UniProtKB - O95180 (CAC1H_HUMAN)
Protein
Voltage-dependent T-type calcium channel subunit alpha-1H
Gene
CACNA1H
Organism
Homo sapiens (Human)
Status
Functioni
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:9670923, PubMed:9930755, PubMed:27149520). 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).Curated6 Publications
Activity regulationi
Channel activity is strongly inhibited by mibefradil (PubMed:9670923, PubMed:9930755). Channel activity is strongly inhibited by Ni2+ ions (PubMed:9930755).2 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 140 | Zinc | 1 | |
Metal bindingi | 189 | Zinc | 1 | |
Metal bindingi | 191 | Zinc | 1 | |
Sitei | 378 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 974 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1504 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1808 | Calcium ion selectivity and permeabilityBy similarity | 1 |
GO - Molecular functioni
- cation channel activity Source: GO_Central
- low voltage-gated calcium channel activity Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
- scaffold protein binding Source: BHF-UCL
- voltage-gated ion channel activity Source: UniProtKB
- voltage-gated sodium channel activity Source: GO_Central
GO - Biological processi
- aldosterone biosynthetic process Source: UniProtKB
- calcium ion import Source: BHF-UCL
- cellular response to hormone stimulus Source: UniProtKB
- cellular response to potassium ion Source: UniProtKB
- cortisol biosynthetic process Source: UniProtKB
- inorganic cation transmembrane transport Source: UniProtKB
- membrane depolarization during action potential Source: GO_Central
- muscle contraction Source: ProtInc
- muscle organ development Source: ProtInc
- myoblast fusion Source: ProtInc
- neuronal action potential Source: GO_Central
- positive regulation of acrosome reaction Source: UniProtKB
- positive regulation of calcium ion-dependent exocytosis Source: GO_Central
- regulation of heart contraction Source: ProtInc
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of membrane potential Source: BHF-UCL
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium, Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | O95180 |
Reactomei | R-HSA-419037, NCAM1 interactions |
Protein family/group databases
TCDBi | 1.A.1.11.5, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent T-type calcium channel subunit alpha-1HAlternative name(s): Low-voltage-activated calcium channel alpha1 3.2 subunit Voltage-gated calcium channel subunit alpha Cav3.2 |
Gene namesi | Name:CACNA1HImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000196557.10 |
HGNCi | HGNC:1395, CACNA1H |
MIMi | 607904, gene |
neXtProti | NX_O95180 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein Curated
Note: Interaction with STAC increases expression at the cell membrane.1 Publication
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: GO_Central
- voltage-gated calcium channel complex Source: ProtInc
- voltage-gated sodium channel complex Source: GO_Central
Other locations
- integral component of membrane Source: BHF-UCL
- neuron projection Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 100 | CytoplasmicSequence analysisAdd BLAST | 100 | |
Transmembranei | 101 – 119 | Helical; Name=S1 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 120 – 141 | ExtracellularSequence analysisAdd BLAST | 22 | |
Transmembranei | 142 – 160 | Helical; Name=S2 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 161 – 169 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 170 – 184 | Helical; Name=S3 of repeat ISequence analysisAdd BLAST | 15 | |
Topological domaini | 185 – 193 | ExtracellularSequence analysis | 9 | |
Transmembranei | 194 – 212 | Helical; Name=S4 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 213 – 232 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 233 – 253 | Helical; Name=S5 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 254 – 394 | ExtracellularSequence analysisAdd BLAST | 141 | |
Transmembranei | 395 – 419 | Helical; Name=S6 of repeat ISequence analysisAdd BLAST | 25 | |
Topological domaini | 420 – 793 | CytoplasmicSequence analysisAdd BLAST | 374 | |
Transmembranei | 794 – 814 | Helical; Name=S1 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 815 – 827 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 828 – 849 | Helical; Name=S2 of repeat IISequence analysisAdd BLAST | 22 | |
Topological domaini | 850 – 855 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 856 – 874 | Helical; Name=S3 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 875 – 882 | ExtracellularSequence analysis | 8 | |
Transmembranei | 883 – 906 | Helical; Name=S4 of repeat IISequence analysisAdd BLAST | 24 | |
Topological domaini | 907 – 917 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 918 – 938 | Helical; Name=S5 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 939 – 990 | ExtracellularSequence analysisAdd BLAST | 52 | |
Transmembranei | 991 – 1015 | Helical; Name=S6 of repeat IISequence analysisAdd BLAST | 25 | |
Topological domaini | 1016 – 1290 | CytoplasmicSequence analysisAdd BLAST | 275 | |
Transmembranei | 1291 – 1313 | Helical; Name=S1 of repeat IIISequence analysisAdd BLAST | 23 | |
Topological domaini | 1314 – 1331 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 1332 – 1352 | Helical; Name=S2 of repeat IIISequence analysisAdd BLAST | 21 | |
Topological domaini | 1353 – 1362 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 1363 – 1382 | Helical; Name=S3 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 1383 – 1396 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1397 – 1418 | Helical; Name=S4 of repeat IIISequence analysisAdd BLAST | 22 | |
Topological domaini | 1419 – 1428 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 1429 – 1452 | Helical; Name=S5 of repeat IIISequence analysisAdd BLAST | 24 | |
Topological domaini | 1453 – 1529 | ExtracellularSequence analysisAdd BLAST | 77 | |
Transmembranei | 1530 – 1555 | Helical; Name=S6 of repeat IIISequence analysisAdd BLAST | 26 | |
Topological domaini | 1556 – 1616 | CytoplasmicSequence analysisAdd BLAST | 61 | |
Transmembranei | 1617 – 1637 | Helical; Name=S1 of repeat IVSequence analysisAdd BLAST | 21 | |
Topological domaini | 1638 – 1651 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1652 – 1673 | Helical; Name=S2 of repeat IVSequence analysisAdd BLAST | 22 | |
Topological domaini | 1674 – 1680 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 1681 – 1699 | Helical; Name=S3 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1700 – 1713 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1714 – 1737 | Helical; Name=S4 of repeat IVSequence analysisAdd BLAST | 24 | |
Topological domaini | 1738 – 1751 | CytoplasmicSequence analysisAdd BLAST | 14 | |
Transmembranei | 1752 – 1772 | Helical; Name=S5 of repeat IVSequence analysisAdd BLAST | 21 | |
Topological domaini | 1773 – 1835 | ExtracellularSequence analysisAdd BLAST | 63 | |
Transmembranei | 1836 – 1863 | Helical; Name=S6 of repeat IVSequence analysisAdd BLAST | 28 | |
Topological domaini | 1864 – 2353 | CytoplasmicSequence analysisAdd BLAST | 490 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Epilepsy, idiopathic generalized 6 (EIG6)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066986 | 618 | P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar. | 1 | |
Natural variantiVAR_066987 | 755 | G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar. | 1 |
Epilepsy, childhood absence 6 (ECA6)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045935 | 161 | F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar. | 1 | |
Natural variantiVAR_045936 | 282 | E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar. | 1 | |
Natural variantiVAR_045938 | 456 | C → S in ECA6; results in increased T-current amplitude and lower threshold for spikes generation; results in increased neuronal excitability. 2 Publications | 1 | |
Natural variantiVAR_045939 | 499 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl. | 1 | |
Natural variantiVAR_045941 | 648 | P → L in ECA6; creates a dileucine internalization motif that promotes recruitment of clathrin. 2 PublicationsCorresponds to variant dbSNP:rs1288484976Ensembl. | 1 | |
Natural variantiVAR_045944 | 744 | R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl. | 1 | |
Natural variantiVAR_045945 | 748 | A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl. | 1 | |
Natural variantiVAR_045946 | 773 | G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar. | 1 | |
Natural variantiVAR_045947 | 784 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl. | 1 | |
Natural variantiVAR_045950 | 831 | V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar. | 1 | |
Natural variantiVAR_045951 | 848 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094EnsemblClinVar. | 1 | |
Natural variantiVAR_045952 | 1463 | D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543EnsemblClinVar. | 1 |
Hyperaldosteronism, familial, 4 (HALD4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077064 | 196 | S → L in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 PublicationCorresponds to variant dbSNP:rs780596901Ensembl. | 1 | |
Natural variantiVAR_077065 | 1549 | M → I in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 Publication | 1 | |
Natural variantiVAR_077066 | 1549 | M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar. | 1 | |
Natural variantiVAR_077068 | 2083 | P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 8912 |
MalaCardsi | CACNA1H |
MIMi | 611942, phenotype 617027, phenotype |
OpenTargetsi | ENSG00000196557 |
Orphaneti | 64280, Childhood absence epilepsy |
PharmGKBi | PA380 |
Miscellaneous databases
Pharosi | O95180, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1859 |
DrugBanki | DB09231, Benidipine DB01244, Bepridil DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09061, Cannabidiol DB00568, Cinnarizine DB00228, Enflurane DB00153, Ergocalciferol DB01023, Felodipine DB04841, Flunarizine DB00270, Isradipine DB09238, Manidipine DB14009, Medical Cannabis DB01388, Mibefradil DB14011, Nabiximols DB01115, Nifedipine DB01054, Nitrendipine DB00421, Spironolactone DB09089, Trimebutine DB00661, Verapamil DB00909, Zonisamide |
DrugCentrali | O95180 |
GuidetoPHARMACOLOGYi | 536 |
Polymorphism and mutation databases
BioMutai | CACNA1H |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053954 | 1 – 2353 | Voltage-dependent T-type calcium channel subunit alpha-1HAdd BLAST | 2353 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 192 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 271 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1466 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | O95180 |
MassIVEi | O95180 |
PaxDbi | O95180 |
PeptideAtlasi | O95180 |
PRIDEi | O95180 |
ProteomicsDBi | 50690 [O95180-1] 50691 [O95180-2] |
PTM databases
GlyGeni | O95180, 3 sites |
iPTMneti | O95180 |
PhosphoSitePlusi | O95180 |
Expressioni
Tissue specificityi
In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, caudate nucleus, and putamen (PubMed:9670923, PubMed:9930755). In the heart, expressed in blood vessels. Isoform 1 and isoform 2 are expressed in testis, primarily in the germ cells, but not in other portions of the reproductive tract, such as ductus deferens. Isoform 2 is not detected in brain (PubMed:11751928). Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216).5 Publications
Gene expression databases
Bgeei | ENSG00000196557, Expressed in lower esophagus muscularis layer and 119 other tissues |
ExpressionAtlasi | O95180, baseline and differential |
Genevisiblei | O95180, HS |
Organism-specific databases
HPAi | ENSG00000196557, Tissue enhanced (smooth) |
Interactioni
Subunit structurei
Interacts (via N-terminal cytoplasmic domain) with STAC.
1 PublicationGO - Molecular functioni
- scaffold protein binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 114426, 7 interactors |
IntActi | O95180, 5 interactors |
MINTi | O95180 |
STRINGi | 9606.ENSP00000334198 |
Chemistry databases
BindingDBi | O95180 |
Miscellaneous databases
RNActi | O95180, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 87 – 422 | IAdd BLAST | 336 | |
Repeati | 779 – 1018 | IIAdd BLAST | 240 | |
Repeati | 1281 – 1558 | IIIAdd BLAST | 278 | |
Repeati | 1602 – 1863 | IVAdd BLAST | 262 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 520 – 530 | Poly-HisAdd BLAST | 11 | |
Compositional biasi | 1107 – 1110 | Poly-Ser | 4 | |
Compositional biasi | 1583 – 1586 | Poly-Arg | 4 |
Domaini
Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Sequence similaritiesi
Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily. [View classification]Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2302, Eukaryota |
GeneTreei | ENSGT00940000156666 |
HOGENOMi | CLU_000540_2_0_1 |
InParanoidi | O95180 |
OMAi | RPIHNLL |
OrthoDBi | 172471at2759 |
PhylomeDBi | O95180 |
TreeFami | TF313555 |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR005445, VDCC_T_a1 IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits |
PRINTSi | PR01629, TVDCCALPHA1 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O95180-1) [UniParc]FASTAAdd to basket
Also known as: A1H-a
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTEGARAADE VRVPLGAPPP GPAALVGASP ESPGAPGREA ERGSELGVSP
60 70 80 90 100
SESPAAERGA ELGADEEQRV PYPALAATVF FCLGQTTRPR SWCLRLVCNP
110 120 130 140 150
WFEHVSMLVI MLNCVTLGMF RPCEDVECGS ERCNILEAFD AFIFAFFAVE
160 170 180 190 200
MVIKMVALGL FGQKCYLGDT WNRLDFFIVV AGMMEYSLDG HNVSLSAIRT
210 220 230 240 250
VRVLRPLRAI NRVPSMRILV TLLLDTLPML GNVLLLCFFV FFIFGIVGVQ
260 270 280 290 300
LWAGLLRNRC FLDSAFVRNN NLTFLRPYYQ TEEGEENPFI CSSRRDNGMQ
310 320 330 340 350
KCSHIPGRRE LRMPCTLGWE AYTQPQAEGV GAARNACINW NQYYNVCRSG
360 370 380 390 400
DSNPHNGAIN FDNIGYAWIA IFQVITLEGW VDIMYYVMDA HSFYNFIYFI
410 420 430 440 450
LLIIVGSFFM INLCLVVIAT QFSETKQRES QLMREQRARH LSNDSTLASF
460 470 480 490 500
SEPGSCYEEL LKYVGHIFRK VKRRSLRLYA RWQSRWRKKV DPSAVQGQGP
510 520 530 540 550
GHRQRRAGRH TASVHHLVYH HHHHHHHHYH FSHGSPRRPG PEPGACDTRL
560 570 580 590 600
VRAGAPPSPP SPGRGPPDAE SVHSIYHADC HIEGPQERAR VAHAAATAAA
610 620 630 640 650
SLRLATGLGT MNYPTILPSG VGSGKGSTSP GPKGKWAGGP PGTGGHGPLS
660 670 680 690 700
LNSPDPYEKI PHVVGEHGLG QAPGHLSGLS VPCPLPSPPA GTLTCELKSC
710 720 730 740 750
PYCTRALEDP EGELSGSESG DSDGRGVYEF TQDVRHGDRW DPTRPPRATD
760 770 780 790 800
TPGPGPGSPQ RRAQQRAAPG EPGWMGRLWV TFSGKLRRIV DSKYFSRGIM
810 820 830 840 850
MAILVNTLSM GVEYHEQPEE LTNALEISNI VFTSMFALEM LLKLLACGPL
860 870 880 890 900
GYIRNPYNIF DGIIVVISVW EIVGQADGGL SVLRTFRLLR VLKLVRFLPA
910 920 930 940 950
LRRQLVVLVK TMDNVATFCT LLMLFIFIFS ILGMHLFGCK FSLKTDTGDT
960 970 980 990 1000
VPDRKNFDSL LWAIVTVFQI LTQEDWNVVL YNGMASTSSW AALYFVALMT
1010 1020 1030 1040 1050
FGNYVLFNLL VAILVEGFQA EGDANRSDTD EDKTSVHFEE DFHKLRELQT
1060 1070 1080 1090 1100
TELKMCSLAV TPNGHLEGRG SLSPPLIMCT AATPMPTPKS SPFLDAAPSL
1110 1120 1130 1140 1150
PDSRRGSSSS GDPPLGDQKP PASLRSSPCA PWGPSGAWSS RRSSWSSLGR
1160 1170 1180 1190 1200
APSLKRRGQC GERESLLSGE GKGSTDDEAE DGRAAPGPRA TPLRRAESLD
1210 1220 1230 1240 1250
PRPLRPAALP PTKCRDRDGQ VVALPSDFFL RIDSHREDAA ELDDDSEDSC
1260 1270 1280 1290 1300
CLRLHKVLEP YKPQWCRSRE AWALYLFSPQ NRFRVSCQKV ITHKMFDHVV
1310 1320 1330 1340 1350
LVFIFLNCVT IALERPDIDP GSTERVFLSV SNYIFTAIFV AEMMVKVVAL
1360 1370 1380 1390 1400
GLLSGEHAYL QSSWNLLDGL LVLVSLVDIV VAMASAGGAK ILGVLRVLRL
1410 1420 1430 1440 1450
LRTLRPLRVI SRAPGLKLVV ETLISSLRPI GNIVLICCAF FIIFGILGVQ
1460 1470 1480 1490 1500
LFKGKFYYCE GPDTRNISTK AQCRAAHYRW VRRKYNFDNL GQALMSLFVL
1510 1520 1530 1540 1550
SSKDGWVNIM YDGLDAVGVD QQPVQNHNPW MLLYFISFLL IVSFFVLNMF
1560 1570 1580 1590 1600
VGVVVENFHK CRQHQEAEEA RRREEKRLRR LERRRRSTFP SPEAQRRPYY
1610 1620 1630 1640 1650
ADYSPTRRSI HSLCTSHYLD LFITFIICVN VITMSMEHYN QPKSLDEALK
1660 1670 1680 1690 1700
YCNYVFTIVF VFEAALKLVA FGFRRFFKDR WNQLDLAIVL LSLMGITLEE
1710 1720 1730 1740 1750
IEMSAALPIN PTIIRIMRVL RIARVLKLLK MATGMRALLD TVVQALPQVG
1760 1770 1780 1790 1800
NLGLLFMLLF FIYAALGVEL FGRLECSEDN PCEGLSRHAT FSNFGMAFLT
1810 1820 1830 1840 1850
LFRVSTGDNW NGIMKDTLRE CSREDKHCLS YLPALSPVYF VTFVLVAQFV
1860 1870 1880 1890 1900
LVNVVVAVLM KHLEESNKEA REDAELDAEI ELEMAQGPGS ARRVDADRPP
1910 1920 1930 1940 1950
LPQESPGARD APNLVARKVS VSRMLSLPND SYMFRPVVPA SAPHPRPLQE
1960 1970 1980 1990 2000
VEMETYGAGT PLGSVASVHS PPAESCASLQ IPLAVSSPAR SGEPLHALSP
2010 2020 2030 2040 2050
RGTARSPSLS RLLCRQEAVH TDSLEGKIDS PRDTLDPAEP GEKTPVRPVT
2060 2070 2080 2090 2100
QGGSLQSPPR SPRPASVRTR KHTFGQRCVS SRPAAPGGEE AEASDPADEE
2110 2120 2130 2140 2150
VSHITSSACP WQPTAEPHGP EASPVAGGER DLRRLYSVDA QGFLDKPGRA
2160 2170 2180 2190 2200
DEQWRPSAEL GSGEPGEAKA WGPEAEPALG ARRKKKMSPP CISVEPPAED
2210 2220 2230 2240 2250
EGSARPSAAE GGSTTLRRRT PSCEATPHRD SLEPTEGSGA GGDPAAKGER
2260 2270 2280 2290 2300
WGQASCRAEH LTVPSFAFEP LDLGVPSGDP FLDGSHSVTP ESRASSSGAI
2310 2320 2330 2340 2350
VPLEPPESEP PMPVGDPPEK RRGLYLTVPQ CPLEKPGSPS ATPAPGGGAD
DPV
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BMW6 | H3BMW6_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 1,078 | Annotation score: | ||
H3BNT0 | H3BNT0_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 1,100 | Annotation score: | ||
H3BUA8 | H3BUA8_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 1,084 | Annotation score: | ||
A0A1W2PR14 | A0A1W2PR14_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 2,340 | Annotation score: | ||
A0A1W2PQW2 | A0A1W2PQW2_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 1,618 | Annotation score: | ||
A0A1W2PQ19 | A0A1W2PQ19_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 489 | Annotation score: | ||
A0A1W2PS38 | A0A1W2PS38_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1H | 130 | Annotation score: |
Sequence cautioni
The sequence AAK61268 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAC42094 differs from that shown. Reason: Erroneous gene model prediction.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 7 | A → S in AC120498 (PubMed:11157797).Curated | 1 | ||
Sequence conflicti | 31 | E → K in AC120498 (PubMed:11157797).Curated | 1 | ||
Sequence conflicti | 55 | A → S in AC120498 (PubMed:11157797).Curated | 1 | ||
Sequence conflicti | 94 | L → V in AC120498 (PubMed:11157797).Curated | 1 | ||
Sequence conflicti | 215 | S → T in CAC42094 (PubMed:15616553).Curated | 1 | ||
Isoform 2 (identifier: O95180-2) | |||||
Sequence conflicti | 1587 | K → E in CAD12646 (PubMed:11751928).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_045935 | 161 | F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar. | 1 | |
Natural variantiVAR_077064 | 196 | S → L in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 PublicationCorresponds to variant dbSNP:rs780596901Ensembl. | 1 | |
Natural variantiVAR_045936 | 282 | E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar. | 1 | |
Natural variantiVAR_045937 | 313 | M → V3 PublicationsCorresponds to variant dbSNP:rs36117280EnsemblClinVar. | 1 | |
Natural variantiVAR_045938 | 456 | C → S in ECA6; results in increased T-current amplitude and lower threshold for spikes generation; results in increased neuronal excitability. 2 Publications | 1 | |
Natural variantiVAR_045939 | 499 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl. | 1 | |
Natural variantiVAR_078237 | 516 | H → Y Found in a patient with drug-resistant focal epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519554EnsemblClinVar. | 1 | |
Natural variantiVAR_066986 | 618 | P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar. | 1 | |
Natural variantiVAR_045940 | 640 | P → L2 PublicationsCorresponds to variant dbSNP:rs61734410EnsemblClinVar. | 1 | |
Natural variantiVAR_045941 | 648 | P → L in ECA6; creates a dileucine internalization motif that promotes recruitment of clathrin. 2 PublicationsCorresponds to variant dbSNP:rs1288484976Ensembl. | 1 | |
Natural variantiVAR_045942 | 664 | V → A3 PublicationsCorresponds to variant dbSNP:rs4984636EnsemblClinVar. | 1 | |
Natural variantiVAR_045943 | 684 | P → S1 PublicationCorresponds to variant dbSNP:rs762185083Ensembl. | 1 | |
Natural variantiVAR_045944 | 744 | R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl. | 1 | |
Natural variantiVAR_045945 | 748 | A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl. | 1 | |
Natural variantiVAR_066987 | 755 | G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar. | 1 | |
Natural variantiVAR_045946 | 773 | G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar. | 1 | |
Natural variantiVAR_045947 | 784 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl. | 1 | |
Natural variantiVAR_045948 | 788 | R → C1 PublicationCorresponds to variant dbSNP:rs3751664EnsemblClinVar. | 1 | |
Natural variantiVAR_045949 | 812 | V → M. Corresponds to variant dbSNP:rs28365119EnsemblClinVar. | 1 | |
Natural variantiVAR_045950 | 831 | V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar. | 1 | |
Natural variantiVAR_045951 | 848 | G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094EnsemblClinVar. | 1 | |
Natural variantiVAR_045952 | 1463 | D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543EnsemblClinVar. | 1 | |
Natural variantiVAR_077065 | 1549 | M → I in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 Publication | 1 | |
Natural variantiVAR_077066 | 1549 | M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar. | 1 | |
Natural variantiVAR_061104 | 1871 | R → Q. Corresponds to variant dbSNP:rs58124832EnsemblClinVar. | 1 | |
Natural variantiVAR_077067 | 1951 | V → E Probable disease-associated variant responsible for primary aldosteronism found in a patient with aldosterone-producing adenoma; changed Ca(2+) channel activity. 1 PublicationCorresponds to variant dbSNP:rs746967306EnsemblClinVar. | 1 | |
Natural variantiVAR_078702 | 1970 | S → C Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1267377730Ensembl. | 1 | |
Natural variantiVAR_033698 | 1974 | E → G. Corresponds to variant dbSNP:rs3751886EnsemblClinVar. | 1 | |
Natural variantiVAR_045953 | 2060 | R → H2 PublicationsCorresponds to variant dbSNP:rs1054644EnsemblClinVar. | 1 | |
Natural variantiVAR_045954 | 2077 | R → H3 PublicationsCorresponds to variant dbSNP:rs1054645EnsemblClinVar. | 1 | |
Natural variantiVAR_077068 | 2083 | P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl. | 1 | |
Natural variantiVAR_045955 | 2173 | P → S1 PublicationCorresponds to variant dbSNP:rs200675829EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000949 | 1587 – 1593 | STFPSPE → K in isoform 2. 1 Publication | 7 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF051946 mRNA Translation: AAC67239.3 AF073931 mRNA Translation: AAD17668.1 AJ420779 mRNA Translation: CAD12646.1 AE006466 Genomic DNA Translation: AAK61268.1 Sequence problems. AL031703 Genomic DNA Translation: CAC42094.1 Sequence problems. AC120498 Genomic DNA No translation available. AF223562 Genomic DNA Translation: AAF60162.1 AF223563 Genomic DNA Translation: AAF60163.1 |
CCDSi | CCDS45375.1 [O95180-1] CCDS45376.1 [O95180-2] |
RefSeqi | NP_001005407.1, NM_001005407.1 [O95180-2] NP_066921.2, NM_021098.2 [O95180-1] |
Genome annotation databases
Ensembli | ENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1] ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2] ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2] |
GeneIDi | 8912 |
KEGGi | hsa:8912 |
UCSCi | uc002cks.4, human [O95180-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF051946 mRNA Translation: AAC67239.3 AF073931 mRNA Translation: AAD17668.1 AJ420779 mRNA Translation: CAD12646.1 AE006466 Genomic DNA Translation: AAK61268.1 Sequence problems. AL031703 Genomic DNA Translation: CAC42094.1 Sequence problems. AC120498 Genomic DNA No translation available. AF223562 Genomic DNA Translation: AAF60162.1 AF223563 Genomic DNA Translation: AAF60163.1 |
CCDSi | CCDS45375.1 [O95180-1] CCDS45376.1 [O95180-2] |
RefSeqi | NP_001005407.1, NM_001005407.1 [O95180-2] NP_066921.2, NM_021098.2 [O95180-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114426, 7 interactors |
IntActi | O95180, 5 interactors |
MINTi | O95180 |
STRINGi | 9606.ENSP00000334198 |
Chemistry databases
BindingDBi | O95180 |
ChEMBLi | CHEMBL1859 |
DrugBanki | DB09231, Benidipine DB01244, Bepridil DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09061, Cannabidiol DB00568, Cinnarizine DB00228, Enflurane DB00153, Ergocalciferol DB01023, Felodipine DB04841, Flunarizine DB00270, Isradipine DB09238, Manidipine DB14009, Medical Cannabis DB01388, Mibefradil DB14011, Nabiximols DB01115, Nifedipine DB01054, Nitrendipine DB00421, Spironolactone DB09089, Trimebutine DB00661, Verapamil DB00909, Zonisamide |
DrugCentrali | O95180 |
GuidetoPHARMACOLOGYi | 536 |
Protein family/group databases
TCDBi | 1.A.1.11.5, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | O95180, 3 sites |
iPTMneti | O95180 |
PhosphoSitePlusi | O95180 |
Polymorphism and mutation databases
BioMutai | CACNA1H |
Proteomic databases
jPOSTi | O95180 |
MassIVEi | O95180 |
PaxDbi | O95180 |
PeptideAtlasi | O95180 |
PRIDEi | O95180 |
ProteomicsDBi | 50690 [O95180-1] 50691 [O95180-2] |
Protocols and materials databases
ABCDi | O95180, 1 sequenced antibody |
Antibodypediai | 22964, 286 antibodies |
Genome annotation databases
Ensembli | ENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1] ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2] ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2] |
GeneIDi | 8912 |
KEGGi | hsa:8912 |
UCSCi | uc002cks.4, human [O95180-1] |
Organism-specific databases
CTDi | 8912 |
DisGeNETi | 8912 |
EuPathDBi | HostDB:ENSG00000196557.10 |
GeneCardsi | CACNA1H |
HGNCi | HGNC:1395, CACNA1H |
HPAi | ENSG00000196557, Tissue enhanced (smooth) |
MalaCardsi | CACNA1H |
MIMi | 607904, gene 611942, phenotype 617027, phenotype |
neXtProti | NX_O95180 |
OpenTargetsi | ENSG00000196557 |
Orphaneti | 64280, Childhood absence epilepsy |
PharmGKBi | PA380 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2302, Eukaryota |
GeneTreei | ENSGT00940000156666 |
HOGENOMi | CLU_000540_2_0_1 |
InParanoidi | O95180 |
OMAi | RPIHNLL |
OrthoDBi | 172471at2759 |
PhylomeDBi | O95180 |
TreeFami | TF313555 |
Enzyme and pathway databases
PathwayCommonsi | O95180 |
Reactomei | R-HSA-419037, NCAM1 interactions |
Miscellaneous databases
BioGRID-ORCSi | 8912, 6 hits in 845 CRISPR screens |
ChiTaRSi | CACNA1H, human |
GeneWikii | CACNA1H |
GenomeRNAii | 8912 |
Pharosi | O95180, Tclin |
PROi | PR:O95180 |
RNActi | O95180, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196557, Expressed in lower esophagus muscularis layer and 119 other tissues |
ExpressionAtlasi | O95180, baseline and differential |
Genevisiblei | O95180, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR005445, VDCC_T_a1 IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits |
PRINTSi | PR01629, TVDCCALPHA1 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAC1H_HUMAN | |
Accessioni | O95180Primary (citable) accession number: O95180 Secondary accession number(s): B5ME00 Q9NYY5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | September 19, 2002 | |
Last modified: | December 2, 2020 | |
This is version 192 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations