InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AHCY

Summary

InnateDB Protein

IDBP-68067.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AHCY

Protein Name

adenosylhomocysteinase

Synonyms

adoHcyase; SAHH;

Species

Homo sapiens

Ensembl Protein

ENSP00000217426

InnateDB Gene

IDBG-68065 (AHCY)

Protein Structure

UniProt Annotation

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:0000269PubMed:12590576}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17081065}. Melanosome {ECO:0000269PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Disease Associations

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:0000269PubMed:15024124, ECO:0000269PubMed:16736098, ECO:0000269PubMed:19177456, ECO:0000269PubMed:20852937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.

Experimentally validated
Total	59 [view]
Protein-Protein	59 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004013	adenosylhomocysteinase activity
GO:0004455	ketol-acid reductoisomerase activity
GO:0051287	NAD binding

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0006730	one-carbon metabolic process
GO:0006805	xenobiotic metabolic process
GO:0008652	cellular amino acid biosynthetic process
GO:0032259	methylation
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0042470	melanosome
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000043 Adenosylhomocysteinase
IPR006140 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain
IPR013116 Acetohydroxy acid isomeroreductase, catalytic
IPR015878 S-adenosyl-L-homocysteine hydrolase, NAD binding domain

PFAM

PF05221
PF02826
PF07991
PF00670

PRINTS

PIRSF

PIRSF001109

SMART

SM00996
SM00997

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt