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MGP000139

UniProt Annotations

Entry Information
Gene Nameadenosine monophosphate deaminase 3
Protein EntryAMPD3_HUMAN
UniProt IDQ01432
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1B; IsoId=Q01432-1; Sequence=Displayed; Name=1A; IsoId=Q01432-2; Sequence=VSP_001275, VSP_001277; Name=1C; IsoId=Q01432-3; Sequence=VSP_001276, VSP_001278; Name=2; IsoId=Q01432-4; Sequence=VSP_001275; Name=3; IsoId=Q01432-5; Sequence=VSP_001276; Name=4; IsoId=Q01432-6; Sequence=VSP_044230;
Catalytic ActivityAMP + H(2)O = IMP + NH(3).
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 1 zinc ion per subunit. {ECO:0000250};
DiseaseAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269|PubMed:11139257, ECO:0000269|PubMed:7881427, ECO:0000269|PubMed:8004104, ECO:0000269|PubMed:9598089}. 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.
SimilarityBelongs to the adenosine and AMP deaminases family. {ECO:0000305}.
SubunitHomotetramer.
Tissue SpecificityIsoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes.
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