Entity Details

Primary name AMPD3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ01432
EntryNameAMPD3_HUMAN
FullNameAMP deaminase 3
TaxID9606
Evidenceevidence at protein level
Length767
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesAMPD3

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001365 Adenosine/AMP deaminase domainDomainDomain
IPR006329 AMP deaminaseFamilyFamily
IPR006650 Adenosine/AMP deaminase active siteSiteActive site
IPR029771 AMP deaminase 3FamilyFamily
IPR032466 Metal-dependent hydrolaseFamilyHomologous superfamily

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

3 interactions

InteractorPartnerSourcesPublicationsLink
AMPD3_HUMANAMPD1_HUMANBioGRID, IntAct32296183 details
AMPD3_HUMANKCIP1_HUMANBioGRID, IntAct32296183 details
AMPD3_HUMANHS90B_HUMANIntAct25910212 details