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CACNA1A

GENERAL INFORMATION

Gene name

 CACNA1A

Gene description

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

Protein class

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

Predicted localization

 Intracellular,Membrane

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

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

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Distinct expression in oligodendrocytes.

ANTIBODY IHC RELIABILITY

Data reliability
description

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

Reliability score

 Supported based on 1 antibody.
HPA064258
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PROGNOSTIC SUMMARY
Prognostic marker in pancreatic cancer (favourable).
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Glioma

STAINING SUMMARY
HPA064258

GENE INFORMATION

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

PROTEIN INFORMATION

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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.