CACNA1I
entrez
8911
canonical
uniprot
Q9P0X4
canonical
ensembl
ENSG00000100346
resolver
ensp
ENSP00000384093
resolver
ensp
ENSP00000385019
resolver
genesymbol
CACNA1I
resolver
genesymbol_syn
KIAA1120
resolver
hgnc
HGNC:1396
resolver
uniprot
B0QY12
resolver
uniprot
B0QY13
resolver
uniprot
B0QY14
resolver
uniprot
O95504
resolver
uniprot
Q5JZ88
resolver
uniprot
Q7Z6S9
resolver
uniprot
Q8NFX6
resolver
uniprot
Q9NZC8
resolver
uniprot
Q9UH15
resolver
uniprot
Q9UH30
resolver
uniprot
Q9ULU9
resolver
uniprot
Q9UNE6
resolver
uniprot_entry
CAC1I_HUMAN
resolver
uniprot_sec
B0QY12
resolver
uniprot_sec
B0QY13
resolver
uniprot_sec
B0QY14
resolver
uniprot_sec
O95504
resolver
uniprot_sec
Q5JZ88
resolver
uniprot_sec
Q7Z6S9
resolver
uniprot_sec
Q8NFX6
resolver
uniprot_sec
Q9NZC8
resolver
uniprot_sec
Q9UH15
resolver
uniprot_sec
Q9UH30
resolver
uniprot_sec
Q9ULU9
resolver
uniprot_sec
Q9UNE6
resolver
amino_acid_sequence
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFFCLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDDFIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTVRVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGIIGVQLWAGLLRNRCFLEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDVYDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWVEIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYLSSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPHAKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELCPQHSPLDATPHTLVQPIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDGASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIEHHEQPEELTNILEICNVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIVGQADGGLSVLRTFRLLRVLKLVRFMPALRRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSPWASLYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGDPKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRMSYDQRSLSSSRSSYYGPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEVAADEGPPRAAPLHTPHAHHIHHGPHLAHRHRHHRRTLSLDNRDSVDLAELVPAVGAHPRAAWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYTLCFRVRKMIDVYKPDWCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTERIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIFGILGVQLFKGKFYHCLGVDTRNITNRSDCMAANYRWVHHKYNFDNLGQALMSLFVLASKDGWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLNVVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVLLSVMGITLEEIEINAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGKLVCNDENPCEGMSRHATFENFGMAFLTLFQVSTGDNWNGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVVVAVLMKHLDDSNKEAQEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQENLWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNSDRSSSILLGDDLSLEDPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPENFLCEMEEIPFNPVRSWLKHDSSQAPPSPFSPDASSPLLPMPAEFFHPAVSASQKGPEKGTGTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSAGSLQTTLEDSLTLSDSPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHHDSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLAAPGRPHAAALAHGLARSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASKRKR
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114]: An autosomal dominant disorder with variable manifestations. Severely affected individuals have profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. Some patients manifest a milder phenotype characterized by mild to moderate cognitive impairment and mild speech delay, usually without seizures. {ECO:0000269|PubMed:33704440}. 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. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels 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. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H. {ECO:0000269|PubMed:33704440}.; FUNCTION: [Isoform 3]: 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. This channel gives rise to T-type calcium currents. {ECO:0000269|PubMed:10749850}.; FUNCTION: [Isoform 4]: 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. This channel gives rise to T-type calcium currents. {ECO:0000269|PubMed:12080115}.
uniprot
proteins
mass_dalton
245103
uniprot
proteins
post_translational_modification
PTM: In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II. {ECO:0000250}.
uniprot
proteins
protein_family
CACNA1I subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
10454147
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10749850
uniprot
proteins
pubmed
12080115
uniprot
proteins
pubmed
16740636
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
33704440
uniprot
proteins
sequence_length
2223
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 79..99; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 121..141; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 149..168; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 174..191; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 212..232; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 378..398; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 641..661; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 677..697; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 703..721; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 730..753; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 765..785; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 842..862; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 1167..1187; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1210..1230; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1245..1265; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1273..1294; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1305..1325; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1411..1431; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1486..1506; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1523..1543; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1557..1577; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1584..1607; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1622..1642; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1710..1730; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins