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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in skeletal muscle.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA048892 , HPA056815 , CAB009507
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
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
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



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 78.38)

Entrez gene

779

UniProt

Q13698 (UniProt - Evidence at protein level)

neXtProt

NX_Q13698

Antibodypedia

CACNA1S antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000362061
 
ENST00000367338
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNA1S-001 ENSP00000355192
ENST00000362061
Q13698
Show all »
Show » Show » 1873 212.3 No >9
CACNA1S-002 ENSP00000356307
ENST00000367338
B1ALM3
Show all »
Show » Show » 1854 210.6 No >9