Male Infertility Database

Search Result

Gene id

773

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

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
MINT:
STRING:	ENSP00000353362

Other Databases

GeneCards: CACNA1A Malacards: CACNA1A

Gene ontology

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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 amyl oid-beta	IDA	biological process
GO:0008331	high voltage-gated calciu m channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium cha nnel activity	IGI	molecular function
GO:0008331	high voltage-gated calciu m channel activity	IMP	molecular function
GO:0050804	modulation of chemical sy naptic transmission	IDA	biological process
GO:1904646	cellular response to amyl oid-beta	IGI	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005245	voltage-gated calcium cha nnel activity	IBA	molecular function
GO:0006816	calcium ion transport	IBA	biological process
GO:0007268	chemical synaptic transmi ssion	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0008331	high voltage-gated calciu m 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 calciu m channel activity	IDA	molecular function
GO:0005245	voltage-gated calcium cha nnel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium cha nnel 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 mem brane	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 transme mbrane 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 sec retion	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 cy tosolic calcium ion conce ntration	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005245	voltage-gated calcium cha nnel activity	IDA	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0005245	voltage-gated calcium cha nnel 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 mem brane	TAS	cellular component
GO:0016021	integral component of mem brane	NAS	cellular component

KEGG pathways

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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

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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

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
17327269	Teratozoos permia	13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
21674046	Aberrant C pGs in Low Motility Sperm	18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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