Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

775

Name

CACNA1C

Synonym

CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS;calcium channel, voltage-dependent, L type, alpha 1C subunit;CACNA1C;calcium channel, voltage-dependent, L type, alpha 1C subunit

Definition

DHPR, alpha-1 subunit|calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle|calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit|voltage-dependent L-type calcium channel subunit alpha-1C|voltage-gated L-type calcium channel

Position

12p13.3

Gene Type

protein-coding

PAH Type

Description

HPH

"PA rings, Western blot, quantitative real-time PCR, in situ hybridization, and luciferase assay were used to investigate the role of miRNA-328 in hypoxic pulmonary hypertension".

PH

Supplemental Table 1: A list of genes and functional categories that comprises a PHrelevant gene module (PH-module).
More detail of all Human literatures about CACNA1C

Pathways and Diseases

Pathway

Vascular smooth muscle contraction;KEGG PATHWAY;hsa04270

Pathway

Arrhythmogenic right ventricular cardiomyopathy (ARVC);KEGG PATHWAY;hsa05412

Pathway

Integration of energy metabolism;Reactome;REACT:1505

Pathway

Axon guidance;Reactome;REACT:18266

Pathway

Oxytocin receptor mediated signaling pathway;PANTHER;P04391

Pathway

Nicotinic acetylcholine receptor signaling pathway;PANTHER;P00044

Pathway

5HT2 type receptor mediated signaling pathway;PANTHER;P04374

Pathway

Beta2 adrenergic receptor signaling pathway;PANTHER;P04378

Pathway

Long-term potentiation;KEGG PATHWAY;hsa04720

Pathway

MAPK signaling pathway;KEGG PATHWAY;hsa04010

Pathway

Beta1 adrenergic receptor signaling pathway;PANTHER;P04377

Pathway

Dilated cardiomyopathy;KEGG PATHWAY;hsa05414

Pathway

Hypertrophic cardiomyopathy (HCM);KEGG PATHWAY;hsa05410

Pathway

Calcium signaling pathway;KEGG PATHWAY;hsa04020

Pathway

Diabetes pathways;Reactome;REACT:15380

Pathway

Cardiac muscle contraction;KEGG PATHWAY;hsa04260

Pathway

Type II diabetes mellitus;KEGG PATHWAY;hsa04930

Pathway

GnRH signaling pathway;KEGG PATHWAY;hsa04912

Pathway

Alzheimer disease-amyloid secretase pathway;PANTHER;P00003

Pathway

Alzheimer's disease;KEGG PATHWAY;hsa05010

Disease

Warfarin maintenance dose;NHGRI

Disease

hypertension;GAD

Disease

PSYCH;GAD

Disease

PHARMACOGENOMIC;GAD

Disease

Timothy syndrome;OMIM

Disease

Bipolar disorder;NHGRI

Disease

Brugada syndrome 3;OMIM

Disease

bipolar disorder;GAD

Disease

Bipolar disorder and major depressive disorder (combined);NHGRI

Disease

Atherosclerosis;FunDO

Disease

warfarin maintenance dose;GAD

External Links

Links to Entrez Gene

775

Links to all GeneRIF Items

775

Links to iHOP

775

Sequence Information

Nucleotide Sequence

>775 : length: 6417
atggtcaatgagaatacgaggatgtacattccagaggaaaaccaccaaggttccaactat
gggagcccacgccccgcccatgccaacatgaatgccaatgcggcagcggggctggcccct
gagcacatccccaccccgggggctgccctgtcgtggcaggcggccatcgacgcagcccgg
caggctaagctgatgggcagcgctggcaatgcgaccatctccacagtcagctccacgcag
cggaagcggcagcaatatgggaaacccaagaagcagggcagcaccacggccacacgcccg
ccccgagccctgctctgcctgaccctgaagaaccccatccggagggcctgcatcagcatt
gtcgaatggaaaccatttgaaataattattttactgactatttttgccaattgtgtggcc
ttagcgatctatattccctttccagaagatgattccaacgccaccaattccaacctggaa
cgagtggaatatctctttctcataatttttacggtggaagcgtttttaaaagtaatcgcc
tatggactcctctttcaccccaatgcctacctccgcaacggctggaacctactagatttt
ataattgtggttgtggggctttttagtgcaattttagaacaagcaaccaaagcagatggg
gcaaacgctctcggagggaaaggggccggatttgatgtgaaggcgctgagggccttccgc
gtgctgcgccccctgcggctggtgtccggagtcccaagtctccaggtggtcctgaattcc
atcatcaaggccatggtccccctgctgcacatcgccctgcttgtgctgtttgtcatcatc
atctacgccatcatcggcttggagctcttcatggggaagatgcacaagacctgctacaac
caggagggcatagcagatgttccagcagaagatgacccttccccttgtgcgctggaaacg
ggccacgggcggcagtgccagaacggcacggtgtgcaagcccggctgggatggtcccaag
cacggcatcaccaactttgacaactttgccttcgccatgctcacggtgttccagtgcatc
accatggagggctggacggacgtgctgtactgggtcaatgatgccgtaggaagggactgg
ccctggatctattttgttacactaatcatcatagggtcattttttgtacttaacttggtt
ctcggtgtgcttagcggagagttttccaaagagagggagaaggccaaggcccggggagat
ttccagaagctgcgggagaagcagcagctagaagaggatctcaaaggctacctggattgg
atcactcaggccgaagacatcgatcctgagaatgaggacgaaggcatggatgaggagaag
ccccgaaacatgagcatgcccaccagtgagaccgagtccgtcaacaccgaaaacgtggct
ggaggtgacatcgagggagaaaactgcggggccaggctggcccaccggatctccaagtca
aagttcagccgctactggcgccggtggaatcggttctgcagaaggaagtgccgcgccgca
gtcaagtctaatgtcttctactggctggtgattttcctggtgttcctcaacacgctcacc
attgcctctgagcactacaaccagcccaactggctcacagaagtccaagacacggcaaac
aaggccctgctggccctgttcacggcagagatgctcctgaagatgtacagcctgggcctg
caggcctacttcgtgtccctcttcaaccgctttgactgcttcgtcgtgtgtggcggcatc
ctggagaccatcctggtggagaccaagatcatgtccccactgggcatctccgtgctcaga
tgcgtccggctgctgaggattttcaagatcacgaggtactggaactccttgagcaacctg
gtggcatccttgctgaactctgtgcgctccatcgcctccctgctccttctcctcttcctc
ttcatcatcatcttctccctcctggggatgcagctctttggaggaaagttcaactttgat
gagatgcagacccggaggagcacattcgataacttcccccagtccctcctcactgtgttt
cagatcctgaccggggaggactggaattcggtgatgtatgatgggatcatggcttatggc
ggcccctcttttccagggatgttagtctgtatttacttcatcatcctcttcatctgtgga
aactatatcctactgaatgtgttcttggccattgctgtggacaacctggctgatgctgag
agcctcacatctgcccaaaaggaggaggaagaggagaaggagagaaagaagctggccagg
actgccagcccagagaagaaacaagagttggtggagaagccggcagtgggggaatccaag
gaggagaagattgagctgaaatccatcacggctgacggagagtctccacccgccaccaag
atcaacatggatgacctccagcccaatgaaaatgaggataagagcccctaccccaaccca
gaaactacaggagaagaggatgaggaggagccagagatgcctgtcggccctcgcccacga
ccactctctgagcttcaccttaaggaaaaggcagtgcccatgccagaagccagcgcgttt
ttcatcttcagctctaacaacaggtttcgcctccagtgccaccgcattgtcaatgacacg
atcttcaccaacctgatcctcttcttcattctgctcagcagcatttccctggctgctgag
gacccggtccagcacacctccttcaggaaccatattctgttttattttgatattgttttt
accaccattttcaccattgaaattgctctgaagatgactgcttatggggctttcttgcac
aagggttctttctgccggaactacttcaacatcctggacctgctggtggtcagcgtgtcc
ctcatctcctttggcatccagtccagtgcaatcaatgtcgtgaagatcttgcgagtcctg
cgagtactcaggcccctgagggccatcaacagggccaaggggctaaagcatgtggttcag
tgtgtgtttgtcgccatccggaccatcgggaacatcgtgattgtcaccaccctgctgcag
ttcatgtttgcctgcatcggggtccagctcttcaagggaaagctgtacacctgttcagac
agttccaagcagacagaggcggaatgcaagggcaactacatcacgtacaaagacggggag
gttgaccaccccatcatccaaccccgcagctgggagaacagcaagtttgactttgacaat
gttctggcagccatgatggccctcttcaccgtctccaccttcgaagggtggccagagctg
ctgtaccgctccatcgactcccacacggaagacaagggccccatctacaactaccgtgtg
gagatctccatcttcttcatcatctacatcatcatcatcgccttcttcatgatgaacatc
ttcgtgggcttcgtcatcgtcacctttcaggagcagggggagcaggagtacaagaactgt
gagctggacaagaaccagcgacagtgcgtggaatacgccctcaaggcccggcccctgcgg
aggtacatccccaagaaccagcaccagtacaaagtgtggtacgtggtcaactccacctac
ttcgagtacctgatgttcgtcctcatcctgctcaacaccatctgcctggccatgcagcac
tacggccagagctgcctgttcaaaatcgccatgaacatcctcaacatgctcttcactggc
ctcttcaccgtggagatgatcctgaagctcattgccttcaaacccaagcactatttctgt
gatgcatggaatacatttgacgccttgattgttgtgggtagcattgttgatatagcaatc
accgaggtaaacccagctgaacatacccaatgctctccctctatgaacgcagaggaaaac
tcccgcatctccatcaccttcttccgcctgttccgggtcatgcgtctggtgaagctgctg
agccgtggggagggcatccggacgctgctgtggaccttcatcaagtccttccaggccctg
ccctatgtggccctcctgatcgtgatgctgttcttcatctacgcggtgatcgggatgcag
gtgtttgggaaaattgccctgaatgataccacagagatcaaccggaacaacaactttcag
accttcccccaggccgtgctgctcctcttcaggtgtgccaccggggaggcctggcaggac
atcatgctggcctgcatgccaggcaagaagtgtgccccagagtccgagcccagcaacagc
acggagggtgaaacaccctgtggtagcagctttgctgtcttctacttcatcagcttctac
atgctctgtgccttcctgatcatcaacctctttgtagctgtcatcatggacaactttgac
tacctgacaagggactggtccatccttggtccccaccacctggatgagtttaaaagaatc
tgggcagagtatgaccctgaagccaagggtcgtatcaaacacctggatgtggtgaccctc
ctccggcggattcagccgccactaggttttgggaagctgtgccctcaccgcgtggcttgc
aaacgcctggtctccatgaacatgcctctgaacagcgacgggacagtcatgttcaatgcc
accctgtttgccctggtcaggacggccctgaggatcaaaacagaagggaacctagaacaa
gccaatgaggagctgcgggcgatcatcaagaagatctggaagcggaccagcatgaagctg
ctggaccaggtggtgccccctgcaggtgatgatgaggtcaccgttggcaagttctacgcc
acgttcctgatccaggagtacttccggaagttcaagaagcgcaaagagcagggccttgtg
ggcaagccctcccagaggaacgcgctgtctctgcaggctggcttgcgcacactgcatgac
atcgggcctgagatccgacgggccatctctggagatctcaccgctgaggaggagctggac
aaggccatgaaggaggctgtgtccgctgcttctgaagatgacatcttcaggagggccggt
ggcctgttcggcaaccacgtcagctactaccaaagcgacggccggagcgccttcccccag
accttcaccactcagcgcccgctgcacatcaacaaggcgggcagcagccagggcgacact
gagtcgccatcccacgagaagctggtggactccaccttcaccccgagcagctactcgtcc
accggctccaacgccaacatcaacaacgccaacaacaccgccctgggtcgcctccctcgc
cccgccggctaccccagcacggtcagcactgtggagggccacgggccccccttgtcccct
gccatccgggtgcaggaggtggcgtggaagctcagctccaacaggtgccactcccgggag
agccaggcagccatggcgggtcaggaggagacgtctcaggatgagacctatgaagtgaag
atgaaccatgacacggaggcctgcagtgagcccagcctgctctccacagagatgctctcc
taccaggatgacgaaaatcggcaactgacgctcccagaggaggacaagagggacatccgg
caatctccgaagaggggtttcctccgctctgcctcactaggtcgaagggcctccttccac
ctggaatgtctgaagcgacagaaggaccgagggggagacatctctcagaagacagtcctg
cccttgcatctggttcatcatcaggcattggcagtggcaggcctgagccccctcctccag
agaagccattcccctgcctcattccctaggccttttgccaccccaccagccacacctggc
agccgaggctggcccccacagcccgtccccaccctgcggcttgagggggtcgagtccagt
gagaaactcaacagcagcttcccatccatccactgcggctcctgggctgagaccaccccc
ggtggcgggggcagcagcgccgcccggagagtccggcccgtctccctcatggtgcccagc
caggctggggccccagggaggcagttccacggcagtgccagcagcctggtggaagcggtc
ttgatttcagaaggactggggcagtttgctcaagatcccaagttcatcgaggtcaccacc
caggagctggccgacgcctgcgacatgaccatagaggagatggagagcgcggccgacaac
atcctcagcgggggcgccccacagagccccaatggcgccctcttaccctttgtgaactgc
agggacgcggggcaggaccgagccgggggcgaagaggacgcgggctgtgtgcgcgcgcgg
ggtcgaccgagtgaggaggagctccaggacagcagggtctacgtcagcagcctgtag

Protein Sequence

>775 : length: 2138
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKMTAYGAFLH
KGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVLRVLRPLRAINRAKGLKHVVQ
CVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSDSSKQTEAECKGNYITYKDGE
VDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRV
EISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNCELDKNQRQCVEYALKARPLR
RYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQHYGQSCLFKIAMNILNMLFTG
LFTVEMILKLIAFKPKHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEEN
SRISITFFRLFRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQ
VFGKIALNDTTEINRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNS
TEGETPCGSSFAVFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRI
WAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNA
TLFALVRTALRIKTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYA
TFLIQEYFRKFKKRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELD
KAMKEAVSAASEDDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDT
ESPSHEKLVDSTFTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSP
AIRVQEVAWKLSSNRCHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLS
YQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVL
PLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPATPGSRGWPPQPVPTLRLEGVESS
EKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLMVPSQAGAPGRQFHGSASSLVEAV
LISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESAADNILSGGAPQSPNGALLPFVNC
RDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSSL



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