CACNA1G
entrez
8913
canonical
uniprot
O43497
canonical
ensembl
ENSG00000006283
resolver
ensp
ENSP00000339302
resolver
ensp
ENSP00000347078
resolver
ensp
ENSP00000350979
resolver
ensp
ENSP00000352011
resolver
ensp
ENSP00000353990
resolver
ensp
ENSP00000409759
resolver
ensp
ENSP00000414388
resolver
ensp
ENSP00000420918
resolver
ensp
ENSP00000421518
resolver
ensp
ENSP00000422268
resolver
ensp
ENSP00000422407
resolver
ensp
ENSP00000423045
resolver
ensp
ENSP00000423112
resolver
ensp
ENSP00000423155
resolver
ensp
ENSP00000423317
resolver
ensp
ENSP00000425451
resolver
ensp
ENSP00000425522
resolver
ensp
ENSP00000425698
resolver
ensp
ENSP00000426098
resolver
ensp
ENSP00000426172
resolver
ensp
ENSP00000426232
resolver
ensp
ENSP00000426261
resolver
ensp
ENSP00000426814
resolver
ensp
ENSP00000427173
resolver
ensp
ENSP00000427238
resolver
genesymbol
CACNA1G
resolver
genesymbol_syn
KIAA1123
resolver
hgnc
HGNC:1394
resolver
uniprot
D6RA64
resolver
uniprot
E7EPR0
resolver
uniprot
O43498
resolver
uniprot
O94770
resolver
uniprot
Q19QY8
resolver
uniprot
Q19QY9
resolver
uniprot
Q19QZ0
resolver
uniprot
Q19QZ1
resolver
uniprot
Q19QZ2
resolver
uniprot
Q19QZ3
resolver
uniprot
Q19QZ4
resolver
uniprot
Q19QZ5
resolver
uniprot
Q19QZ6
resolver
uniprot
Q19QZ7
resolver
uniprot
Q19QZ8
resolver
uniprot
Q19QZ9
resolver
uniprot
Q19R00
resolver
uniprot
Q19R01
resolver
uniprot
Q19R02
resolver
uniprot
Q19R03
resolver
uniprot
Q19R04
resolver
uniprot
Q19R05
resolver
uniprot
Q19R06
resolver
uniprot
Q19R07
resolver
uniprot
Q19R08
resolver
uniprot
Q19R09
resolver
uniprot
Q19R10
resolver
uniprot
Q19R11
resolver
uniprot
Q19R12
resolver
uniprot
Q19R13
resolver
uniprot
Q19R15
resolver
uniprot
Q19R16
resolver
uniprot
Q19R17
resolver
uniprot
Q19R18
resolver
uniprot
Q2TAC4
resolver
uniprot
Q9NYU4
resolver
uniprot
Q9NYU5
resolver
uniprot
Q9NYU6
resolver
uniprot
Q9NYU7
resolver
uniprot
Q9NYU8
resolver
uniprot
Q9NYU9
resolver
uniprot
Q9NYV0
resolver
uniprot
Q9NYV1
resolver
uniprot
Q9UHN9
resolver
uniprot
Q9UHP0
resolver
uniprot
Q9ULU6
resolver
uniprot
Q9UNG7
resolver
uniprot
Q9Y5T2
resolver
uniprot
Q9Y5T3
resolver
uniprot_entry
CAC1G_HUMAN
resolver
uniprot_sec
D6RA64
resolver
uniprot_sec
E7EPR0
resolver
uniprot_sec
O43498
resolver
uniprot_sec
O94770
resolver
uniprot_sec
Q19QY8
resolver
uniprot_sec
Q19QY9
resolver
uniprot_sec
Q19QZ0
resolver
uniprot_sec
Q19QZ1
resolver
uniprot_sec
Q19QZ2
resolver
uniprot_sec
Q19QZ3
resolver
uniprot_sec
Q19QZ4
resolver
uniprot_sec
Q19QZ5
resolver
uniprot_sec
Q19QZ6
resolver
uniprot_sec
Q19QZ7
resolver
uniprot_sec
Q19QZ8
resolver
uniprot_sec
Q19QZ9
resolver
uniprot_sec
Q19R00
resolver
uniprot_sec
Q19R01
resolver
uniprot_sec
Q19R02
resolver
uniprot_sec
Q19R03
resolver
uniprot_sec
Q19R04
resolver
uniprot_sec
Q19R05
resolver
uniprot_sec
Q19R06
resolver
uniprot_sec
Q19R07
resolver
uniprot_sec
Q19R08
resolver
uniprot_sec
Q19R09
resolver
uniprot_sec
Q19R10
resolver
uniprot_sec
Q19R11
resolver
uniprot_sec
Q19R12
resolver
uniprot_sec
Q19R13
resolver
uniprot_sec
Q19R15
resolver
uniprot_sec
Q19R16
resolver
uniprot_sec
Q19R17
resolver
uniprot_sec
Q19R18
resolver
uniprot_sec
Q2TAC4
resolver
uniprot_sec
Q9NYU4
resolver
uniprot_sec
Q9NYU5
resolver
uniprot_sec
Q9NYU6
resolver
uniprot_sec
Q9NYU7
resolver
uniprot_sec
Q9NYU8
resolver
uniprot_sec
Q9NYU9
resolver
uniprot_sec
Q9NYV0
resolver
uniprot_sec
Q9NYV1
resolver
uniprot_sec
Q9UHN9
resolver
uniprot_sec
Q9UHP0
resolver
uniprot_sec
Q9ULU6
resolver
uniprot_sec
Q9UNG7
resolver
uniprot_sec
Q9Y5T2
resolver
uniprot_sec
Q9Y5T3
resolver
amino_acid_sequence
MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVVFFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAFDDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGLDYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIMYFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNASTLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSSSCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTPALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPETLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSGACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDAEPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEELTNALEISNIVFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMRVLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTLPDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLVAILVEGFQAEEISKREDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCLALVSLGEHPELRKSLLPPLIIHTAATPMSLPKSTSTGLGEALGPASRRTSSSGSAEPGAAHEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPSGERRSLLSGEGQESQDEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCNGKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFPPQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAVFLAEMTVKVVALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVLRLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFVCQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVGVDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRLRRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGVIGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDLAIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQALPQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVSTGDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKEAKEEAELEAELELEMKTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASHFSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQPSAFPSAPSLGGSDPQIPLAEMEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPGPDLLTVRKSGVSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAPHLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPSPPLARAYSFWGQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTELSWISGDLLPPGGQEEPPSPRDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQPHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPPSPGICLRRRAPSSDSKDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 42 (SCA42) [MIM:616795]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. {ECO:0000269|PubMed:26456284, ECO:0000269|PubMed:26715324}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42ND is an early-onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant. {ECO:0000269|PubMed:29878067}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-sensitive calcium channels (VSCC) 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, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. {ECO:0000269|PubMed:10648811, ECO:0000269|PubMed:26456284, ECO:0000269|PubMed:26715324, ECO:0000269|PubMed:29878067}.; FUNCTION: [Isoform 2]: Voltage-sensitive calcium channels (VSCC) 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, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. {ECO:0000269|PubMed:10692398}.
uniprot
proteins
mass_dalton
262472
uniprot
proteins
post_translational_modification
PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
uniprot
proteins
protein_family
CACNA1G subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
10493502
uniprot
proteins
pubmed
10548410
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10648811
uniprot
proteins
pubmed
10692398
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16671074
uniprot
proteins
pubmed
26456284
uniprot
proteins
pubmed
26715324
uniprot
proteins
pubmed
29878067
uniprot
proteins
pubmed
9495342
uniprot
proteins
sequence_length
2377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26715324}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:26715324}.
uniprot
proteins
transmembrane_region
TRANSMEM 81..101; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 120..141; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 151..170; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 176..193; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 371..395; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 744..764; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 778..799; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 806..824; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 833..856; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 868..888; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 940..964; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 1273..1295; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1314..1334; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1345..1364; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1379..1400; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1411..1434; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1512..1537; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1611..1631; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1646..1667; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1675..1693; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1708..1731; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1746..1766; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1827..1854; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins