• Gene id: 8913

Gene Summary

• Gene Symbol: CACNA1G   Gene   UCSC   Ensembl
• Aliases: Ca(V)T.1, Cav3.1, NBR13, SCA42, SCA42ND
• Gene name: calcium voltage-gated channel subunit alpha1 G
• Alternate names: voltage-dependent T-type calcium channel subunit alpha-1G, calcium channel, voltage-dependent, T type, alpha 1G subunit, cav3.1c, voltage-dependent T-type calcium channel alpha 1G subunit, voltage-dependent calcium channel alpha 1G subunit, voltage-gated calci,
• Gene location: 17q21.33 (50560714: 50629624)     Exons: 38     NC_000017.11
• Gene summary(Entrez): Voltage-sensitive 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, gene expression, cell motility
• OMIM: 604065

Protein Summary

• Protein general information: O43497  
  • Name: Voltage dependent T type calcium channel subunit alpha 1G (Cav3.1c) (NBR13) (Voltage gated calcium channel subunit alpha Cav3.1)
  • Length: 2377  
  • Mass: 262472
  • Tissue specificity: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral ce
• Sequence:

  MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRPRSWCL
  RTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALGIFGKKCYLGD
  TWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIF
  GIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGL
  DYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIMYFVMDAHSFYNFIYF
  ILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNASTLASFSEPGSCYEELLKYLVYILRKAARR
  LAQVSRAAGVRVGLLSSPAPLGGQETQPSSSCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRD
  ANGSRRLMLPPPSTPALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPE
  TLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSGACGPDSCPYCARAGA
  GEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDAEPSSVLAFWRLICDTFRKIVDSKYFGRGIM
  IAILVNTLSMGIEYHEQPEELTNALEISNIVFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQ
  QGGGLSVLRTFRLMRVLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTL
  PDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLVAILVEGFQAEEISKR
  EDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCLALVSLGEHPELRKSLLPPLIIHTAATPMSL
  PKSTSTGLGEALGPASRRTSSSGSAEPGAAHEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPS
  GERRSLLSGEGQESQDEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCN
  GKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFPPQSRFRLLCHRIITH
  KMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAVFLAEMTVKVVALGWCFGEQAYLRSSWNVLD
  GLLVLISVIDILVSMVSDSGTKILGMLRVLRLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFII
  FGILGVQLFKGKFFVCQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVG
  VDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRLRRLEKKRRNLMLDDV
  IASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGVIGLNVVTMAMEHYQQPQILDEALKICNYIF
  TVIFVLESVFKLVAFGFRRFFQDRWNQLDLAIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKM
  AVGMRALLDTVMQALPQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVST
  GDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKEAKEEAELEAELELEM
  KTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASHFSLEHPTDRQLFDTISLLIQGSLEWELKLM
  DELAGPGGQPSAFPSAPSLGGSDPQIPLAEMEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHP
  TELPGPDLLTVRKSGVSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP
  HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPSPPLARAYSFWGQSST
  QAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTELSWISGDLLPPGGQEEPPSPRDLKKCYSVE
  AQSCQRRPTSWLDEQRRHSIAVSCLDSGSQPHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPP
  SPGICLRRRAPSSDSKDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP

• Structural information:
  • Interpro: IPR005821  IPR005445  IPR002077  IPR027359  
  • PDB: 6KZO 6KZP
  • PDBsum: 6KZO 6KZP
  • STRING: ENSP00000352011
• Other Databases: GeneCards:  CACNA1G  Malacards:  CACNA1G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0005261	cation channel activity	IBA	molecular function
GO:0008332	low voltage-gated calcium channel activity	IBA	molecular function
GO:0019228	neuronal action potential	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0070509	calcium ion import	IBA	biological process
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0008332	low voltage-gated calcium channel activity	IDA	molecular function
GO:0008332	low voltage-gated calcium channel activity	IDA	molecular function
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
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:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential	IEA	molecular function
GO:0086018	SA node cell to atrial cardiac muscle cell signaling	IEA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IEA	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IEA	biological process
GO:0008332	low voltage-gated calcium channel activity	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0001508	action potential	IEA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IEA	biological process
GO:0086056	voltage-gated calcium channel activity involved in AV node cell action potential	IEA	molecular function
GO:0086046	membrane depolarization during SA node cell action potential	IEA	biological process
GO:0086045	membrane depolarization during AV node cell action potential	IEA	biological process
GO:0086027	AV node cell to bundle of His cell signaling	IEA	biological process
GO:0086016	AV node cell action potential	IEA	biological process
GO:0086015	SA node cell action potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0010045	response to nickel cation	IEA	biological process
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002027	regulation of heart rate	IEA	biological process
GO:0008332	low voltage-gated calcium channel activity	IDA	molecular function
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0070509	calcium ion import	IDA	biological process
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential	ISS	molecular function
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0086056	voltage-gated calcium channel activity involved in AV node cell action potential	ISS	molecular function
GO:0086018	SA node cell to atrial cardiac muscle cell signaling	ISS	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	ISS	biological process
GO:0086015	SA node cell action potential	ISS	biological process
GO:0086016	AV node cell action potential	ISS	biological process
GO:0086027	AV node cell to bundle of His cell signaling	ISS	biological process
GO:0086045	membrane depolarization during AV node cell action potential	ISS	biological process
GO:0086046	membrane depolarization during SA node cell action potential	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	ISS	biological process
GO:0005891	voltage-gated calcium channel complex	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04020	Calcium signaling pathway
hsa04934	Cushing syndrome
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04930	Type II diabetes mellitus

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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