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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyolysis Likely pathogenic; Pathogenic rs121918608 RCV000662292
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AHCY-related disorder Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 31539805
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Amino Acid Metabolism, Inborn Errors Disorder of amino acid metabolism CTD_human_DG 15024124
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders Inherited Errors of Amino Acid Metabolism CTD_human_DG 15024124
★☆☆☆☆
Found in Text Mining only
Antithrombin III Deficiency Antithrombin Deficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 20871623 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 18635682
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 20871623 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18591246
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 18591246
★☆☆☆☆
Found in Text Mining only