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MGP000072

UniProt Annotations

Entry Information
Gene Nameadenosine kinase
Protein EntryADK_HUMAN
UniProt IDP55263
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P55263-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P55263-2; Sequence=VSP_046713; Name=3; IsoId=P55263-3; Sequence=VSP_043526; Name=4; IsoId=P55263-4; Sequence=VSP_004668; Note=No experimental confirmation available.;
Catalytic ActivityATP + adenosine = ADP + AMP.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 3 Mg(2+) ions per subunit.;
DiseaseHypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]: A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S- adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. {ECO:0000269|PubMed:21963049}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.
PathwayPurine metabolism; AMP biosynthesis via salvage pathway; AMP from adenosine: step 1/1.
Sequence CautionSequence=AAB01689.1; Type=Frameshift; Positions=17; Evidence={ECO:0000305};
SimilarityBelongs to the carbohydrate kinase PfkB family. {ECO:0000305}.
Subcellular LocationIsoform 1: Nucleus.
Subcellular LocationIsoform 2: Cytoplasm.
SubunitMonomer.
Tissue SpecificityWidely expressed. Highest level in placenta, liver, muscle and kidney.
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