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O00555

- CAC1A_HUMAN

UniProt

O00555 - CAC1A_HUMAN

Protein

Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Gene

CACNA1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei318 – 3181Calcium ion selectivity and permeabilityBy similarity
    Sitei668 – 6681Calcium ion selectivity and permeabilityBy similarity
    Sitei1460 – 14601Calcium ion selectivity and permeabilityBy similarity
    Sitei1649 – 16491Binds to omega-Aga-IVABy similarity
    Sitei1756 – 17561Calcium ion selectivity and permeabilityBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi1840 – 185112By similarityAdd
    BLAST

    GO - Molecular functioni

    1. high voltage-gated calcium channel activity Source: RefGenome
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: UniProtKB
    4. syntaxin binding Source: UniProtKB
    5. voltage-gated calcium channel activity Source: UniProtKB

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. behavioral response to pain Source: Ensembl
    3. calcium ion-dependent exocytosis Source: Ensembl
    4. calcium ion-dependent exocytosis of neurotransmitter Source: Ensembl
    5. calcium ion import Source: RefGenome
    6. cell death Source: UniProtKB
    7. cell growth Source: Ensembl
    8. cellular chloride ion homeostasis Source: Ensembl
    9. cerebellar molecular layer development Source: Ensembl
    10. cerebellar Purkinje cell differentiation Source: Ensembl
    11. cerebellum maturation Source: Ensembl
    12. dendrite morphogenesis Source: Ensembl
    13. energy reserve metabolic process Source: Reactome
    14. gamma-aminobutyric acid secretion Source: Ensembl
    15. gamma-aminobutyric acid signaling pathway Source: Ensembl
    16. glucose metabolic process Source: Ensembl
    17. hormone metabolic process Source: Ensembl
    18. membrane depolarization Source: Reactome
    19. membrane depolarization during action potential Source: RefGenome
    20. musculoskeletal movement, spinal reflex action Source: Ensembl
    21. negative regulation of hormone biosynthetic process Source: Ensembl
    22. negative regulation of neuron apoptotic process Source: Ensembl
    23. neuromuscular process controlling balance Source: Ensembl
    24. neuromuscular synaptic transmission Source: Ensembl
    25. neurotransmitter metabolic process Source: Ensembl
    26. positive regulation of cytosolic calcium ion concentration Source: UniProtKB
    27. receptor clustering Source: Ensembl
    28. regulation of acetylcholine secretion, neurotransmission Source: Ensembl
    29. regulation of axonogenesis Source: Ensembl
    30. regulation of calcium ion-dependent exocytosis Source: Ensembl
    31. regulation of insulin secretion Source: Reactome
    32. rhythmic synaptic transmission Source: Ensembl
    33. small molecule metabolic process Source: Reactome
    34. spinal cord motor neuron differentiation Source: Ensembl
    35. sulfur amino acid metabolic process Source: Ensembl
    36. synapse assembly Source: Ensembl
    37. synaptic transmission Source: RefGenome
    38. synaptic transmission, glutamatergic Source: Ensembl
    39. transmission of nerve impulse Source: Ensembl
    40. vestibular nucleus development 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_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
    REACT_18325. Regulation of insulin secretion.

    Protein family/group databases

    TCDBi1.A.1.11.27. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Alternative name(s):
    Brain calcium channel I
    Short name:
    BI
    Calcium channel, L type, alpha-1 polypeptide isoform 4
    Voltage-gated calcium channel subunit alpha Cav2.1
    Gene namesi
    Name:CACNA1A
    Synonyms:CACH4, CACN3, CACNL1A4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:1388. CACNA1A.

