AHCY (adenosylhomocysteinase)

2008-12-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
SAHH,adoHcyase
FUSION GENES

Other Information

Locus ID:

NCBI: 191
MIM: 180960
HGNC: 343
Ensembl: ENSG00000101444

Variants:

dbSNP: 191
ClinVar: 191
TCGA: ENSG00000101444
COSMIC: AHCY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101444ENST00000217426P23526
ENSG00000101444ENST00000217426A0A384MTQ3
ENSG00000101444ENST00000538132P23526

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Methionine degradationKEGGhsa_M00035
Methionine degradationKEGGM00035
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
MethylationREACTOMER-HSA-156581
Selenoamino acid metabolismREACTOMER-HSA-2408522
Metabolism of ingested SeMet, Sec, MeSec into H2SeREACTOMER-HSA-2408508

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
266874452015H19 lncRNA alters DNA methylation genome wide by regulating S-adenosylhomocysteine hydrolase.59
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
125905762003Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions.25
176884122007Homocysteine-mediated expression of SAHH, DNMTs, MBD2, and DNA hypomethylation potential pathogenic mechanism in VSMCs.25
196836942009Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.23
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
186356822008Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.20
187138392008S-adenosylhomocysteine hydrolase downregulation contributes to tumorigenesis.20
190486312009Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.20

Citation

Dessen P

AHCY (adenosylhomocysteinase)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50513/ahcy