CASQ1

GENERAL INFORMATION

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Gene name

CASQ1

Gene description

Calsequestrin 1 (fast-twitch, skeletal muscle)

Protein class

Mitochondrial proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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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

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA007845 , HPA026823 , CAB015170
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
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

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Organ

Expression



RNA EXPRESSION OVERVIEW

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

Organ

Expression

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

Organ

Expression



GENE INFORMATION

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Gene name

CASQ1 (HGNC Symbol)

Synonyms

CASQ, PDIB1

Description

Calsequestrin 1 (fast-twitch, skeletal muscle) (HGNC Symbol)

Entrez gene summary

This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]

Chromosome

1

Cytoband

q23.2

Chromosome location (bp)

160190556 - 160201886

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143318 (version 78.38)

Entrez gene

844

UniProt

P31415 (UniProt - Evidence at protein level)

neXtProt

NX_P31415

Antibodypedia

CASQ1 antibodies


PROTEIN BROWSER

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ENST00000368078
 
ENST00000467691
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASQ1-001 ENSP00000357057
ENST00000368078
P31415
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Show » Show » 396 45.2 Yes 0
CASQ1-003 ENSP00000418051
ENST00000467691
C9JAC8
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Show » Show » 117 13.3 No 0