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GENE AND PROTEIN SUMMARY

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Gene name

MTM1

Description

myotubularin 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane

Additional location(s)

Cytoplasm 

Staining summary

Mainly localized to the plasma membrane but also to the cytoplasm in two of the cell lines.

Reliability (APE)

Low

Antibodies in assay

HPA010008, HPA010665
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in most tissues at variable levels.

Tissue specificity

Expressed in 62 out of 80 cell types

Reliability (APE)

Low

Antibodies in assay

HPA010008, HPA010665
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 78% of the cancers

Antibodies in assay

HPA010008, HPA010665
 

Tissue

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
 
 
 

Tissue

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
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA010008

HPA010665

HPA010008

HPA010665

A-431 Skin Medium
StrongNegative
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Low
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder Low
U-2 OS Bone Low
ModerateNegative
U-251 MG Brain Medium
ModerateNegative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA010008 pAb
HPA010665 pAb