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Aliases for AHCY Gene

Aliases for AHCY Gene

  • Adenosylhomocysteinase 2 3
  • SAHH 3 4 6
  • S-Adenosyl-L-Homocysteine Hydrolase 3 4
  • S-Adenosylhomocysteine Hydrolase 2 3
  • EC 3.3.1.1 4 64
  • AdoHcyase 3 4

External Ids for AHCY Gene

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 and psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include adenosylhomocysteinase activity. 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

Genomic Location for AHCY Gene

Start:
34,280,265 bp from pter
End:
34,311,802 bp from pter
Size:
31,538 bases
Orientation:
Minus strand

Genomic View for AHCY Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AHCY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHCY Gene

Regulatory Elements 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; Note=Binds 1 NAD(+) per subunit.;
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys8, Lys20, Lys166, Lys188, Lys226, and Lys412

Other Protein References for AHCY Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AHCY Gene

Gene Families for AHCY Gene

UniProtKB/Swiss-Prot:

SAHH_HUMAN
Family:
  • Belongs to the adenosylhomocysteinase family.:
    • P23526
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:0004455 ketol-acid reductoisomerase activity --
GO:0005515 protein binding IPI 25416956
GO:0030554 adenyl nucleotide binding --
GO:0042802 identical protein binding --
genes like me logo Genes that share ontologies with AHCY: view

Phenotypes for AHCY Gene

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

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 4
plasma membrane 2
chloroplast 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AHCY Gene

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

Pathways for AHCY Gene

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

Pathways by source for AHCY Gene

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 --
GO:0002439 chronic inflammatory response to antigenic stimulus --
GO:0006730 one-carbon metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with AHCY: view

Compounds for AHCY Gene

(8) HMDB Compounds for AHCY Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
58-61-7
Homocysteine
  • (+-)-homocysteine
454-29-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
S-Adenosylhomocysteine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
979-92-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0

(4) Drugbank Compounds for AHCY Gene

(1) IUPHAR Ligand for AHCY Gene

Ligand Type Action Affinity Pubmed IDs
3-deazaadenosine Inhibitor Inhibition 8.5

(38) Novoseek inferred chemical compound relationships for AHCY Gene

Compound -log(P) Hits PubMed IDs
s-adenosylhomocysteine 98.1 151
neplanocin a 95 8
3-deazaadenosine 91.9 7
aristeromycin 89.6 5
s-adenosylmethionine 82.4 12
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with AHCY: view

Orthologs for AHCY Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AHCY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHCY 36
  • 99.69 (n)
  • 100 (a)
AHCY 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AHCY 36
  • 92.44 (n)
  • 96.53 (a)
AHCY 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHCY 36
  • 86.88 (n)
  • 92.59 (a)
AHCY 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahcy 36
  • 91.2 (n)
  • 96.99 (a)
Ahcy 16
Ahcy 37
  • 97 (a)
OneToMany
Gm4737 37
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia AHCY 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHCY 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahcy 36
  • 91.36 (n)
  • 96.53 (a)
chicken
(Gallus gallus)
Aves AHCY 36
  • 80.86 (n)
  • 91.09 (a)
AHCY 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHCY 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.937 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ahcy 36
  • 78.24 (n)
  • 88.19 (a)
Str.6107 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8276 36
zebrafish
(Danio rerio)
Actinopterygii ahcy 36
  • 78.86 (n)
  • 86.34 (a)
ahcy 37
  • 86 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta SAHH_ANOGA 36
  • 75.6 (n)
  • 79.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ahcy13 36
  • 76.07 (n)
  • 81.12 (a)
Ahcy13 37
  • 81 (a)
ManyToMany
Ahcy13 38
  • 80 (a)
worm
(Caenorhabditis elegans)
Secernentea ahcy-1 36
  • 70.01 (n)
  • 77.62 (a)
ahcy-1 37
  • 76 (a)
OneToMany
dpy-14 38
  • 76 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR243C 36
  • 69.95 (n)
  • 73.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAH1 36
  • 64.87 (n)
  • 73.71 (a)
SAH1 37
  • 70 (a)
OneToMany
SAH1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01199g 36
  • 64.79 (n)
  • 74.18 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.757 36
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE58 36
  • 62.36 (n)
  • 62.44 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3364 36
corn
(Zea mays)
Liliopsida Zm.10189 36
rice
(Oryza sativa)
Liliopsida Os.8240 36
Os11g0455500 36
  • 66.28 (n)
  • 62.68 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1258 36
bread mold
(Neurospora crassa)
Ascomycetes NCU07930 36
  • 71.99 (n)
  • 73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC8D2.18c 36
  • 68.54 (n)
  • 77.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5073 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs4239 -- 34,280,355(-) CTTTC(A/T)CAACC utr-variant-3-prime
rs12506 -- 34,280,448(-) SAGAA(G/T)TGACA utr-variant-3-prime
rs13245 -- 34,280,733(-) GTCAG(G/T)AGTGG utr-variant-3-prime
rs14941 -- 34,280,417(-) AGAAA(A/C)ACATG utr-variant-3-prime
rs819132 -- 34,281,730(+) gtggc(A/G)cgatc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3358 CNV Loss 18451855

Relevant External Links for AHCY Gene

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

Disorders for AHCY Gene

(1) OMIM Diseases for AHCY Gene (180960)

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.

(10) Novoseek inferred disease relationships for AHCY Gene

Disease -log(P) Hits PubMed IDs
hypermethioninemia 86.4 1
hyperhomocysteinemia 65.3 1
parainfluenza 26.2 2
severe combined immunodeficiency 21.5 1
leukemia 19.6 1

Relevant External Links for AHCY

Genetic Association Database (GAD)
AHCY
Human Genome Epidemiology (HuGE) Navigator
AHCY
genes like me logo Genes that share disorders with AHCY: view

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 49
  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 23
  3. 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 23
  4. 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 23
  5. Substrate binding stabilizes S-adenosylhomocysteine hydrolase in a closed conformation. (PMID: 10933798) Yin D. … Squier T.C. (Biochemistry 2000) 3 23

Products for AHCY Gene

  • Addgene plasmids for AHCY

Sources for AHCY Gene

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