    Subcellular locationi

    GO - Cellular componenti

    1. cell projection Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. dendrite Source: Ensembl
    4. integral component of membrane Source: UniProtKB
    5. neuronal cell body Source: Ensembl
    6. nucleus Source: UniProtKB
    7. plasma membrane Source: UniProtKB
    8. voltage-gated calcium channel complex Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 6 (SCA6) [MIM:183086]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti293 – 2931G → R in EA2 and SCA6. 2 Publications
    Corresponds to variant rs121908215 [ dbSNP | Ensembl ].
    VAR_043825
    Natural varianti405 – 4051A → T in SCA6. 1 Publication
    Corresponds to variant rs1219082456 [ dbSNP | Ensembl ].
    VAR_063685
    Natural varianti1664 – 16641R → Q in SCA6. 1 Publication
    Corresponds to variant rs121908247 [ dbSNP | Ensembl ].
    VAR_063691
    Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti192 – 1921R → Q in FHM1. 1 Publication
    Corresponds to variant rs121908211 [ dbSNP | Ensembl ].
    VAR_001491
    Natural varianti195 – 1951R → K in FHM1. 1 Publication
    Corresponds to variant rs121908222 [ dbSNP | Ensembl ].
    VAR_043820
    Natural varianti218 – 2181S → L in FHM1. 1 Publication
    Corresponds to variant rs121908225 [ dbSNP | Ensembl ].
    VAR_043821
    Natural varianti583 – 5831R → Q in FHM1. 1 Publication
    Corresponds to variant rs121908217 [ dbSNP | Ensembl ].
    VAR_043826
    Natural varianti666 – 6661T → M in FHM1 and EA2. 3 Publications
    Corresponds to variant rs121908212 [ dbSNP | Ensembl ].
    VAR_001492
    Natural varianti714 – 7141V → A in FHM1. 1 Publication
    Corresponds to variant rs121908213 [ dbSNP | Ensembl ].
    VAR_001493
    Natural varianti715 – 7151D → E in FHM1. 1 Publication
    Corresponds to variant rs121908218 [ dbSNP | Ensembl ].
    VAR_043827
    Natural varianti1335 – 13351K → E in FHM1. 1 Publication
    Corresponds to variant rs121908223 [ dbSNP | Ensembl ].
    VAR_043829
    Natural varianti1346 – 13461R → Q in FHM1; with progressive cerebellar ataxia. 2 Publications
    Corresponds to variant rs121908230 [ dbSNP | Ensembl ].
    VAR_043830
    Natural varianti1384 – 13841Y → C in FHM1. 1 Publication
    Corresponds to variant rs121908219 [ dbSNP | Ensembl ].
    VAR_043831
    Natural varianti1456 – 14561V → L in FHM1. 1 Publication
    Corresponds to variant rs121908237 [ dbSNP | Ensembl ].
    VAR_043833
    Natural varianti1667 – 16671R → W in FHM1. 1 Publication
    Corresponds to variant rs121908220 [ dbSNP | Ensembl ].
    VAR_043838
    Natural varianti1683 – 16831W → R in FHM1. 1 Publication
    Corresponds to variant rs121908221 [ dbSNP | Ensembl ].
    VAR_043839
    Natural varianti1695 – 16951V → I in FHM1. 1 Publication
    Corresponds to variant rs121908224 [ dbSNP | Ensembl ].
    VAR_063706
    Natural varianti1810 – 18101I → L in FHM1. 1 Publication
    Corresponds to variant rs121908214 [ dbSNP | Ensembl ].
    VAR_001494
    Episodic ataxia 2 (EA2) [MIM:108500]: An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481Y → C in EA2. 1 Publication
    Corresponds to variant rs121908238 [ dbSNP | Ensembl ].
    VAR_063683
    Natural varianti253 – 2531H → Y in EA2. 1 Publication
    Corresponds to variant rs121908228 [ dbSNP | Ensembl ].
    VAR_043822
    Natural varianti256 – 2561C → R in EA2. 1 Publication
    Corresponds to variant rs121908231 [ dbSNP | Ensembl ].
    VAR_043823
    Natural varianti287 – 2871C → Y in EA2. 1 Publication
    Corresponds to variant rs121908236 [ dbSNP | Ensembl ].
    VAR_043824
    Natural varianti293 – 2931G → R in EA2 and SCA6. 2 Publications
    Corresponds to variant rs121908215 [ dbSNP | Ensembl ].
    VAR_043825
    Natural varianti388 – 3881E → K in EA2. 1 Publication
    VAR_067342
    Natural varianti389 – 3891L → F in EA2. 1 Publication
    Corresponds to variant rs121908239 [ dbSNP | Ensembl ].
    VAR_063684
    Natural varianti501 – 5011T → M in EA2. 1 Publication
    Corresponds to variant rs121908240 [ dbSNP | Ensembl ].
    VAR_063687
    Natural varianti638 – 6381G → D in EA2; reduces P/Q current densities. 1 Publication
    Corresponds to variant rs121908246 [ dbSNP | Ensembl ].
    VAR_063688
    Natural varianti666 – 6661T → M in FHM1 and EA2. 3 Publications
    Corresponds to variant rs121908212 [ dbSNP | Ensembl ].
    VAR_001492
    Natural varianti798 – 7981M → T in EA2. 1 Publication
    Corresponds to variant rs121908241 [ dbSNP | Ensembl ].
    VAR_063689
    Natural varianti897 – 8971P → R in EA2. 1 Publication
    Corresponds to variant rs121908242 [ dbSNP | Ensembl ].
    VAR_063690
    Natural varianti1403 – 14031F → C in EA2; loss of function. 1 Publication
    Corresponds to variant rs121908227 [ dbSNP | Ensembl ].
    VAR_043832
    Natural varianti1482 – 14821G → R in EA2. 1 Publication
    Corresponds to variant rs121908232 [ dbSNP | Ensembl ].
    VAR_043834
    Natural varianti1490 – 14901F → S in EA2. 1 Publication
    Corresponds to variant rs121908233 [ dbSNP | Ensembl ].
    VAR_043835
    Natural varianti1493 – 14931V → I in EA2. 1 Publication
    Corresponds to variant rs121908234 [ dbSNP | Ensembl ].
    VAR_043836
    Natural varianti1661 – 16611R → H in EA2. 1 Publication
    Corresponds to variant rs121908216 [ dbSNP | Ensembl ].
    VAR_043837
    Natural varianti1679 – 16791R → C in EA2. 1 Publication
    Corresponds to variant rs121908243 [ dbSNP | Ensembl ].
    VAR_063692
    Natural varianti1736 – 17361H → L in EA2. 1 Publication
    Corresponds to variant rs121908229 [ dbSNP | Ensembl ].
    VAR_043840
    Natural varianti1756 – 17561E → K in EA2. 1 Publication
    Corresponds to variant rs121908226 [ dbSNP | Ensembl ].
    VAR_043841
    Natural varianti1869 – 18691C → R in EA2. 1 Publication
    Corresponds to variant rs121908244 [ dbSNP | Ensembl ].
    VAR_063693
    Natural varianti2135 – 21351R → C in EA2. 1 Publication
    Corresponds to variant rs121908235 [ dbSNP | Ensembl ].
    VAR_043842

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

    MIMi108500. phenotype.
    141500. phenotype.
    183086. phenotype.
    Orphaneti2131. Alternating hemiplegia of childhood.
    71518. Benign paroxysmal torticollis of infancy.
    569. Familial or sporadic hemiplegic migraine.
    97. Familial paroxysmal ataxia.
    98758. Spinocerebellar ataxia type 6.
    PharmGKBiPA26007.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 25052505Voltage-dependent P/Q-type calcium channel subunit alpha-1APRO_0000053916Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi283 – 2831N-linked (GlcNAc...)Sequence Analysis
    Modified residuei790 – 7901PhosphoserineBy similarity
    Modified residuei1822 – 18221Phosphoserine; by PKASequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiO00555.
    PaxDbiO00555.
    PRIDEiO00555.

    PTM databases

    PhosphoSiteiO00555.

    Expressioni

    Tissue specificityi

    Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.1 Publication

    Gene expression databases

    ArrayExpressiO00555.
    BgeeiO00555.
    GenevestigatoriO00555.

    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. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ABI1Q8IZP02EBI-766279,EBI-375446
    AMIGO2Q86SJ22EBI-766279,EBI-3866830
    ARHGAP22Q7Z5H32EBI-766279,EBI-3866859
    BZRAP1O951532EBI-766279,EBI-5915931
    CSNK2BP678702EBI-766279,EBI-348169
    DNAJB5O759532EBI-766279,EBI-5655937
    GRNP287992EBI-766279,EBI-747754
    HIVEP1P158222EBI-766279,EBI-722264
    LPHN1O949102EBI-766279,EBI-3389315
    LTBP4Q8N2S12EBI-766279,EBI-947718
    MATN2O003392EBI-766279,EBI-949020
    MEGF6O750952EBI-766279,EBI-947597
    MEGF8Q7Z7M02EBI-766279,EBI-947617
    PUF60Q9UHX12EBI-766279,EBI-1053259
    RBM12BQ8IXT52EBI-766279,EBI-3044077
    TUBB2BQ9BVA12EBI-766279,EBI-355665
    UQCRC2P226952EBI-766279,EBI-1051424
    YLPM1P497502EBI-766279,EBI-712871

    Protein-protein interaction databases

    BioGridi107227. 94 interactions.
    IntActiO00555. 90 interactions.

    Structurei

    Secondary structure

    1
    2505
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1956 – 197015

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3BXKX-ray2.55B/D1955-1975[»]
    ProteinModelPortaliO00555.
    SMRiO00555. Positions 100-411, 489-740, 1240-1511, 1558-1812, 1895-1972.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO00555.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 9898CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini118 – 13518ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini156 – 16712CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini186 – 1905ExtracellularSequence Analysis
    Topological domaini210 – 22819CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini249 – 33587ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini361 – 487127CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini507 – 52115ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini542 – 5498CytoplasmicSequence Analysis
    Topological domaini569 – 57810ExtracellularSequence Analysis
    Topological domaini598 – 61619CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini637 – 68953ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini715 – 1242528CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1262 – 127716ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1298 – 130912CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1329 – 133911ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1359 – 137719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1398 – 148487ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1510 – 156455CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1594 – 15985ExtracellularSequence Analysis
    Topological domaini1619 – 16268CytoplasmicSequence Analysis
    Topological domaini1646 – 16527ExtracellularSequence Analysis
    Topological domaini1672 – 169019CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1711 – 178272ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1808 – 2505698CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei99 – 11719Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei136 – 15520Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei168 – 18518Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei191 – 20919Helical; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei229 – 24820Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei336 – 36025Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei488 – 50619Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei522 – 54120Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei550 – 56819Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei579 – 59719Helical; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei617 – 63620Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei690 – 71425Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1243 – 126119Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1278 – 129720Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1310 – 132819Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1340 – 135819Helical; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1378 – 139720Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1485 – 150925Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1565 – 159329Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1599 – 161820Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1627 – 164519Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1653 – 167119Helical; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1691 – 171020Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1783 – 180725Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati85 – 363279IAdd
    BLAST
    Repeati473 – 717245IIAdd
    BLAST
    Repeati1231 – 1514284IIIAdd
    BLAST
    Repeati1551 – 1814264IVAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni383 – 40018Binding to the beta subunitBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi13 – 186Poly-Gly
    Compositional biasi727 – 7326Poly-Glu
    Compositional biasi1002 – 10076Poly-Arg
    Compositional biasi1204 – 12074Poly-Glu
    Compositional biasi2211 – 222010Poly-His
    Compositional biasi2221 – 22244Poly-Pro
    Compositional biasi2314 – 232411Poly-GlnAdd
    BLAST

    Domaini

    Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOVERGENiHBG050763.
    InParanoidiO00555.
    KOiK04344.
    OMAiQPGFWEG.
    OrthoDBiEOG7T1RBQ.
    PhylomeDBiO00555.
    TreeFamiTF312805.

    Family and domain databases

    Gene3Di1.20.120.350. 4 hits.
    InterProiIPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR014873. VDCC_a1su_IQ.
    IPR005448. VDCC_P/Q_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view]
    PANTHERiPTHR10037:SF59. PTHR10037:SF59. 1 hit.
    PfamiPF08763. Ca_chan_IQ. 1 hit.
    PF00520. Ion_trans. 4 hits.
    [Graphical view]
    PRINTSiPR00167. CACHANNEL.
    PR01632. PQVDCCALPHA1.
    SMARTiSM01062. Ca_chan_IQ. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: O00555-1) [UniParc]FASTAAdd to Basket

    Also known as: 1A-1, BI-1-GGCAG

    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

    MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ     50
    SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF 100
    EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI 150
    KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL 200
    RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG 250
    KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 300
    FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF 350
    MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE 400
    EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG 450
    SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN 500
    TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS 550
    FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 600
    RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN 650
    FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF 700
    GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS 750
    PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP 800
    DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL 850
    GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 900
    ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT 950
    GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG 1000
    ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP 1050
    IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN 1100
    STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP 1150
    SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1200
    EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI 1250
    LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG 1300
    LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV 1350
    LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK 1400
    GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL 1450
    LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1500
    FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ 1550
    NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV 1600
    FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF 1650
    GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA 1700
    MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF 1750
    RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1800
    LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL 1850
    DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL 1900
    IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD 1950
    LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG 2000
    GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ 2050
    GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2100
    NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ 2150
    RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER 2200
    GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP 2250
    SEGREHMAHR QGSSSVSGSP APSTSGTSTP RRGRRQLPQT PSTPRPHVSY 2300
    SPVIRKAGGS GPPQQQQQQQ QQQQAVARPG RAATSGPRRY PGPTAEPLAG 2350
    DRPPTGGHSS GRSPRMERRV PGPARSESPR ACRHGGARWP ASGPHVSEGP 2400
    PGPRHHGYYR GSDYDEADGP GSGGGEEAMA GAYDAPPPVR HASSGATGRS 2450
    PRTPRASGPA CASPSRHGRR LPNGYYPAHG LARPRGPGSR KGLHEPYSES 2500
    DDDWC 2505
    Length:2,505
    Mass (Da):282,365
    Last modified:July 15, 1999 - v2
    Checksum:i2F2F378ACE02FD56
    GO
    Isoform 2 (identifier: O00555-2) [UniParc]FASTAAdd to Basket

    Also known as: 1A-2,BI-1

    The sequence of this isoform differs from the canonical sequence as follows:
         2262-2505: Missing.

    Show »
    Length:2,261
    Mass (Da):256,932
    Checksum:i08A864BB400F218B
    GO
    Isoform 3 (identifier: O00555-3) [UniParc]FASTAAdd to Basket

    Also known as: BI-1(V1)

    The sequence of this isoform differs from the canonical sequence as follows:
         1844-1875: WGRMPYLDMYQMLRHMSPPLGLGKKCPARVAY → CGRIHYKDMYSLLRVISPPLGLGKKCPHRVAC
         2262-2505: Missing.

    Show »
    Length:2,261
    Mass (Da):256,777
    Checksum:i41408D8C7EB70094
    GO
    Isoform 4 (identifier: O00555-4) [UniParc]FASTAAdd to Basket

    Also known as: BI-1(V1)-GGCAG

    The sequence of this isoform differs from the canonical sequence as follows:
         1844-1875: WGRMPYLDMYQMLRHMSPPLGLGKKCPARVAY → CGRIHYKDMYSLLRVISPPLGLGKKCPHRVAC

    Show »
    Length:2,505
    Mass (Da):282,209
    Checksum:iED4AA00D118EF46B
    GO
    Isoform 5 (identifier: O00555-5) [UniParc]FASTAAdd to Basket

    Also known as: BI-1(V2)

    The sequence of this isoform differs from the canonical sequence as follows:
         2103-2114: Missing.
         2262-2505: Missing.

    Show »
    Length:2,249
    Mass (Da):255,511
    Checksum:i729D79965A9714A4
    GO
    Isoform 6 (identifier: O00555-6) [UniParc]FASTAAdd to Basket

    Also known as: BI-1(V2)-GGCAG

    The sequence of this isoform differs from the canonical sequence as follows:
         2103-2114: Missing.

    Show »
    Length:2,493
    Mass (Da):280,944
    Checksum:i212024798B9867E3
    GO
    Isoform 7 (identifier: O00555-7) [UniParc]FASTAAdd to Basket

    Also known as: BI-1(V2,V3)

    The sequence of this isoform differs from the canonical sequence as follows:
         2220-2240: HPPPPDKDRYAQERPDHGRAR → RFLCFFFPFFLPCLKTVGLGL
         2241-2505: Missing.

    Show »
    Length:2,240
    Mass (Da):254,343
    Checksum:i3E9FDBB527ED3E46
    GO
    Isoform 8 (identifier: O00555-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         419-419: Missing.
         2314-2314: Q → QQQ

    Show »
    Length:2,506
    Mass (Da):282,564
    Checksum:iAEDF4D2A5E49263F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti725 – 7251K → KVEA in AAB61613. (PubMed:10049321)Curated
    Sequence conflicti725 – 7251K → KVEA in AAB61612. (PubMed:10049321)Curated
    Sequence conflicti896 – 8961G → D in CAA68172. (PubMed:8898206)Curated
    Sequence conflicti896 – 8961G → D in BAA94766. (PubMed:10753886)Curated
    Sequence conflicti953 – 9531D → N in BAA94766. (PubMed:10753886)Curated
    Sequence conflicti964 – 9641R → S in BAA94766. (PubMed:10753886)Curated
    Sequence conflicti1207 – 12071E → EE in CAA68172. (PubMed:8898206)Curated
    Sequence conflicti1313 – 13153WNI → ILP in AAB49674. (PubMed:8988170)Curated
    Sequence conflicti1313 – 13153WNI → ILP in AAB49675. (PubMed:8988170)Curated
    Sequence conflicti1313 – 13153WNI → ILP in AAB49676. (PubMed:8988170)Curated
    Sequence conflicti1313 – 13153WNI → ILP in AAB49677. (PubMed:8988170)Curated
    Sequence conflicti1313 – 13153WNI → ILP in AAB49678. (PubMed:8988170)Curated
    Sequence conflicti1459 – 14591G → A in CAA68172. (PubMed:8898206)Curated
    Sequence conflicti1604 – 16041V → A in CAA68172. (PubMed:8898206)Curated
    Sequence conflicti1617 – 16171V → A in CAA68172. (PubMed:8898206)Curated
    Sequence conflicti1651 – 16511G → GNP in AAB61613. (PubMed:10049321)Curated
    Sequence conflicti1651 – 16511G → GNP in AAB61612. (PubMed:10049321)Curated
    Sequence conflicti1693 – 16931P → A in AAB33068. (PubMed:7823133)Curated
    Sequence conflicti2038 – 20381E → G in U06702. (PubMed:8525433)Curated
    Sequence conflicti2314 – 23141Q → QQ in AAB49676. (PubMed:8988170)Curated

    Polymorphismi

    The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211A → V.
    Corresponds to variant rs15999 [ dbSNP | Ensembl ].
    VAR_014456
    Natural varianti192 – 1921R → Q in FHM1. 1 Publication
    Corresponds to variant rs121908211 [ dbSNP | Ensembl ].
    VAR_001491
    Natural varianti195 – 1951R → K in FHM1. 1 Publication
    Corresponds to variant rs121908222 [ dbSNP | Ensembl ].
    VAR_043820
    Natural varianti218 – 2181S → L in FHM1. 1 Publication
    Corresponds to variant rs121908225 [ dbSNP | Ensembl ].
    VAR_043821
    Natural varianti248 – 2481Y → C in EA2. 1 Publication
    Corresponds to variant rs121908238 [ dbSNP | Ensembl ].
    VAR_063683
    Natural varianti253 – 2531H → Y in EA2. 1 Publication
    Corresponds to variant rs121908228 [ dbSNP | Ensembl ].
    VAR_043822
    Natural varianti256 – 2561C → R in EA2. 1 Publication
    Corresponds to variant rs121908231 [ dbSNP | Ensembl ].
    VAR_043823
    Natural varianti287 – 2871C → Y in EA2. 1 Publication
    Corresponds to variant rs121908236 [ dbSNP | Ensembl ].
    VAR_043824
    Natural varianti293 – 2931G → R in EA2 and SCA6. 2 Publications
    Corresponds to variant rs121908215 [ dbSNP | Ensembl ].
    VAR_043825
    Natural varianti388 – 3881E → K in EA2. 1 Publication
    VAR_067342
    Natural varianti389 – 3891L → F in EA2. 1 Publication
    Corresponds to variant rs121908239 [ dbSNP | Ensembl ].
    VAR_063684
    Natural varianti405 – 4051A → T in SCA6. 1 Publication
    Corresponds to variant rs1219082456 [ dbSNP | Ensembl ].
    VAR_063685
    Natural varianti454 – 4541A → T.1 Publication
    Corresponds to variant rs41276886 [ dbSNP | Ensembl ].
    VAR_063686
    Natural varianti501 – 5011T → M in EA2. 1 Publication
    Corresponds to variant rs121908240 [ dbSNP | Ensembl ].
    VAR_063687
    Natural varianti583 – 5831R → Q in FHM1. 1 Publication
    Corresponds to variant rs121908217 [ dbSNP | Ensembl ].
    VAR_043826
    Natural varianti638 – 6381G → D in EA2; reduces P/Q current densities. 1 Publication
    Corresponds to variant rs121908246 [ dbSNP | Ensembl ].
    VAR_063688
    Natural varianti666 – 6661T → M in FHM1 and EA2. 3 Publications
    Corresponds to variant rs121908212 [ dbSNP | Ensembl ].
    VAR_001492
    Natural varianti714 – 7141V → A in FHM1. 1 Publication
    Corresponds to variant rs121908213 [ dbSNP | Ensembl ].
    VAR_001493
    Natural varianti715 – 7151D → E in FHM1. 1 Publication
    Corresponds to variant rs121908218 [ dbSNP | Ensembl ].
    VAR_043827
    Natural varianti732 – 7321E → A.
    Corresponds to variant rs16019 [ dbSNP | Ensembl ].
    VAR_059221
    Natural varianti798 – 7981M → T in EA2. 1 Publication
    Corresponds to variant rs121908241 [ dbSNP | Ensembl ].
    VAR_063689
    Natural varianti897 – 8971P → R in EA2. 1 Publication
    Corresponds to variant rs121908242 [ dbSNP | Ensembl ].
    VAR_063690
    Natural varianti914 – 9141P → S.
    Corresponds to variant rs16020 [ dbSNP | Ensembl ].
    VAR_014458
    Natural varianti918 – 9181E → D.2 Publications
    Corresponds to variant rs16022 [ dbSNP | Ensembl ].
    VAR_014459
    Natural varianti993 – 9931E → V.3 Publications
    Corresponds to variant rs16023 [ dbSNP | Ensembl ].
    VAR_043828
    Natural varianti1015 – 10151E → K.
    Corresponds to variant rs16024 [ dbSNP | Ensembl ].
    VAR_014461
    Natural varianti1105 – 11051G → S.2 Publications
    Corresponds to variant rs16027 [ dbSNP | Ensembl ].
    VAR_014462
    Natural varianti1173 – 11731P → L.
    Corresponds to variant rs16028 [ dbSNP | Ensembl ].
    VAR_059222
    Natural varianti1335 – 13351K → E in FHM1. 1 Publication
    Corresponds to variant rs121908223 [ dbSNP | Ensembl ].
    VAR_043829
    Natural varianti1346 – 13461R → Q in FHM1; with progressive cerebellar ataxia. 2 Publications
    Corresponds to variant rs121908230 [ dbSNP | Ensembl ].
    VAR_043830
    Natural varianti1384 – 13841Y → C in FHM1. 1 Publication
    Corresponds to variant rs121908219 [ dbSNP | Ensembl ].
    VAR_043831
    Natural varianti1403 – 14031F → C in EA2; loss of function. 1 Publication
    Corresponds to variant rs121908227 [ dbSNP | Ensembl ].
    VAR_043832
    Natural varianti1456 – 14561V → L in FHM1. 1 Publication
    Corresponds to variant rs121908237 [ dbSNP | Ensembl ].
    VAR_043833
    Natural varianti1482 – 14821G → R in EA2. 1 Publication
    Corresponds to variant rs121908232 [ dbSNP | Ensembl ].
    VAR_043834
    Natural varianti1490 – 14901F → S in EA2. 1 Publication
    Corresponds to variant rs121908233 [ dbSNP | Ensembl ].
    VAR_043835
    Natural varianti1493 – 14931V → I in EA2. 1 Publication
    Corresponds to variant rs121908234 [ dbSNP | Ensembl ].
    VAR_043836
    Natural varianti1661 – 16611R → H in EA2. 1 Publication
    Corresponds to variant rs121908216 [ dbSNP | Ensembl ].
    VAR_043837
    Natural varianti1664 – 16641R → Q in SCA6. 1 Publication
    Corresponds to variant rs121908247 [ dbSNP | Ensembl ].
    VAR_063691
    Natural varianti1667 – 16671R → W in FHM1. 1 Publication
    Corresponds to variant rs121908220 [ dbSNP | Ensembl ].
    VAR_043838
    Natural varianti1679 – 16791R → C in EA2. 1 Publication
    Corresponds to variant rs121908243 [ dbSNP | Ensembl ].
    VAR_063692
    Natural varianti1683 – 16831W → R in FHM1. 1 Publication
    Corresponds to variant rs121908221 [ dbSNP | Ensembl ].
    VAR_043839
    Natural varianti1695 – 16951V → I in FHM1. 1 Publication
    Corresponds to variant rs121908224 [ dbSNP | Ensembl ].
    VAR_063706
    Natural varianti1736 – 17361H → L in EA2. 1 Publication
    Corresponds to variant rs121908229 [ dbSNP | Ensembl ].
    VAR_043840
    Natural varianti1756 – 17561E → K in EA2. 1 Publication
    Corresponds to variant rs121908226 [ dbSNP | Ensembl ].
    VAR_043841
    Natural varianti1810 – 18101I → L in FHM1. 1 Publication
    Corresponds to variant rs121908214 [ dbSNP | Ensembl ].
    VAR_001494
    Natural varianti1869 – 18691C → R in EA2. 1 Publication
    Corresponds to variant rs121908244 [ dbSNP | Ensembl ].
    VAR_063693
    Natural varianti2135 – 21351R → C in EA2. 1 Publication
    Corresponds to variant rs121908235 [ dbSNP | Ensembl ].
    VAR_043842
    Natural varianti2394 – 23941P → S.
    Corresponds to variant rs16056 [ dbSNP | Ensembl ].
    VAR_014463

