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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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CASQ1
  • premium

    TISSUE

  • CELL

  • PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

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 category

TCGA (cancer tissue):Mixed
HPA (cell line):Group enriched (BEWO, HDLM-2, RT4)
HPA (normal tissue):Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Selective cytoplasmic expression in skeletal muscle.

ANTIBODY IHC 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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PROGNOSTIC SUMMARY

Prognostic marker in urothelial cancer (favourable).
Urothelial 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
Liver cancer

STAINING SUMMARY

HPA007845
HPA026823
CAB015170

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Most malignancies were weakly stained or negative. Several thyroid cancers showed strong cytoplasmic staining.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Colorectal cancers showed weak to moderate cytoplasmic staining. Remaining malignant cells were generally negative.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Malignant tissues were generally negative.

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)
Show all
GO:0005509 [calcium ion binding]
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117 aa
13.3 kDa
No 0

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