AMP deaminase

Adenosine monophosphate deaminase 1
Identifiers
Symbols	AMPD1 ; MAD; MADA; MMDD
External IDs	OMIM: 102770 MGI: 88015 HomoloGene: 20 ChEMBL: 2869 GeneCards: AMPD1 Gene
EC number	3.5.4.6
Gene ontology Molecular function • AMP deaminase activity • myosin heavy chain binding • metal ion binding Cellular component • cytosol Biological process • purine nucleobase metabolic process • response to organic substance • IMP salvage • purine-containing compound salvage • small molecule metabolic process • nucleobase-containing small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE AMPD1 206121 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	270	229665
Ensembl	ENSG00000116748	ENSMUSG00000070385
UniProt	P23109	Q3V1D3
RefSeq (mRNA)	NM_000036	NM_001033303
RefSeq (protein)	NP_000027	NP_001028475
Location (UCSC)	Chr 1: 114.67 – 114.7 Mb	Chr 3: 103.07 – 103.1 Mb
PubMed search	[1]	[2]

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene.

Adenosine monophosphate deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process.

Function

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 erythrocyte-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.

Function

It is a part of the metabolic process that converts sugar, fat, and protein into cellular energy.

In order to use energy, a cell converts one of the above fuels into adenosine triphosphate (ATP) via the mitochondria. Cellular processes, especially muscles, then convert the ATP into adenosine diphosphate (ADP), freeing the energy to do work.

A new research report shows that the widely-prescribed diabetes medication metformin works on AMP kinase by directly inhibiting AMP deaminase, thereby increasing cellular AMP.

Regulation

It has been shown that in environments with high potassium concentrations, AMP-deaminase is regulated by ATP and ADP through a “K_m-type” mechanism. In low potassium ion concentrations, a mixed “K_m V-type” of the regulation is observed.

Pathology

A deficiency is associated with myoadenylate deaminase deficiency.

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  adenosine monophosphate (AMP)

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  inosine monophosphate (IMP)

External links

• AMP Deaminase at the US National Library of Medicine Medical Subject Headings (MeSH)