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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AHCY Gene

protein-coding   GIFtS: 70
GCID: GC20M032868

adenosylhomocysteinase

(Previous name: S-adenosylhomocysteine hydrolase )
 Explore 38 diseases affiliated with
AHCY via our new
 Human Malady Compendium 
Biological research products
for AHCY
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adenosylhomocysteinase1     EC 3.3.1.13 8
SAHH1 2 3 5     AdoHcyase3
S-Adenosylhomocysteine Hydrolase1 2     AdoHcyase3
S-Adenosyl-L-Homocysteine Hydrolase2 3     

External Ids:    HGNC: 3431   Entrez Gene: 1912   Ensembl: ENSG000001014447   OMIM: 1809605   UniProtKB: P235263   

Export aliases for AHCY gene to outside databases

Previous GC identifers: GC20M032626 GC20M033491 GC20M033583 GC20M032331 GC20M029649


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AHCY:
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)

UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AHCY gene promoter:
         GATA-3   AP-4   C/EBPalpha   MEF-2A   POU2F1   POU2F1a   COMP1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHCY promoter sequence
   Search SABiosciences Chromatin IP Primers for AHCY

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHCY


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

AHCY Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHCY gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M032868:  view genomic region     (about GC identifiers)

Start:
32,868,071 bp from pter      End:
32,899,608 bp from pter
Size:
31,538 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526 (See protein sequence)
Recommended Name: Adenosylhomocysteinase  
Size: 432 amino acids; 47716 Da
Cofactor: Binds 1 NAD per subunit
Subunit: Homotetramer
Subcellular location: Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I
to stage IV
3 PDB 3D structures from and Proteopedia for AHCY:
1A7A (3D)        1LI4 (3D)        3NJ4 (3D)    
Secondary accessions: A8K307 B3KUN3 E1P5P2 F5H737 Q96A36
Alternative splicing: 2 isoforms:  P23526-1   P23526-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AHCY: NX_P23526

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23526

  • 4/35 DME Specific Peptides for AHCY (P23526) (see all 35)
     LKVPAIN  CNIGHFD  ITEIDPI  GRLVNLG 

    AHCY Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000678.1  NP_001155238.1  

    ENSEMBL proteins: 
     ENSP00000217426   ENSP00000442820  
    Reactome Protein details: P23526
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for AHCY
    Uscn Proteins for AHCY

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005829cytosol TAS--
    GO:0042470melanosome IEA--


    AHCY for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AHCY for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020082 S-Ado-L-homoCys_hydrolase_CS
     IPR000043 Adenosylhomocysteinase
     IPR015878 Ado_hCys_hydrolase_NAD-bd
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P23526

    ProtoNet protein and cluster: P23526

    1 Blocks protein family: IPB000043 S-adenosyl-L-homocysteine hydrolase

    UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
    Similarity: Belongs to the adenosylhomocysteinase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
    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
    Catalytic activity: S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosine

         Genatlas biochemistry entry for AHCY:
    S-adenosyl-homocysteine hydrolase,sulfur aminoacid metabolism,transmethylation pathway

    Enzyme Number (IUBMB): EC 3.3.1.11 2

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    hsa-miR-26a-2* hsa-miR-3607-3p hsa-miR-1224-3p hsa-miR-548k hsa-miR-765 hsa-miR-144 hsa-miR-3150b-3p hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidAHCY 3' UTR sequence
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004013adenosylhomocysteinase activity TAS--


    AHCY for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for AHCY:
     Decreased influenza A virus in  Synthetic lethal with Ras 

    Animal Models:
         1 MGI phenotypic allele for Ahcy (no phenotypes)

    AHCY for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Methionine metabolism
    Methionine metabolism1.00
    superpathway of methionine degradation0.38
    Methionine metabolism1.00
    methionine degradation I (to homocysteine)0.31
    cysteine biosynthesis III (mammalia)0.44
    Methylation0.19
    2Sulfur amino acid metabolism
    Sulfur amino acid metabolism1.00
    Cysteine and methionine metabolism0.36
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Biological oxidations
    Biological oxidations1.00
    Phase II conjugation0.52
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AHCY
        Methionine metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AHCY
        Aldosterone Signaling in Epithelial Cells

    1 GeneGo (Thomson Reuters) Pathway for AHCY
        Methionine metabolism

    5 BioSystems Pathways for AHCY 
        One Carbon Metabolism
    Folate Metabolism
    methionine degradation I (to homocysteine)
    superpathway of methionine degradation
    cysteine biosynthesis III (mammalia)

    5/6        Reactome Pathways for AHCY (see all 6)
        Metabolism
    Sulfur amino acid metabolism
    Biological oxidations
    Metabolism of amino acids and derivatives
    Phase II conjugation

    1 PharmGKB Pathway for AHCY
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    2         Kegg Pathways  (Kegg details for AHCY):
        Cysteine and methionine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
    Pathway: Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1


    AHCY for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AHCY

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/207 Interacting proteins for AHCY (P235262, 3 ENSP000002174264) via UniProtKB, MINT, STRING, and/or I2D (see all 207)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006730one-carbon metabolic process NAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0032259methylation TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--


    AHCY for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AHCY for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AHCY

    8 HMDB Compounds for AHCY    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Se-Adenosylselenohomocysteine ----
    SelenohomocysteineSe-selenocysteine (see all 3)29412-93-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 DrugBank Compounds for AHCY    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3'-Oxo-Adenosine-- --target--17139284 17016423 10592235
    D-Eritadenine-- --target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    (1'r,2's)-9-(2-Hydroxy-3'-Keto-Cyclopenten-1-Yl)Adenine-- --target--17139284 17016423

    10/38 Novoseek chemical compound relationships for AHCY gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-adenosylhomocysteine 98.1 286 18211827 (4), 16061414 (3), 19692248 (3), 2383922 (3) (see all 99)
    neplanocin a 95 8 14510357 (2), 8691433 (1), 9357974 (1), 12323054 (1) (see all 7)
    3-deazaadenosine 91.9 10 1586132 (1), 1362066 (1), 19372464 (1), 12910461 (1) (see all 7)
    aristeromycin 89.6 5 7857307 (3), 8819518 (1), 12910461 (1)
    s-adenosylmethionine 82.4 22 17688412 (2), 10213491 (2), 15488656 (1), 18769049 (1) (see all 10)
    homocysteine 78.1 22 17688412 (2), 15241484 (1), 16061414 (1), 16149054 (1) (see all 17)
    deoxyadenosine 73.9 3 9478961 (1), 14578314 (1), 1599494 (1)
    nad+ 68.9 8 18393535 (2), 16872278 (1), 15960499 (1), 8416969 (1) (see all 7)
    tubercidin 67.4 1 17172447 (1)
    nadh 63.7 3 20183597 (1), 12590576 (1), 18393535 (1)

    Search CenterWatch for drugs/clinical trials and news about AHCY / SAHH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AHCY gene (2 alternative transcripts): 
    NM_000687.2  NM_001161766.1  

    Unigene Cluster for AHCY:

    Adenosylhomocysteinase
    Hs.388004  [show with all ESTs]
    Unigene Representative Sequence: NM_001161766
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000217426(uc002xai.3 uc010get.2) ENST00000480653 ENST00000468908
    ENST00000473516 ENST00000538132(uc002xaj.3)

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    hsa-miR-26a-2* hsa-miR-3607-3p hsa-miR-1224-3p hsa-miR-548k hsa-miR-765 hsa-miR-144 hsa-miR-3150b-3p hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidAHCY 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK097610.1 AK290422.1 AK300014.1 AK316180.1 BC010018.2 BC011606.2 BC114924.1 BT006697.1 
    M61832.1 

    24/34 DOTS entries (see all 34):

    DT.91775731  DT.100845265  DT.91775733  DT.95277771  DT.91775721  DT.100845260  DT.100845263  DT.100845255 
    DT.100845249  DT.100845239  DT.100845240  DT.100845242  DT.100845247  DT.91775725  DT.120834040  DT.91775715 
    DT.120833987  DT.120834105  DT.95277776  DT.100845245  DT.101976329  DT.121161601  DT.91775726  DT.95287622 

    24/976 AceView cDNA sequences (see all 976):

    AA444150 BM771884 BP347344 BI518549 AU142252 BU161697 BE278446 BU683541 
    BM789661 BU184044 BU182723 BE267617 BQ890140 BQ651700 BM477259 BU502565 
    BM764136 BI224597 BQ955554 BE274284 AL559691 BM451807 BQ438842 AU141894 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AHCY (see all 8)    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for AHCY

