AMPD1

GENERAL INFORMATION

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Gene name

AMPD1

Gene description

Adenosine monophosphate deaminase 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in in skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA026478 , HPA028080
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

AMPD1 (HGNC Symbol)

Synonyms

MAD, MADA

Description

Adenosine monophosphate deaminase 1 (HGNC Symbol)

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]

Chromosome

1

Cytoband

p13.2

Chromosome location (bp)

114673098 - 114695618

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116748 (version 78.38)

Entrez gene

270

UniProt

P23109 (UniProt - Evidence at protein level)

neXtProt

NX_P23109

Antibodypedia

AMPD1 antibodies


PROTEIN BROWSER

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ENST00000369538
 
ENST00000520113
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMPD1-001 ENSP00000430075
ENST00000520113
P23109
Show all »
Show » Show » 780 90.2 Yes 0
AMPD1-002 ENSP00000358551
ENST00000369538
P23109
Show all »
Show » Show » 776 89.8 Yes 0