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Aliases for AHCY Gene

Aliases for AHCY Gene

  • Adenosylhomocysteinase 2 3 3 5
  • S-Adenosyl-L-Homocysteine Hydrolase 3 4
  • S-Adenosylhomocysteine Hydrolase 2 3
  • EC 4 61
  • AdoHcyase 3 4
  • SAHH 3 4

External Ids for AHCY Gene

Previous GeneCards Identifiers for AHCY Gene

  • GC20M032626
  • GC20M033491
  • GC20M033583
  • GC20M032331
  • GC20M032868
  • GC20M029649
  • GC20M034280

Summaries for AHCY Gene

Entrez Gene Summary for AHCY 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-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

GeneCards Summary for AHCY Gene

AHCY (Adenosylhomocysteinase) is a Protein Coding gene. Diseases associated with AHCY include Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase and Hypermethioninemia. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Circadian rythm related genes. GO annotations related to this gene include identical protein binding and adenyl nucleotide binding. An important paralog of this gene is AHCYL1.

UniProtKB/Swiss-Prot for AHCY Gene

  • Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHCY Gene

Genomics for AHCY Gene

Regulatory Elements for AHCY Gene

Enhancers for AHCY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G033991 1.4 ENCODE dbSUPER 5.6 +317.9 317929 4.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC NCOA6 ZNF341-AS1 ENSG00000272945 PIGU MAP1LC3A AHCY RALY RALY-AS1
GH20G034313 1.2 Ensembl ENCODE 5.5 -3.4 -3378 3.7 ARID4B ZNF48 SLC30A9 ZNF121 GLIS2 ZNF143 FOS DEK REST ZNF592 MAP1LC3A MMP24-AS1 RALY-AS1 AHCY GGT7 ENSG00000234087
GH20G034300 1.2 ENCODE 4.6 +9.7 9731 3.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TRPC4AP EIF6 AHCY MAP1LC3A ENSG00000250917 ENSG00000272945
GH20G033517 1.2 Ensembl ENCODE dbSUPER 4.6 +793.6 793590 1.2 RNF2 JUN INSM2 KLF17 ZEB2 OSR2 CBX8 PRDM6 BCL11A GLIS1 CBFA2T2 SNTA1 AHCY BPIFB9P GC20P033492 GC20P033491 GC20P033562
GH20G033684 1.1 ENCODE 4.7 +626.1 626076 2.9 HDGF MLX WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS SP3 EIF2S2 CBFA2T2 ZNF341-AS1 AHCY E2F1 ENSG00000271803
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHCY on UCSC Golden Path with GeneCards custom track

Promoters for AHCY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136391 -724 201 MLX ZFP64 ARID4B SIN3A ZNF2 SLC30A9 ZNF143 DEK ZNF263 SP3

Genomic Location for AHCY Gene

34,234,840 bp from pter
34,311,976 bp from pter
77,137 bases
Minus strand

Genomic View for AHCY Gene

Genes around AHCY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHCY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHCY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHCY Gene

Proteins for AHCY Gene

  • Protein details for AHCY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K307
    • B3KUN3
    • E1P5P2
    • F5H737
    • Q96A36

    Protein attributes for AHCY Gene

    432 amino acids
    Molecular mass:
    47716 Da
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for AHCY Gene

    Alternative splice isoforms for AHCY Gene


neXtProt entry for AHCY Gene

Selected DME Specific Peptides for AHCY Gene


Post-translational modifications for AHCY Gene

  • Ubiquitination at posLast=88, Lys20, Lys166, posLast=188188, posLast=226226, and posLast=412412
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for AHCY (Adenosylhomocysteinase/AHCY)

Domains & Families for AHCY Gene

Gene Families for AHCY Gene

Suggested Antigen Peptide Sequences for AHCY Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the adenosylhomocysteinase family.
  • Belongs to the adenosylhomocysteinase family.
genes like me logo Genes that share domains with AHCY: view

Function for AHCY Gene

Molecular function for AHCY Gene

GENATLAS Biochemistry:
S-adenosyl-homocysteine hydrolase,sulfur aminoacid metabolism,transmethylation pathway
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosine.
UniProtKB/Swiss-Prot Function:
Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.

Enzyme Numbers (IUBMB) for AHCY Gene

Gene Ontology (GO) - Molecular Function for AHCY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004013 adenosylhomocysteinase activity TAS 2596825
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0030554 adenyl nucleotide binding IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with AHCY: view
genes like me logo Genes that share phenotypes with AHCY: view

Human Phenotype Ontology for AHCY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AHCY Gene

MGI Knock Outs for AHCY:
  • Ahcy tm1b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for AHCY

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AHCY

No data available for Transcription Factor Targets and HOMER Transcription for AHCY Gene

Localization for AHCY Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHCY Gene

Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHCY gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AHCY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0042470 melanosome IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with AHCY: view

Pathways & Interactions for AHCY Gene

genes like me logo Genes that share pathways with AHCY: view

UniProtKB/Swiss-Prot P23526-SAHH_HUMAN

  • Pathway: Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.

Gene Ontology (GO) - Biological Process for AHCY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0001666 response to hypoxia IEA --
GO:0002439 chronic inflammatory response to antigenic stimulus IEA --
GO:0006730 one-carbon metabolic process IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with AHCY: view

No data available for SIGNOR curated interactions for AHCY Gene

Drugs & Compounds for AHCY Gene

(27) Drugs for AHCY Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma Target 0
S-Adenosylmethionine Approved Nutra 0
Adenosine Approved, Investigational Pharma Agonist 419
Water Approved Pharma 0
D-Eritadenine Experimental Pharma Target 0

(20) Additional Compounds for AHCY Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (+-)-homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (S)-2-amino-4-mercapto-Butanoic acid
  • 2-Amino-4-mercapto-Butanoate
  • 2-Amino-4-mercapto-Butanoic acid
  • 2-Amino-4-selanyl-butanoate
  • 2-Amino-4-selanyl-butanoic acid
  • Se-selenocysteine
genes like me logo Genes that share compounds with AHCY: view

Transcripts for AHCY Gene

Unigene Clusters for AHCY Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AHCY

Alternative Splicing Database (ASD) splice patterns (SP) for AHCY Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - - - -
SP3: -
SP4: - -
SP6: - - -
SP7: - -
SP8: -

Relevant External Links for AHCY Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AHCY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AHCY Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AHCY Gene

Protein tissue co-expression partners for AHCY Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHCY Gene:


SOURCE GeneReport for Unigene cluster for AHCY Gene:


Evidence on tissue expression from TISSUES for AHCY Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Skin(4.8)
  • Blood(4.6)
  • Kidney(4.4)
  • Intestine(3.8)
  • Lung(3.8)
  • Eye(3.4)
  • Heart(2.3)
  • Muscle(2.2)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AHCY Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with AHCY: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AHCY Gene

Orthologs for AHCY Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AHCY Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AHCY 34 35
  • 99.69 (n)
(Mus musculus)
Mammalia Gm4737 35
  • 97 (a)
Ahcy 34 16 35
  • 91.2 (n)
(Bos Taurus)
Mammalia AHCY 34 35
  • 92.44 (n)
(Monodelphis domestica)
Mammalia AHCY 35
  • 92 (a)
(Rattus norvegicus)
Mammalia Ahcy 34
  • 91.36 (n)
(Canis familiaris)
Mammalia AHCY 34 35
  • 86.88 (n)
(Ornithorhynchus anatinus)
Mammalia AHCY 35
  • 84 (a)
(Gallus gallus)
Aves AHCY 34 35
  • 80.86 (n)
(Anolis carolinensis)
Reptilia AHCY 35
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcy 34
  • 78.24 (n)
Str.6107 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.937 34
(Danio rerio)
Actinopterygii ahcy 34 35
  • 78.86 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8276 34
fruit fly
(Drosophila melanogaster)
Insecta Ahcy13 36 34 35
  • 76.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta SAHH_ANOGA 34
  • 75.6 (n)
(Caenorhabditis elegans)
Secernentea dpy-14 36
  • 76 (a)
ahcy-1 34 35
  • 70.01 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR243C 34
  • 69.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 34 35 37
  • 64.87 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01199g 34
  • 64.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE58 34
  • 62.36 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.757 34
(Oryza sativa)
Liliopsida Os11g0455500 34
  • 66.28 (n)
Os.8240 34
(Hordeum vulgare)
Liliopsida Hv.3364 34
(Triticum aestivum)
Liliopsida Ta.1258 34
(Zea mays)
Liliopsida Zm.10189 34
bread mold
(Neurospora crassa)
Ascomycetes NCU07930 34
  • 71.99 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.18c 34
  • 68.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 68 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5073 34
Species where no ortholog for AHCY was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AHCY Gene

Gene Tree for AHCY (if available)
Gene Tree for AHCY (if available)

Paralogs for AHCY Gene

Paralogs for AHCY Gene

(2) SIMAP similar genes for AHCY Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AHCY: view

Variants for AHCY Gene

Sequence variations from dbSNP and Humsavar for AHCY Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121918608 Pathogenic, Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] 34,292,375(-) CAAGT(A/G)CCCGC reference, missense
rs369428934 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] 34,295,469(+) GATGC(A/G)GGCGC reference, missense, utr-variant-5-prime
rs755222515 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] 34,294,110(+) CAGCC(A/G)CCGCA reference, missense, utr-variant-5-prime
rs773162208 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] 34,294,119(+) CATGG(C/T)CCTGG reference, missense, utr-variant-5-prime
rs121918607 Pathogenic 34,292,467(-) CTGTG(A/G)TGCAT reference, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for AHCY Gene

Variant ID Type Subtype PubMed ID
nsv1059756 CNV gain 25217958
nsv1131586 CNV deletion 24896259
nsv3358 CNV deletion 18451855
nsv965872 CNV duplication 23825009

Variation tolerance for AHCY Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHCY Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHCY Gene

Disorders for AHCY Gene

MalaCards: The human disease database

(5) MalaCards diseases for AHCY Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
  • hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
  • glycine n-methyltransferase deficiency
adenosine deaminase deficiency
  • ada
immunodeficiency due to purine nucleoside phosphorylase deficiency
  • purine nucleoside phosphorylase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search AHCY in MalaCards View complete list of genes associated with diseases


  • Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]: A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. {ECO:0000269 PubMed:15024124, ECO:0000269 PubMed:16736098, ECO:0000269 PubMed:19177456, ECO:0000269 PubMed:20852937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AHCY

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AHCY: view

No data available for Genatlas for AHCY Gene

Publications for AHCY Gene

  1. Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis. (PMID: 15241484) Gellekink H. … Blom H.J. (Eur. J. Hum. Genet. 2004) 3 4 22 46 64
  2. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. (PMID: 15024124) Baric I. … Mudd S.H. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  3. Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions. (PMID: 12590576) Yang X. … Schowen R.L. (Biochemistry 2003) 3 4 22 64
  4. Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure. (PMID: 7786017) Gupta R.A. … Borchardt R.T. (Arch. Biochem. Biophys. 1995) 3 4 22 64
  5. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PMID: 20392501) Gass N. … Paunio T. (J Affect Disord 2010) 3 46 64

Products for AHCY Gene

  • Addgene plasmids for AHCY

Sources for AHCY Gene

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