Expression of CACNA1A in cancer - Summary

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

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

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

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
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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

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

STAINING SUMMARYⁱ

HPA064258

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

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