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AMPD1

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in in skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA026478 , HPA028080
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

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 83.38)

Entrez gene

 270

UniProt

 P23109 (UniProt - Evidence at protein level)

neXtProt

 NX_P23109

Antibodypedia

 AMPD1 antibodies

PROTEIN BROWSER
AMPD1-001
AMPD1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AMPD1-001
ENSP00000430075
ENST00000520113
P23109 [Direct mapping]
AMP deaminase 1
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003876 [AMP deaminase activity]
GO:0005829 [cytosol]
GO:0006144 [purine nucleobase metabolic process]
GO:0009168 [purine ribonucleoside monophosphate biosynthetic process]
GO:0010033 [response to organic substance]
GO:0019239 [deaminase activity]
GO:0032036 [myosin heavy chain binding]
GO:0032264 [IMP salvage]
GO:0043101 [purine-containing compound salvage]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055086 [nucleobase-containing small molecule metabolic process]
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 780 aa
90.2 kDa 		Yes 0
AMPD1-002
ENSP00000358551
ENST00000369538
P23109 [Direct mapping]
AMP deaminase 1
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003876 [AMP deaminase activity]
GO:0005829 [cytosol]
GO:0006144 [purine nucleobase metabolic process]
GO:0009168 [purine ribonucleoside monophosphate biosynthetic process]
GO:0019239 [deaminase activity]
GO:0032264 [IMP salvage]
GO:0043101 [purine-containing compound salvage]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055086 [nucleobase-containing small molecule metabolic process]
Show all
 776 aa
89.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.