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O95180

- CAC1H_HUMAN

UniProt

O95180 - CAC1H_HUMAN

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
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 4 (19 Sep 2002)
      Previous versions | rss
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    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

    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

    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

    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

    ArrayExpressiO95180.
    BgeeiO95180.
    CleanExiHS_CACNA1H.
    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 100100CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini120 – 14122ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini161 – 1699CytoplasmicSequence Analysis
    Topological domaini185 – 1939ExtracellularSequence Analysis
    Topological domaini213 – 23220CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini254 – 394141ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini420 – 793374CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini815 – 82713ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini850 – 8556CytoplasmicSequence Analysis
    Topological domaini875 – 8828ExtracellularSequence Analysis
    Topological domaini907 – 91711CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini939 – 99052ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1016 – 1290275CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1314 – 133118ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1353 – 136210CytoplasmicSequence Analysis
    Topological domaini1383 – 139614ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1419 – 142810CytoplasmicSequence Analysis
    Topological domaini1453 – 152977ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1556 – 161661CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1638 – 165114ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1674 – 16807CytoplasmicSequence Analysis
    Topological domaini1700 – 171314ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1738 – 175114CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1773 – 183563ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1864 – 2353490CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei101 – 11919Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei142 – 16019Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei170 – 18415Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei194 – 21219Helical; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei233 – 25321Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei395 – 41925Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei794 – 81421Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei828 – 84922Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei856 – 87419Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei883 – 90624Helical; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei918 – 93821Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei991 – 101525Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1291 – 131323Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1332 – 135221Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1363 – 138220Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1397 – 141822Helical; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1429 – 145224Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1530 – 155526Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1617 – 163721Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1652 – 167322Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1681 – 169919Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1714 – 173724Helical; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1752 – 177221Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1836 – 186328Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    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.
    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

    MTEGARAADE VRVPLGAPPP GPAALVGASP ESPGAPGREA ERGSELGVSP     50
    SESPAAERGA ELGADEEQRV PYPALAATVF FCLGQTTRPR SWCLRLVCNP 100
    WFEHVSMLVI MLNCVTLGMF RPCEDVECGS ERCNILEAFD AFIFAFFAVE 150
    MVIKMVALGL FGQKCYLGDT WNRLDFFIVV AGMMEYSLDG HNVSLSAIRT 200
    VRVLRPLRAI NRVPSMRILV TLLLDTLPML GNVLLLCFFV FFIFGIVGVQ 250
    LWAGLLRNRC FLDSAFVRNN NLTFLRPYYQ TEEGEENPFI CSSRRDNGMQ 300
    KCSHIPGRRE LRMPCTLGWE AYTQPQAEGV GAARNACINW NQYYNVCRSG 350
    DSNPHNGAIN FDNIGYAWIA IFQVITLEGW VDIMYYVMDA HSFYNFIYFI 400
    LLIIVGSFFM INLCLVVIAT QFSETKQRES QLMREQRARH LSNDSTLASF 450
    SEPGSCYEEL LKYVGHIFRK VKRRSLRLYA RWQSRWRKKV DPSAVQGQGP 500
    GHRQRRAGRH TASVHHLVYH HHHHHHHHYH FSHGSPRRPG PEPGACDTRL 550
    VRAGAPPSPP SPGRGPPDAE SVHSIYHADC HIEGPQERAR VAHAAATAAA 600
    SLRLATGLGT MNYPTILPSG VGSGKGSTSP GPKGKWAGGP PGTGGHGPLS 650
    LNSPDPYEKI PHVVGEHGLG QAPGHLSGLS VPCPLPSPPA GTLTCELKSC 700
    PYCTRALEDP EGELSGSESG DSDGRGVYEF TQDVRHGDRW DPTRPPRATD 750
    TPGPGPGSPQ RRAQQRAAPG EPGWMGRLWV TFSGKLRRIV DSKYFSRGIM 800
    MAILVNTLSM GVEYHEQPEE LTNALEISNI VFTSMFALEM LLKLLACGPL 850
    GYIRNPYNIF DGIIVVISVW EIVGQADGGL SVLRTFRLLR VLKLVRFLPA 900
    LRRQLVVLVK TMDNVATFCT LLMLFIFIFS ILGMHLFGCK FSLKTDTGDT 950
    VPDRKNFDSL LWAIVTVFQI LTQEDWNVVL YNGMASTSSW AALYFVALMT 1000
    FGNYVLFNLL VAILVEGFQA EGDANRSDTD EDKTSVHFEE DFHKLRELQT 1050
    TELKMCSLAV TPNGHLEGRG SLSPPLIMCT AATPMPTPKS SPFLDAAPSL 1100
    PDSRRGSSSS GDPPLGDQKP PASLRSSPCA PWGPSGAWSS RRSSWSSLGR 1150
    APSLKRRGQC GERESLLSGE GKGSTDDEAE DGRAAPGPRA TPLRRAESLD 1200
    PRPLRPAALP PTKCRDRDGQ VVALPSDFFL RIDSHREDAA ELDDDSEDSC 1250
    CLRLHKVLEP YKPQWCRSRE AWALYLFSPQ NRFRVSCQKV ITHKMFDHVV 1300
    LVFIFLNCVT IALERPDIDP GSTERVFLSV SNYIFTAIFV AEMMVKVVAL 1350
    GLLSGEHAYL QSSWNLLDGL LVLVSLVDIV VAMASAGGAK ILGVLRVLRL 1400
    LRTLRPLRVI SRAPGLKLVV ETLISSLRPI GNIVLICCAF FIIFGILGVQ 1450
    LFKGKFYYCE GPDTRNISTK AQCRAAHYRW VRRKYNFDNL GQALMSLFVL 1500
    SSKDGWVNIM YDGLDAVGVD QQPVQNHNPW MLLYFISFLL IVSFFVLNMF 1550
    VGVVVENFHK CRQHQEAEEA RRREEKRLRR LERRRRSTFP SPEAQRRPYY 1600
    ADYSPTRRSI HSLCTSHYLD LFITFIICVN VITMSMEHYN QPKSLDEALK 1650
    YCNYVFTIVF VFEAALKLVA FGFRRFFKDR WNQLDLAIVL LSLMGITLEE 1700
    IEMSAALPIN PTIIRIMRVL RIARVLKLLK MATGMRALLD TVVQALPQVG 1750
    NLGLLFMLLF FIYAALGVEL FGRLECSEDN PCEGLSRHAT FSNFGMAFLT 1800
    LFRVSTGDNW NGIMKDTLRE CSREDKHCLS YLPALSPVYF VTFVLVAQFV 1850
    LVNVVVAVLM KHLEESNKEA REDAELDAEI ELEMAQGPGS ARRVDADRPP 1900
    LPQESPGARD APNLVARKVS VSRMLSLPND SYMFRPVVPA SAPHPRPLQE 1950
    VEMETYGAGT PLGSVASVHS PPAESCASLQ IPLAVSSPAR SGEPLHALSP 2000
    RGTARSPSLS RLLCRQEAVH TDSLEGKIDS PRDTLDPAEP GEKTPVRPVT 2050
    QGGSLQSPPR SPRPASVRTR KHTFGQRCVS SRPAAPGGEE AEASDPADEE 2100
    VSHITSSACP WQPTAEPHGP EASPVAGGER DLRRLYSVDA QGFLDKPGRA 2150
    DEQWRPSAEL GSGEPGEAKA WGPEAEPALG ARRKKKMSPP CISVEPPAED 2200
    EGSARPSAAE GGSTTLRRRT PSCEATPHRD SLEPTEGSGA GGDPAAKGER 2250
    WGQASCRAEH LTVPSFAFEP LDLGVPSGDP FLDGSHSVTP ESRASSSGAI 2300
    VPLEPPESEP PMPVGDPPEK RRGLYLTVPQ CPLEKPGSPS ATPAPGGGAD 2350
    DPV 2353
    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.
    The sequence CAC42094.1 differs from that shown. Reason: Erroneous gene model prediction.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 DB04841. Flunarizine.
    DB01388. Mibefradil.
    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.
    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

    ArrayExpressi O95180.
    Bgeei O95180.
    CleanExi HS_CACNA1H.
    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

    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 1, 2014
    This is version 141 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