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
(RefSeq) calcium voltage-gated channel subunit alpha1 F
  KO
K04853  voltage-dependent calcium channel L type alpha-1F
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 syndrome
hsa05010  Alzheimer disease
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00690  Aland Island eye disease
H00787  Congenital stationary night blindness
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
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
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 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)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    778 (CACNA1F)
   04912 GnRH signaling pathway
    778 (CACNA1F)
   04921 Oxytocin signaling pathway
    778 (CACNA1F)
   04924 Renin secretion
    778 (CACNA1F)
   04925 Aldosterone synthesis and secretion
    778 (CACNA1F)
   04927 Cortisol synthesis and secretion
    778 (CACNA1F)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    778 (CACNA1F)
   04261 Adrenergic signaling in cardiomyocytes
    778 (CACNA1F)
   04270 Vascular smooth muscle contraction
    778 (CACNA1F)
  09156 Nervous system
   04727 GABAergic synapse
    778 (CACNA1F)
   04725 Cholinergic synapse
    778 (CACNA1F)
   04726 Serotonergic synapse
    778 (CACNA1F)
   04723 Retrograde endocannabinoid signaling
    778 (CACNA1F)
 09160 Human Diseases
  09164 Neurodegenerative diseases
   05010 Alzheimer disease
    778 (CACNA1F)
  09166 Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    778 (CACNA1F)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    778 (CACNA1F)
   05414 Dilated cardiomyopathy (DCM)
    778 (CACNA1F)
  09167 Endocrine and metabolic diseases
   04934 Cushing syndrome
    778 (CACNA1F)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    778 (CACNA1F)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   778 (CACNA1F)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Motif
Other DBs
NCBI-GeneID: 778
NCBI-ProteinID: NP_005174
OMIM: 300110
HGNC: 1393
Ensembl: ENSG00000102001
Vega: OTTHUMG00000022703
Pharos: O60840(Tchem)
UniProt: O60840
Position
Xp11.23
AA seq 1977 aa AA seqDB search
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
NT seq 5934 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
gccgatgacaaccttggttctatggctgaagagggccgggcgggccatcggccacagctg
gccgagctgaccaataggaggcgtggacgtctgcgctggttcagtcattctactcgctcc
acacactccaccagcagccatgccagcctcccagccagtgacaccggttccatgacagag
acccaaggcgatgaggatgaggaggagggggctctggccagctgtacacgctgcctaaac
aagatcatgaaaaccagagtctgccgccgcctccgccgagccaaccgggtccttcgggca
cgctgccgtcgggcagtgaagtccaatgcctgctactgggctgtgctgttgctcgtcttc
ctcaacacgttgaccatcgcctctgagcaccacgggcagcctgtgtggctcacccagatc
caggagtatgccaacaaagtgttgctctgtctgttcacggtggagatgcttctcaaattg
tacggtctgggcccctctgcctatgtgtcttccttcttcaaccgctttgactgctttgtg
gtctgtgggggcatcctagagaccaccttggtggaggtgggtgccatgcagcccttgggc
atctcagtgctccgatgtgtgcgcctcctcaggatctttaaggtcaccagacactgggct
tctctgagcaatctggtggcatccctgctcaattcaatgaaatccatcgcatccttgctg
cttctcctcttcctcttcatcattatcttctccctgcttggcatgcagctgtttgggggc
aagttcaactttgaccagacccacaccaagcgaagcacctttgacacgttcccccaggcc
ctcctcactgtctttcagatcctgacaggtgaggactggaacgtggtcatgtatgatggt
atcatggcatatggtggccccttcttcccaggaatgttggtgtgcatctatttcatcatt
ctcttcatctgtggcaactacatcctgttgaacgtgtttcttgccattgctgtggacaac
ctggccagtggagatgcaggcactgccaaggacaagggcggggagaagagcaatgagaag
gatctcccacaggagaatgaaggcctggtgcctggtgtggagaaagaggaagaggagggt
gcaaggagggaaggagcagacatggaggaggaggaggaggaggaagaagaggaagaagag
gaagaagaggaagagggtgcagggggtgtggaactcctgcaggaagttgtacccaaggag
aaggtggtacccatccctgagggcagcgccttcttctgcctcagccaaaccaacccgctg
aggaagggctgccacaccctcatccaccatcatgtcttcaccaatcttatcctggtgttc
atcatcctcagcagtgtgtccctggccgctgaggaccccatccgagcccactccttccgc
aaccatattctgggttacttcgattatgccttcacctccattttcactgtggagattcta
ctaaagatgacagtgtttggggccttcctgcaccgcggctccttctgccgtagctggttt
aatatgttggatctgctggtggtcagtgtgtccctcatctcctttggcatccactccagc
gccatctcggtggtgaagattctgcgagtactccgagtactgcggcccctccgagccatc
aacagggccaagggactcaagcatgtggtgcagtgtgtatttgtggccatccggaccatc
ggaaacatcatgattgtcaccacacttctgcaatttatgttcgcctgcatcggggtgcag
ctcttcaaggggaaattctacacctgcacggacgaggccaaacacacccctcaagaatgc
aagggctccttcctggtatacccagatggagacgtgtcacggcccctggtccgggagcgg
ctctgggtcaacagtgatttcaactttgacaatgtcctttcagccatgatggccctgttc
actgtctccacctttgaaggctggcctgcactgctatacaaggccatcgatgcatatgca
gaggaccacggccccatctataattaccgtgtggagatctcagtgttcttcattgtctac
atcatcatcattgcgttcttcatgatgaacatcttcgtgggcttcgtcatcatcactttc
cgtgcccagggcgagcaggagtaccaaaactgtgagctggacaagaaccagcgtcaatgt
gtggaatatgccctcaaggcccagccactccgccgttacatccccaagaacccgcatcag
tatcgtgtgtgggccactgtgaactctgctgcctttgagtacctgatgttcctgctcatc
ctgctcaacacagttgccctagccatgcagcactatgagcagactgctcccttcaactat
gccatggacatcctcaacatggtcttcactggcctcttcactattgagatggtgctcaaa
atcatcgccttcaagcccaagcattacttcactgatgcctggaacacgtttgacgctctt
attgtggtgggcagcatagtggatattgccgtcactgaagtcaataatggtggccacctt
ggcgagagctctgaggacagctcccgcatttccattaccttctttcgcctcttccgagtt
atgcggctggtcaagcttctcagtaagggtgaagggatccgcacattgctctggacattc
atcaagtccttccaggccttgccctatgtggctcttctcatcgcaatgatattcttcatc
tatgccgtcattggcatgcagatgttcggcaaggtggctcttcaggatggcacacagata
aaccgaaacaacaacttccagacctttccacaggctgtgctgcttctgttcaggtgtgcc
actggtgaggcatggcaggagataatgcttgccagccttcccggaaatcggtgtgatcct
gagtctgacttcggccctggtgaagagtttacctgtggtagcaattttgccatcgcctat
ttcatcagcttcttcatgctctgtgccttcctgatcataaatctctttgtggctgtgatc
atggacaactttgattatctcaccagagattggtccatcctgggcccccatcaccttgat
gaattcaagaggatctggtctgaatatgaccctggggccaagggccgcatcaaacacttg
gatgtggttgccctgctgagacgtatccagccccctctgggatttgggaagctgtgccca
caccgagtggcctgcaagagacttgtggcaatgaacatgcccctcaactcagatgggacg
gtgacattcaacgccacactctttgccctggtccggacatccctgaagatcaaaacagaa
gggaacctggagcaagccaaccaggagctgcggattgtcatcaaaaagatctggaagcgg
atgaaacagaagctgctagatgaggtcatccccccaccagacgaggaggaggtcaccgtg
ggcaaattctacgccacatttctgatccaggactatttccgcaaattccggcggaggaaa
gaaaaagggctactaggcaacgacgccgcccctagcacctcttccgcccttcaggctggt
ctgcggagcctgcaggacttgggtcctgagatgcggcaggccctcacctgtgacacagag
gaggaggaagaagaggggcaggagggagtggaggaggaagatgaaaaggacttggaaact
aacaaagccacgatggtctcccagccctcagctcgccggggctccgggatttctgtgtct
ctgcctgtcggggacagacttccagattcactctcctttgggcccagtgatgatgacagg
gggactcccacctccagtcagcccagtgtgccccaggctggatccaacacccacaggaga
ggctctggggctctcattttcaccatcccagaagaaggaaattctcagcccaagggaacc
aaagggcaaaacaagcaagatgaggatgaggaagtccctgatcggctttcctacctagat
gagcaggcagggactcccccgtgctcagtccttttgccacctcacagagctcagagatac
atggatgggcacctggtaccacgccgccgtctgctgccccccacacctgcaggtcggaag
ccctccttcaccatccagtgtctgcagcgccagggcagttgtgaggatttacccatccca
ggcacctatcatcgtgggcgaaattcagggcccaatagggctcagggttcctgggcaaca
ccacctcagcggggtcggctcctgtatgccccgctgttgttggtggaagagggcgcagcg
ggggaggggtacctcggcagatccagtggcccactgcgcaccttcacctgtctgcacgtg
cctggaacccactcggaccccagccatgggaagaggggcagtgccgacagcttggtggag
gctgtgcttatctcagagggtctgggcctctttgctcgagacccacgtttcgtggccctg
gccaagcaggagattgcagatgcgtgtcgcctgacgctggatgagatggacaatgctgcc
agtgacctgctggcacagggaaccagctctctctatagcgacgaggagtccatcctctcc
cgcttcgatgaggaggacttgggagacgagatggcctgcgtccacgccctctga

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