MGP Database

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MGP000137

UniProt Annotations

Entry Information
Gene Nameadenosine monophosphate deaminase 1
Protein EntryAMPD1_HUMAN
UniProt IDP23109
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23109-1; Sequence=Displayed; Name=2; IsoId=P23109-2; Sequence=VSP_042638;
Catalytic ActivityAMP + H(2)O = IMP + NH(3).
CautionIt is uncertain whether Met-1 or Met-34 is the initiator. {ECO:0000305}.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 1 zinc ion per subunit. {ECO:0000250};
DiseaseMyopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]: A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. {ECO:0000269|PubMed:11102975}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAMP deaminase plays a critical role in energy metabolism.
PathwayPurine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
Sequence CautionSequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84038.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36918.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI18828.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the adenosine and AMP deaminases family. {ECO:0000305}.
SubunitHomotetramer.
Tissue SpecificityThree isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes.
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