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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
  • AdoHcyase 3 4
  • SAHH 3 4
  • EC 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 S-Adenosylhomocysteine Hydrolase Deficiency and Hypermethioninemia. Among its related pathways are Metabolism and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include identical protein binding and adenyl nucleotide binding. An important paralog of this gene is AHCYL2.

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.

Additional gene information for AHCY Gene

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

GeneHancer (GH) Regulatory Elements for AHCY Gene

Promoters and enhancers for AHCY Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J034300 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 654.6 +9.7 9730 3.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC AHCY TRPC4AP CDK5RAP1 NCOA6 ENSG00000228386 ENSG00000229188 BPIFB5P RPS2P1 ZNF341-AS1 CBFA2T2
GH20J034309 Promoter/Enhancer 1.6 Ensembl ENCODE 650.7 +0.5 453 3.4 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 AHCY TRPC4AP RALY EDEM2 ENSG00000272945
GH20J033991 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.7 +317.9 317929 4.5 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 RALY RALY-AS1 ENSG00000228386 ENSG00000229188 BPIFB5P BPIFA3 ENSG00000224876 RPL12P3 SUN5 RPS2P1
GH20J033684 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.8 +626.1 626076 2.9 HDGF SMAD1 ARNT MLX ARID4B SIN3A DMAP1 SLC30A9 E2F8 ZNF143 E2F1 ZNF341-AS1 BAK1P1 ENSG00000229188 ENSG00000228386 BPIFB5P RPL12P3 BPIFA3 ENSG00000224876 SUN5
GH20J034313 Enhancer 1.1 Ensembl ENCODE 5.5 -3.4 -3377 3.7 ARID4B NEUROD1 RAD21 DNMT3B RARA ETS1 SLC30A9 FOS EGR2 SMARCC1 MAP1LC3A MMP24OS AHCY GGT7 ENSG00000234087
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AHCY on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AHCY gene promoter:

Genomic Locations for AHCY Gene

Genomic Locations for AHCY Gene
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

Post-translational modifications for AHCY Gene

  • Ubiquitination at posLast=412412, posLast=226226, posLast=188188, posLast=166166, Lys20, and Lys8
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AHCY Gene

Domains & Families for AHCY Gene

Gene Families for AHCY Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosine.
GENATLAS Biochemistry:
S-adenosyl-homocysteine hydrolase,sulfur aminoacid metabolism,transmethylation pathway

Enzyme Numbers (IUBMB) for AHCY Gene

Phenotypes From GWAS Catalog 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 Ahcy<tm1b(EUCOMM)Hmgu>

Animal Model 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

Subcellular locations from the

Human Protein Atlas (HPA)

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,IBA --
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

(26) 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, Investigational Pharma Target 0
Copper Approved, Investigational Pharma Target, allosteric modulator 202
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 551
Water Approved Pharma 0
D-Eritadenine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-amino-4-Mercaptobutyric acid
  • Hcy
  • 2-amino-4-Mercaptobutyrate
  • (+-)-Homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
  • 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:

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, 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

  • Liver(4.9)
  • Nervous system(4.9)
  • 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

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 33
  • 99.69 (n)
(Mus musculus)
Mammalia Gm4737 34
  • 97 (a)
Ahcy 16 34 33
  • 91.2 (n)
(Bos Taurus)
Mammalia AHCY 34 33
  • 92.44 (n)
(Monodelphis domestica)
Mammalia AHCY 34
  • 92 (a)
(Rattus norvegicus)
Mammalia Ahcy 33
  • 91.36 (n)
(Canis familiaris)
Mammalia AHCY 34 33
  • 86.88 (n)
(Ornithorhynchus anatinus)
Mammalia AHCY 34
  • 84 (a)
(Gallus gallus)
Aves AHCY 34 33
  • 80.86 (n)
(Anolis carolinensis)
Reptilia AHCY 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcy 33
  • 78.24 (n)
Str.6107 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.937 33
(Danio rerio)
Actinopterygii ahcy 34 33 33
  • 78.86 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8276 33
fruit fly
(Drosophila melanogaster)
Insecta Ahcy13 34 35 33
  • 76.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta SAHH_ANOGA 33
  • 75.6 (n)
(Caenorhabditis elegans)
Secernentea dpy-14 35
  • 76 (a)
ahcy-1 34 33
  • 70.01 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR243C 33
  • 69.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 36 34 33
  • 64.87 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01199g 33
  • 64.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE58 33
  • 62.36 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.757 33
(Oryza sativa)
Liliopsida Os11g0455500 33
  • 66.28 (n)
Os.8240 33
(Triticum aestivum)
Liliopsida Ta.1258 33
(Hordeum vulgare)
Liliopsida Hv.3364 33
(Zea mays)
Liliopsida Zm.10189 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07930 33
  • 71.99 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.18c 33
  • 68.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
Cin.5073 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5073 33
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)
Evolutionary constrained regions (ECRs) for AHCY: view image

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 Variation AA Info Type
rs121918607 pathogenic, Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 34,292,467(-) C/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs121918608 pathogenic, likely-pathogenic, Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency, not provided, Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] 34,292,375(-) T/C coding_sequence_variant, missense_variant
rs13043752 benign, Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 34,295,502(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs13245 likely-benign, Hypermethioninemia 34,280,733(-) A/C/G 3_prime_UTR_variant, intron_variant
rs146829385 uncertain-significance, Hypermethioninemia 34,290,386(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant

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)

Additional Variant Information for AHCY Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AHCY Gene

MalaCards: The human disease database

(8) MalaCards diseases for AHCY Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
  • hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
  • mat deficiency
endometrial cancer
  • endometrial cancer, familial
adenosine deaminase deficiency
  • severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
skin/hair/eye pigmentation, variation in, 9
  • shep9
- 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.

Additional Disease Information for AHCY

Genetic Association Database
Human Genome Epidemiology 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 HJ (European journal of human genetics : EJHG 2004) 3 4 22 44 58
  2. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. (PMID: 15024124) Baric I … Mudd SH (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  3. Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions. (PMID: 12590576) Yang X … Schowen RL (Biochemistry 2003) 3 4 22 58
  4. Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure. (PMID: 7786017) Gupta RA … Borchardt RT (Archives of biochemistry and biophysics 1995) 3 4 22 58
  5. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PMID: 20392501) Gass N … Paunio T (Journal of affective disorders 2010) 3 44 58

Products for AHCY Gene

Sources for AHCY Gene