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CACNA1S

GENERAL INFORMATION

Gene name

 CACNA1S

Gene description

 Calcium channel, voltage-dependent, L type, alpha 1S subunit

Protein class

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

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA048892 , HPA056815 , CAB009507
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

Gene name

 CACNA1S (HGNC Symbol)

Synonyms

 CACNL1A3, Cav1.1, HOKPP, hypoPP, MHS5

Description

 Calcium channel, voltage-dependent, L type, alpha 1S subunit (HGNC Symbol)

Entrez gene summary

 This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]

Chromosome

 1

Cytoband

 q32.1

Chromosome location (bp)

 201039512 - 201112566

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000081248 (version 83.38)

Entrez gene

 779

UniProt

 Q13698 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13698

Antibodypedia

 CACNA1S antibodies

PROTEIN BROWSER
CACNA1S-001
CACNA1S-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CACNA1S-001
ENSP00000355192
ENST00000362061
Q13698 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1S
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Voltage-gated ion channels
   Voltage-Gated Calcium Channels
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
   >9TM proteins predicted by MDM
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:0001501 [skeletal system development]
GO:0002074 [extraocular skeletal muscle development]
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006936 [muscle contraction]
GO:0006941 [striated muscle contraction]
GO:0007029 [endoplasmic reticulum organization]
GO:0007411 [axon guidance]
GO:0007519 [skeletal muscle tissue development]
GO:0007520 [myoblast fusion]
GO:0007528 [neuromuscular junction development]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016529 [sarcoplasmic reticulum]
GO:0030315 [T-tubule]
GO:0031674 [I band]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0043501 [skeletal muscle adaptation]
GO:0046872 [metal ion binding]
GO:0048741 [skeletal muscle fiber development]
GO:0055001 [muscle cell development]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
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 1873 aa
212.3 kDa 		No >9
CACNA1S-002
ENSP00000356307
ENST00000367338
B1ALM3 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1S
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
   >9TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
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
 1854 aa
210.6 kDa 		No >9

Contact

The Project

The Human Protein Atlas

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