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O00555

- CAC1A_HUMAN

UniProt

O00555 - CAC1A_HUMAN

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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

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. syntaxin binding Source: UniProtKB
  4. 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
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_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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 9898CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei99 – 11719Helical; Name=S1 of repeat ISequence AnalysisAdd
BLAST
Topological domaini118 – 13518ExtracellularSequence AnalysisAdd
BLAST
Transmembranei136 – 15520Helical; Name=S2 of repeat ISequence AnalysisAdd
BLAST
Topological domaini156 – 16712CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei168 – 18518Helical; Name=S3 of repeat ISequence AnalysisAdd
BLAST
Topological domaini186 – 1905ExtracellularSequence Analysis
Transmembranei191 – 20919Helical; Name=S4 of repeat ISequence AnalysisAdd
BLAST
Topological domaini210 – 22819CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei229 – 24820Helical; Name=S5 of repeat ISequence AnalysisAdd
BLAST
Topological domaini249 – 33587ExtracellularSequence AnalysisAdd
BLAST
Transmembranei336 – 36025Helical; Name=S6 of repeat ISequence AnalysisAdd
BLAST
Topological domaini361 – 487127CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei488 – 50619Helical; Name=S1 of repeat IISequence AnalysisAdd
BLAST
Topological domaini507 – 52115ExtracellularSequence AnalysisAdd
BLAST
Transmembranei522 – 54120Helical; Name=S2 of repeat IISequence AnalysisAdd
BLAST
Topological domaini542 – 5498CytoplasmicSequence Analysis
Transmembranei550 – 56819Helical; Name=S3 of repeat IISequence AnalysisAdd
BLAST
Topological domaini569 – 57810ExtracellularSequence Analysis
Transmembranei579 – 59719Helical; Name=S4 of repeat IISequence AnalysisAdd
BLAST
Topological domaini598 – 61619CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei617 – 63620Helical; Name=S5 of repeat IISequence AnalysisAdd
BLAST
Topological domaini637 – 68953ExtracellularSequence AnalysisAdd
BLAST
Transmembranei690 – 71425Helical; Name=S6 of repeat IISequence AnalysisAdd
BLAST
Topological domaini715 – 1242528CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1243 – 126119Helical; Name=S1 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1262 – 127716ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1278 – 129720Helical; Name=S2 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1298 – 130912CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1310 – 132819Helical; Name=S3 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1329 – 133911ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1340 – 135819Helical; Name=S4 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1359 – 137719CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1378 – 139720Helical; Name=S5 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1398 – 148487ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1485 – 150925Helical; Name=S6 of repeat IIISequence AnalysisAdd
BLAST
Topological domaini1510 – 156455CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1565 – 159329Helical; Name=S1 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1594 – 15985ExtracellularSequence Analysis
Transmembranei1599 – 161820Helical; Name=S2 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1619 – 16268CytoplasmicSequence Analysis
Transmembranei1627 – 164519Helical; Name=S3 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1646 – 16527ExtracellularSequence Analysis
Transmembranei1653 – 167119Helical; Name=S4 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1672 – 169019CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1691 – 171020Helical; Name=S5 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1711 – 178272ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1783 – 180725Helical; Name=S6 of repeat IVSequence AnalysisAdd
BLAST
Topological domaini1808 – 2505698CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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

BgeeiO00555.
ExpressionAtlasiO00555. baseline and differential.
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 – 197015Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.

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.
GeneTreeiENSGT00760000118827.
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

        10         20         30         40         50
MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ
60 70 80 90 100
SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF
110 120 130 140 150
EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI
160 170 180 190 200
KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL
210 220 230 240 250
RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG
260 270 280 290 300
KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ
310 320 330 340 350
FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF
360 370 380 390 400
MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE
410 420 430 440 450
EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG
460 470 480 490 500
SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN
510 520 530 540 550
TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS
560 570 580 590 600
FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL
610 620 630 640 650
RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN
660 670 680 690 700
FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF
710 720 730 740 750
GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS
760 770 780 790 800
PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP
810 820 830 840 850
DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL
860 870 880 890 900
GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR
910 920 930 940 950
ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT
960 970 980 990 1000
GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG
1010 1020 1030 1040 1050
ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP
1060 1070 1080 1090 1100
IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN
1110 1120 1130 1140 1150
STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP
1160 1170 1180 1190 1200
SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE
1210 1220 1230 1240 1250
EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI
1260 1270 1280 1290 1300
LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG
1310 1320 1330 1340 1350
LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV
1360 1370 1380 1390 1400
LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK
1410 1420 1430 1440 1450
GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL
1460 1470 1480 1490 1500
LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF
1510 1520 1530 1540 1550
FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ
1560 1570 1580 1590 1600
NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV
1610 1620 1630 1640 1650
FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF
1660 1670 1680 1690 1700
GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA
1710 1720 1730 1740 1750
MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF
1760 1770 1780 1790 1800
RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF
1810 1820 1830 1840 1850
LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL
1860 1870 1880 1890 1900
DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL
1910 1920 1930 1940 1950
IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD
1960 1970 1980 1990 2000
LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG
2010 2020 2030 2040 2050
GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ
2060 2070 2080 2090 2100
GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE
2110 2120 2130 2140 2150
NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ
2160 2170 2180 2190 2200
RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER
2210 2220 2230 2240 2250
GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP
2260 2270 2280 2290 2300
SEGREHMAHR QGSSSVSGSP APSTSGTSTP RRGRRQLPQT PSTPRPHVSY
2310 2320 2330 2340 2350
SPVIRKAGGS GPPQQQQQQQ QQQQAVARPG RAATSGPRRY PGPTAEPLAG
2360 2370 2380 2390 2400
DRPPTGGHSS GRSPRMERRV PGPARSESPR ACRHGGARWP ASGPHVSEGP
2410 2420 2430 2440 2450
PGPRHHGYYR GSDYDEADGP GSGGGEEAMA GAYDAPPPVR HASSGATGRS
2460 2470 2480 2490 2500
PRTPRASGPA CASPSRHGRR LPNGYYPAHG LARPRGPGSR KGLHEPYSES

DDDWC
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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.
DB00836. Loperamide.
DB00230. Pregabalin.
DB00421. Spironolactone.
DB00661. Verapamil.
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.
GeneTreei ENSGT00760000118827.
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

Bgeei O00555.
ExpressionAtlasi O00555. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 154 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