Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
191
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosylhomocysteinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AHCY
Synonyms (NCBI Gene) Gene synonyms aliases
SAHH, adoHcyase
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000096 Process Sulfur amino acid metabolic process TAS
GO:0001666 Process Response to hypoxia IEA
GO:0002439 Process Chronic inflammatory response to antigenic stimulus IEA
GO:0004013 Function Adenosylhomocysteinase activity IBA 21873635
GO:0004013 Function Adenosylhomocysteinase activity TAS 2596825
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180960 343 ENSG00000101444
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Antithrombin deficiency Antithrombin III Deficiency rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560
View all (41 more)
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Associations from Text Mining
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