Entity Details

Primary name AMPD3
Entity type gene
Source Source Link

Details

PrimaryID272
RefseqGeneNG_012041
SymbolAMPD3
Nameadenosine monophosphate deaminase 3
Chromosome11
Location11p15.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-11-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAMPD3_HUMAN

GO terms

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GOName
GO:0003876 AMP deaminase activity
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0006188 IMP biosynthetic process
GO:0006196 AMP catabolic process
GO:0032264 IMP salvage
GO:0034774 secretory granule lumen
GO:0043101 purine-containing compound salvage
GO:0043312 neutrophil degranulation
GO:0046033 AMP metabolic process
GO:0046872 metal ion binding
GO:1904813 ficolin-1-rich granule lumen

Diseases

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Disease IDSourceNameDescription
612874 OMIMAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
AMPD3AMPD1BioGRID, IntAct32296183 details
AMPD3KCNIP1BioGRID, IntAct32296183 details
AMPD3HSP90AB1IntAct25910212 details
AMPD3ALBBioGRID, IntAct15174051 details
AMPD3HSPA8IntAct25910212 details
AMPD3H2BC9BioGRID, IntAct30021884 details
AMPD3H3-4BioGRID, IntAct30021884 details
AMPD3RAD21BioGRID22145905 details
AMPD3CITBioGRID31586073 details