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Aliases for AHCY Gene

Aliases for AHCY Gene

  • Adenosylhomocysteinase 2 3 5
  • S-Adenosyl-L-Homocysteine Hydrolase 3 4
  • S-Adenosylhomocysteine Hydrolase 2 3
  • EC 3.3.1.1 4 63
  • 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 psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency. Among its related pathways are Metabolism and Phase II conjugation. 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.

No data available for 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

Promoters for AHCY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AHCY on UCSC Golden Path with GeneCards custom track

Genomic Location for AHCY Gene

Chromosome:
20
Start:
34,234,840 bp from pter
End:
34,311,976 bp from pter
Size:
77,137 bases
Orientation:
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:
    P23526-SAHH_HUMAN
    Recommended name:
    Adenosylhomocysteinase
    Protein Accession:
    P23526
    Secondary Accessions:
    • A8K307
    • B3KUN3
    • E1P5P2
    • F5H737
    • Q96A36

    Protein attributes for AHCY Gene

    Size:
    432 amino acids
    Molecular mass:
    47716 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for AHCY Gene

Proteomics data for AHCY Gene at MOPED

Post-translational modifications for AHCY Gene

  • Ubiquitination at Lys 8, Lys 20, Lys 166, Lys 188, Lys 226, and Lys 412
  • Modification sites at PhosphoSitePlus

Other Protein References for AHCY Gene

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

P23526

UniProtKB/Swiss-Prot:

SAHH_HUMAN :
  • Belongs to the adenosylhomocysteinase family.
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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for AHCY Gene COMPARTMENTS Subcellular localization image for AHCY gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
mitochondrion 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AHCY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042470 melanosome 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:0006805 xenobiotic metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
Adenosine Approved, Investigational Pharma Agonist 363
s-adenosylhomocysteine Experimental Pharma 0
(1'r,2's)-9-(2-Hydroxy-3'-Keto-Cyclopenten-1-Yl)Adenine Experimental Pharma Target 0
3'-Oxo-Adenosine Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
homocysteine
  • (+-)-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
454-29-5
D-erythro-Eritadenine
  • 4-(6-Amino-9H-purin-9-yl)-4-deoxy-D-Erythronic acid
  • 6-Amino-alpha,beta-dihydroxy-9H-purine-9-butanoic acid
  • D-4-(6-Amino-9H-purin-9-yl)-4-deoxyerythronic acid
  • D-Eritadenine
  • D-Erythro-form
23918-98-1
Isopropyl alcohol
  • 2-Propanol
  • 2-Propyl alcohol
  • Alcojel
  • Alkolave
  • Avantin
67-63-0
Se-Adenosylselenohomocysteine
Selenohomocysteine
  • 2-Amino-4-selanyl-butanoate
  • 2-Amino-4-selanyl-butanoic acid
  • Se-selenocysteine
29412-93-9
genes like me logo Genes that share compounds with AHCY: view

Transcripts for AHCY Gene

Unigene Clusters for AHCY Gene

Adenosylhomocysteinase:
Representative Sequences:

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: - -
SP5:
SP6: - - -
SP7: - -
SP8: -

Relevant External Links for AHCY Gene

GeneLoc Exon Structure for
AHCY
ECgene alternative splicing isoforms for
AHCY

Expression for AHCY Gene

mRNA expression in normal human tissues for AHCY Gene

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



SOURCE GeneReport for Unigene cluster for AHCY Gene Hs.388004

genes like me logo Genes that share expression patterns with AHCY: view

Protein tissue co-expression partners for AHCY Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia AHCY 35
  • 92.44 (n)
  • 96.53 (a)
AHCY 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHCY 35
  • 86.88 (n)
  • 92.59 (a)
AHCY 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahcy 35
  • 91.2 (n)
  • 96.99 (a)
Ahcy 16
Ahcy 36
  • 97 (a)
OneToMany
Gm4737 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia AHCY 35
  • 99.69 (n)
  • 100 (a)
AHCY 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahcy 35
  • 91.36 (n)
  • 96.53 (a)
oppossum
(Monodelphis domestica)
Mammalia AHCY 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHCY 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHCY 35
  • 80.86 (n)
  • 91.09 (a)
AHCY 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHCY 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcy 35
  • 78.24 (n)
  • 88.19 (a)
Str.6107 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.937 35
zebrafish
(Danio rerio)
Actinopterygii ahcy 35
  • 78.86 (n)
  • 86.34 (a)
ahcy 36
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8276 35
fruit fly
(Drosophila melanogaster)
Insecta Ahcy13 37
  • 80 (a)
Ahcy13 35
  • 76.07 (n)
  • 81.12 (a)
Ahcy13 36
  • 81 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta SAHH_ANOGA 35
  • 75.6 (n)
  • 79.25 (a)
worm
(Caenorhabditis elegans)
Secernentea dpy-14 37
  • 76 (a)
ahcy-1 35
  • 70.01 (n)
  • 77.62 (a)
ahcy-1 36
  • 76 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR243C 35
  • 69.95 (n)
  • 73.94 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01199g 35
  • 64.79 (n)
  • 74.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 35
  • 64.87 (n)
  • 73.71 (a)
SAH1 36
  • 70 (a)
OneToMany
SAH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE58 35
  • 62.36 (n)
  • 62.44 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.757 35
barley
(Hordeum vulgare)
Liliopsida Hv.3364 35
rice
(Oryza sativa)
Liliopsida Os.8240 35
Os11g0455500 35
  • 66.28 (n)
  • 62.68 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1258 35
corn
(Zea mays)
Liliopsida Zm.10189 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5073 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07930 35
  • 71.99 (n)
  • 73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.18c 35
  • 68.54 (n)
  • 77.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
ManyToMany
Species with no ortholog for AHCY:
  • 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

ENSEMBL:
Gene Tree for AHCY (if available)
TreeFam:
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
VAR_006934 -
rs13043752 - 34,295,502(+) GTACC(A/G)CTCCC reference, missense
VAR_058588 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
VAR_058589 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
VAR_058590 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)

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

Variant ID Type Subtype PubMed ID
nsv3358 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
AHCY
Human Gene Mutation Database (HGMD)
AHCY

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

Disorders for AHCY Gene

MalaCards: The human disease database

(6) 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
psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency
  • hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency
hypermethioninemia
  • glycine n-methyltransferase deficiency
adenosine deaminase deficiency
  • severe combined immunodeficiency due to ada deficiency
hyperhomocysteinemia
- elite association - COSMIC cancer census association via MalaCards
Search AHCY in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SAHH_HUMAN
  • 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)
AHCY
Human Genome Epidemiology (HuGE) Navigator
AHCY
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHCY
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 23 48 67
  2. Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization. (PMID: 19619139) Feng Q. … Weinshilboum R.M. (J. Neurochem. 2009) 3 23
  3. S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues. (PMID: 18211827) BeluziA8 R. … Vugrek O. (Biochem. Biophys. Res. Commun. 2008) 3 23
  4. Comparative kinetics of cofactor association and dissociation for the human and trypanosomal S-adenosylhomocysteine hydrolases. 2. The role of helix 18 stability. (PMID: 18393535) Li Q.S. … Schowen R.L. (Biochemistry 2008) 3 23
  5. Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia. (PMID: 18522500) Hsu J.F. … Huang W. (J. Infect. Dis. 2008) 3 23

Products for AHCY Gene

Sources for AHCY Gene

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