• Gene id: 775

Gene Summary

• Gene Symbol: CACNA1C   Gene   UCSC   Ensembl
• Aliases: CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, TS. LQT8
• Gene name: calcium voltage-gated channel subunit alpha1 C
• Alternate names: voltage-dependent L-type calcium channel subunit alpha-1C, DHPR, alpha-1 subunit, calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle, calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit, calcium channel, voltage-dependent, ,
• Gene location: 12p13.33 (37934606: 37997540)     Exons: 16     NC_000015.10
• Gene summary(Entrez): This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through
• OMIM: 114205

SNPs

rs2126986

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.56317795A>G
NC_000016.9   g.56351707A>G
NG_042800.1   g.131457A>G|SEQ=[A/G]|GENE=GNAO1

Protein Summary

• Protein general information: Q13936  
  • Name: Voltage dependent L type calcium channel subunit alpha 1C (Calcium channel, L type, alpha 1 polypeptide, isoform 1, cardiac muscle) (Voltage gated calcium channel subunit alpha Cav1.2)
  • Length: 2221  
  • Mass: 248977
  • Tissue specificity: Detected throughout the brain, including hippocampus, cerebellum and amygdala, throughout the heart and vascular system, including ductus arteriosus, in urinary bladder, and in retina and sclera in the eye (PubMed
• Sequence:

  MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAARQAKLMGSAGNATIST
  VSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISIVEWKPFEIIILLTIFANCVALAIYIPFPED
  DSNATNSNLERVEYLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALG
  GKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
  QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCITMEGWTDVLYWVNDA
  VGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKLREKQQLEEDLKGYLDWITQAEDIDPE
  NEDEGMDEEKPRNMSMPTSETESVNTENVAGGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNV
  FYWLVIFLVFLNTLTIASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
  LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFLFIIIFSLLGMQLFGG
  KFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYGGPSFPGMLVCIYFIILFICGNYILLNVFLA
  IAVDNLADAESLTSAQKEEEEEKERKKLARTASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDD
  LQPNENEDKSPYPNPETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
  IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVFTSIFTLEIILKMTAY
  GAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIG
  NIVIVTTLLQFMFACIGVQLFKGKLYTCSDSSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAM
  MALFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
  ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQHYGQSCLFKIAMNILN
  MLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVILSETNHYFCDAWNTFDALIVVGSIVDIAITE
  VNPAEHTQCSPSMNAEENSRISITFFRLFRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVI
  GMQVFGKIALNDTTEINRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
  VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRIKHLDVVTLLRRIQPP
  LGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRIKTEGNLEQANEELRAIIKKIWKRTSMKLLD
  QVVPPAGDDEVTVGKFYATFLIQEYFRKFKKRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEE
  ELDKAMKEAVSAASEDDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
  FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLSSNRERHVPMCEDLEL
  RRDSGSAGTQAHCLLLRKANPSRCHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLSYQDDENR
  QLTLPEEDKRDIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRS
  HSPASFPRPFATPPATPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
  VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESAADNILSGGAPQSPNG
  ALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSSL

• Structural information:
  • Interpro: IPR031688  IPR031649  IPR005821  IPR014873  IPR005451   IPR005446  IPR002077  IPR027359  
  • PDB: 1T0J 2BE6 2F3Y 2F3Z 2LQC 3G43 3OXQ 5V2P 5V2Q 6C0A 6DAD 6DAE 6DAF
  • PDBsum: 1T0J 2BE6 2F3Y 2F3Z 2LQC 3G43 3OXQ 5V2P 5V2Q 6C0A 6DAD 6DAE 6DAF
  • DIP: 29589
  • STRING: ENSP00000266376
• Other Databases: GeneCards:  CACNA1C  Malacards:  CACNA1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008331	high voltage-gated calcium channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0006816	calcium ion transport	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0061337	cardiac conduction	IMP	biological process
GO:0005245	voltage-gated calcium channel activity	IMP	molecular function
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0045762	positive regulation of adenylate cyclase activity	ISS	biological process
GO:0070588	calcium ion transmembrane transport	IMP	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	IDA	biological process
GO:1990454	L-type voltage-gated calcium channel complex	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0086056	voltage-gated calcium channel activity involved in AV node cell action potential	IMP	molecular function
GO:0043010	camera-type eye development	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0098911	regulation of ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	molecular function
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0002520	immune system development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086045	membrane depolarization during AV node cell action potential	IMP	biological process
GO:0051393	alpha-actinin binding	IPI	molecular function
GO:0008331	high voltage-gated calcium channel activity	TAS	contributes to
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	biological process
GO:0035585	calcium-mediated signaling using extracellular calcium source	TAS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0060402	calcium ion transport into cytosol	TAS	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	contributes to
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0098912	membrane depolarization during atrial cardiac muscle cell action potential	IMP	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0014069	postsynaptic density	IDA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04010	MAPK signaling pathway
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04726	Serotonergic synapse
hsa04727	GABAergic synapse
hsa04260	Cardiac muscle contraction
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa04742	Taste transduction
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa04924	Renin secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04930	Type II diabetes mellitus

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Brugada syndrome	KEGG:H00728
Long QT syndrome	KEGG:H00720
Brugada syndrome	KEGG:H00728
Timothy syndrome	PMID:15863612
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq