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CACNA1A
HPA
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  • TISSUE
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Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
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Interacting gene (ensg_id)
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • CACNA1A
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

CACNA1A
Synonyms APCA, CACNL1A4, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6
Gene descriptioni

Full gene name according to HGNC.

Calcium voltage-gated channel subunit alpha1 A
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
FDA approved drug targets
Human disease related genes
Plasma proteins
Transporters
Voltage-gated ion channels
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Horizontal & Bipolar cells - Neuronal signaling (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Group enriched (Bipolar cells, Enteroendocrine cells, Excitatory neurons, Horizontal cells, Inhibitory neurons, Oligodendrocyte precursor cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Cerebellum - Nervous system development (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Tissue enriched (Brain)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Endoplasmic reticulum
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
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.

Chromosome 19
Cytoband p13.13
Chromosome location (bp) 13206442 - 13633025
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

21
Ensembl ENSG00000141837 (version 109)
Entrez gene 773
HGNC HGNC:1388
UniProt O00555 (UniProt - Evidence at protein level)
neXtProt NX_O00555
GeneCards CACNA1A
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

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.

Below 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). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also 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-201
CACNA1A-202
CACNA1A-206
CACNA1A-209
CACNA1A-211
CACNA1A-214
CACNA1A-217
CACNA1A-220
CACNA1A-224
CACNA1A-225
CACNA1A-226
CACNA1A-237
CACNA1A-238
CACNA1A-239
CACNA1A-245
CACNA1A-246
CACNA1A-250
CACNA1A-252
CACNA1A-256
CACNA1A-257
CACNA1A-259
»

Description:

Color scheme:
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PROTEIN INFORMATIONi

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

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
CACNA1A-201
O00555
Show all
Transporters
Voltage-gated ion channels
Predicted membrane proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
2506 aa
282.6 kDa
No >9
CACNA1A-202
A0A1C7CYY9
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2508 aa
282.6 kDa
No >9
CACNA1A-206
K7EKF7
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
881 aa
98.8 kDa
No 3
CACNA1A-209
K7EQ95
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
981 aa
110.4 kDa
No 6
CACNA1A-211
K7EIF8
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
89 aa
10.1 kDa
No 0
CACNA1A-214
A0A1B0GU81
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2507 aa
282.6 kDa
No >9
CACNA1A-217
A0A384DVW2
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2261 aa
256.9 kDa
No >9
CACNA1A-220
A0A1B0GUS3
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2495 aa
281.2 kDa
No >9
CACNA1A-224
A0A1B0GU74
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2302 aa
261.4 kDa
No >9
CACNA1A-225
A0A1B0GUM7
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
550 aa
63.3 kDa
No 3
CACNA1A-226
B5TYJ1
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
2263 aa
257.1 kDa
No >9
CACNA1A-237
O00555
Show all
Transporters
Voltage-gated ion channels
Predicted membrane proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
2249 aa
255.5 kDa
No >9
CACNA1A-238
A0A1B0GTG6
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
212 aa
24.6 kDa
No 2
CACNA1A-239
O00555
Show all
Transporters
Voltage-gated ion channels
Predicted membrane proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
2266 aa
257.4 kDa
No >9
CACNA1A-245
A0A1B0GTW2
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2460 aa
277 kDa
No >9
CACNA1A-246
A0A1B0GTN7
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2507 aa
282.5 kDa
No >9
CACNA1A-250
A0A1B0GVX1
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
459 aa
53.1 kDa
No 6
CACNA1A-252
A0A1B0GTI4
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2262 aa
256.9 kDa
No >9
CACNA1A-256
O00555
Show all
Transporters
Voltage-gated ion channels
Predicted membrane proteins
Plasma proteins
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
2261 aa
256.8 kDa
No >9
CACNA1A-257
A0A087WW63
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
2512 aa
283.1 kDa
No >9
CACNA1A-259
A0A590UJK2
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
2328 aa
264.4 kDa
No >9
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Cerebellum - Nervous system development

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 10
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABI1111329100
ADGRL111100
AMIGO212100
ARHGAP2212500
CSNK2B572911715437
PUF6012234100
RBM12B11400
TSPOAP112200
TUBB2B318330
YLPM14214200
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 18 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABI1111329100
ADGRL111100
AMIGO212100
ARHGAP2212500
CSNK2B572911715437
DNAJB5411044
GRN32181100
HIVEP1971650
LTBP412300
MATN202000
MEGF603000
MEGF812200
PUF6012234100
RBM12B11400
TSPOAP112200
TUBB2B318330
UQCRC2264101
YLPM14214200
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class
In same cell type



Number of interactions: 13
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABI1111329100
ADGRL111100
AMIGO212100
ARHGAP2212500
CABP111300
CACNB402100
CSNK2B572911715437
LAMB1146420
PUF6012234100
RBM12B11400
TSPOAP112200
TUBB2B318330
YLPM14214200
Show allShow less
CACNA1A has no defined protein interactions in OpenCell.
CACNA1A has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

CACNA1A is not a metabolic protein

Contact

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