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Protein

Voltage-dependent T-type calcium channel subunit alpha-1H

Gene

CACNA1H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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).Curated5 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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi140Zinc1
Metal bindingi189Zinc1
Metal bindingi191Zinc1
Sitei378Calcium ion selectivity and permeabilityBy similarity1
Sitei974Calcium ion selectivity and permeabilityBy similarity1
Sitei1504Calcium ion selectivity and permeabilityBy similarity1
Sitei1808Calcium ion selectivity and permeabilityBy similarity1

GO - Molecular functioni

  • 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

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-419037 NCAM1 interactions

Protein family/group databases

TCDBi1.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-1H
Alternative name(s):
Low-voltage-activated calcium channel alpha1 3.2 subunit
Voltage-gated calcium channel subunit alpha Cav3.2
Gene namesi
Name:CACNA1H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000196557.10
HGNCiHGNC:1395 CACNA1H
MIMi607904 gene
neXtProtiNX_O95180

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 100CytoplasmicSequence analysisAdd BLAST100
Transmembranei101 – 119Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini120 – 141ExtracellularSequence analysisAdd BLAST22
Transmembranei142 – 160Helical; Name=S2 of repeat ISequence analysisAdd BLAST19
Topological domaini161 – 169CytoplasmicSequence analysis9
Transmembranei170 – 184Helical; Name=S3 of repeat ISequence analysisAdd BLAST15
Topological domaini185 – 193ExtracellularSequence analysis9
Transmembranei194 – 212Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini213 – 232CytoplasmicSequence analysisAdd BLAST20
Transmembranei233 – 253Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini254 – 394ExtracellularSequence analysisAdd BLAST141
Transmembranei395 – 419Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini420 – 793CytoplasmicSequence analysisAdd BLAST374
Transmembranei794 – 814Helical; Name=S1 of repeat IISequence analysisAdd BLAST21
Topological domaini815 – 827ExtracellularSequence analysisAdd BLAST13
Transmembranei828 – 849Helical; Name=S2 of repeat IISequence analysisAdd BLAST22
Topological domaini850 – 855CytoplasmicSequence analysis6
Transmembranei856 – 874Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini875 – 882ExtracellularSequence analysis8
Transmembranei883 – 906Helical; Name=S4 of repeat IISequence analysisAdd BLAST24
Topological domaini907 – 917CytoplasmicSequence analysisAdd BLAST11
Transmembranei918 – 938Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini939 – 990ExtracellularSequence analysisAdd BLAST52
Transmembranei991 – 1015Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini1016 – 1290CytoplasmicSequence analysisAdd BLAST275
Transmembranei1291 – 1313Helical; Name=S1 of repeat IIISequence analysisAdd BLAST23
Topological domaini1314 – 1331ExtracellularSequence analysisAdd BLAST18
Transmembranei1332 – 1352Helical; Name=S2 of repeat IIISequence analysisAdd BLAST21
Topological domaini1353 – 1362CytoplasmicSequence analysis10
Transmembranei1363 – 1382Helical; Name=S3 of repeat IIISequence analysisAdd BLAST20
Topological domaini1383 – 1396ExtracellularSequence analysisAdd BLAST14
Transmembranei1397 – 1418Helical; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1419 – 1428CytoplasmicSequence analysis10
Transmembranei1429 – 1452Helical; Name=S5 of repeat IIISequence analysisAdd BLAST24
Topological domaini1453 – 1529ExtracellularSequence analysisAdd BLAST77
Transmembranei1530 – 1555Helical; Name=S6 of repeat IIISequence analysisAdd BLAST26
Topological domaini1556 – 1616CytoplasmicSequence analysisAdd BLAST61
Transmembranei1617 – 1637Helical; Name=S1 of repeat IVSequence analysisAdd BLAST21
Topological domaini1638 – 1651ExtracellularSequence analysisAdd BLAST14
Transmembranei1652 – 1673Helical; Name=S2 of repeat IVSequence analysisAdd BLAST22
Topological domaini1674 – 1680CytoplasmicSequence analysis7
Transmembranei1681 – 1699Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1700 – 1713ExtracellularSequence analysisAdd BLAST14
Transmembranei1714 – 1737Helical; Name=S4 of repeat IVSequence analysisAdd BLAST24
Topological domaini1738 – 1751CytoplasmicSequence analysisAdd BLAST14
Transmembranei1752 – 1772Helical; Name=S5 of repeat IVSequence analysisAdd BLAST21
Topological domaini1773 – 1835ExtracellularSequence analysisAdd BLAST63
Transmembranei1836 – 1863Helical; Name=S6 of repeat IVSequence analysisAdd BLAST28
Topological domaini1864 – 2353CytoplasmicSequence analysisAdd BLAST490

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, idiopathic generalized 6 (EIG6)1 Publication
Disease susceptibility is 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.
See also OMIM:611942
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066986618P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar.1
Natural variantiVAR_066987755G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar.1
Epilepsy, childhood absence 6 (ECA6)1 Publication
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.
See also OMIM:611942
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045935161F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar.1
Natural variantiVAR_045936282E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar.1
Natural variantiVAR_045938456C → S in ECA6. 1 Publication1
Natural variantiVAR_045939499G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl.1
Natural variantiVAR_045941648P → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs1288484976Ensembl.1
Natural variantiVAR_045944744R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl.1
Natural variantiVAR_045945748A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl.1
Natural variantiVAR_045946773G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar.1
Natural variantiVAR_045947784G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl.1
Natural variantiVAR_045950831V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar.1
Natural variantiVAR_045951848G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094Ensembl.1
Natural variantiVAR_0459521463D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543Ensembl.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.
See also OMIM:617027
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077064196S → 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_0770651549M → 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 Publication1
Natural variantiVAR_0770661549M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar.1
Natural variantiVAR_0770682083P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi8912
MalaCardsiCACNA1H
MIMi611942 phenotype
617027 phenotype
OpenTargetsiENSG00000196557
Orphaneti64280 Childhood absence epilepsy
PharmGKBiPA380

Chemistry databases

ChEMBLiCHEMBL1859
DrugBankiDB01118 Amiodarone
DB01244 Bepridil
DB00568 Cinnarizine
DB01023 Felodipine
DB04841 Flunarizine
DB00270 Isradipine
DB01388 Mibefradil
DB01115 Nifedipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB00909 Zonisamide
GuidetoPHARMACOLOGYi536

Polymorphism and mutation databases

BioMutaiCACNA1H

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539541 – 2353Voltage-dependent T-type calcium channel subunit alpha-1HAdd BLAST2353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi271N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1466N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO95180
PeptideAtlasiO95180
PRIDEiO95180
ProteomicsDBi50690
50691 [O95180-2]

PTM databases

iPTMnetiO95180
PhosphoSitePlusiO95180

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

BgeeiENSG00000196557 Expressed in 101 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_CACNA1H
ExpressionAtlasiO95180 baseline and differential
GenevisibleiO95180 HS

Organism-specific databases

HPAiHPA039125

Interactioni

Subunit structurei

Interacts (via N-terminal cytoplasmic domain) with STAC.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114426, 6 interactors
IntActiO95180, 2 interactors
MINTiO95180
STRINGi9606.ENSP00000334198

Structurei

3D structure databases

ProteinModelPortaliO95180
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati87 – 422IAdd BLAST336
Repeati779 – 1018IIAdd BLAST240
Repeati1281 – 1558IIIAdd BLAST278
Repeati1602 – 1863IVAdd BLAST262

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi520 – 530Poly-HisAdd BLAST11
Compositional biasi1107 – 1110Poly-Ser4
Compositional biasi1583 – 1586Poly-Arg4

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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IP4J Eukaryota
COG1226 LUCA
GeneTreeiENSGT00830000128242
HOVERGENiHBG050764
InParanoidiO95180
KOiK04855
OMAiQSSWNLL
OrthoDBiEOG091G02L1
PhylomeDBiO95180
TreeFamiTF313555

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR005445 VDCC_T_a1
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PRINTSiPR01629 TVDCCALPHA1

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:2,353
Mass (Da):259,163
Last modified:September 19, 2002 - v4
Checksum:iE13E270635173D98
GO
Isoform 2 (identifier: O95180-2) [UniParc]FASTAAdd to basket
Also known as: A1H-b

The sequence of this isoform differs from the canonical sequence as follows:
     1587-1593: STFPSPE → K

Show »
Length:2,347
Mass (Da):258,545
Checksum:i92C26CC4852C3E0A
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUA8H3BUA8_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,084Annotation score:
H3BNT0H3BNT0_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,100Annotation score:
H3BMW6H3BMW6_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,078Annotation score:
A0A1W2PR14A0A1W2PR14_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
2,340Annotation score:
A0A1W2PQW2A0A1W2PQW2_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,618Annotation score:
A0A1W2PQ19A0A1W2PQ19_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
489Annotation score:
A0A1W2PS38A0A1W2PS38_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
130Annotation 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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7A → S in AC120498 (PubMed:11157797).Curated1
Sequence conflicti31E → K in AC120498 (PubMed:11157797).Curated1
Sequence conflicti55A → S in AC120498 (PubMed:11157797).Curated1
Sequence conflicti94L → V in AC120498 (PubMed:11157797).Curated1
Sequence conflicti215S → T in CAC42094 (PubMed:15616553).Curated1
Isoform 2 (identifier: O95180-2)
Sequence conflicti1587K → E in CAD12646 (PubMed:11751928).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045935161F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar.1
Natural variantiVAR_077064196S → 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_045936282E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar.1
Natural variantiVAR_045937313M → V3 PublicationsCorresponds to variant dbSNP:rs36117280Ensembl.1
Natural variantiVAR_045938456C → S in ECA6. 1 Publication1
Natural variantiVAR_045939499G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl.1
Natural variantiVAR_078237516H → Y Found in a patient with drug-resistant focal epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519554Ensembl.1
Natural variantiVAR_066986618P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar.1
Natural variantiVAR_045940640P → L2 PublicationsCorresponds to variant dbSNP:rs61734410EnsemblClinVar.1
Natural variantiVAR_045941648P → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs1288484976Ensembl.1
Natural variantiVAR_045942664V → A3 PublicationsCorresponds to variant dbSNP:rs4984636EnsemblClinVar.1
Natural variantiVAR_045943684P → S1 PublicationCorresponds to variant dbSNP:rs762185083Ensembl.1
Natural variantiVAR_045944744R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl.1
Natural variantiVAR_045945748A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl.1
Natural variantiVAR_066987755G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar.1
Natural variantiVAR_045946773G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar.1
Natural variantiVAR_045947784G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl.1
Natural variantiVAR_045948788R → C1 PublicationCorresponds to variant dbSNP:rs3751664EnsemblClinVar.1
Natural variantiVAR_045949812V → M. Corresponds to variant dbSNP:rs28365119Ensembl.1
Natural variantiVAR_045950831V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar.1
Natural variantiVAR_045951848G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094Ensembl.1
Natural variantiVAR_0459521463D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543Ensembl.1
Natural variantiVAR_0770651549M → 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 Publication1
Natural variantiVAR_0770661549M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar.1
Natural variantiVAR_0611041871R → Q. Corresponds to variant dbSNP:rs58124832Ensembl.1
Natural variantiVAR_0770671951V → E Probable disease-associated mutation responsible for primary aldosteronism found in a patient with aldosterone-producing adenoma; changed Ca(2+) channel activity. 1 PublicationCorresponds to variant dbSNP:rs746967306Ensembl.1
Natural variantiVAR_0787021970S → C Found in a patient with autism; unknown pathological significance. 1 Publication1
Natural variantiVAR_0336981974E → G. Corresponds to variant dbSNP:rs3751886EnsemblClinVar.1
Natural variantiVAR_0459532060R → H2 PublicationsCorresponds to variant dbSNP:rs1054644EnsemblClinVar.1
Natural variantiVAR_0459542077R → H3 PublicationsCorresponds to variant dbSNP:rs1054645EnsemblClinVar.1
Natural variantiVAR_0770682083P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl.1
Natural variantiVAR_0459552173P → S1 PublicationCorresponds to variant dbSNP:rs200675829EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0009491587 – 1593STFPSPE → K in isoform 2. 1 Publication7

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
CCDSiCCDS45375.1 [O95180-1]
CCDS45376.1 [O95180-2]
RefSeqiNP_001005407.1, NM_001005407.1 [O95180-2]
NP_066921.2, NM_021098.2 [O95180-1]
UniGeneiHs.459642

Genome annotation databases

EnsembliENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1]
ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2]
ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2]
GeneIDi8912
KEGGihsa:8912
UCSCiuc002cks.4 human [O95180-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS45375.1 [O95180-1]
CCDS45376.1 [O95180-2]
RefSeqiNP_001005407.1, NM_001005407.1 [O95180-2]
NP_066921.2, NM_021098.2 [O95180-1]
UniGeneiHs.459642

3D structure databases

ProteinModelPortaliO95180
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114426, 6 interactors
IntActiO95180, 2 interactors
MINTiO95180
STRINGi9606.ENSP00000334198

Chemistry databases

ChEMBLiCHEMBL1859
DrugBankiDB01118 Amiodarone
DB01244 Bepridil
DB00568 Cinnarizine
DB01023 Felodipine
DB04841 Flunarizine
DB00270 Isradipine
DB01388 Mibefradil
DB01115 Nifedipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB00909 Zonisamide
GuidetoPHARMACOLOGYi536

Protein family/group databases

TCDBi1.A.1.11.5 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO95180
PhosphoSitePlusiO95180

Polymorphism and mutation databases

BioMutaiCACNA1H

Proteomic databases

PaxDbiO95180
PeptideAtlasiO95180
PRIDEiO95180
ProteomicsDBi50690
50691 [O95180-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1]
ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2]
ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2]
GeneIDi8912
KEGGihsa:8912
UCSCiuc002cks.4 human [O95180-1]

Organism-specific databases

CTDi8912
DisGeNETi8912
EuPathDBiHostDB:ENSG00000196557.10
GeneCardsiCACNA1H
H-InvDBiHIX0038538
HGNCiHGNC:1395 CACNA1H
HPAiHPA039125
MalaCardsiCACNA1H
MIMi607904 gene
611942 phenotype
617027 phenotype
neXtProtiNX_O95180
OpenTargetsiENSG00000196557
Orphaneti64280 Childhood absence epilepsy
PharmGKBiPA380
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IP4J Eukaryota
COG1226 LUCA
GeneTreeiENSGT00830000128242
HOVERGENiHBG050764
InParanoidiO95180
KOiK04855
OMAiQSSWNLL
OrthoDBiEOG091G02L1
PhylomeDBiO95180
TreeFamiTF313555

Enzyme and pathway databases

ReactomeiR-HSA-419037 NCAM1 interactions

Miscellaneous databases

ChiTaRSiCACNA1H human
GeneWikiiCACNA1H
GenomeRNAii8912
PROiPR:O95180
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196557 Expressed in 101 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_CACNA1H
ExpressionAtlasiO95180 baseline and differential
GenevisibleiO95180 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR005445 VDCC_T_a1
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PRINTSiPR01629 TVDCCALPHA1
ProtoNetiSearch...

Entry informationi

Entry nameiCAC1H_HUMAN
AccessioniPrimary (citable) accession number: O95180
Secondary accession number(s): B5ME00
, F8WFD1, O95802, Q8WWI6, Q96QI6, Q96RZ9, Q9NYY4, Q9NYY5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 19, 2002
Last modified: October 10, 2018
This is version 177 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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