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Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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CACNA1A
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    TISSUE

  • CELL

  • PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

CACNA1A

Gene descriptioni

Gene description according to HGNC.

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

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Intracellular,Membrane

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

7
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA categoryi

RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.

TCGA (cancer tissue):Mixed
HPA (cell line):Group enriched (SCLC-21H, U-87 MG)
HPA (normal tissue):Tissue enhanced (cerebral cortex)

Protein evidencei

Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.

Evidence at protein level

Protein expression
normal tissuei

A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.

"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.

Read more

Distinct expression in oligodendrocytes.

ANTIBODY IHC RELIABILITY

Data reliability
descriptioni

Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability scorei

Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Read more

Supported based on 1 antibody.
HPA064258
SHOW MORE

PROGNOSTIC SUMMARYi

Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.

Prognostic marker in pancreatic cancer (favourable).
Pancreatic cancer p<0.001
Show all

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-seq data from The Cancer Genome Atlas (TCGA).

TCGA dataseti
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

Read more
RNA cancer category: Mixed

PROTEIN EXPRESSIONi

Antibody staining in 20 different cancers is summarized by a selection of four standard cancer tissue samples representative of the overall staining pattern. From left: colorectal cancer, breast cancer, prostate cancer and lung cancer. An additional fifth image can be added as a complement. The assay and annotation is described here. Note that samples used for immunohistochemistry by the Human Protein Atlas do not correspond to samples in the TCGA dataset.

For histological reference, visit the histological dictionary.

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Glioma

STAINING SUMMARYi

For each cancer, the fraction of samples with protein expression level high, medium, low, or not detected are provided by the blue-scale color-coding (as described by the color-coding scale in the box to the left). The length of the bar represents the number of patient samples analyzed (max=12 patients). The images and annotations can be accessed by clicking on the cancer name or protein expression bar. If more than one antibody is analyzed, the tabs at the top of the staining summary section can be used to toggle between the different antibodies. The mouse-over function displays additional data for the features in the staining summary view.

Next to the cancer staining data, the protein expression data of normal tissues or specific cell types corresponding to each cancer are shown and protein expression levels are indicated by the blue-scale color coding.

HPA064258

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summaryi

A manually written summary of the overall protein expression pattern across the analyzed cancer tissues.

Few cases of gliomas and hepatocellular carcinomas showed moderate to strong cytoplasmic staining. Remaining cancer tissues were negative.

GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Gene name

CACNA1A (HGNC Symbol)

Synonyms

APCA, CACNL1A4, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6

Description

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

Entrez gene 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 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]

Chromosome

19

Cytoband

p13.13

Chromosome location (bp)

13206442 - 13623990

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000141837 (version 83.38)

Entrez gene

773

UniProt

O00555 (UniProt - Evidence at protein level)

neXtProt

NX_O00555

Antibodypedia

CACNA1A antibodies

PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.

CACNA1A-001
CACNA1A-002
CACNA1A-006
CACNA1A-007
CACNA1A-012
CACNA1A-013
CACNA1A-201

PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNA1A-001
ENSP00000353362
ENST00000360228
O00555 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006006 [glucose metabolic process]
GO:0006112 [energy reserve metabolic process]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007214 [gamma-aminobutyric acid signaling pathway]
GO:0007268 [synaptic transmission]
GO:0007270 [neuron-neuron synaptic transmission]
GO:0007274 [neuromuscular synaptic transmission]
GO:0007416 [synapse assembly]
GO:0007628 [adult walking behavior]
GO:0008219 [cell death]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0014051 [gamma-aminobutyric acid secretion]
GO:0014056 [regulation of acetylcholine secretion, neurotransmission]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016049 [cell growth]
GO:0017156 [calcium ion-dependent exocytosis]
GO:0017158 [regulation of calcium ion-dependent exocytosis]
GO:0019226 [transmission of nerve impulse]
GO:0019905 [syntaxin binding]
GO:0021522 [spinal cord motor neuron differentiation]
GO:0021590 [cerebellum maturation]
GO:0021679 [cerebellar molecular layer development]
GO:0021680 [cerebellar Purkinje cell layer development]
GO:0021702 [cerebellar Purkinje cell differentiation]
GO:0021750 [vestibular nucleus development]
GO:0021953 [central nervous system neuron differentiation]
GO:0030425 [dendrite]
GO:0030644 [cellular chloride ion homeostasis]
GO:0032353 [negative regulation of hormone biosynthetic process]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035249 [synaptic transmission, glutamatergic]
GO:0042133 [neurotransmitter metabolic process]
GO:0042391 [regulation of membrane potential]
GO:0042445 [hormone metabolic process]
GO:0042995 [cell projection]
GO:0043025 [neuronal cell body]
GO:0043113 [receptor clustering]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0048265 [response to pain]
GO:0048266 [behavioral response to pain]
GO:0048791 [calcium ion-dependent exocytosis of neurotransmitter]
GO:0048813 [dendrite morphogenesis]
GO:0050770 [regulation of axonogenesis]
GO:0050796 [regulation of insulin secretion]
GO:0050877 [neurological system process]
GO:0050883 [musculoskeletal movement, spinal reflex action]
GO:0050885 [neuromuscular process controlling balance]
GO:0050905 [neuromuscular process]
GO:0051899 [membrane depolarization]
GO:0055085 [transmembrane transport]
GO:0060024 [rhythmic synaptic transmission]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
2506 aa
282.6 kDa
No >9
CACNA1A-002
ENSP00000460092
ENST00000573710
O00555 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006112 [energy reserve metabolic process]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007204 [positive regulation of cytosolic calcium ion concentration]
GO:0007268 [synaptic transmission]
GO:0008219 [cell death]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019905 [syntaxin binding]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042995 [cell projection]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050796 [regulation of insulin secretion]
GO:0051899 [membrane depolarization]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
2261 aa
256.8 kDa
No >9
CACNA1A-006
ENSP00000459963
ENST00000574974
I3L2V5 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007268 [synaptic transmission]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
103 aa
11.2 kDa
No 2
CACNA1A-007
ENSP00000464729
ENST00000592864
K7EIF8 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006816 [calcium ion transport]
GO:0007268 [synaptic transmission]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0034220 [ion transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
35 aa
4 kDa
No 0
CACNA1A-012
ENSP00000465598
ENST00000585802
K7EKF7 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007268 [synaptic transmission]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
1180 aa
133.7 kDa
No 8
CACNA1A-013
ENSP00000467729
ENST00000587525
K7EQ95 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007268 [synaptic transmission]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
981 aa
110.4 kDa
No 6
CACNA1A-201
ENSP00000479983
ENST00000614285
A0A087WW63 [Direct mapping]
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007268 [synaptic transmission]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
2512 aa
283.1 kDa
No >9

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