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GENE AND PROTEIN SUMMARY

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Gene name

AMPD1

Description

adenosine monophosphate deaminase 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potentially secreted proteins

Protein evidence

High

Entrez gene summary

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
0 with predicted TM region
2 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Mitochondria

Additional location(s)

 

Staining summary

Staining of mitochondria in U-2 OS.

Reliability (Single)

Antibodies in assay

HPA026478
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in a majority of tissues. High expression in skeletal muscle.

Tissue specificity

Expressed in 48 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA026478, HPA028080
 

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 13
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 47% of the cancers

Antibodies in assay

HPA026478, HPA028080
 

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

Not detected
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA026478

HPA028080

HPA026478

A-431 Skin Not detected
Negative
A-549 Lung Not detected
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Not detected
HeLa Cervix Not detected
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Not detected
Moderate
U-251 MG Brain Not detected
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA026478 pAb
HPA028080 pAb