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MGP000105

UniProt Annotations

Entry Information
Gene Nameadenosylhomocysteinase
Protein EntrySAHH_HUMAN
UniProt IDP23526
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23526-1; Sequence=Displayed; Name=2; IsoId=P23526-2; Sequence=VSP_045404; Note=No experimental confirmation available.;
Catalytic ActivityS-adenosyl-L-homocysteine + H(2)O = L- homocysteine + adenosine.
CofactorName=NAD(+); Xref=ChEBI:CHEBI:57540; Evidence={ECO:0000269|PubMed:12590576, ECO:0000269|PubMed:9586999}; Note=Binds 1 NAD(+) per subunit. {ECO:0000269|PubMed:12590576, ECO:0000269|PubMed:9586999};
DiseaseHypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]: A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. {ECO:0000269|PubMed:15024124, ECO:0000269|PubMed:16736098, ECO:0000269|PubMed:19177456, ECO:0000269|PubMed:20852937}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAdenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. {ECO:0000269|PubMed:12590576}.
PathwayAmino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1.
SimilarityBelongs to the adenosylhomocysteinase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
SubunitHomotetramer. {ECO:0000269|PubMed:12590576, ECO:0000269|PubMed:9586999}.
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