• Gene id: 773

Gene Summary

• Gene Symbol: CACNA1A   Gene   UCSC   Ensembl
• Aliases: APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
• Gene name: calcium voltage-gated channel subunit alpha1 A
• Alternate names: voltage-dependent P/Q-type calcium channel subunit alpha-1A, brain calcium channel 1, brain calcium channel I, calcium channel, L type, alpha-1 polypeptide, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, fetal brain Ca2+ voltage-gated channel ,
• Gene location: 19p13.13 (13506478: 13206441)     Exons: 11     NC_000019.10
• Gene summary(Entrez): Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c
• OMIM: 601011

SNPs

rs2231829

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

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs11594

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

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

Protein Summary

• Protein general information: O00555  
  • Name: Voltage dependent P/Q type calcium channel subunit alpha 1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha 1 polypeptide isoform 4) (Voltage gated calcium channel subunit alpha Cav2.1)
  • Length: 2506  
  • Mass: 282564
  • Tissue specificity: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P
• Sequence:

  MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMALYNPIPVRQNCLTVN
  RSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQHLPDDDKTPMSERLDDTEPYFIGIFCFEAGI
  KIIALGFAFHKGSYLRNGWNVMDFVVVLTGILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIP
  LLQIGLLLFFAILIFAIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
  FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRA
  FLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDALRRTTIKKSKTDLLNPEEAEDQLADIASVGS
  PFARASIKSAKLENSTFFHKKERRMRFYIRRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIF
  LGLFMSEMFIKMYGLGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
  NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTVFQILTGEDWNEVMYD
  GIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEEEAANQKLALQKAKEVAEVSP
  LSAANMSIAVKEQQKNQKPAKSVWEQRTSEMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVV
  DPQENRNNNTNKSRAAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
  SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRAHRRPGEEGPEDKAER
  RARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARREDKERRHRRRKENQGSGVPVSGPNLSTTRPI
  QQDLGRQDPPLAEDIDNMKNNKLATAESAAPHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTP
  NNPGNPSNPGPPKTPENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
  KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIALAAEDPVQPNAPRNNV
  LRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVVSGALVAFAFTGNSKGKDINTIKSLRVLRVL
  RPLKTIKRLPKLKAVFDCVVNSLKNVFNILIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEK
  NEVKARDREWKKYEFHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
  FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQFVVSPPFEYTIMAMI
  ALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFGILNYFRDAWNIFDFVTVLGSITDILVTEFG
  NNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDS
  DEDEFQITEHNNFRTFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
  MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSPPLGLGKKCPARVAYK
  RLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDAELRKEMMAIWPNLSQKTLDLLVTPHKSTDL
  TVGKIYAAMMIMEYYRQSKAKKLQAMREEQDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLK
  ESPSWVTQRAQEMFQKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
  QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSHRASERSLGRYTDVDT
  GLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHPPPPDKDRYAQERPDHGRARARDQRWSRSPS
  EGREHMAHRQGSSSVSGSPAPSTSGTSTPRRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQ
  AVARPGRAATSGPRRYPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
  PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPACASPSRHGRRLPNG
  YYPAHGLARPRGPGSRKGLHEPYSESDDDWC

• Structural information:
  • Interpro: IPR005448  IPR031649  IPR005821  IPR014873  IPR002077   IPR027359  
  • PDB: 3BXK
  • PDBsum: 3BXK
  • STRING: ENSP00000353362
• Other Databases: GeneCards:  CACNA1A  Malacards:  CACNA1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IC	molecular function
GO:1904645	response to amyloid-beta	IDA	biological process
GO:1904645	response to amyloid-beta	IDA	biological process
GO:1904646	cellular response to amyloid-beta	IDA	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium channel activity	IGI	molecular function
GO:0008331	high voltage-gated calcium channel activity	IMP	molecular function
GO:0050804	modulation of chemical synaptic transmission	IDA	biological process
GO:1904646	cellular response to amyloid-beta	IGI	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0006816	calcium ion transport	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0008331	high voltage-gated calcium channel activity	IDA	molecular function
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:0005262	calcium channel activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0051899	membrane depolarization	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: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:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0019905	syntaxin binding	IDA	molecular function
GO:0008219	cell death	IDA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04020	Calcium signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04725	Cholinergic synapse
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle
hsa04742	Taste transduction
hsa04730	Long-term depression
hsa04930	Type II diabetes mellitus
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Spinocerebellar ataxia	KEGG:H00063
Episodic ataxias	KEGG:H00749
Hemiplegic migraine	KEGG:H00775
Hemiconvulsion-hemiplegia-epilepsy syndrome	KEGG:H01808
Early infantile epileptic encephalopathy	KEGG:H00606
Spinocerebellar ataxia	KEGG:H00063
Episodic ataxias	KEGG:H00749
Hemiplegic migraine	KEGG:H00775
Hemiconvulsion-hemiplegia-epilepsy syndrome	KEGG:H01808
Episodic ataxia type 2	PMID:14530926
migraine with aura	PMID:10408532
Migraine	PMID:24108129
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq