Contents

AMP deaminase

Mammalian protein found in Homo sapiens

AMPD1
Identifiers
Aliases	AMPD1, MAD, MADA, MMDD, adenosine monophosphate deaminase 1, AMP deaminase, AMPD
External IDs	OMIM: 102770; MGI: 88015; HomoloGene: 20; GeneCards: AMPD1; OMA:AMPD1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.2 Start 114,673,090 bp[1] End 114,695,618 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.2|3 45.25 cM Start 102,981,330 bp[2] End 103,007,036 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in triceps brachii muscle vastus lateralis muscle Skeletal muscle tissue of rectus abdominis biceps brachii glutes Skeletal muscle tissue of biceps brachii muscle of thigh thoracic diaphragm deltoid muscle gastrocnemius muscle Top expressed in quadriceps femoris muscle muscle of thigh skeletal muscle tissue zone of skin esophagus lip thymus embryo zygote blastocyst More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hydrolase activity myosin heavy chain binding metal ion binding deaminase activity AMP deaminase activity Cellular component cytosol Biological process response to organic substance IMP salvage nucleotide metabolic process purine-containing compound salvage purine ribonucleoside monophosphate biosynthetic process IMP biosynthetic process AMP metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 270 229665 Ensembl ENSG00000116748 ENSMUSG00000070385 UniProt P23109 Q3V1D3 RefSeq (mRNA) NM_001172626 NM_000036 NM_001033303 RefSeq (protein) NP_000027 NP_001166097 NP_001028475 Location (UCSC) Chr 1: 114.67 – 114.7 Mb Chr 3: 102.98 – 103.01 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene.^[5][6]

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

Function[edit]

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.^[6]

A research report shows that the widely prescribed diabetes medication metformin works on AMP-activated kinase (AMPK) by directly inhibiting AMP deaminase, thereby increasing cellular AMP.^[7]

Regulation[edit]

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.^[8]

Pathology[edit]

AMPD1 deficiency, also known as myoadenylate deaminase deficiency, is a disorder in which the body produces insufficient AMP deaminase.

• 
  adenosine monophosphate (AMP)
• 
  inosine monophosphate (IMP)

References[edit]

Further reading[edit]

External links[edit]

• AMP+Deaminase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human AMPD1 genome location and AMPD1 gene details page in the UCSC Genome Browser.