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Q13936

- CAC1C_HUMAN

UniProt

Q13936 - CAC1C_HUMAN

Protein

Voltage-dependent L-type calcium channel subunit alpha-1C

Gene

CACNA1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 4 (05 Oct 2010)
      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-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.6 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei363 – 3631Calcium ion selectivity and permeability
    Sitei706 – 7061Calcium ion selectivity and permeability
    Sitei1135 – 11351Calcium ion selectivity and permeability
    Sitei1464 – 14641Calcium ion selectivity and permeability

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi1553 – 156412By similarityAdd
    BLAST

    GO - Molecular functioni

    1. alpha-actinin binding Source: BHF-UCL
    2. calmodulin binding Source: UniProtKB
    3. high voltage-gated calcium channel activity Source: RefGenome
    4. metal ion binding Source: UniProtKB-KW
    5. protein binding Source: UniProtKB
    6. voltage-gated calcium channel activity Source: UniProtKB

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. axon guidance Source: Reactome
    3. calcium ion-dependent exocytosis Source: Ensembl
    4. calcium ion import Source: RefGenome
    5. calcium ion transport into cytosol Source: BHF-UCL
    6. calcium-mediated signaling using extracellular calcium source Source: BHF-UCL
    7. cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
    8. energy reserve metabolic process Source: Reactome
    9. glucose homeostasis Source: Ensembl
    10. growth hormone secretion Source: Ensembl
    11. insulin secretion Source: Ensembl
    12. membrane depolarization during action potential Source: RefGenome
    13. positive regulation of cytosolic calcium ion concentration Source: UniProtKB
    14. regulation of blood pressure Source: Ensembl
    15. regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
    16. regulation of insulin secretion Source: Reactome
    17. regulation of organ growth Source: Ensembl
    18. regulation of vasoconstriction Source: Ensembl
    19. small molecule metabolic process Source: Reactome
    20. smooth muscle contraction involved in micturition Source: Ensembl
    21. synaptic transmission Source: Ensembl
    22. visual learning Source: Ensembl

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_18312. NCAM1 interactions.
    REACT_18325. Regulation of insulin secretion.
    REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.

    Protein family/group databases

    TCDBi1.A.1.11.4. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1C
    Alternative name(s):
    Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
    Voltage-gated calcium channel subunit alpha Cav1.2
    Gene namesi
    Name:CACNA1C
    Synonyms:CACH2, CACN2, CACNL1A1, CCHL1A1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:1390. CACNA1C.

    Subcellular locationi

    Membrane; Multi-pass membrane protein. Cell membrane By similarity
    Note: The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane.By similarity

    GO - Cellular componenti

    1. caveolar macromolecular signaling complex Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. dendritic shaft Source: Ensembl
    4. integral component of membrane Source: UniProtKB
    5. neuronal cell body Source: Ensembl
    6. plasma membrane Source: UniProtKB
    7. postsynaptic density Source: UniProtKB
    8. voltage-gated calcium channel complex Source: UniProtKB
    9. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Timothy syndrome (TS) [MIM:601005]: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti402 – 4021G → S in TS. 1 Publication
    VAR_026741
    Natural varianti406 – 4061G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication
    VAR_026742
    Brugada syndrome 3 (BRGDA3) [MIM:611875]: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391A → V in BRGDA3; loss of function. 1 Publication
    VAR_044039
    Natural varianti490 – 4901G → R in BRGDA3; loss of function. 1 Publication
    VAR_044040

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi363 – 3631E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication
    Mutagenesisi954 – 9541G → F: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958. 2 Publications
    Mutagenesisi958 – 9581Y → I: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954. 2 Publications
    Mutagenesisi1135 – 11351E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication
    Mutagenesisi1464 – 14641E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication

    Keywords - Diseasei

    Brugada syndrome, Disease mutation

    Organism-specific databases

    MIMi601005. phenotype.
    611875. phenotype.
    Orphaneti130. Brugada syndrome.
    65283. Timothy syndrome.
    PharmGKBiPA83.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 22212221Voltage-dependent L-type calcium channel subunit alpha-1CPRO_0000053928Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi153 – 1531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi328 – 3281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1436 – 14361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1487 – 14871N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1535 – 15351Phosphoserine; by PKASequence Analysis
    Modified residuei1973 – 19731Phosphoserine; by PKASequence Analysis
    Modified residuei1981 – 19811Phosphoserine; by PKASequence Analysis

    Post-translational modificationi

    Phosphorylation by PKA activates the channel.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ13936.
    PRIDEiQ13936.

    PTM databases

    PhosphoSiteiQ13936.

    Expressioni

    Tissue specificityi

    Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle.3 Publications

    Gene expression databases

    BgeeiQ13936.
    GenevestigatoriQ13936.

    Organism-specific databases

    HPAiHPA039796.

    Interactioni

    Subunit structurei

    Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with CACNA2D4. Interacts (via the N-terminus and the C-terminal C and IQ motifs) with CABP1. The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium-dependent manner By similarity. Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CABP1Q9NZU74EBI-1038838,EBI-907894
    CALM3P6215812EBI-1038838,EBI-397435

    Protein-protein interaction databases

    BioGridi107229. 15 interactions.
    DIPiDIP-29589N.
    IntActiQ13936. 4 interactions.

    Structurei

    Secondary structure

    1
    2221
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi48 – 6518
    Helixi429 – 44214
    Helixi1609 – 165143
    Turni1661 – 16633
    Helixi1666 – 168015

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1T0JX-ray2.00C428-445[»]
    2BE6X-ray2.00D/E/F1659-1692[»]
    2F3YX-ray1.45B1665-1685[»]
    2F3ZX-ray1.60B1665-1685[»]
    2LQCNMR-B47-68[»]
    3G43X-ray2.10E/F1609-1682[»]
    3OXQX-ray2.55E/F1609-1685[»]
    ProteinModelPortaliQ13936.
    SMRiQ13936. Positions 128-447, 521-808, 891-1186, 1228-1525, 1608-1688.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ13936.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 124124CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini144 – 16017ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini182 – 19312CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini213 – 23220ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini252 – 27019CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini291 – 38090ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini406 – 524119CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini544 – 55815ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini579 – 5868CytoplasmicSequence Analysis
    Topological domaini606 – 61510ExtracellularSequence Analysis
    Topological domaini635 – 65319CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini674 – 72855ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini754 – 900147CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini920 – 93516ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini956 – 98732CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1007 – 10137ExtracellularSequence Analysis
    Topological domaini1033 – 105119CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1072 – 116190ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1187 – 123953CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1259 – 127315ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1294 – 13018CytoplasmicSequence Analysis
    Topological domaini1321 – 137252ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1392 – 141019CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1431 – 149969ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1525 – 2221697CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei125 – 14319Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei161 – 18121Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei194 – 21219Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei233 – 25119Helical; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei271 – 29020Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei381 – 40525Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei525 – 54319Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei559 – 57820Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei587 – 60519Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei616 – 63419Helical; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei654 – 67320Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei729 – 75325Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei901 – 91919Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei936 – 95520Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei988 – 100619Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1014 – 103219Helical; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1052 – 107120Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1162 – 118625Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1240 – 125819Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1274 – 129320Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1302 – 132019Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1373 – 139119Helical; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1411 – 143020Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1500 – 152425Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati111 – 408298IAdd
    BLAST
    Repeati510 – 756247IIAdd
    BLAST
    Repeati887 – 1189303IIIAdd
    BLAST
    Repeati1226 – 1527302IVAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni428 – 44518Binding to the beta subunitBy similarityAdd
    BLAST
    Regioni1109 – 119991Dihydropyridine bindingBy similarityAdd
    BLAST
    Regioni1478 – 154669Dihydropyridine bindingBy similarityAdd
    BLAST
    Regioni1492 – 153544Phenylalkylamine bindingBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi654 – 6607Poly-Leu
    Compositional biasi768 – 7747Poly-Glu
    Compositional biasi1167 – 11737Poly-Ile
    Compositional biasi2084 – 20874Poly-Gly

    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.
    Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOVERGENiHBG050763.
    KOiK04850.
    PhylomeDBiQ13936.
    TreeFamiTF312805.

    Family and domain databases

    Gene3Di1.20.120.350. 6 hits.
    InterProiIPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR014873. VDCC_a1su_IQ.
    IPR005451. VDCC_L_a1csu.
    IPR005446. VDCC_L_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view]
    PfamiPF08763. Ca_chan_IQ. 1 hit.
    PF00520. Ion_trans. 5 hits.
    [Graphical view]
    PRINTSiPR00167. CACHANNEL.
    PR01630. LVDCCALPHA1.
    PR01635. LVDCCALPHA1C.
    SMARTiSM01062. Ca_chan_IQ. 1 hit.
    [Graphical view]

    Sequences (37)i

    Sequence statusi: Complete.

    This entry describes 37 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist. Exons 8A, 21, 22, 31, 32, 33, 40B, 43A, 41A and 45 are alternatively spliced in a variety of combinations. Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q13936-1) [UniParc]FASTAAdd to Basket

    Also known as: HFCC, Fibroblast

    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

    MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL     50
    SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP 100
    PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED 150
    DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF 200
    IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG 250
    VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 300
    QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA 350
    FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV 400
    LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE 450
    NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS 500
    KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN 550
    WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI 600
    LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS 650
    IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF 700
    QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA 750
    IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK 800
    EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE 850
    PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT 900
    IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL 950
    KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS 1000
    LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG 1050
    NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE 1100
    VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE 1150
    DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC 1200
    ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL 1250
    LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS 1300
    DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE 1350
    VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT 1400
    FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF 1450
    PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA 1500
    VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA 1550
    EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS 1600
    DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD 1650
    QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ 1700
    AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL 1750
    FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST 1800
    FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI 1850
    RVQEVAWKLS SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRKANPSRCH 1900
    SRESQAAMAG QEETSQDETY EVKMNHDTEA CSEPSLLSTE MLSYQDDENR 1950
    QLTLPEEDKR DIRQSPKRGF LRSASLGRRA SFHLECLKRQ KDRGGDISQK 2000
    TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA TPGSRGWPPQ 2050
    PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPVSLM 2100
    VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC 2150
    DMTIEEMESA ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV 2200
    RARGRPSEEE LQDSRVYVSS L 2221
    Length:2,221
    Mass (Da):248,977
    Last modified:October 5, 2010 - v4
    Checksum:i7E755F7AF4C86769
    GO
    Isoform 2 (identifier: Q13936-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

    Show »
    Length:2,257
    Mass (Da):252,507
    Checksum:iDF66240B243CFD41
    GO
    Isoform 3 (identifier: Q13936-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF

    Note: Contains exon 8a.

    Show »
    Length:2,221
    Mass (Da):248,995
    Checksum:iBE971E1A74A4F9AF
    GO
    Isoform 4 (identifier: Q13936-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.

    Note: Lacks exon 21.

    Show »
    Length:2,201
    Mass (Da):246,587
    Checksum:iE930E8FDB611A310
    GO
    Isoform 5 (identifier: Q13936-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.

    Note: Lacks exon 22.

    Show »
    Length:2,201
    Mass (Da):246,724
    Checksum:i491524D070A5EF23
    GO
    Isoform 6 (identifier: Q13936-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1297-1324: Missing.

    Note: Lacks exon 31.

    Show »
    Length:2,193
    Mass (Da):245,820
    Checksum:i7661E18AB73EB11D
    GO
    Isoform 7 (identifier: Q13936-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1325-1352: Missing.

    Note: Lacks exon 32.

    Show »
    Length:2,193
    Mass (Da):245,868
    Checksum:i3E74F4FE1EFDC425
    GO
    Isoform 8 (identifier: Q13936-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1353-1363: Missing.

    Note: Lacks exon 33.

    Show »
    Length:2,210
    Mass (Da):247,807
    Checksum:iD48DBFDEFBEDF3DC
    GO
    Isoform 9 (identifier: Q13936-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF

    Note: Contains exon 40B and 43A.

    Show »
    Length:2,222
    Mass (Da):248,607
    Checksum:iD861F6A49A1E0B80
    GO
    Isoform 10 (identifier: Q13936-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA

    Note: Contains exon 41A.

    Show »
    Length:2,240
    Mass (Da):250,938
    Checksum:iE8571E4C44FB3786
    GO
    Isoform 11 (identifier: Q13936-11) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.90

    The sequence of this isoform differs from the canonical sequence as follows:
         1864-1898: Missing.

    Note: Lacks exon 45.

    Show »
    Length:2,186
    Mass (Da):245,047
    Checksum:iE8D9E8F0FFDC1A4D
    GO
    Isoform 12 (identifier: Q13936-12) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.70

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1297-1324: Missing.
         1864-1898: Missing.

    Show »
    Length:2,138
    Mass (Da):239,638
    Checksum:i200DA905F439D369
    GO
    Isoform 13 (identifier: Q13936-13) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.127

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1325-1352: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,157
    Mass (Da):241,647
    Checksum:i1153EEBBE8CE80B3
    GO
    Isoform 14 (identifier: Q13936-14) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.126

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1297-1324: Missing.
         1363-1363: M → MGPSCSHPPLAVLTAPPVADGFQ
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,179
    Mass (Da):243,742
    Checksum:i3826188216441CBC
    GO
    Isoform 15 (identifier: Q13936-15) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.125

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1297-1324: Missing.
         1351-1363: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,144
    Mass (Da):240,216
    Checksum:iDB5FAF45ABBB5029
    GO
    Isoform 16 (identifier: Q13936-16) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: Missing.
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1325-1352: Missing.

    Show »
    Length:2,144
    Mass (Da):240,337
    Checksum:iC12EBA539FF14497
    GO
    Isoform 17 (identifier: Q13936-17) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: Missing.
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1325-1352: Missing.
         1864-1898: Missing.

    Show »
    Length:2,109
    Mass (Da):236,407
    Checksum:iC55728B593C24297
    GO
    Isoform 18 (identifier: Q13936-18) [UniParc]FASTAAdd to Basket

    Also known as: HHT-1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: Missing.
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1325-1352: Missing.
         1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

    Show »
    Length:2,180
    Mass (Da):243,867
    Checksum:iBDAC026FE2CACCDF
    GO
    Isoform 19 (identifier: Q13936-19) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.76

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.
         1353-1363: Missing.
         1864-1898: Missing.

    Show »
    Length:2,127
    Mass (Da):238,331
    Checksum:i8F48E5719F6E9E1A
    GO
    Isoform 20 (identifier: Q13936-20) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.77

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.
         1864-1898: Missing.

    Note: Predominant isoform in atherosclerotic vascular smooth muscle cells.

    Show »
    Length:2,138
    Mass (Da):239,501
    Checksum:iD79ED1D29A7A8BC4
    GO
    Isoform 21 (identifier: Q13936-21) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.69

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1325-1352: Missing.
         1864-1898: Missing.

    Show »
    Length:2,138
    Mass (Da):239,549
    Checksum:i543CE8B026838D86
    GO
    Isoform 22 (identifier: Q13936-22) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.78

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1325-1352: Missing.
         1864-1898: Missing.

    Show »
    Length:2,138
    Mass (Da):239,686
    Checksum:iA3AF906748C0D52B
    GO
    Isoform 23 (identifier: Q13936-23) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.105

    The sequence of this isoform differs from the canonical sequence as follows:
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         932-951: Missing.
         1297-1324: Missing.
         1864-1898: Missing.

    Show »
    Length:2,138
    Mass (Da):239,519
    Checksum:i5CB0952B62394E78
    GO
    Isoform 24 (identifier: Q13936-24) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.71

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1297-1324: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,157
    Mass (Da):241,599
    Checksum:iC4AAB050CF536648
    GO
    Isoform 25 (identifier: Q13936-25) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.73

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1297-1324: Missing.
         1353-1363: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,146
    Mass (Da):240,430
    Checksum:iAA7E9FA59B52D8F8
    GO
    Isoform 26 (identifier: Q13936-26) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.86

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.
         1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF
         1864-1898: Missing.

    Note: Not inhibited by calcium.Curated

    Show »
    Length:2,139
    Mass (Da):239,131
    Checksum:i6EB51667F5ABD712
    GO
    Isoform 27 (identifier: Q13936-27) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.72

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,157
    Mass (Da):241,462
    Checksum:iC2DE4EA2A12B1F77
    GO
    Isoform 28 (identifier: Q13936-28) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: Missing.
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1297-1324: Missing.
         1353-1363: Missing.
         1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

    Show »
    Length:2,169
    Mass (Da):242,650
    Checksum:i53DBBEE14BEAB4C6
    GO
    Isoform 29 (identifier: Q13936-29) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.74

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.
         1353-1363: Missing.
         1623-1623: E → EEGPSPSEAHQGAEDPFRPA
         1864-1898: Missing.

    Show »
    Length:2,146
    Mass (Da):240,292
    Checksum:iAEAF038ED91C729C
    GO
    Isoform 30 (identifier: Q13936-30) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.87

    The sequence of this isoform differs from the canonical sequence as follows:
         1297-1324: Missing.
         1864-1898: Missing.

    Show »
    Length:2,158
    Mass (Da):241,891
    Checksum:iFB21849EC28ABB24
    GO
    Isoform 31 (identifier: Q13936-31) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.88

    The sequence of this isoform differs from the canonical sequence as follows:
         952-971: Missing.
         1864-1898: Missing.

    Show »
    Length:2,166
    Mass (Da):242,794
    Checksum:i0929EBBC4916E1F2
    GO
    Isoform 32 (identifier: Q13936-32) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.89

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1353-1363: Missing.
         1864-1898: Missing.

    Show »
    Length:2,155
    Mass (Da):241,488
    Checksum:iF62ACB4D54FC4180
    GO
    Isoform 33 (identifier: Q13936-33) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C.85

    The sequence of this isoform differs from the canonical sequence as follows:
         932-951: Missing.
         1297-1324: Missing.

    Show »
    Length:2,173
    Mass (Da):243,430
    Checksum:iEA4530716379E381
    GO
    Isoform 34 (identifier: Q13936-34) [UniParc]FASTAAdd to Basket

    Also known as: Alpha-1C,long-NT

    The sequence of this isoform differs from the canonical sequence as follows:
         1-16: MVNENTRMYIPEENHQ → MLRAFVQPGTPAYQPLPSHLSANTEVKFKGTLVHEAQLNYFYISPG

    Note: Enhanced by PKC activator.

    Show »
    Length:2,251
    Mass (Da):252,091
    Checksum:i2A9D55B23A501120
    GO
    Isoform 35 (identifier: Q13936-35) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         306-308: Missing.
         952-971: Missing.
         1325-1352: Missing.
         1864-1898: Missing.

    Show »
    Length:2,135
    Mass (Da):239,375
    Checksum:iFB695F875A7F2449
    GO
    Isoform 36 (identifier: Q13936-36) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1325-1352: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:2,173
    Mass (Da):243,633
    Checksum:i4819FD32FA521438
    GO
    Isoform 37 (identifier: Q13936-37) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
         952-971: Missing.
         1325-1352: Missing.
         1864-1898: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:2,138
    Mass (Da):239,704
    Checksum:i2881D49EB0831097
    GO

    Sequence cautioni

    The sequence AAA02500.2 differs from that shown. Reason: Frameshift at position 1844.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1072 – 10721K → Q in Z26272. (PubMed:7959794)Curated
    Sequence conflicti1157 – 11571N → K in AAA58409. (PubMed:1653763)Curated
    Sequence conflicti1244 – 12441L → P in AAA74590. (PubMed:1335957)Curated
    Sequence conflicti1384 – 13841L → P in AAA74590. (PubMed:1335957)Curated
    Sequence conflicti1412 – 14121A → V in AAI46847. (PubMed:15489334)Curated
    Sequence conflicti1459 – 14591R → K in CAA81219. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84340. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84341. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84342. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84343. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84344. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84345. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84346. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84347. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84348. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84349. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84350. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA84351. (PubMed:7959794)Curated
    Sequence conflicti2205 – 22051R → A in CAA12174. (PubMed:9607315)Curated
    Sequence conflicti2205 – 22051R → A in AAX37354. (PubMed:17071743)Curated
    Sequence conflicti2205 – 22051R → A in AAX37355. (PubMed:17071743)Curated
    Sequence conflicti2205 – 22051R → A in AAX37356. (PubMed:17071743)Curated
    Sequence conflicti2205 – 22051R → G in AAA17030. (PubMed:1316612)Curated
    Isoform 26 (identifier: Q13936-26)
    Sequence conflicti1573 – 15731A → T in CAA84348. (PubMed:7959794)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391A → V in BRGDA3; loss of function. 1 Publication
    VAR_044039
    Natural varianti84 – 841Q → R.3 Publications
    Corresponds to variant rs1051345 [ dbSNP | Ensembl ].
    VAR_045987
    Natural varianti391 – 3911I → L.
    Corresponds to variant rs1051356 [ dbSNP | Ensembl ].
    VAR_045988
    Natural varianti402 – 4021G → S in TS. 1 Publication
    VAR_026741
    Natural varianti406 – 4061G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication
    VAR_026742
    Natural varianti490 – 4901G → R in BRGDA3; loss of function. 1 Publication
    VAR_044040
    Natural varianti752 – 7521A → T.
    VAR_001495
    Natural varianti878 – 8781S → R Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication
    VAR_064700
    Natural varianti1868 – 18681P → L.
    Corresponds to variant rs10848683 [ dbSNP | Ensembl ].
    VAR_059223
    Natural varianti1869 – 18691M → V.3 Publications
    Corresponds to variant rs10774053 [ dbSNP | Ensembl ].
    VAR_059224
    Natural varianti1893 – 18931K → R.3 Publications
    Corresponds to variant rs10774054 [ dbSNP | Ensembl ].
    VAR_061102
    Natural varianti2169 – 21691A → T.
    VAR_001496

