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GENE AND PROTEIN SUMMARY

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Gene name

MYOT

Description

myotilin

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No staining was observed in any of the three cell lines.

Reliability (Single)

Antibodies in assay

HPA037733
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Skeletal myocytes showed strong cytoplasmic staining. Remaining normal tissues along with stroma were weakly stained or negative.

Tissue specificity

Staining in 33 out of 81 cell types

Reliability (Single)

Antibodies in assay

HPA037733
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 1% of the cancers

Antibodies in assay

HPA037733
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA037733

A-431 Skin Low

-

Negative
A-549 Lung Not detected

-

CACO-2 Colon Not detected

-

HEK 293 Embryonal kidney Not detected

-

HeLa Cervix Low

-

Hep-G2 Liver Not detected

-

MCF-7 Pleural effusion Not detected

-

PC-3 Bone marrow Not detected

-

RT-4 Urinary bladder Low

-

U-2 OS Bone Low

-

Negative
U-251 MG Brain Low

-

Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA037733 pAb