Gene Gene information from NCBI Gene database.
Entrez ID 191
Gene name Adenosylhomocysteinase
Gene symbol AHCY
Synonyms (NCBI Gene)
SAHHadoHcyase
Chromosome 20
Chromosome location 20q11.22
Summary S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocystei
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs11552695 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, 5 prime UTR variant
rs121918607 C>T Pathogenic Stop gained, coding sequence variant, 5 prime UTR variant
rs121918608 T>C Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs755222515 G>A Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant, 5 prime UTR variant
rs757357954 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
344
miRTarBase ID miRNA Experiments Reference
MIRT724958 hsa-miR-3914 HITS-CLIP 19536157
MIRT724957 hsa-miR-29b-1-5p HITS-CLIP 19536157
MIRT724956 hsa-miR-5681a HITS-CLIP 19536157
MIRT724955 hsa-miR-6730-5p HITS-CLIP 19536157
MIRT724954 hsa-miR-340-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004013 Function Adenosylhomocysteinase activity IBA
GO:0004013 Function Adenosylhomocysteinase activity IDA 10933798
GO:0004013 Function Adenosylhomocysteinase activity IEA
GO:0004013 Function Adenosylhomocysteinase activity TAS 2596825
GO:0005515 Function Protein binding IPI 25416956, 25910212, 28514442, 31515488, 32296183, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180960 343 ENSG00000101444
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23526
Protein name Adenosylhomocysteinase (AdoHcyase) (EC 3.13.2.1) (S-adenosyl-L-homocysteine hydrolase)
Protein function Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity).
PDB 1A7A , 1LI4 , 3NJ4 , 4PFJ , 4PGF , 4YVF , 5W49 , 5W4B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05221 AdoHcyase 6 142 S-adenosyl-L-homocysteine hydrolase Domain
PF05221 AdoHcyase 140 431 S-adenosyl-L-homocysteine hydrolase Domain
PF00670 AdoHcyase_NAD 191 352 S-adenosyl-L-homocysteine hydrolase, NAD binding domain Domain
Sequence
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
  Methylation
Sulfur amino acid metabolism
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
257
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Pathogenic; Likely pathogenic rs2515172714, rs757966746, rs2036548764, rs121918607, rs121918608, rs2515204321, rs2515176184, rs772729103, rs2515180222, rs773162208, rs369428934 RCV002829264
RCV005025372
RCV003335928
RCV000013818
RCV000013819
RCV003494579
RCV003494580
RCV003638512
RCV003639217
RCV000778630
RCV001813819
Rhabdomyolysis Likely pathogenic; Pathogenic rs121918608 RCV000662292
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AHCY-related disorder Likely benign; Conflicting classifications of pathogenicity rs372649332, rs41301825, rs116846245 RCV003914067
RCV003918056
RCV003955940
Familial cancer of breast Conflicting classifications of pathogenicity rs757357954 RCV005898002
Hypermethioninemia Uncertain significance; Benign rs886056636, rs886056637, rs819146 RCV000358309
RCV000283737
RCV000348058
See cases Uncertain significance rs142847412 RCV002252431
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 20871623
Aortic Dissection Associate 20871623
Brain Ischemia Associate 32020847
Breast Neoplasms Associate 18084325, 36361596
Carcinoma Hepatocellular Associate 26527160, 28459194, 31959915
Carcinoma Pancreatic Ductal Associate 33753854
Cerebral Infarction Associate 32020847, 33138824
Colorectal Neoplasms Associate 23341073
Dissection Thoracic Aorta Associate 20871623
Hypermethioninemia Associate 26527160