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2929Missing in isoform 16, isoform 17, isoform 18 and isoform 28. 3 PublicationsVSP_000885Add
    BLAST
    Alternative sequencei1 – 1616MVNEN…EENHQ → MLRAFVQPGTPAYQPLPSHL SANTEVKFKGTLVHEAQLNY FYISPG in isoform 34. 1 PublicationVSP_035146Add
    BLAST
    Alternative sequencei306 – 3083Missing in isoform 35. 1 PublicationVSP_035877
    Alternative sequencei372 – 39120VNDAV…TLIII → MQDAMGYELPWVYFVSLVIF in isoform 3, isoform 16, isoform 17, isoform 18, isoform 23, isoform 28, isoform 36 and isoform 37. 4 PublicationsVSP_000886Add
    BLAST
    Alternative sequencei932 – 95120Missing in isoform 4, isoform 19, isoform 20, isoform 21, isoform 23, isoform 26, isoform 27, isoform 29, isoform 32 and isoform 33. 4 PublicationsVSP_000887Add
    BLAST
    Alternative sequencei952 – 97120Missing in isoform 5, isoform 12, isoform 13, isoform 14, isoform 15, isoform 16, isoform 17, isoform 18, isoform 22, isoform 24, isoform 25, isoform 28, isoform 31, isoform 35, isoform 36 and isoform 37. 8 PublicationsVSP_000888Add
    BLAST
    Alternative sequencei1297 – 132428Missing in isoform 6, isoform 12, isoform 14, isoform 15, isoform 19, isoform 20, isoform 23, isoform 24, isoform 25, isoform 26, isoform 27, isoform 28, isoform 29, isoform 30 and isoform 33. 7 PublicationsVSP_000889Add
    BLAST
    Alternative sequencei1325 – 135228Missing in isoform 7, isoform 13, isoform 16, isoform 17, isoform 18, isoform 21, isoform 22, isoform 35, isoform 36 and isoform 37. 5 PublicationsVSP_000890Add
    BLAST
    Alternative sequencei1351 – 136313Missing in isoform 15. 1 PublicationVSP_022503Add
    BLAST
    Alternative sequencei1353 – 136311Missing in isoform 8, isoform 19, isoform 25, isoform 28, isoform 29 and isoform 32. 4 PublicationsVSP_000891Add
    BLAST
    Alternative sequencei1363 – 13631M → MGPSCSHPPLAVLTAPPVAD GFQ in isoform 14. 1 PublicationVSP_022504
    Alternative sequencei1618 – 169982LRIKT…NALSL → LREAELSSQVQYQAKEASLL ERRRKSSHPKSSTKPNKLLS SGGSTGWVEDARALEGQVLA RGCGWLGSLEERERGPHHPP LGF in isoform 9 and isoform 26. 1 PublicationVSP_000892Add
    BLAST
    Alternative sequencei1623 – 16231E → EEGPSPSEAHQGAEDPFRPA in isoform 10, isoform 13, isoform 14, isoform 15, isoform 24, isoform 25, isoform 27 and isoform 29. 3 PublicationsVSP_000893
    Alternative sequencei1864 – 189835Missing in isoform 11, isoform 12, isoform 13, isoform 14, isoform 15, isoform 17, isoform 19, isoform 20, isoform 21, isoform 22, isoform 23, isoform 24, isoform 25, isoform 26, isoform 27, isoform 29, isoform 30, isoform 31, isoform 32, isoform 35 and isoform 37. 8 PublicationsVSP_000895Add
    BLAST
    Alternative sequencei1864 – 189734ERHVP…KANPS → MHCCDMLDGGTFPPALGPRR APPCLHQQLQGSLAGLREDT PCIVPGHASLCCSSRVGEWL PAGCTAPQHA in isoform 2, isoform 18 and isoform 28. 2 PublicationsVSP_000894Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M92269 Genomic DNA. Translation: AAA17030.1.
    M92270 Genomic DNA. No translation available.
    M92271 Genomic DNA. No translation available.
    M92272 Genomic DNA. No translation available.
    M92273 Genomic DNA. No translation available.
    M92274 Genomic DNA. No translation available.
    M92275 Genomic DNA. No translation available.
    L04568 Genomic DNA. Translation: AAA02500.2. Frameshift.
    L04569 mRNA. Translation: AAA02501.1.
    L29529 mRNA. Translation: AAA51899.1.
    Z26256 Genomic DNA. No translation available.
    Z26257 Genomic DNA. No translation available.
    Z26258 Genomic DNA. No translation available.
    Z26259 Genomic DNA. No translation available.
    Z26260 Genomic DNA. No translation available.
    Z26261 Genomic DNA. No translation available.
    Z26262 Genomic DNA. No translation available.
    Z26263 Genomic DNA. No translation available.
    Z26264 Genomic DNA. No translation available.
    Z26265 Genomic DNA. No translation available.
    Z26266 Genomic DNA. No translation available.
    Z26267 Genomic DNA. No translation available.
    Z26268 Genomic DNA. No translation available.
    Z26269 Genomic DNA. No translation available.
    Z26271 Genomic DNA. No translation available.
    Z26272 Genomic DNA. No translation available.
    Z26273 Genomic DNA. No translation available.
    Z26274 Genomic DNA. No translation available.
    Z26275 Genomic DNA. No translation available.
    Z26276 Genomic DNA. No translation available.
    Z26277 Genomic DNA. No translation available.
    Z26278 Genomic DNA. No translation available.
    Z26279 Genomic DNA. No translation available.
    Z26280 Genomic DNA. No translation available.
    Z26281 Genomic DNA. No translation available.
    Z26282 Genomic DNA. No translation available.
    Z26283 Genomic DNA. No translation available.
    Z26284 Genomic DNA. No translation available.
    Z26286 Genomic DNA. No translation available.
    Z26287 Genomic DNA. No translation available.
    Z26288 Genomic DNA. No translation available.
    Z26294 mRNA. Translation: CAA81218.1.
    Z26295 mRNA. Translation: CAA81219.1.
    Z26308 Genomic DNA. No translation available.
    Z34809 mRNA. Translation: CAA84340.1.
    Z34810 mRNA. Translation: CAA84341.1.
    Z34811 mRNA. Translation: CAA84342.1.
    Z34812 mRNA. Translation: CAA84343.1.
    Z34813 mRNA. Translation: CAA84344.1.
    Z34814 mRNA. Translation: CAA84345.1.
    Z34815 mRNA. Translation: CAA84346.1.
    Z34816 mRNA. Translation: CAA84347.1.
    Z34817 mRNA. Translation: CAA84348.1.
    Z34818 mRNA. Translation: CAA84349.1.
    Z34819 mRNA. Translation: CAA84350.1.
    Z34820 mRNA. Translation: CAA84351.1.
    Z34821 mRNA. Translation: CAA84352.1.
    Z34822 mRNA. Translation: CAA84353.1.
    L29530 Genomic DNA. No translation available.
    L29531 Genomic DNA. No translation available.
    L29532 Genomic DNA. No translation available.
    L29533 Genomic DNA. No translation available.
    L29534 mRNA. Translation: AAA51900.1.
    L29535 Genomic DNA. No translation available.
    L29536 mRNA. Translation: AAA51901.1.
    L29537 Genomic DNA. No translation available.
    L29538 Genomic DNA. No translation available.
    L29539 Genomic DNA. No translation available.
    Z74996 mRNA. Translation: CAA99284.1.
    AJ224873 mRNA. Translation: CAA12174.1.
    AF465484 mRNA. Translation: AAM70049.1.
    AY830711 mRNA. Translation: AAX37354.1.
    AY830712 mRNA. Translation: AAX37355.1.
    AY830713 mRNA. Translation: AAX37356.1.
    AC005293 Genomic DNA. No translation available.
    AC005342 Genomic DNA. No translation available.
    AC005344 Genomic DNA. No translation available.
    AC005414 Genomic DNA. No translation available.
    AC005866 Genomic DNA. No translation available.
    AC006051 Genomic DNA. No translation available.
    AC007618 Genomic DNA. No translation available.
    BC146846 mRNA. Translation: AAI46847.1.
    AY604867 mRNA. Translation: AAT02226.1.
    M57971 mRNA. Translation: AAA62832.1.
    M57972 mRNA. Translation: AAB59461.1.
    M61130 Genomic DNA. Translation: AAA58409.1.
    M91370 Genomic DNA. Translation: AAA74590.1.
    CCDSiCCDS44787.1. [Q13936-23]
    CCDS44788.1. [Q13936-11]
    CCDS44789.1. [Q13936-30]
    CCDS44790.1. [Q13936-31]
    CCDS44791.1. [Q13936-22]
    CCDS44792.1. [Q13936-14]
    CCDS44793.1. [Q13936-24]
    CCDS44794.1. [Q13936-12]
    CCDS44795.1. [Q13936-25]
    CCDS44796.1. [Q13936-15]
    CCDS44797.1. [Q13936-32]
    CCDS44798.1. [Q13936-21]
    CCDS44799.1. [Q13936-27]
    CCDS44800.1. [Q13936-20]
    CCDS44801.1. [Q13936-29]
    CCDS53733.1. [Q13936-36]
    CCDS53734.1. [Q13936-37]
    CCDS53735.1. [Q13936-13]
    CCDS53736.1. [Q13936-33]
    PIRiA23660.
    A44363.
    A45290.
    B23660.
    C23660.
    I54168.
    RefSeqiNP_000710.5. NM_000719.6. [Q13936-12]
    NP_001123299.1. NM_001129827.1. [Q13936-11]
    NP_001123301.1. NM_001129829.1. [Q13936-14]
    NP_001123302.2. NM_001129830.2.
    NP_001123303.1. NM_001129831.1. [Q13936-31]
    NP_001123304.1. NM_001129832.1. [Q13936-30]
    NP_001123305.1. NM_001129833.1. [Q13936-13]
    NP_001123306.1. NM_001129834.1. [Q13936-24]
    NP_001123307.1. NM_001129835.1. [Q13936-27]
    NP_001123308.1. NM_001129836.1. [Q13936-32]
    NP_001123309.1. NM_001129837.1. [Q13936-25]
    NP_001123310.1. NM_001129838.1. [Q13936-29]
    NP_001123311.1. NM_001129839.1. [Q13936-15]
    NP_001123312.1. NM_001129840.1. [Q13936-23]
    NP_001123313.1. NM_001129841.1. [Q13936-21]
    NP_001123314.1. NM_001129842.1. [Q13936-22]
    NP_001123315.1. NM_001129843.1. [Q13936-20]
    NP_001123316.1. NM_001129844.1. [Q13936-35]
    NP_001123318.1. NM_001129846.1. [Q13936-19]
    NP_001161095.1. NM_001167623.1. [Q13936-37]
    NP_001161096.2. NM_001167624.2.
    NP_001161097.1. NM_001167625.1.
    NP_955630.3. NM_199460.3.
    UniGeneiHs.118262.
    Hs.690010.

    Genome annotation databases

    EnsembliENST00000327702; ENSP00000329877; ENSG00000151067. [Q13936-33]
    ENST00000344100; ENSP00000341092; ENSG00000151067. [Q13936-14]
    ENST00000347598; ENSP00000266376; ENSG00000151067. [Q13936-11]
    ENST00000399591; ENSP00000382500; ENSG00000151067. [Q13936-29]
    ENST00000399595; ENSP00000382504; ENSG00000151067. [Q13936-25]
    ENST00000399597; ENSP00000382506; ENSG00000151067. [Q13936-22]
    ENST00000399601; ENSP00000382510; ENSG00000151067. [Q13936-20]
    ENST00000399603; ENSP00000382512; ENSG00000151067. [Q13936-37]
    ENST00000399606; ENSP00000382515; ENSG00000151067. [Q13936-30]
    ENST00000399617; ENSP00000382526; ENSG00000151067. [Q13936-36]
    ENST00000399621; ENSP00000382530; ENSG00000151067. [Q13936-24]
    ENST00000399629; ENSP00000382537; ENSG00000151067. [Q13936-32]
    ENST00000399637; ENSP00000382546; ENSG00000151067. [Q13936-27]
    ENST00000399638; ENSP00000382547; ENSG00000151067. [Q13936-31]
    ENST00000399641; ENSP00000382549; ENSG00000151067. [Q13936-23]
    ENST00000399644; ENSP00000382552; ENSG00000151067. [Q13936-21]
    ENST00000399649; ENSP00000382557; ENSG00000151067. [Q13936-15]
    ENST00000399655; ENSP00000382563; ENSG00000151067. [Q13936-12]
    ENST00000402845; ENSP00000385724; ENSG00000151067. [Q13936-13]
    GeneIDi775.
    KEGGihsa:775.
    UCSCiuc001qjz.2. human. [Q13936-12]
    uc001qkb.2. human. [Q13936-20]
    uc001qkc.2. human. [Q13936-27]
    uc001qkd.2. human. [Q13936-24]
    uc001qke.2. human. [Q13936-19]
    uc001qkf.2. human. [Q13936-29]
    uc001qkg.2. human. [Q13936-15]
    uc001qkh.2. human. [Q13936-25]
    uc001qki.1. human. [Q13936-18]
    uc001qkl.2. human. [Q13936-11]
    uc001qkm.2. human. [Q13936-28]
    uc001qkn.2. human. [Q13936-23]
    uc001qko.2. human. [Q13936-30]
    uc001qkp.2. human. [Q13936-21]
    uc001qkq.2. human. [Q13936-31]
    uc001qkr.2. human. [Q13936-32]
    uc001qks.2. human. [Q13936-22]
    uc001qkt.2. human. [Q13936-13]
    uc001qku.2. human. [Q13936-33]
    uc009zdu.1. human. [Q13936-1]
    uc009zdv.1. human. [Q13936-35]
    uc009zdw.1. human. [Q13936-14]

    Polymorphism databases

    DMDMi308153651.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M92269 Genomic DNA. Translation: AAA17030.1 .
    M92270 Genomic DNA. No translation available.
    M92271 Genomic DNA. No translation available.
    M92272 Genomic DNA. No translation available.
    M92273 Genomic DNA. No translation available.
    M92274 Genomic DNA. No translation available.
    M92275 Genomic DNA. No translation available.
    L04568 Genomic DNA. Translation: AAA02500.2 . Frameshift.
    L04569 mRNA. Translation: AAA02501.1 .
    L29529 mRNA. Translation: AAA51899.1 .
    Z26256 Genomic DNA. No translation available.
    Z26257 Genomic DNA. No translation available.
    Z26258 Genomic DNA. No translation available.
    Z26259 Genomic DNA. No translation available.
    Z26260 Genomic DNA. No translation available.
    Z26261 Genomic DNA. No translation available.
    Z26262 Genomic DNA. No translation available.
    Z26263 Genomic DNA. No translation available.
    Z26264 Genomic DNA. No translation available.
    Z26265 Genomic DNA. No translation available.
    Z26266 Genomic DNA. No translation available.
    Z26267 Genomic DNA. No translation available.
    Z26268 Genomic DNA. No translation available.
    Z26269 Genomic DNA. No translation available.
    Z26271 Genomic DNA. No translation available.
    Z26272 Genomic DNA. No translation available.
    Z26273 Genomic DNA. No translation available.
    Z26274 Genomic DNA. No translation available.
    Z26275 Genomic DNA. No translation available.
    Z26276 Genomic DNA. No translation available.
    Z26277 Genomic DNA. No translation available.
    Z26278 Genomic DNA. No translation available.
    Z26279 Genomic DNA. No translation available.
    Z26280 Genomic DNA. No translation available.
    Z26281 Genomic DNA. No translation available.
    Z26282 Genomic DNA. No translation available.
    Z26283 Genomic DNA. No translation available.
    Z26284 Genomic DNA. No translation available.
    Z26286 Genomic DNA. No translation available.
    Z26287 Genomic DNA. No translation available.
    Z26288 Genomic DNA. No translation available.
    Z26294 mRNA. Translation: CAA81218.1 .
    Z26295 mRNA. Translation: CAA81219.1 .
    Z26308 Genomic DNA. No translation available.
    Z34809 mRNA. Translation: CAA84340.1 .
    Z34810 mRNA. Translation: CAA84341.1 .
    Z34811 mRNA. Translation: CAA84342.1 .
    Z34812 mRNA. Translation: CAA84343.1 .
    Z34813 mRNA. Translation: CAA84344.1 .
    Z34814 mRNA. Translation: CAA84345.1 .
    Z34815 mRNA. Translation: CAA84346.1 .
    Z34816 mRNA. Translation: CAA84347.1 .
    Z34817 mRNA. Translation: CAA84348.1 .
    Z34818 mRNA. Translation: CAA84349.1 .
    Z34819 mRNA. Translation: CAA84350.1 .
    Z34820 mRNA. Translation: CAA84351.1 .
    Z34821 mRNA. Translation: CAA84352.1 .
    Z34822 mRNA. Translation: CAA84353.1 .
    L29530 Genomic DNA. No translation available.
    L29531 Genomic DNA. No translation available.
    L29532 Genomic DNA. No translation available.
    L29533 Genomic DNA. No translation available.
    L29534 mRNA. Translation: AAA51900.1 .
    L29535 Genomic DNA. No translation available.
    L29536 mRNA. Translation: AAA51901.1 .
    L29537 Genomic DNA. No translation available.
    L29538 Genomic DNA. No translation available.
    L29539 Genomic DNA. No translation available.
    Z74996 mRNA. Translation: CAA99284.1 .
    AJ224873 mRNA. Translation: CAA12174.1 .
    AF465484 mRNA. Translation: AAM70049.1 .
    AY830711 mRNA. Translation: AAX37354.1 .
    AY830712 mRNA. Translation: AAX37355.1 .
    AY830713 mRNA. Translation: AAX37356.1 .
    AC005293 Genomic DNA. No translation available.
    AC005342 Genomic DNA. No translation available.
    AC005344 Genomic DNA. No translation available.
    AC005414 Genomic DNA. No translation available.
    AC005866 Genomic DNA. No translation available.
    AC006051 Genomic DNA. No translation available.
    AC007618 Genomic DNA. No translation available.
    BC146846 mRNA. Translation: AAI46847.1 .
    AY604867 mRNA. Translation: AAT02226.1 .
    M57971 mRNA. Translation: AAA62832.1 .
    M57972 mRNA. Translation: AAB59461.1 .
    M61130 Genomic DNA. Translation: AAA58409.1 .
    M91370 Genomic DNA. Translation: AAA74590.1 .
    CCDSi CCDS44787.1. [Q13936-23 ]
    CCDS44788.1. [Q13936-11 ]
    CCDS44789.1. [Q13936-30 ]
    CCDS44790.1. [Q13936-31 ]
    CCDS44791.1. [Q13936-22 ]
    CCDS44792.1. [Q13936-14 ]
    CCDS44793.1. [Q13936-24 ]
    CCDS44794.1. [Q13936-12 ]
    CCDS44795.1. [Q13936-25 ]
    CCDS44796.1. [Q13936-15 ]
    CCDS44797.1. [Q13936-32 ]
    CCDS44798.1. [Q13936-21 ]
    CCDS44799.1. [Q13936-27 ]
    CCDS44800.1. [Q13936-20 ]
    CCDS44801.1. [Q13936-29 ]
    CCDS53733.1. [Q13936-36 ]
    CCDS53734.1. [Q13936-37 ]
    CCDS53735.1. [Q13936-13 ]
    CCDS53736.1. [Q13936-33 ]
    PIRi A23660.
    A44363.
    A45290.
    B23660.
    C23660.
    I54168.
    RefSeqi NP_000710.5. NM_000719.6. [Q13936-12 ]
    NP_001123299.1. NM_001129827.1. [Q13936-11 ]
    NP_001123301.1. NM_001129829.1. [Q13936-14 ]
    NP_001123302.2. NM_001129830.2.
    NP_001123303.1. NM_001129831.1. [Q13936-31 ]
    NP_001123304.1. NM_001129832.1. [Q13936-30 ]
    NP_001123305.1. NM_001129833.1. [Q13936-13 ]
    NP_001123306.1. NM_001129834.1. [Q13936-24 ]
    NP_001123307.1. NM_001129835.1. [Q13936-27 ]
    NP_001123308.1. NM_001129836.1. [Q13936-32 ]
    NP_001123309.1. NM_001129837.1. [Q13936-25 ]
    NP_001123310.1. NM_001129838.1. [Q13936-29 ]
    NP_001123311.1. NM_001129839.1. [Q13936-15 ]
    NP_001123312.1. NM_001129840.1. [Q13936-23 ]
    NP_001123313.1. NM_001129841.1. [Q13936-21 ]
    NP_001123314.1. NM_001129842.1. [Q13936-22 ]
    NP_001123315.1. NM_001129843.1. [Q13936-20 ]
    NP_001123316.1. NM_001129844.1. [Q13936-35 ]
    NP_001123318.1. NM_001129846.1. [Q13936-19 ]
    NP_001161095.1. NM_001167623.1. [Q13936-37 ]
    NP_001161096.2. NM_001167624.2.
    NP_001161097.1. NM_001167625.1.
    NP_955630.3. NM_199460.3.
    UniGenei Hs.118262.
    Hs.690010.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1T0J X-ray 2.00 C 428-445 [» ]
    2BE6 X-ray 2.00 D/E/F 1659-1692 [» ]
    2F3Y X-ray 1.45 B 1665-1685 [» ]
    2F3Z X-ray 1.60 B 1665-1685 [» ]
    2LQC NMR - B 47-68 [» ]
    3G43 X-ray 2.10 E/F 1609-1682 [» ]
    3OXQ X-ray 2.55 E/F 1609-1685 [» ]
    ProteinModelPortali Q13936.
    SMRi Q13936. Positions 128-447, 521-808, 891-1186, 1228-1525, 1608-1688.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107229. 15 interactions.
    DIPi DIP-29589N.
    IntActi Q13936. 4 interactions.

    Chemistry

    BindingDBi Q13936.
    ChEMBLi CHEMBL1940.
    DrugBanki DB00308. Ibutilide.
    DB00270. Isradipine.
    DB00653. Magnesium Sulfate.
    DB01388. Mibefradil.
    DB00622. Nicardipine.
    DB00661. Verapamil.
    GuidetoPHARMACOLOGYi 529.

    Protein family/group databases

    TCDBi 1.A.1.11.4. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q13936.

    Polymorphism databases

    DMDMi 308153651.

    Proteomic databases

    PaxDbi Q13936.
    PRIDEi Q13936.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327702 ; ENSP00000329877 ; ENSG00000151067 . [Q13936-33 ]
    ENST00000344100 ; ENSP00000341092 ; ENSG00000151067 . [Q13936-14 ]
    ENST00000347598 ; ENSP00000266376 ; ENSG00000151067 . [Q13936-11 ]
    ENST00000399591 ; ENSP00000382500 ; ENSG00000151067 . [Q13936-29 ]
    ENST00000399595 ; ENSP00000382504 ; ENSG00000151067 . [Q13936-25 ]
    ENST00000399597 ; ENSP00000382506 ; ENSG00000151067 . [Q13936-22 ]
    ENST00000399601 ; ENSP00000382510 ; ENSG00000151067 . [Q13936-20 ]
    ENST00000399603 ; ENSP00000382512 ; ENSG00000151067 . [Q13936-37 ]
    ENST00000399606 ; ENSP00000382515 ; ENSG00000151067 . [Q13936-30 ]
    ENST00000399617 ; ENSP00000382526 ; ENSG00000151067 . [Q13936-36 ]
    ENST00000399621 ; ENSP00000382530 ; ENSG00000151067 . [Q13936-24 ]
    ENST00000399629 ; ENSP00000382537 ; ENSG00000151067 . [Q13936-32 ]
    ENST00000399637 ; ENSP00000382546 ; ENSG00000151067 . [Q13936-27 ]
    ENST00000399638 ; ENSP00000382547 ; ENSG00000151067 . [Q13936-31 ]
    ENST00000399641 ; ENSP00000382549 ; ENSG00000151067 . [Q13936-23 ]
    ENST00000399644 ; ENSP00000382552 ; ENSG00000151067 . [Q13936-21 ]
    ENST00000399649 ; ENSP00000382557 ; ENSG00000151067 . [Q13936-15 ]
    ENST00000399655 ; ENSP00000382563 ; ENSG00000151067 . [Q13936-12 ]
    ENST00000402845 ; ENSP00000385724 ; ENSG00000151067 . [Q13936-13 ]
    GeneIDi 775.
    KEGGi hsa:775.
    UCSCi uc001qjz.2. human. [Q13936-12 ]
    uc001qkb.2. human. [Q13936-20 ]
    uc001qkc.2. human. [Q13936-27 ]
    uc001qkd.2. human. [Q13936-24 ]
    uc001qke.2. human. [Q13936-19 ]
    uc001qkf.2. human. [Q13936-29 ]
    uc001qkg.2. human. [Q13936-15 ]
    uc001qkh.2. human. [Q13936-25 ]
    uc001qki.1. human. [Q13936-18 ]
    uc001qkl.2. human. [Q13936-11 ]
    uc001qkm.2. human. [Q13936-28 ]
    uc001qkn.2. human. [Q13936-23 ]
    uc001qko.2. human. [Q13936-30 ]
    uc001qkp.2. human. [Q13936-21 ]
    uc001qkq.2. human. [Q13936-31 ]
    uc001qkr.2. human. [Q13936-32 ]
    uc001qks.2. human. [Q13936-22 ]
    uc001qkt.2. human. [Q13936-13 ]
    uc001qku.2. human. [Q13936-33 ]
    uc009zdu.1. human. [Q13936-1 ]
    uc009zdv.1. human. [Q13936-35 ]
    uc009zdw.1. human. [Q13936-14 ]

    Organism-specific databases

    CTDi 775.
    GeneCardsi GC12P002032.
    GeneReviewsi CACNA1C.
    H-InvDB HIX0010327.
    HGNCi HGNC:1390. CACNA1C.
    HPAi HPA039796.
    MIMi 114205. gene.
    601005. phenotype.
    611875. phenotype.
    neXtProti NX_Q13936.
    Orphaneti 130. Brugada syndrome.
    65283. Timothy syndrome.
    PharmGKBi PA83.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOVERGENi HBG050763.
    KOi K04850.
    PhylomeDBi Q13936.
    TreeFami TF312805.

    Enzyme and pathway databases

    Reactomei REACT_18312. NCAM1 interactions.
    REACT_18325. Regulation of insulin secretion.
    REACT_18339. Adrenaline,noradrenaline inhibits insulin secretion.

    Miscellaneous databases

    ChiTaRSi CACNA1C. human.
    EvolutionaryTracei Q13936.
    GeneWikii Cav1.2.
    GenomeRNAii 775.
    NextBioi 3132.
    PROi Q13936.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13936.
    Genevestigatori Q13936.

    Family and domain databases

    Gene3Di 1.20.120.350. 6 hits.
    InterProi IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR014873. VDCC_a1su_IQ.
    IPR005451. VDCC_L_a1csu.
    IPR005446. VDCC_L_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view ]
    Pfami PF08763. Ca_chan_IQ. 1 hit.
    PF00520. Ion_trans. 5 hits.
    [Graphical view ]
    PRINTSi PR00167. CACHANNEL.
    PR01630. LVDCCALPHA1.
    PR01635. LVDCCALPHA1C.
    SMARTi SM01062. Ca_chan_IQ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts."
      Soldatov N.M.
      Proc. Natl. Acad. Sci. U.S.A. 89:4628-4632(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1), VARIANTS VAL-1869 AND ARG-1893.
      Tissue: Fetal fibroblast.
    2. "Cloning, chromosomal localization, and functional expression of the alpha-1 subunit of the L-type voltage-dependent calcium channel from normal human heart."
      Schultz D., Mikala G., Yatani A., Engle D.B., Iles D.E., Segers B., Sinke R.J., Weghuis D.O., Kloeckner U., Wakamori M., Wang J.-J., Melvin D., Varadi G., Schwartz A.
      Proc. Natl. Acad. Sci. U.S.A. 90:6228-6232(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 18 AND 28), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1822-1863, FUNCTION, TISSUE SPECIFICITY, VARIANT ARG-84.
      Tissue: Heart.
    3. "Genomic structure of human L-type Ca2+ channel."
      Soldatov N.M.
      Genomics 22:77-87(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], NUCLEOTIDE SEQUENCE [MRNA] OF 1112-1803 (ISOFORMS 24/27), NUCLEOTIDE SEQUENCE [MRNA] OF 1364-1972 (ISOFORMS 11/12/19/20/21/22/23/30/31/32).
      Tissue: Hippocampus and Lung fibroblast.
    4. "Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants."
      Soldatov N.M., Bouron A., Reuter H.
      J. Biol. Chem. 270:10540-10543(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 12; 19 AND 20), ALTERNATIVE SPLICING, FUNCTION, MUTAGENESIS OF GLY-954 AND TYR-958.
      Tissue: Fibroblast.
    5. "Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit."
      Kloeckner U., Mikala G., Eisfeld J., Iles D.E., Strobeck M., Mershon J.L., Schwartz A., Varadi G.
      Am. J. Physiol. 272:H1372-H1381(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 16 AND 17), ALTERNATIVE SPLICING, VARIANTS ARG-84; VAL-1869 AND ARG-1893.
      Tissue: Heart.
    6. "Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation."
      Soldatov N.M., Zuelke R.D., Bouron A., Reuter H.
      J. Biol. Chem. 272:3560-3566(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 26 AND 27), ALTERNATIVE SPLICING (ISOFORMS 9 AND 10), FUNCTION.
      Tissue: Hippocampus.
    7. "Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene."
      Zuehlke R.D., Bouron A., Soldatov N.M., Reuter H.
      FEBS Lett. 427:220-224(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 21; 22 AND 23), FUNCTION.
    8. "Alpha(1C) (Ca(V)1.2) L-type calcium channel mediates mechanosensitive calcium regulation."
      Lyford G.L., Strege P.R., Shepard A., Ou Y., Ermilov L., Miller S.M., Gibbons S.J., Rae J.L., Szurszewski J.H., Farrugia G.
      Am. J. Physiol. 283:C1001-C1008(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 12), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Intestinal smooth muscle.
    9. "Atherosclerosis-related molecular alteration of the human CaV1.2 calcium channel alpha1C subunit."
      Tiwari S., Zhang Y., Heller J., Abernethy D.R., Soldatov N.M.
      Proc. Natl. Acad. Sci. U.S.A. 103:17024-17029(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 13; 14; 15; 24 AND 25), FUNCTION, TISSUE SPECIFICITY.
    10. "Functional expression of splice variants of human l-type calcium channel (isoform 1 gene)."
      Soldatov N.
      Submitted (JUN-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11; 28; 29; 30; 31; 32 AND 33), ALTERNATIVE SPLICING, VARIANTS ARG-84; VAL-1869 AND ARG-1893.
    11. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    12. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 35).
      Tissue: Brain.
    13. "A novel long N-terminal isoform of human L-type Ca2+ channel is up-regulated by protein kinase C."
      Blumenstein Y., Kanevsky N., Sahar G., Barzilai R., Ivanina T., Dascal N.
      J. Biol. Chem. 277:3419-3423(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-180 (ISOFORM 34).
    14. "Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes."
      Perez-Reyes E., Wei X., Castellano A., Birnbaumer L.
      J. Biol. Chem. 265:20430-20436(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1182-1503 (ISOFORMS 6/12/20/23/24), NUCLEOTIDE SEQUENCE [MRNA] OF 1182-1503 (ISOFORMS 7/13/16/17/18/21/22).
      Tissue: Heart.
    15. "Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter."
      Powers P.A., Gregg R.G., Lalley P.A., Liao M., Hogan K.
      Genomics 10:835-839(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1140-1206.
      Tissue: Heart.
    16. "Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter."
      Sun W., McPherson J.D., Hoang D.Q., Wasmuth J.J., Evans G.A., Montal M.
      Genomics 14:1092-1094(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1196-1421.
      Tissue: Brain.
    17. "Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel."
      Tang S., Mikala G., Bahinski A., Yatani A., Varadi G., Schwartz A.
      J. Biol. Chem. 268:13026-13029(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS, CALCIUM-BINDING.
    18. "Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit."
      Qin N., Yagel S., Momplaisir M.-L., Codd E.E., D'Andrea M.R.
      Mol. Pharmacol. 62:485-496(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CACNA2D4.
    19. "Ca2+-binding protein-1 facilitates and forms a postsynaptic complex with Cav1.2 (L-type) Ca2+ channels."
      Zhou H., Kim S.-A., Kirk E.A., Tippens A.L., Sun H., Haeseleer F., Lee A.
      J. Neurosci. 24:4698-4708(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CABP1.
    20. "Molecular mechanism for divergent regulation of Cav1.2 Ca2+ channels by calmodulin and Ca2+-binding protein-1."
      Zhou H., Yu K., McCoy K.L., Lee A.
      J. Biol. Chem. 280:29612-29619(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CABP1.
    21. "Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain."
      Van Petegem F., Clark K.A., Chatelain F.C., Minor D.L. Jr.
      Nature 429:671-675(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 428-445 IN COMPLEX WITH CACNB2.
    22. Cited for: VARIANT TS ARG-406, CHARACTERIZATION OF VARIANT TS ARG-406.
    23. Cited for: VARIANT TS SER-402.
    24. "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death."
      Antzelevitch C., Pollevick G.D., Cordeiro J.M., Casis O., Sanguinetti M.C., Aizawa Y., Guerchicoff A., Pfeiffer R., Oliva A., Wollnik B., Gelber P., Bonaros E.P. Jr., Burashnikov E., Wu Y., Sargent J.D., Schickel S., Oberheiden R., Bhatia A.
      , Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., Wolpert C.
      Circulation 115:442-449(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BRGDA3 VAL-39 AND ARG-490, CHARACTERIZATION OF VARIANTS BRGDA3 VAL-39 AND ARG-490.
    25. Cited for: VARIANT ARG-878.

    Entry informationi

    Entry nameiCAC1C_HUMAN
    AccessioniPrimary (citable) accession number: Q13936
    Secondary accession number(s): B2RUT3
    , E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9, Q6PKM7, Q8N6C0, Q99025, Q99241, Q99875
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 172 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3