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O95180

- CAC1H_HUMAN

UniProt

O95180 - CAC1H_HUMAN

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Protein

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

Gene

CACNA1H

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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-1H 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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi140 – 1401Zinc
Metal bindingi189 – 1891Zinc
Metal bindingi191 – 1911Zinc
Sitei378 – 3781Calcium ion selectivity and permeabilityBy similarity
Sitei974 – 9741Calcium ion selectivity and permeabilityBy similarity
Sitei1504 – 15041Calcium ion selectivity and permeabilityBy similarity
Sitei1808 – 18081Calcium ion selectivity and permeabilityBy similarity

GO - Molecular functioni

  1. low voltage-gated calcium channel activity Source: BHF-UCL
  2. metal ion binding Source: UniProtKB-KW
  3. scaffold protein binding Source: BHF-UCL

GO - Biological processi

  1. aldosterone biosynthetic process Source: UniProtKB
  2. axon guidance Source: Reactome
  3. calcium ion import Source: BHF-UCL
  4. cellular response to hormone stimulus Source: UniProtKB
  5. cellular response to potassium ion Source: UniProtKB
  6. cortisol biosynthetic process Source: UniProtKB
  7. membrane depolarization during action potential Source: RefGenome
  8. muscle contraction Source: ProtInc
  9. muscle organ development Source: ProtInc
  10. myoblast fusion Source: ProtInc
  11. positive regulation of acrosome reaction Source: UniProtKB
  12. regulation of heart contraction Source: ProtInc
  13. regulation of membrane potential Source: BHF-UCL
  14. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_18312. 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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:1395. CACNA1H.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 100100CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei101 – 11919Helical; Name=S1 of repeat ISequence AnalysisAdd
BLAST
Topological domaini120 – 14122ExtracellularSequence AnalysisAdd
BLAST
Transmembranei142 – 16019Helical; Name=S2 of repeat ISequence AnalysisAdd
BLAST
Topological domaini161 – 1699CytoplasmicSequence Analysis
Transmembranei170 – 18415Helical; Name=S3 of repeat ISequence AnalysisAdd
BLAST
Topological domaini185 – 1939ExtracellularSequence Analysis
Transmembranei194 – 21219Helical; Name=S4 of repeat ISequence AnalysisAdd
BLAST
Topological domaini213 – 23220CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei233 – 25321Helical; Name=S5 of repeat ISequence AnalysisAdd
BLAST
Topological domaini254 – 394141ExtracellularSequence AnalysisAdd
BLAST
Transmembranei395 – 41925Helical; Name=S6 of repeat ISequence AnalysisAdd
BLAST
Topological domaini420 – 793374CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei794 – 81421Helical; Name=S1 of repeat IISequence AnalysisAdd
BLAST
Topological domaini815 – 82713ExtracellularSequence AnalysisAdd
BLAST
Transmembranei828 – 84922Helical; Name=S2 of repeat IISequence AnalysisAdd
BLAST
Topological domaini850 – 8556CytoplasmicSequence Analysis
Transmembranei856 – 87419Helical; Name=S3 of repeat IISequence AnalysisAdd
BLAST
Topological domaini875 – 8828ExtracellularSequence Analysis
Transmembranei883 – 90624Helical; Name=S4 of repeat IISequence AnalysisAdd
BLAST
Topological domaini907 – 91711CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei918 – 93821Helical; Name=S5 of repeat IISequence AnalysisAdd
BLAST
Topological domaini939 – 99052ExtracellularSequence AnalysisAdd
BLAST
Transmembranei991 – 101525Helical; Name=S6 of repeat IISequence AnalysisAdd
BLAST
Topological domaini1016 – 1290275CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1291 – 131323Helical; Name=S1 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1314 – 133118ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1332 – 135221Helical; Name=S2 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1353 – 136210CytoplasmicSequence Analysis
Transmembranei1363 – 138220Helical; Name=S3 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1383 – 139614ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1397 – 141822Helical; Name=S4 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1419 – 142810CytoplasmicSequence Analysis
Transmembranei1429 – 145224Helical; Name=S5 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1453 – 152977ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1530 – 155526Helical; Name=S6 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1556 – 161661CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1617 – 163721Helical; Name=S1 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1638 – 165114ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1652 – 167322Helical; Name=S2 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1674 – 16807CytoplasmicSequence Analysis
Transmembranei1681 – 169919Helical; Name=S3 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1700 – 171314ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1714 – 173724Helical; Name=S4 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1738 – 175114CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1752 – 177221Helical; Name=S5 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1773 – 183563ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1836 – 186328Helical; Name=S6 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1864 – 2353490CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. caveola Source: Ensembl
  2. integral component of membrane Source: BHF-UCL
  3. plasma membrane Source: RefGenome
  4. sarcolemma Source: Ensembl
  5. voltage-gated calcium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611F → L in ECA6. 1 Publication
VAR_045935
Natural varianti282 – 2821E → K in ECA6. 1 Publication
VAR_045936
Natural varianti456 – 4561C → S in ECA6. 1 Publication
VAR_045938
Natural varianti499 – 4991G → S in ECA6. 1 Publication
VAR_045939
Natural varianti648 – 6481P → L in ECA6. 1 Publication
VAR_045941
Natural varianti744 – 7441R → Q in ECA6. 1 Publication
VAR_045944
Natural varianti748 – 7481A → V in ECA6. 1 Publication
VAR_045945
Natural varianti773 – 7731G → D in ECA6. 1 Publication
VAR_045946
Natural varianti784 – 7841G → S in ECA6. 1 Publication
VAR_045947
Natural varianti831 – 8311V → M in ECA6. 1 Publication
VAR_045950
Natural varianti848 – 8481G → S in ECA6. 1 Publication
VAR_045951
Natural varianti1463 – 14631D → N in ECA6. 1 Publication
VAR_045952

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi611942. phenotype.
Orphaneti64280. Childhood absence epilepsy.
PharmGKBiPA380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 23532353Voltage-dependent T-type calcium channel subunit alpha-1HPRO_0000053954Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi192 – 1921N-linked (GlcNAc...)Sequence Analysis
Glycosylationi271 – 2711N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1466 – 14661N-linked (GlcNAc...)Sequence Analysis

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.
PRIDEiO95180.

PTM databases

PhosphoSiteiO95180.

Expressioni

Tissue specificityi

Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific.

Gene expression databases

BgeeiO95180.
CleanExiHS_CACNA1H.
ExpressionAtlasiO95180. baseline and differential.
GenevestigatoriO95180.

Organism-specific databases

HPAiHPA039125.

Interactioni

Protein-protein interaction databases

BioGridi114426. 3 interactions.
IntActiO95180. 2 interactions.
STRINGi9606.ENSP00000334198.

Structurei

3D structure databases

ProteinModelPortaliO95180.
SMRiO95180. Positions 96-253, 361-431, 795-1031, 1296-1583, 1623-1875.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati87 – 422336IAdd
BLAST
Repeati779 – 1018240IIAdd
BLAST
Repeati1281 – 1558278IIIAdd
BLAST
Repeati1602 – 1863262IVAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi520 – 53011Poly-HisAdd
BLAST
Compositional biasi1107 – 11104Poly-Ser
Compositional biasi1583 – 15864Poly-Arg

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

eggNOGiCOG1226.
GeneTreeiENSGT00760000118827.
HOVERGENiHBG050764.
InParanoidiO95180.
KOiK04855.
OMAiGRADEQW.
OrthoDBiEOG7MKW55.
PhylomeDBiO95180.
TreeFamiTF313555.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR005445. VDCC_T_a1su.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
[Graphical view]
PRINTSiPR01629. TVDCCALPHA1.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence AAK61268.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAC42094.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71A → S in AC120498. (PubMed:11157797)Curated
Sequence conflicti31 – 311E → K in AC120498. (PubMed:11157797)Curated
Sequence conflicti55 – 551A → S in AC120498. (PubMed:11157797)Curated
Sequence conflicti94 – 941L → V in AC120498. (PubMed:11157797)Curated
Sequence conflicti215 – 2151S → T in CAC42094. (PubMed:15616553)Curated
Isoform 2 (identifier: O95180-2)
Sequence conflicti1587 – 15871K → E in CAD12646. (PubMed:11751928)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611F → L in ECA6. 1 Publication
VAR_045935
Natural varianti282 – 2821E → K in ECA6. 1 Publication
VAR_045936
Natural varianti313 – 3131M → V.3 Publications
Corresponds to variant rs36117280 [ dbSNP | Ensembl ].
VAR_045937
Natural varianti456 – 4561C → S in ECA6. 1 Publication
VAR_045938
Natural varianti499 – 4991G → S in ECA6. 1 Publication
VAR_045939
Natural varianti618 – 6181P → L in IGE6. 1 Publication
Corresponds to variant rs60734921 [ dbSNP | Ensembl ].
VAR_066986
Natural varianti640 – 6401P → L.2 Publications
Corresponds to variant rs61734410 [ dbSNP | Ensembl ].
VAR_045940
Natural varianti648 – 6481P → L in ECA6. 1 Publication
VAR_045941
Natural varianti664 – 6641V → A.3 Publications
Corresponds to variant rs4984636 [ dbSNP | Ensembl ].
VAR_045942
Natural varianti684 – 6841P → S.1 Publication
VAR_045943
Natural varianti744 – 7441R → Q in ECA6. 1 Publication
VAR_045944
Natural varianti748 – 7481A → V in ECA6. 1 Publication
VAR_045945
Natural varianti755 – 7551G → D in IGE6. 1 Publication
Corresponds to variant rs142306293 [ dbSNP | Ensembl ].
VAR_066987
Natural varianti773 – 7731G → D in ECA6. 1 Publication
VAR_045946
Natural varianti784 – 7841G → S in ECA6. 1 Publication
VAR_045947
Natural varianti788 – 7881R → C.1 Publication
Corresponds to variant rs3751664 [ dbSNP | Ensembl ].
VAR_045948
Natural varianti812 – 8121V → M.
Corresponds to variant rs28365119 [ dbSNP | Ensembl ].
VAR_045949
Natural varianti831 – 8311V → M in ECA6. 1 Publication
VAR_045950
Natural varianti848 – 8481G → S in ECA6. 1 Publication
VAR_045951
Natural varianti1463 – 14631D → N in ECA6. 1 Publication
VAR_045952
Natural varianti1871 – 18711R → Q.
Corresponds to variant rs58124832 [ dbSNP | Ensembl ].
VAR_061104
Natural varianti1974 – 19741E → G.
Corresponds to variant rs3751886 [ dbSNP | Ensembl ].
VAR_033698
Natural varianti2060 – 20601R → H.2 Publications
Corresponds to variant rs1054644 [ dbSNP | Ensembl ].
VAR_045953
Natural varianti2077 – 20771R → H.3 Publications
Corresponds to variant rs1054645 [ dbSNP | Ensembl ].
VAR_045954
Natural varianti2173 – 21731P → S.1 Publication
Corresponds to variant rs200675829 [ dbSNP | Ensembl ].
VAR_045955

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1587 – 15937STFPSPE → K in isoform 2. 1 PublicationVSP_000949

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.3. human. [O95180-1]
uc002ckt.3. human. [O95180-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
UniGenei Hs.459642.

3D structure databases

ProteinModelPortali O95180.
SMRi O95180. Positions 96-253, 361-431, 795-1031, 1296-1583, 1623-1875.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114426. 3 interactions.
IntActi O95180. 2 interactions.
STRINGi 9606.ENSP00000334198.

Chemistry

BindingDBi O95180.
ChEMBLi CHEMBL2363032.
DrugBanki DB01118. Amiodarone.
DB01244. Bepridil.
DB00568. Cinnarizine.
DB01023. Felodipine.
DB04841. Flunarizine.
DB00270. Isradipine.
DB01115. Nifedipine.
DB01054. Nitrendipine.
DB00421. Spironolactone.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi 536.

Protein family/group databases

TCDBi 1.A.1.11.5. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei O95180.

Proteomic databases

PaxDbi O95180.
PRIDEi O95180.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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.3. human. [O95180-1 ]
uc002ckt.3. human. [O95180-2 ]

Organism-specific databases

CTDi 8912.
GeneCardsi GC16P001203.
H-InvDB HIX0038538.
HGNCi HGNC:1395. CACNA1H.
HPAi HPA039125.
MIMi 607904. gene.
611942. phenotype.
neXtProti NX_O95180.
Orphaneti 64280. Childhood absence epilepsy.
PharmGKBi PA380.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
GeneTreei ENSGT00760000118827.
HOVERGENi HBG050764.
InParanoidi O95180.
KOi K04855.
OMAi GRADEQW.
OrthoDBi EOG7MKW55.
PhylomeDBi O95180.
TreeFami TF313555.

Enzyme and pathway databases

Reactomei REACT_18312. NCAM1 interactions.

Miscellaneous databases

ChiTaRSi CACNA1H. human.
GeneWikii CACNA1H.
GenomeRNAii 8912.
NextBioi 33494.
PROi O95180.
SOURCEi Search...

Gene expression databases

Bgeei O95180.
CleanExi HS_CACNA1H.
ExpressionAtlasi O95180. baseline and differential.
Genevestigatori O95180.

Family and domain databases

Gene3Di 1.20.120.350. 4 hits.
InterProi IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR005445. VDCC_T_a1su.
[Graphical view ]
Pfami PF00520. Ion_trans. 4 hits.
[Graphical view ]
PRINTSi PR01629. TVDCCALPHA1.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family."
    Cribbs L.L., Lee J.-H., Yang J., Satin J., Zhang Y., Daud A.N., Barclay J., Wiliamson M.P., Fox M., Rees M., Perez-Reyes E.
    Circ. Res. 83:103-109(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-664.
    Tissue: Heart.
  2. Cribbs L.L., Lee J.-H., Yang J., Daud A.N., Perez-Reyes E.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Structure and functional characterization of a novel human low-voltage activated calcium channel."
    Williams M.E., Washburn M.S., Hans M., Urrutia A., Brust P.F., Prodanovich P., Harpold M.M., Stauderman K.A.
    J. Neurochem. 72:791-799(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HIS-2077.
    Tissue: Thyroid carcinoma.
  4. "Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms."
    Jagannathan S., Punt E.L., Gu Y., Arnoult C., Sakkas D., Barratt C.L., Publicover S.J.
    J. Biol. Chem. 277:8449-8456(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ALA-664.
    Tissue: Testis.
  5. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
    Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
    Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS VAL-313 AND HIS-2060.
  6. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-313.
  7. "Organization and alternative splicing of CACNA1H."
    Mittman S., Agnew W.S.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 424-661 AND 838-2373 (ISOFORM 1), VARIANTS LEU-640 AND HIS-2077.
  8. "Structural determinants of the high affinity extracellular zinc binding site on Cav3.2 T-type calcium channels."
    Kang H.W., Vitko I., Lee S.S., Perez-Reyes E., Lee J.H.
    J. Biol. Chem. 285:3271-3281(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: ZINC-BINDING SITES.
  9. "Association between genetic variation of CACNA1H and childhood absence epilepsy."
    Chen Y., Lu J., Pan H., Zhang Y., Wu H., Xu K., Liu X., Jiang Y., Bao X., Yao Z., Ding K., Lo W.H., Qiang B., Chan P., Shen Y., Wu X.
    Ann. Neurol. 54:239-243(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ECA6 LEU-161; LYS-282; SER-456; SER-499; LEU-648; GLN-744; VAL-748; ASP-773; SER-784; MET-831; SER-848 AND ASN-1463, VARIANTS VAL-313; LEU-640; ALA-664; SER-684; CYS-788; HIS-2060; HIS-2077 AND SER-2173.
  10. Cited for: VARIANTS IGE6 LEU-618 AND ASP-755.

Entry informationi

Entry nameiCAC1H_HUMAN
AccessioniPrimary (citable) accession number: O95180
Secondary accession number(s): B5ME00
, F8WFD1, O95802, Q8WWI6, Q96QI6, Q96RZ9, Q9NYY4, Q9NYY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: September 19, 2002
Last modified: October 29, 2014
This is version 142 of the entry and version 4 of the sequence. [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 chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3