

PLET:

104621942(CACNA1S)

ACUN:

113488965(CACNA1S)

TALA:

104358095(CACNA1S)

PADL:

103913818(CACNA1S)

AFOR:

103901091

ACHC:

115335203(CACNA1S)

HALD:

104323775(CACNA1S)

HLE:	104842414(CACNA1S)

AGEN:

126052405

GCL:

127026378

CCRI:

104157381(CACNA1S)

CSTI:

104561676(CACNA1S)

CMAC:

104478656(CACNA1S)

MUI:	104543608(CACNA1S)

BREG:

104639501(CACNA1S)

FGA:	104071045(CACNA1S)

GSTE:

104264447(CACNA1S)

LDI:	104344820(CACNA1S)

OHA:	104337830(CACNA1S)

NNT:	104413454(CACNA1S)

SHAB:

115602452(CACNA1S)

DPUB:

104309266(CACNA1S)

PGUU:

104465541(CACNA1S)

ACAR:

104520524

CPEA:

104390498(CACNA1S)

AVIT:

104278023

CVF:	104283174(CACNA1S)

RTD:	128900329(CACNA1S)

CUCA:

104058982(CACNA1S)

TEO:	104380113(CACNA1S)

BRHI:

104501442(CACNA1S)

AAM:	106500235(CACNA1S)

AROW:

112961842

NPD:	112959119(CACNA1S)

TGT:	104566797(CACNA1S)

DNE:	112983855(CACNA1S)

SCAM:

104139284(CACNA1S)

ASN:	102377229(CACNA1S)

AMJ:	102563699(CACNA1S)

CPOO:

109317585(CACNA1S)

PSS:

102453880

CMY:	114020321(CACNA1S)

CCAY:

125625164(CACNA1S)

DCC:	119846310(CACNA1S)

CPIC:

101932307

CABI:

116837308(CACNA1S)

MRV:	120403655(CACNA1S)

ACS:	100551605(cacna1s)

ASAO:

132773753(CACNA1S)

PVT:	110085291(CACNA1S)

SUND:

121928807(CACNA1S)

PBI:	103055781(CACNA1S)

PMUR:

107289042(CACNA1S)

CTIG:

120298959(CACNA1S)

TSR:	106549619(CACNA1S)

PGUT:

117664028(CACNA1S)

APRI:

131196419(CACNA1S)

PTEX:

113446940 113447751

NSS:	113418846 113418965

VKO:	123024268(CACNA1S)

PMUA:

114599194(CACNA1S)

PRAF:

128415973(CACNA1S)

ZVI:	118088554(CACNA1S)

HCG:	128323424(CACNA1S)

GJA:	107110972(CACNA1S)

STOW:

125433366(CACNA1S)

EMC:	129329616(CACNA1S)

XLA:	100381134(cacna1s.S) 108707491

XTR:	100485035(cacna1s)

NPR:	108804869(CACNA1S)

RTEM:

120927212(CACNA1S)

BBUF:

120995137(CACNA1S)

BGAR:

122933053(CACNA1S)

MUO:	115481344(CACNA1S)

GSH:	117347451(CACNA1S)

DRE:	405791(cacna1sb) 570683(cacna1sa)

SRX:	107707674 107711920

SANH:

107667627 107669632 107679379

SGH:	107550462 107572552 107591792

CCAR:

109068176

CAUA:

113040331 113093954 113107268 113107582

CGIB:

127963663 127987679 128018620

PTET:

122327907(cacna1sa) 122350146(cacna1sb)

LROH:

127162533(cacna1sa) 127169628(cacna1sb)

OMC:	131531222(cacna1sa) 131545431(cacna1sb)

PPRM:

120483504(cacna1sb) 120486533(cacna1sa)

RKG:	130072686(cacna1sa) 130094579(cacna1sb)

MAMB:

125263059(cacna1sa) 125279856(cacna1sb)

CIDE:

127517752 127521648

MASI:

127414499 127438377

TROS:

130548631(cacna1sa) 130568290(cacna1sb)

TDW:	130430334(cacna1sa) 130440240(cacna1sb)

MANU:

129413715(cacna1sb) 129453282(cacna1sa)

IPU:	108254927(cacna1sa) 108266034(cacna1sb)

IFU:	128607938(cacna1sb) 128625109(cacna1sa)

PHYP:

113526802(cacna1s)

SMEO:

124400141(cacna1sb) 124402415(cacna1sa)

TFD:	113648899(cacna1sa) 113656001(cacna1sb)

TVC:	132838336(cacna1sa) 132853220(cacna1sb)

AMEX:

103022292 103036105

CMAO:

118799299(cacna1sa) 118813753(cacna1sb)

EEE:	113581084 113586976(cacna1s)

CHAR:

105897327(cacna1sb) 105900081(cacna1sa)

TRU:	101064508 101065120

TFS:	130529418 130540103(cacna1sa)

TNG:	GSTEN00015785G001 GSTEN00028107G001

LCO:	104932670(cacna1s)

NCC:	104956859(cacna1s)

TBEN:

117493994(cacna1sb) 117493999

CGOB:

115007829 115010609

PGEO:

117446411 117449305(cacna1sb)

GACU:

117535431 117541823(cacna1sb)

EMAC:

134870372 134882813

ELY:	117251027 117258405

EFO:	125886092 125891090

PLEP:

121946489

SLUC:

116036694 116039109

ECRA:

117942791 117947748(cacna1sb)

ESP:	116692230(cacna1s)

PFLV:

114553640 114558278

GAT:	120829078(cacna1sb) 120835575

PPUG:

119193902 119221886

AFB:	129099233 129105522

CLUM:

PSWI:

MSAM:

SCHU:

CUD:	121507344 121517507

ALAT:

119020797 119023476

MZE:	101479917(cacna1s)

ONL:	100704349(cacna1s)

OAU:

116325819

OLA:	101160313 101170269

OML:	112144928 112159792

CSAI:

133449049 133457197

XMA:	102237099(cacna1s)

XCO:	114148648(cacna1s)

XHE:	116727080(cacna1s)

PRET:

103467335(cacna1s)

PFOR:

103141148(cacna1s)

PLAI:

106935710 106950813(cacna1s)

PMEI:

106920834(cacna1s)

GAF:

122836924

PPRL:

129372226

CVG:	107086768(cacna1s)

CTUL:

119782227

GMU:

124869521

NFU:	107390862(cacna1s)

KMR:

108244587

ALIM:

106525038(cacna1s)

NWH:

119417628

AOCE:

111564440(cacna1s) 111586752

MCEP:

125006895

CSEM:

103385091 103386795

POV:	109630550(cacna1s)

SSEN:

HHIP:

HSP:

SMAU:

LCF:	108876486 108877469

SDU:	111219219 111221701

SLAL:

111668619 111668912

XGL:	120804406 120807109

HCQ:	109521358 109531393

SSCV:

125977722 125988514

SBIA:

133505669 133507006

PEE:	133402394 133408910

PTAO:

133478597 133483173

BPEC:

110164965(cacna1s)

MALB:

109968827(cacna1s)

BSPL:

114858880

SJO:

128357450

SASA:

106565294 106567031 106583479

STRU:

115150281 115167827 115208150

OTW:

112221688

OMY:	110491948 110494953 110528387

OGO:	124003446 124028741 124046106

ONE:	115102692 115142918

OKI:	109869670 109885052 109891316 109899957

OKE:	118360125 118389361 118399696

SALP:

111962608 111970366 111976724

SNH:	120021753 120060984 120064811

CCLU:

121545876 121575422 121578080

ELS:	105013561 105016828

SFM:	108931184 108933625(cacna1s)

PKI:	111834368 111858929

AANG:

118208634 118210591(cacna1sa)

LOC:	102684448(cacna1s)

PSPA:

121299863 121299885

ARUT:

117396463 117430530

PSEX:

120525930

LCM:	102356715(CACNA1S)

CMK:

103190861

CPLA:

122562953

HOC:	132828476(cacna1sa)

LERI:

PMRN:

LRJ:

PPOI:

BGT:

GAE:

HRF:

CRG:

CVN:

CANU:

OED:

PMAX:

MMER:

RPHI:

DPOL:

ATEN:

HSY:	130628971 130656343

PTM:	GSPATT00027650001 GSPATT00029652001

» show all

Reference

PMID:20861472

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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Ontology (4)   
   KEGG BRITE (2)   
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