Entity Details

Primary name AMPD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP23109
EntryNameAMPD1_HUMAN
FullNameAMP deaminase 1
TaxID9606
Evidenceevidence at protein level
Length780
SequenceStatuscomplete
DateCreated1991-11-01
DateModified2021-06-02

Ontological Relatives

GenesAMPD1

GO terms

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GOName
GO:0003876 AMP deaminase activity
GO:0005829 cytosol
GO:0006188 IMP biosynthetic process
GO:0010033 response to organic substance
GO:0032036 myosin heavy chain binding
GO:0032264 IMP salvage
GO:0042802 identical protein binding
GO:0043101 purine-containing compound salvage
GO:0046033 AMP metabolic process
GO:0046872 metal ion binding

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
IPR029770 AMP deaminase 1FamilyFamily
IPR032466 Metal-dependent hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615511 OMIMMyopathy due to myoadenylate deaminase deficiency (MMDD)A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00131 Adenosine phosphateDrugbanksmall molecule

Interactions

5 interactions