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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 permeability By similarity
Sitei974 – 9741Calcium ion selectivity and permeability By similarity
Sitei1504 – 15041Calcium ion selectivity and permeability By similarity
Sitei1808 – 18081Calcium ion selectivity and permeability By 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 – 100100Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei101 – 11919Helical; Name=S1 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini120 – 14122Extracellular Reviewed prediction
Add
BLAST
Transmembranei142 – 16019Helical; Name=S2 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini161 – 1699Cytoplasmic Reviewed prediction
Transmembranei170 – 18415Helical; Name=S3 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini185 – 1939Extracellular Reviewed prediction
Transmembranei194 – 21219Helical; Name=S4 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini213 – 23220Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei233 – 25321Helical; Name=S5 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini254 – 394141Extracellular Reviewed prediction
Add
BLAST
Transmembranei395 – 41925Helical; Name=S6 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini420 – 793374Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei794 – 81421Helical; Name=S1 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini815 – 82713Extracellular Reviewed prediction
Add
BLAST
Transmembranei828 – 84922Helical; Name=S2 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini850 – 8556Cytoplasmic Reviewed prediction
Transmembranei856 – 87419Helical; Name=S3 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini875 – 8828Extracellular Reviewed prediction
Transmembranei883 – 90624Helical; Name=S4 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini907 – 91711Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei918 – 93821Helical; Name=S5 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini939 – 99052Extracellular Reviewed prediction
Add
BLAST
Transmembranei991 – 101525Helical; Name=S6 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini1016 – 1290275Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1291 – 131323Helical; Name=S1 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1314 – 133118Extracellular Reviewed prediction
Add
BLAST
Transmembranei1332 – 135221Helical; Name=S2 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1353 – 136210Cytoplasmic Reviewed prediction
Transmembranei1363 – 138220Helical; Name=S3 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1383 – 139614Extracellular Reviewed prediction
Add
BLAST
Transmembranei1397 – 141822Helical; Name=S4 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1419 – 142810Cytoplasmic Reviewed prediction
Transmembranei1429 – 145224Helical; Name=S5 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1453 – 152977Extracellular Reviewed prediction
Add
BLAST
Transmembranei1530 – 155526Helical; Name=S6 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1556 – 161661Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1617 – 163721Helical; Name=S1 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1638 – 165114Extracellular Reviewed prediction
Add
BLAST
Transmembranei1652 – 167322Helical; Name=S2 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1674 – 16807Cytoplasmic Reviewed prediction
Transmembranei1681 – 169919Helical; Name=S3 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1700 – 171314Extracellular Reviewed prediction
Add
BLAST
Transmembranei1714 – 173724Helical; Name=S4 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1738 – 175114Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1752 – 177221Helical; Name=S5 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1773 – 183563Extracellular Reviewed prediction
Add
BLAST
Transmembranei1836 – 186328Helical; Name=S6 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1864 – 2353490Cytoplasmic Reviewed prediction
Add
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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
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-1H
PRO_0000053954Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati87 – 422336I
Add
BLAST
Repeati779 – 1018240II
Add
BLAST
Repeati1281 – 1558278III
Add
BLAST
Repeati1602 – 1863262IV
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi520 – 53011Poly-His
Add
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.

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.
VSP_000949

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71A → S in AC120498. 1 Publication
Sequence conflicti31 – 311E → K in AC120498. 1 Publication
Sequence conflicti55 – 551A → S in AC120498. 1 Publication
Sequence conflicti94 – 941L → V in AC120498. 1 Publication
Sequence conflicti215 – 2151S → T in CAC42094. 1 Publication
Isoform 2 (identifier: O95180-2)
Sequence conflicti1587 – 15871K → E in CAD12646. 1 Publication

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

« 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: September 3, 2014
This is version 140 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

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