Basic information

Full name
calcium voltage-gated channel subunit alpha1 A
Ensembl
ENSG00000141837.21
Summary
Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
Annotation
Druggable target (Tier T4)

Protein product

  • ENST00000360228.11 Primary ENSP00000353362.5 (36 phosphosites)
  • ENST00000637432.1
  • ENST00000636549.1
  • ENST00000637927.1
  • ENST00000635895.1
  • ENST00000638009.2
  • ENST00000637276.1
  • ENST00000592864.3
  • ENST00000614285.4
  • ENST00000638029.1
  • ENST00000573710.7
  • ENST00000637769.1
  • ENST00000635727.1
  • ENST00000636012.1
  • ENST00000637736.1
  • ENST00000664864.1
  • ENST00000636389.1
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA3.9e-5-2.6e-5--0.0245.4e-90.55--2.3e-4-
protein-----------

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC01234567891011121314log2(RSEM+1)tumornormal
Protein expression
BRCAGBMLUAD131415161718192021222324log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer02468101214160-2-4-6-8-10-12-14-16proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of CACNA1A with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
DISEASE-PSP_Alzheimer's_disease2.2e-16---2.2e-16------
HALLMARK_KRAS_SIGNALING_DN4.1e-7---4.1e-7------
HALLMARK_PANCREAS_BETA_CELLS2.4e-6---2.4e-6------
HALLMARK_HEDGEHOG_SIGNALING1.6e-3---1.6e-3------
HALLMARK_SPERMATOGENESIS6.7e-3---6.7e-3------
KINASE-PSP_CDK50.013---0.013------
xcell: Common myeloid progenitor0.044---0.044------
Clinical: Age0.047---0.047------
cibersort: NK cell activated0.076---0.076------
PROGENy: Androgen0.079---0.079------
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of CACNA1A

BRCA0.23proteinmRNASCNVmethylationCCRCC-0.10-0.170.14proteinmRNASCNVmethylationCOAD-0.21proteinmRNASCNVmethylationGBM0.17-0.070.06-0.22-0.18-0.10proteinmRNASCNVmethylationHNSCC-0.030.220.08proteinmRNASCNVmethylationLSCC0.09-0.000.18proteinmRNASCNVmethylationLUAD0.010.130.32proteinmRNASCNVmethylationOV0.49proteinmRNASCNVmethylationPDAC-0.080.25-0.02proteinmRNASCNVmethylationUCEC-0.240.080.05proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of CACNA1A and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.