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei419 – 4191Missing in isoform 8. 1 PublicationVSP_046165
    Alternative sequencei1844 – 187532WGRMP…ARVAY → CGRIHYKDMYSLLRVISPPL GLGKKCPHRVAC in isoform 3 and isoform 4. 2 PublicationsVSP_000871Add
    BLAST
    Alternative sequencei2103 – 211412Missing in isoform 5 and isoform 6. 1 PublicationVSP_000872Add
    BLAST
    Alternative sequencei2220 – 224021HPPPP…HGRAR → RFLCFFFPFFLPCLKTVGLG L in isoform 7. 1 PublicationVSP_000873Add
    BLAST
    Alternative sequencei2241 – 2505265Missing in isoform 7. 1 PublicationVSP_000874Add
    BLAST
    Alternative sequencei2262 – 2505244Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsVSP_000875Add
    BLAST
    Alternative sequencei2314 – 23141Q → QQQ in isoform 8. 1 PublicationVSP_046166

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF004883 mRNA. Translation: AAB61612.1.
    AF004884 mRNA. Translation: AAB61613.1.
    X99897 mRNA. Translation: CAA68172.1.
    Z80114 Genomic DNA. No translation available.
    Z80115 Genomic DNA. No translation available.
    U79663 mRNA. Translation: AAB49674.1.
    U79664 mRNA. Translation: AAB49675.1.
    U79665 mRNA. Translation: AAB49676.1.
    U79666 mRNA. Translation: AAB64179.1.
    U79667 mRNA. Translation: AAB49677.1.
    U79668 mRNA. Translation: AAB49678.1.
    AB035727 mRNA. Translation: BAA94766.2.
    AC005305 Genomic DNA. Translation: AAC26839.1.
    AC005513 Genomic DNA. No translation available.
    AC008540 Genomic DNA. No translation available.
    AC011446 Genomic DNA. No translation available.
    AC022436 Genomic DNA. No translation available.
    AC026805 Genomic DNA. No translation available.
    AC093062 Genomic DNA. No translation available.
    AC098781 Genomic DNA. No translation available.
    AC124224 Genomic DNA. No translation available.
    S76537 mRNA. Translation: AAB33068.1.
    U06702 mRNA. No translation available.
    CCDSiCCDS45998.1. [O00555-8]
    CCDS45999.1. [O00555-3]
    RefSeqiNP_000059.3. NM_000068.3.
    NP_001120693.1. NM_001127221.1. [O00555-3]
    NP_001120694.1. NM_001127222.1. [O00555-8]
    NP_001167551.1. NM_001174080.1.
    NP_075461.2. NM_023035.2.
    UniGeneiHs.501632.

    Genome annotation databases

    EnsembliENST00000360228; ENSP00000353362; ENSG00000141837. [O00555-8]
    ENST00000573710; ENSP00000460092; ENSG00000141837. [O00555-3]
    GeneIDi773.
    KEGGihsa:773.
    UCSCiuc010dze.2. human. [O00555-3]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Web resourcesi

    Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A)

    Leiden Open Variation Database (LOVD)

    Familial hemiplegic migraine (FHM) variation database, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF004883 mRNA. Translation: AAB61612.1 .
    AF004884 mRNA. Translation: AAB61613.1 .
    X99897 mRNA. Translation: CAA68172.1 .
    Z80114 Genomic DNA. No translation available.
    Z80115 Genomic DNA. No translation available.
    U79663 mRNA. Translation: AAB49674.1 .
    U79664 mRNA. Translation: AAB49675.1 .
    U79665 mRNA. Translation: AAB49676.1 .
    U79666 mRNA. Translation: AAB64179.1 .
    U79667 mRNA. Translation: AAB49677.1 .
    U79668 mRNA. Translation: AAB49678.1 .
    AB035727 mRNA. Translation: BAA94766.2 .
    AC005305 Genomic DNA. Translation: AAC26839.1 .
    AC005513 Genomic DNA. No translation available.
    AC008540 Genomic DNA. No translation available.
    AC011446 Genomic DNA. No translation available.
    AC022436 Genomic DNA. No translation available.
    AC026805 Genomic DNA. No translation available.
    AC093062 Genomic DNA. No translation available.
    AC098781 Genomic DNA. No translation available.
    AC124224 Genomic DNA. No translation available.
    S76537 mRNA. Translation: AAB33068.1 .
    U06702 mRNA. No translation available.
    CCDSi CCDS45998.1. [O00555-8 ]
    CCDS45999.1. [O00555-3 ]
    RefSeqi NP_000059.3. NM_000068.3.
    NP_001120693.1. NM_001127221.1. [O00555-3 ]
    NP_001120694.1. NM_001127222.1. [O00555-8 ]
    NP_001167551.1. NM_001174080.1.
    NP_075461.2. NM_023035.2.
    UniGenei Hs.501632.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3BXK X-ray 2.55 B/D 1955-1975 [» ]
    ProteinModelPortali O00555.
    SMRi O00555. Positions 100-411, 489-740, 1240-1511, 1558-1812, 1895-1972.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107227. 94 interactions.
    IntActi O00555. 90 interactions.

