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FLASH GENE
Symbol AHCY contributors: mct - updated : 13-04-2004
HGNC name S-adenosylhomocysteine hydrolase
HGNC id 343
Corresponding disease
AHCYD S-adenosylhomocysteine hydrolase deficiency
Location 20q11.22      Physical location : 32.868.072 - 32.899.608
Synonym name adenosylhomocysteinase
Synonym symbol(s) SAHH
EC.number 3.3.1.1
DNA
TYPE functioning gene
STRUCTURE 23.00 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 salivary gland   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 male systemprostate   
Respiratorylung    
Skin/Tegumentskin   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text pancreas
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
S-adenosyl-L-homocysteine hydrolase, NAD binding domain
mono polymer homomer , tetramer
HOMOLOGY
interspecies ortholog to murine Ahcy
Homologene
FAMILY S-adenosyl-homocysteine hydrolase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
basic FUNCTION
  • reversible hydrolysis of D-adenosyl-homocysteine to adenosine and l-homocysteine
  • play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine
  • regulates the intracellular S-adenosylhomocysteine concentration thought to be important for transmethylation reactions (Giusti 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    sulfur aminoacid
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    NAD
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AHCYD
    Susceptibility to abdominal aortic aneurysm (Giusti 2008)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS