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UniProt functional annotation for P23526 | ||
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| UniProt code: P23526. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Adenosylhomocysteine 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}. |
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| Catalytic activity: | |
Reaction=H2O + S-adenosyl-L-homocysteine = adenosine + L-homocysteine; Xref=Rhea:RHEA:21708, ChEBI:CHEBI:15377, ChEBI:CHEBI:16335, ChEBI:CHEBI:57856, ChEBI:CHEBI:58199; EC=3.3.1.1; |
| Cofactor: | |
Name=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}; |
| Pathway: | |
Amino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1. |
| Subunit: | |
Homotetramer. {ECO:0000269|PubMed:12590576, ECO:0000269|PubMed:9586999}. |
| Subcellular location: | |
Cytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. |
| Disease: | |
Hypermethioninemia 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 variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the adenosylhomocysteinase family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.