    Chemistry

    BindingDBi O00555.
    ChEMBLi CHEMBL4266.
    DrugBanki DB01244. Bepridil.
    DB00568. Cinnarizine.
    DB00836. Loperamide.
    DB00401. Nisoldipine.
    DB00230. Pregabalin.
    GuidetoPHARMACOLOGYi 532.

    Protein family/group databases

    TCDBi 1.A.1.11.27. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei O00555.

    Proteomic databases

    MaxQBi O00555.
    PaxDbi O00555.
    PRIDEi O00555.

    Protocols and materials databases

    DNASUi 773.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360228 ; ENSP00000353362 ; ENSG00000141837 . [O00555-8 ]
    ENST00000573710 ; ENSP00000460092 ; ENSG00000141837 . [O00555-3 ]
    GeneIDi 773.
    KEGGi hsa:773.
    UCSCi uc010dze.2. human. [O00555-3 ]

    Organism-specific databases

    CTDi 773.
    GeneCardsi GC19M013317.
    GeneReviewsi CACNA1A.
    HGNCi HGNC:1388. CACNA1A.
    MIMi 108500. phenotype.
    141500. phenotype.
    183086. phenotype.
    601011. gene.
    neXtProti NX_O00555.
    Orphaneti 2131. Alternating hemiplegia of childhood.
    71518. Benign paroxysmal torticollis of infancy.
    569. Familial or sporadic hemiplegic migraine.
    97. Familial paroxysmal ataxia.
    98758. Spinocerebellar ataxia type 6.
    PharmGKBi PA26007.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOVERGENi HBG050763.
    InParanoidi O00555.
    KOi K04344.
    OMAi QPGFWEG.
    OrthoDBi EOG7T1RBQ.
    PhylomeDBi O00555.
    TreeFami TF312805.

    Enzyme and pathway databases

    Reactomei REACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
    REACT_18325. Regulation of insulin secretion.

    Miscellaneous databases

    ChiTaRSi CACNA1A. human.
    EvolutionaryTracei O00555.
    GeneWikii Cav2.1.
    GenomeRNAii 773.
    NextBioi 3122.
    PROi O00555.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00555.
    Bgeei O00555.
    Genevestigatori O00555.

    Family and domain databases

    Gene3Di 1.20.120.350. 4 hits.
    InterProi IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR014873. VDCC_a1su_IQ.
    IPR005448. VDCC_P/Q_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view ]
    PANTHERi PTHR10037:SF59. PTHR10037:SF59. 1 hit.
    Pfami PF08763. Ca_chan_IQ. 1 hit.
    PF00520. Ion_trans. 4 hits.
    [Graphical view ]
    PRINTSi PR00167. CACHANNEL.
    PR01632. PQVDCCALPHA1.
    SMARTi SM01062. Ca_chan_IQ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels."
      Hans M., Urrutia A., Deal C., Brust P.F., Stauderman K., Ellis S.B., Harpold M.M., Johnson E.C., Williams M.E.
      Biophys. J. 76:1384-1400(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Neuron.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANTS FHM1 GLN-192; MET-666; ALA-714 AND LEU-1810, VARIANT THR-454, INVOLVEMENT IN EA2.
      Tissue: Cerebellum.
    3. "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel."
      Zhuchenko O., Bailey J., Bonnen P.E., Ashizawa T., Stockton D.W., Amos C., Dobyns W.B., Subramony S.H., Zoghbi H.Y., Lee C.C.
      Nat. Genet. 15:62-69(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1313-2505 (ISOFORMS 1; 2; 3; 6 AND 7), ALTERNATIVE SPLICING, INVOLVEMENT IN SCA6.
      Tissue: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8), VARIANT SER-1105.
      Tissue: Cerebellum.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells."
      Barry E.L.R., Viglione M.P., Kim Y.I., Froehner S.C.
      J. Neurosci. 15:274-283(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1693-1807.
      Tissue: Lung carcinoma.
    7. "Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma."
      Oguro-Okano M., Griesmann G.E., Wieben E.D., Slaymaker S.J., Snutch T.P., Lennon V.A.
      Mayo Clin. Proc. 67:1150-1159(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1702-1822, TISSUE SPECIFICITY.
      Tissue: Lung carcinoma.
    8. "Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain."
      Margolis R.L., Breschel T.S., Li S.H., Kidwai A.S., Antonarakis S.E., McInnis M.G., Ross C.A.
      Somat. Cell Mol. Genet. 21:279-284(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2038-2258 (ISOFORMS 1/2/3/4).
      Tissue: Frontal cortex.
    9. "Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1."
      Lee A., Westenbroek R.E., Haeseleer F., Palczewski K., Scheuer T., Catterall W.A.
      Nat. Neurosci. 5:210-217(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CABP1.
    10. "Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+."
      Mori M.X., Vander Kooi C.W., Leahy D.J., Yue D.T.
      Structure 16:607-620(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 1955-1975.
    11. "Progressive ataxia due to a missense mutation in a calcium-channel gene."
      Yue Q., Jen J.C., Nelson S.F., Baloh R.W.
      Am. J. Hum. Genet. 61:1078-1087(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCA6 ARG-293.
    12. "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p."
      Jodice C., Mantuano E., Veneziano L., Trettel F., Sabbadini G., Calandriello L., Francia A., Spadaro M., Pierelli F., Salvi F., Ophoff R.A., Frants R.R., Frontali M.
      Hum. Mol. Genet. 6:1973-1978(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM, INVOLVEMENT IN SCA6 AND EA2.
    13. "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM."
      Friend K.L., Crimmins D., Phan T.G., Sue C.M., Colley A., Fung V.S., Morris J.G., Sutherland G.R., Richards R.I.
      Hum. Genet. 105:261-265(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 HIS-1661.
    14. "Genetic heterogeneity in Italian families with familial hemiplegic migraine."
      Carrera P., Piatti M., Stenirri S., Grimaldi L.M., Marchioni E., Curcio M., Righetti P.G., Ferrari M., Gelfi C.
      Neurology 53:26-33(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VAL-993, VARIANT FHM1 LEU-1456.
    15. "Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine."
      Kors E.E., Terwindt G.M., Vermeulen F.L., Fitzsimons R.B., Jardine P.E., Heywood P., Love S., van den Maagdenberg A.M., Haan J., Frants R.R., Ferrari M.D.
      Ann. Neurol. 49:753-760(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FHM1 LEU-218.
    16. Cited for: VARIANT EA2 LYS-1756.
    17. "The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel."
      Ducros A., Denier C., Joutel A., Cecillon M., Lescoat C., Vahedi K., Darcel F., Vicaut E., Bousser M.G., Tournier-Lasserve E.
      N. Engl. J. Med. 345:17-24(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FHM1 LYS-195; GLN-583; MET-666; GLU-715; GLU-1335; CYS-1384; TRP-1667; ARG-1683 AND ILE-1695.
    18. "Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission."
      Jen J., Wan J., Graves M., Yu H., Mock A.F., Coulin C.J., Kim G., Yue Q., Papazian D.M., Baloh R.W.
      Neurology 57:1843-1848(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 CYS-1403, CHARACTERIZATION OF VARIANT EA2 CYS-1403.
    19. "Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene."
      van den Maagdenberg A.M., Kors E.E., Brunt E.R., van Paesschen W., Pascual J., Ravine D., Keeling S., Vanmolkot K.R., Vermeulen F.L., Terwindt G.M., Haan J., Frants R.R., Ferrari M.D.
      J. Neurol. 249:1515-1519(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 TYR-253.
    20. "Functional implications of a novel EA2 mutation in the P/Q-type calcium channel."
      Spacey S.D., Hildebrand M.E., Materek L.A., Bird T.D., Snutch T.P.
      Ann. Neurol. 56:213-220(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 LEU-1736.
    21. "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine."
      Alonso I., Barros J., Tuna A., Seixas A., Coutinho P., Sequeiros J., Silveira I.
      Clin. Genet. 65:70-72(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FHM1 GLN-1346.
    22. "Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2."
      Mantuano E., Veneziano L., Spadaro M., Giunti P., Guida S., Leggio M.G., Verriello L., Wood N., Jodice C., Frontali M.
      J. Med. Genet. 41:E82-E82(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EA2 ARG-256; ARG-1482; SER-1490; ILE-1493 AND CYS-2135.
    23. "Clinical spectrum of episodic ataxia type 2."
      Jen J., Kim G.W., Baloh R.W.
      Neurology 62:17-22(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EA2 TYR-287; ARG-293 AND MET-666.
    24. "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4."
      von Brevern M., Ta N., Shankar A., Wiste A., Siegel A., Radtke A., Sander T., Escayg A.
      Headache 46:1136-1141(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASP-918; VAL-993 AND SER-1105.
    25. "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene."
      Tonelli A., D'Angelo M.G., Salati R., Villa L., Germinasi C., Frattini T., Meola G., Turconi A.C., Bresolin N., Bassi M.T.
      J. Neurol. Sci. 241:13-17(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCA6 GLN-1664.
    26. Cited for: VARIANT FHM1 GLN-1346.
    27. "Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation."
      Zafeiriou D.I., Lehmann-Horn F., Vargiami E., Teflioudi E., Ververi A., Jurkat-Rott K.
      Eur. J. Paediatr. Neurol. 13:191-193(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 CYS-248.
    28. "Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene."
      Cuenca-Leon E., Banchs I., Serra S.A., Latorre P., Fernandez-Castillo N., Corominas R., Valverde M.A., Volpini V., Fernandez-Fernandez J.M., Macaya A., Cormand B.
      J. Neurol. Sci. 280:10-14(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 ASP-638, CHARACTERIZATION OF VARIANT EA2 ASP-638.
    29. "The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility."
      D'Onofrio M., Ambrosini A., Di Mambro A., Arisi I., Santorelli F.M., Grieco G.S., Nicoletti F., Nappi G., Pierelli F., Schoenen J., Buzzi M.G.
      Neurosci. Lett. 453:12-15(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASP-918 AND VAL-993.
    30. "A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation."
      Romaniello R., Zucca C., Tonelli A., Bonato S., Baschirotto C., Zanotta N., Epifanio R., Righini A., Bresolin N., Bassi M.T., Borgatti R.
      J. Neurol. Neurosurg. Psych. 81:840-843(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCA6 THR-405.
    31. "Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2."
      Mantuano E., Romano S., Veneziano L., Gellera C., Castellotti B., Caimi S., Testa D., Estienne M., Zorzi G., Bugiani M., Rajabally Y.A., Barcina M.J., Servidei S., Panico A., Frontali M., Mariotti C.
      J. Neurol. Sci. 291:30-36(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EA2 PHE-389; MET-501; THR-798; ARG-897; CYS-1679 AND ARG-1869.
    32. "New mutation of CACNA1A gene in episodic ataxia type 2."
      Nikaido K., Tachi N., Ohya K., Wada T., Tsutsumi H.
      Pediatr. Int. 53:415-416(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA2 LYS-388.

    Entry informationi

    Entry nameiCAC1A_HUMAN
    AccessioniPrimary (citable) accession number: O00555
    Secondary accession number(s): J3KP41
    , P78510, P78511, Q16290, Q92690, Q99790, Q99791, Q99792, Q99793, Q9NS88, Q9UDC4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 152 of the entry and version 2 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 19
      Human chromosome 19: 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