CACNA1H
entrez
8912
canonical
uniprot
O95180
canonical
ensembl
ENSG00000196557
resolver
ensp
ENSP00000334198
resolver
ensp
ENSP00000454581
resolver
ensp
ENSP00000454990
resolver
ensp
ENSP00000455840
resolver
ensp
ENSP00000457555
resolver
ensp
ENSP00000491945
resolver
ensp
ENSP00000492650
resolver
ensp
ENSP00000518754
resolver
ensp
ENSP00000518759
resolver
ensp
ENSP00000518763
resolver
ensp
ENSP00000518773
resolver
ensp
ENSP00000518776
resolver
enst
ENST00000562079
resolver
enst
ENST00000564231
resolver
enst
ENST00000569107
resolver
enst
ENST00000639478
resolver
enst
ENST00000711451
resolver
enst
ENST00000711487
resolver
genesymbol
CACNA1H
resolver
hgnc
HGNC:1395
resolver
uniprot
A0A1W2PQW2
resolver
uniprot
A0AAA9YHH8
resolver
uniprot
B3KQH9
resolver
uniprot
B5ME00
resolver
uniprot
F8WFD1
resolver
uniprot
H3BMW6
resolver
uniprot
H3BNT0
resolver
uniprot
H3BUA8
resolver
uniprot
O95802
resolver
uniprot
Q8WWI6
resolver
uniprot
Q96QI6
resolver
uniprot
Q96RZ9
resolver
uniprot
Q9NYY4
resolver
uniprot
Q9NYY5
resolver
uniprot_entry
A0A1W2PQW2_HUMAN
resolver
uniprot_entry
A0AAA9YHH8_HUMAN
resolver
uniprot_entry
B3KQH9_HUMAN
resolver
uniprot_entry
CAC1H_HUMAN
resolver
uniprot_entry
H3BMW6_HUMAN
resolver
uniprot_entry
H3BNT0_HUMAN
resolver
uniprot_entry
H3BUA8_HUMAN
resolver
uniprot_sec
B5ME00
resolver
uniprot_sec
F8WFD1
resolver
uniprot_sec
O95802
resolver
uniprot_sec
Q8WWI6
resolver
uniprot_sec
Q96QI6
resolver
uniprot_sec
Q96RZ9
resolver
uniprot_sec
Q9NYY4
resolver
uniprot_sec
Q9NYY5
resolver
activity_regulation
ACTIVITY REGULATION: Channel activity is strongly inhibited by mibefradil (PubMed:9670923, PubMed:9930755). Channel activity is strongly inhibited by Ni(2+) ions (PubMed:9930755). {ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755}.
uniprot
proteins
amino_acid_sequence
MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGAELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMFRPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVVAGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQKCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAINFDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYARWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPGPEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAASLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKIPHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESGDSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWVTFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEMLLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPALRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCTAATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSSRRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLDPRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEPYKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDPGSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIVVAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAFFIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVLSSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLDLFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDRWNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLTLFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLMKHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVSVSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQIPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEPGEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAELGSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRTPSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDPFLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPSATPAPGGGADDPV
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:15048902}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Epilepsy, childhood absence 6 (ECA6) [MIM:611942]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269|PubMed:12891677, ECO:0000269|PubMed:24277868, ECO:0000269|PubMed:30197081}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027]: A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. {ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27729216}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:27149520, PubMed:9670923, PubMed:9930755). 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 (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216). {ECO:0000269|PubMed:24277868, ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755, ECO:0000305, ECO:0000305|PubMed:15048902}.
uniprot
proteins
mass_dalton
259163
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
CACNA1H subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
11751928
uniprot
proteins
pubmed
12891677
uniprot
proteins
pubmed
15048902
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19940152
uniprot
proteins
pubmed
24277868
uniprot
proteins
pubmed
25907736
uniprot
proteins
pubmed
26637798
uniprot
proteins
pubmed
27149520
uniprot
proteins
pubmed
27729216
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28501589
uniprot
proteins
pubmed
30197081
uniprot
proteins
pubmed
36073542
uniprot
proteins
pubmed
9670923
uniprot
proteins
pubmed
9930755
uniprot
proteins
sequence_length
2353
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755}; Multi-pass membrane protein {ECO:0000305}. Note=Interaction with STAC increases expression at the cell membrane. {ECO:0000269|PubMed:27149520}.
uniprot
proteins
transmembrane_region
TRANSMEM 101..119; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 142..160; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 170..184; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 194..212; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 233..253; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 395..419; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 794..814; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 828..849; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 856..874; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 883..906; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 918..938; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 991..1015; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 1291..1313; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1332..1352; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1363..1382; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1397..1418; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1429..1452; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1530..1555; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1617..1637; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1652..1673; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1681..1699; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1714..1737; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1752..1772; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1836..1863; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins