KEGG   Homo sapiens (human): 778Help
Entry
778               CDS       T01001                                 

Gene name
CACNA1F, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2
Definition
calcium channel, voltage-dependent, L type, alpha 1F subunit
Orthology
K04853  
voltage-dependent calcium channel L type alpha-1F
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Insulin secretion
GnRH signaling pathway
Oxytocin signaling pathway
Alzheimer's disease
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00481  
Cone-rod dystrophy and cone dystrophy
H00690  
Aland Island eye disease
H00787  
Congenital stationary night blindness (CSNB)
Drug target
Dronedarone: 
Diltiazem: 
Amlodipine: 
Felodipine: 
Isradipine: 
Nicardipine: 
Nifedipine: 
Nimodipine: 
Nisoldipine: 
Nitrendipine: 
Lacidipine: 
Nilvadipine: 
Manidipine: 
Barnidipine: 
Lercanidipine: 
Cilnidipine: 
Benidipine: 
Clevidipine: 
Verapamil: 
Gallopamil: 
Fendiline: 
Bepridil: 
Perhexiline: 
Topiramate: 
Other: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    778 (CACNA1F)
   04020 Calcium signaling pathway
    778 (CACNA1F)
   04024 cAMP signaling pathway
    778 (CACNA1F)
   04022 cGMP - PKG signaling pathway
    778 (CACNA1F)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    778 (CACNA1F)
   04912 GnRH signaling pathway
    778 (CACNA1F)
   04921 Oxytocin signaling pathway
    778 (CACNA1F)
  Circulatory system
   04260 Cardiac muscle contraction
    778 (CACNA1F)
   04261 Adrenergic signaling in cardiomyocytes
    778 (CACNA1F)
   04270 Vascular smooth muscle contraction
    778 (CACNA1F)
  Nervous system
   04727 GABAergic synapse
    778 (CACNA1F)
   04725 Cholinergic synapse
    778 (CACNA1F)
   04726 Serotonergic synapse
    778 (CACNA1F)
   04723 Retrograde endocannabinoid signaling
    778 (CACNA1F)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    778 (CACNA1F)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    778 (CACNA1F)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    778 (CACNA1F)
   05414 Dilated cardiomyopathy (DCM)
    778 (CACNA1F)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   778 (CACNA1F)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xp11.23
AA seq 1966 aa AA seqDB search
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTETQGDEDEEEGA
LASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVFLNTLTIASEHH
GQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLV
EVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFS
LLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDGIMAYGGPFFPG
MLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVP
GVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAF
FCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAF
TSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVL
RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTD
EAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPAL
LYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNC
ELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQH
YEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAV
TEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYVA
LLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLA
SLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYLTRDW
SILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVACKRLVAM
NMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQKLLDEVIP
PPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAGLRSLQDLGPEM
RQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVSLPVGDRLPDSL
SFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGTKGQNKQDEDEE
VPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRKPSFTIQCLQRQ
GSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAAGEGYLGRSSGP
LRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVALAKQEIADACRL
TLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
NT seq 5901 nt NT seq  +upstreamnt  +downstreamnt
atgtcggaatctgaaggcgggaaagacaccaccccagagcccagtccagccaatggggca
ggccctggtcccgaatgggggctgtgccccgggcccccagctgtggaaggtgaaagcagt
ggggcatcaggcctagggacccctaagcgaagaaaccagcacagcaagcacaagacagtg
gcagtggccagtgcccagcggtcacctcgggcactcttctgcctcaccctggccaatcct
ctgcgacggtcctgcatcagcatcgtggagtggaagcccttcgacatcctcatcctgctg
accatctttgccaactgcgtggccctgggagtttacatccccttccctgaggacgactcc
aacactgccaaccacaacctggagcaggtggagtacgtattcctggtgattttcactgtg
gagacggtgctcaagatcgtggcctacgggctggtgctccaccccagcgcctacatccgc
aatggctggaacctactcgacttcatcatcgtcgtggtcgggctgttcagcgttctgctg
gagcagggccccggacggccaggcgacgccccgcacaccgggggaaagccaggaggcttc
gatgtgaaggcattgagggcgtttcgggtgctgcggccactgaggctggtgtctggggtc
ccgagcctgcacatagtgctcaattccatcatgaaggctctggtgccgctgctgcacatt
gcactgctcgtgctcttcgtcatcatcatttatgccatcattgggctcgagctgttcctt
ggacgaatgcacaagacgtgctacttcctgggatccgacatggaagcggaggaggaccca
tcgccctgtgcgtcttcgggatcagggcgtgcgtgcacgctgaaccagactgagtgccgc
gggcgctggccagggcccaatggaggcatcaccaactttgacaacttcttcttcgccatg
ctgacagtcttccagtgtgtcaccatggaaggctggaccgatgtgctctactggatgcaa
gatgccatggggtatgaactgccctgggtgtactttgtgagccttgtcatctttgggtcc
ttcttcgtcctcaaccttgtgcttggcgtcctgagtggggagttctccaaggagagagag
aaagcgaaagctcgcggggacttccagaagcagcgggagaagcagcagatggaggaagac
ctgcggggctacctggactggatcactcaagccgaagagctggacatggaggacccctcc
gccgatgacaaccttgggccacagctggccgagctgaccaataggaggcgtggacgtctg
cgctggttcagtcattctactcgctccacacactccaccagcagccatgccagcctccca
gccagtgacaccggttccatgacagagacccaaggcgatgaggatgaggaggagggggct
ctggccagctgtacacgctgcctaaacaagatcatgaaaaccagagtctgccgccgcctc
cgccgagccaaccgggtccttcgggcacgctgccgtcgggcagtgaagtccaatgcctgc
tactgggctgtgctgttgctcgtcttcctcaacacgttgaccatcgcctctgagcaccac
gggcagcctgtgtggctcacccagatccaggagtatgccaacaaagtgttgctctgtctg
ttcacggtggagatgcttctcaaattgtacggtctgggcccctctgcctatgtgtcttcc
ttcttcaaccgctttgactgctttgtggtctgtgggggcatcctagagaccaccttggtg
gaggtgggtgccatgcagcccttgggcatctcagtgctccgatgtgtgcgcctcctcagg
atctttaaggtcaccagacactgggcttctctgagcaatctggtggcatccctgctcaat
tcaatgaaatccatcgcatccttgctgcttctcctcttcctcttcatcattatcttctcc
ctgcttggcatgcagctgtttgggggcaagttcaactttgaccagacccacaccaagcga
agcacctttgacacgttcccccaggccctcctcactgtctttcagatcctgacaggtgag
gactggaacgtggtcatgtatgatggtatcatggcatatggtggccccttcttcccagga
atgttggtgtgcatctatttcatcattctcttcatctgtggcaactacatcctgttgaac
gtgtttcttgccattgctgtggacaacctggccagtggagatgcaggcactgccaaggac
aagggcggggagaagagcaatgagaaggatctcccacaggagaatgaaggcctggtgcct
ggtgtggagaaagaggaagaggagggtgcaaggagggaaggagcagacatggaggaggag
gaggaggaggaagaagaggaagaagaggaagaagaggaagagggtgcagggggtgtggaa
ctcctgcaggaagttgtacccaaggagaaggtggtacccatccctgagggcagcgccttc
ttctgcctcagccaaaccaacccgctgaggaagggctgccacaccctcatccaccatcat
gtcttcaccaatcttatcctggtgttcatcatcctcagcagtgtgtccctggccgctgag
gaccccatccgagcccactccttccgcaaccatattctgggttacttcgattatgccttc
acctccattttcactgtggagattctactaaagatgacagtgtttggggccttcctgcac
cgcggctccttctgccgtagctggtttaatatgttggatctgctggtggtcagtgtgtcc
ctcatctcctttggcatccactccagcgccatctcggtggtgaagattctgcgagtactc
cgagtactgcggcccctccgagccatcaacagggccaagggactcaagcatgtggtgcag
tgtgtatttgtggccatccggaccatcggaaacatcatgattgtcaccacacttctgcaa
tttatgttcgcctgcatcggggtgcagctcttcaaggggaaattctacacctgcacggac
gaggccaaacacacccctcaagaatgcaagggctccttcctggtatacccagatggagac
gtgtcacggcccctggtccgggagcggctctgggtcaacagtgatttcaactttgacaat
gtcctttcagccatgatggccctgttcactgtctccacctttgaaggctggcctgcactg
ctatacaaggccatcgatgcatatgcagaggaccacggccccatctataattaccgtgtg
gagatctcagtgttcttcattgtctacatcatcatcattgcgttcttcatgatgaacatc
ttcgtgggcttcgtcatcatcactttccgtgcccagggcgagcaggagtaccaaaactgt
gagctggacaagaaccagcgtcaatgtgtggaatatgccctcaaggcccagccactccgc
cgttacatccccaagaacccgcatcagtatcgtgtgtgggccactgtgaactctgctgcc
tttgagtacctgatgttcctgctcatcctgctcaacacagttgccctagccatgcagcac
tatgagcagactgctcccttcaactatgccatggacatcctcaacatggtcttcactggc
ctcttcactattgagatggtgctcaaaatcatcgccttcaagcccaagcattacttcact
gatgcctggaacacgtttgacgctcttattgtggtgggcagcatagtggatattgccgtc
actgaagtcaataatggtggccaccttggcgagagctctgaggacagctcccgcatttcc
attaccttctttcgcctcttccgagttatgcggctggtcaagcttctcagtaagggtgaa
gggatccgcacattgctctggacattcatcaagtccttccaggccttgccctatgtggct
cttctcatcgcaatgatattcttcatctatgccgtcattggcatgcagatgttcggcaag
gtggctcttcaggatggcacacagataaaccgaaacaacaacttccagacctttccacag
gctgtgctgcttctgttcaggtgtgccactggtgaggcatggcaggagataatgcttgcc
agccttcccggaaatcggtgtgatcctgagtctgacttcggccctggtgaagagtttacc
tgtggtagcaattttgccatcgcctatttcatcagcttcttcatgctctgtgccttcctg
atcataaatctctttgtggctgtgatcatggacaactttgattatctcaccagagattgg
tccatcctgggcccccatcaccttgatgaattcaagaggatctggtctgaatatgaccct
ggggccaagggccgcatcaaacacttggatgtggttgccctgctgagacgtatccagccc
cctctgggatttgggaagctgtgcccacaccgagtggcctgcaagagacttgtggcaatg
aacatgcccctcaactcagatgggacggtgacattcaacgccacactctttgccctggtc
cggacatccctgaagatcaaaacagaagggaacctggagcaagccaaccaggagctgcgg
attgtcatcaaaaagatctggaagcggatgaaacagaagctgctagatgaggtcatcccc
ccaccagacgaggaggaggtcaccgtgggcaaattctacgccacatttctgatccaggac
tatttccgcaaattccggcggaggaaagaaaaagggctactaggcaacgacgccgcccct
agcacctcttccgcccttcaggctggtctgcggagcctgcaggacttgggtcctgagatg
cggcaggccctcacctgtgacacagaggaggaggaagaagaggggcaggagggagtggag
gaggaagatgaaaaggacttggaaactaacaaagccacgatggtctcccagccctcagct
cgccggggctccgggatttctgtgtctctgcctgtcggggacagacttccagattcactc
tcctttgggcccagtgatgatgacagggggactcccacctccagtcagcccagtgtgccc
caggctggatccaacacccacaggagaggctctggggctctcattttcaccatcccagaa
gaaggaaattctcagcccaagggaaccaaagggcaaaacaagcaagatgaggatgaggaa
gtccctgatcggctttcctacctagatgagcaggcagggactcccccgtgctcagtcctt
ttgccacctcacagagctcagagatacatggatgggcacctggtaccacgccgccgtctg
ctgccccccacacctgcaggtcggaagccctccttcaccatccagtgtctgcagcgccag
ggcagttgtgaggatttacccatcccaggcacctatcatcgtgggcgaaattcagggccc
aatagggctcagggttcctgggcaacaccacctcagcggggtcggctcctgtatgccccg
ctgttgttggtggaagagggcgcagcgggggaggggtacctcggcagatccagtggccca
ctgcgcaccttcacctgtctgcacgtgcctggaacccactcggaccccagccatgggaag
aggggcagtgccgacagcttggtggaggctgtgcttatctcagagggtctgggcctcttt
gctcgagacccacgtttcgtggccctggccaagcaggagattgcagatgcgtgtcgcctg
acgctggatgagatggacaatgctgccagtgacctgctggcacagggaaccagctctctc
tatagcgacgaggagtccatcctctcccgcttcgatgaggaggacttgggagacgagatg
gcctgcgtccacgccctctga

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