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CASQ1

GENERAL INFORMATION

Gene name

 CASQ1

Gene description

 Calsequestrin 1 (fast-twitch, skeletal muscle)

Protein class

 Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

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.
HPA007845 , HPA026823 , CAB015170
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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
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

 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 83.38)

Entrez gene

 844

UniProt

 P31415 (UniProt - Evidence at protein level)

neXtProt

 NX_P31415

Antibodypedia

 CASQ1 antibodies

PROTEIN BROWSER
CASQ1-001
CASQ1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CASQ1-001
ENSP00000357057
ENST00000368078
P31415 [Direct mapping]
Calsequestrin-1
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   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005509 [calcium ion binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005783 [endoplasmic reticulum]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0007029 [endoplasmic reticulum organization]
GO:0007519 [skeletal muscle tissue development]
GO:0009408 [response to heat]
GO:0010033 [response to organic substance]
GO:0010880 [regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0014802 [terminal cisterna]
GO:0014804 [terminal cisterna lumen]
GO:0014809 [regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion]
GO:0014870 [response to muscle inactivity]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0016529 [sarcoplasmic reticulum]
GO:0030016 [myofibril]
GO:0030315 [T-tubule]
GO:0031674 [I band]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0033018 [sarcoplasmic reticulum lumen]
GO:0034220 [ion transmembrane transport]
GO:0042383 [sarcolemma]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045214 [sarcomere organization]
GO:0051258 [protein polymerization]
GO:0051282 [regulation of sequestering of calcium ion]
GO:0055085 [transmembrane transport]
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 396 aa
45.2 kDa 		Yes 0
CASQ1-003
ENSP00000418051
ENST00000467691
C9JAC8 [Direct mapping]
Calsequestrin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005509 [calcium ion binding]
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 117 aa
13.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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