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Q13936

- CAC1C_HUMAN

UniProt

Q13936 - CAC1C_HUMAN

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Protein
Voltage-dependent L-type calcium channel subunit alpha-1C
Gene
CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1
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-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 – 156412 By similarity
Add
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 import Source: RefGenome
  4. calcium ion transport into cytosol Source: BHF-UCL
  5. calcium ion-dependent exocytosis Source: Ensembl
  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
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

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 124124Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei125 – 14319Helical; Name=S1 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini144 – 16017Extracellular Reviewed prediction
Add
BLAST
Transmembranei161 – 18121Helical; Name=S2 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini182 – 19312Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei194 – 21219Helical; Name=S3 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini213 – 23220Extracellular Reviewed prediction
Add
BLAST
Transmembranei233 – 25119Helical; Name=S4 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini252 – 27019Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei271 – 29020Helical; Name=S5 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini291 – 38090Extracellular Reviewed prediction
Add
BLAST
Transmembranei381 – 40525Helical; Name=S6 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini406 – 524119Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei525 – 54319Helical; Name=S1 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini544 – 55815Extracellular Reviewed prediction
Add
BLAST
Transmembranei559 – 57820Helical; Name=S2 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini579 – 5868Cytoplasmic Reviewed prediction
Transmembranei587 – 60519Helical; Name=S3 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini606 – 61510Extracellular Reviewed prediction
Transmembranei616 – 63419Helical; Name=S4 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini635 – 65319Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei654 – 67320Helical; Name=S5 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini674 – 72855Extracellular Reviewed prediction
Add
BLAST
Transmembranei729 – 75325Helical; Name=S6 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini754 – 900147Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei901 – 91919Helical; Name=S1 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini920 – 93516Extracellular Reviewed prediction
Add
BLAST
Transmembranei936 – 95520Helical; Name=S2 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini956 – 98732Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei988 – 100619Helical; Name=S3 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1007 – 10137Extracellular Reviewed prediction
Transmembranei1014 – 103219Helical; Name=S4 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1033 – 105119Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1052 – 107120Helical; Name=S5 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1072 – 116190Extracellular Reviewed prediction
Add
BLAST
Transmembranei1162 – 118625Helical; Name=S6 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1187 – 123953Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1240 – 125819Helical; Name=S1 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1259 – 127315Extracellular Reviewed prediction
Add
BLAST
Transmembranei1274 – 129320Helical; Name=S2 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1294 – 13018Cytoplasmic Reviewed prediction
Transmembranei1302 – 132019Helical; Name=S3 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1321 – 137252Extracellular Reviewed prediction
Add
BLAST
Transmembranei1373 – 139119Helical; Name=S4 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1392 – 141019Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1411 – 143020Helical; Name=S5 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1431 – 149969Extracellular Reviewed prediction
Add
BLAST
Transmembranei1500 – 152425Helical; Name=S6 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1525 – 2221697Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Mutagenesisi954 – 9541G → F: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958. 1 Publication
Mutagenesisi958 – 9581Y → I: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954. 1 Publication
Mutagenesisi1135 – 11351E → K: Loss of selectivity for divalent over monovalent cations.
Mutagenesisi1464 – 14641E → K: Loss of selectivity for divalent over monovalent cations.

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-1C
PRO_0000053928Add
BLAST

Amino acid modifications

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

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.3 Publications

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

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.

Miscellaneous databases

EvolutionaryTraceiQ13936.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati111 – 408298I
Add
BLAST
Repeati510 – 756247II
Add
BLAST
Repeati887 – 1189303III
Add
BLAST
Repeati1226 – 1527302IV
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni428 – 44518Binding to the beta subunit By similarity
Add
BLAST
Regioni1109 – 119991Dihydropyridine binding By similarity
Add
BLAST
Regioni1478 – 154669Dihydropyridine binding By similarity
Add
BLAST
Regioni1492 – 153544Phenylalkylamine binding By similarity
Add
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.

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.

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.
VSP_000885Add
BLAST
Alternative sequencei1 – 1616MVNEN…EENHQ → MLRAFVQPGTPAYQPLPSHL SANTEVKFKGTLVHEAQLNY FYISPG in isoform 34.
VSP_035146Add
BLAST
Alternative sequencei306 – 3083Missing in isoform 35.
VSP_035877
Alternative sequencei372 – 39120VNDAV…TLIII → MQDAMGYELPWVYFVSLVIF in isoform 3, isoform 16, isoform 17, isoform 18, isoform 23, isoform 28, isoform 36 and isoform 37.
VSP_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.
VSP_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.
VSP_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.
VSP_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.
VSP_000890Add
BLAST
Alternative sequencei1351 – 136313Missing in isoform 15.
VSP_022503Add
BLAST
Alternative sequencei1353 – 136311Missing in isoform 8, isoform 19, isoform 25, isoform 28, isoform 29 and isoform 32.
VSP_000891Add
BLAST
Alternative sequencei1363 – 13631M → MGPSCSHPPLAVLTAPPVAD GFQ in isoform 14.
VSP_022504
Alternative sequencei1618 – 169982LRIKT…NALSL → LREAELSSQVQYQAKEASLL ERRRKSSHPKSSTKPNKLLS SGGSTGWVEDARALEGQVLA RGCGWLGSLEERERGPHHPP LGF in isoform 9 and isoform 26.
VSP_000892Add
BLAST
Alternative sequencei1623 – 16231E → EEGPSPSEAHQGAEDPFRPA in isoform 10, isoform 13, isoform 14, isoform 15, isoform 24, isoform 25, isoform 27 and isoform 29.
VSP_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.
VSP_000895Add
BLAST
Alternative sequencei1864 – 189734ERHVP…KANPS → MHCCDMLDGGTFPPALGPRR APPCLHQQLQGSLAGLREDT PCIVPGHASLCCSSRVGEWL PAGCTAPQHA in isoform 2, isoform 18 and isoform 28.
VSP_000894Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1072 – 10721K → Q in Z26272. 1 Publication
Sequence conflicti1157 – 11571N → K in AAA58409. 1 Publication
Sequence conflicti1244 – 12441L → P in AAA74590. 1 Publication
Sequence conflicti1384 – 13841L → P in AAA74590. 1 Publication
Sequence conflicti1412 – 14121A → V in AAI46847. 1 Publication
Sequence conflicti1459 – 14591R → K in CAA81219. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84340. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84341. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84342. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84343. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84344. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84345. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84346. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84347. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84348. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84349. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84350. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA84351. 1 Publication
Sequence conflicti2205 – 22051R → A in CAA12174. 1 Publication
Sequence conflicti2205 – 22051R → A in AAX37354. 1 Publication
Sequence conflicti2205 – 22051R → A in AAX37355. 1 Publication
Sequence conflicti2205 – 22051R → A in AAX37356. 1 Publication
Sequence conflicti2205 – 22051R → G in AAA17030. 1 Publication
Isoform 26 (identifier: Q13936-26)
Sequence conflicti1573 – 15731A → T in CAA84348. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 171 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

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