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AHCY expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See AHCY Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AHCY

    SOURCE GeneReport for Unigene cluster: Hs.388004
        SABiosciences Expression via Pathway-Focused PCR Array including AHCY: 
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AHCY gene from 10/43 species (see all 43)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahcy1 , 5 S-adenosylhomocysteine hydrolase1, 5 91.2(n)1
    96.99(a)1
      2 (76.94 cM)5
    2693781  NM_016661.31  NP_057870.31 
     1550593105 
    chicken
    (Gallus gallus)
    Aves AHCY1 adenosylhomocysteinase 81.02(n)
    90.51(a)
      419146  XM_417331.3  XP_417331.3 
    lizard
    (Anolis carolinensis)
    Reptilia AHCY6
    --
    (see all 4)
    --
    88(a)
    49(a)
    (see all 4)
    1 ↔ 1
    possible ortholog
    (see all 4)
    4(138042257-138060141)
    GL343653.1(159797-191632)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9372 Xenopus laevis adenine homocysteine hydrolase mRNA, more 78.79(n)    BC060432.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ahcy2 S-adenosylhomocysteine hydrolase 79.66(n)   387530  AY398307.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ahcy131 , 3 adenosylhomocysteinase3
    Adenosylhomocysteinase at 131
    80(a)3
    76.07(n)1
    81.12(a)1
      1 13C33
    324711  NM_078609.31  NP_511164.21 
    worm
    (Caenorhabditis elegans)
    Secernentea dpy-143
    ahcy-11
    S-adenosylhomocysteine hydrolase3
    Protein AHCY-11
    76(a)3
    70.01(n)1
    77.62(a)1
      I(6844551-6846000)3
    1724081  NM_059554.51  NP_491955.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAH1(YER043C)4
    SAH11
    S-adenosyl-L-homocysteine hydrolase, catabolizes S-adenosyl-L-homocysteine more4
    Sah1p1
    64.87(n)1
    73.71(a)1
      5(237119-235770)4
    8567661, 4  NP_010961.31  NP_010961.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MEE581 adenosylhomocysteinase 1 62.28(n)
    62.44(a)
      827028  NM_117468.2  NP_193130.1 
    rice
    (Oryza sativa)
    Liliopsida Os.82402 Oryza sativa (japonica cultivar-group) isolate 23829 more 78.93(n)    AK098924.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AHCY gene
    AHCYL12  AHCYL22  
    2 SIMAP similar genes for AHCY using alignment to 2 protein entries:     SAHH_HUMAN (see all proteins):
    AHCYL2    AHCYL1

    AHCY for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for AHCY (see all 9)
    PGOHUM00000238774 PGOHUM00000242830 PGOHUM00000247114 PGOHUM00000244547 PGOHUM00000240232


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/622 NCBI SNPs in AHCY are shown (see all 622    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219186081,2
    C,Fpathogenic33697998(-) CAAGTA/GCCCGC 4 Y C mis11Minor allele frequency- G:0.00NA 4538
    rs732614191,2
    C,--29649438(+) TTTAAG/AAATAC 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs42391,2
    C,F,H,--29649964(-) CTTTCA/TCAACC 2 -- ut31 ese321Minor allele frequency- T:0.12MN NA NS EA WA CSA 1790
    rs149411,2
    C--29650026(-) AGAAAA/CACATG 2 -- ut316Minor allele frequency- C:0.00MN 592
    rs125061,2
    C--29650057(-) SAGAAG/TTGACA 2 -- ut316Minor allele frequency- T:0.00MN 592
    rs10645001,2
    C--29650062(-) GAMCAG/CAGAAK 2 -- ut316Minor allele frequency- C:0.00MN 592
    rs10588021,2
    C--29650065(-) AAAGAA/CCASAG 2 -- ut31 ese38Minor allele frequency- C:0.00MN NA 596
    rs10587941,2
    C--29650072(-) AACTGA/CGAAAG 2 -- ut31 ese35Minor allele frequency- C:0.00MN 408
    rs132451,2
    C,F,H,--29650342(-) GTCAGT/GAGTGG 2 -- ut31 ese39Minor allele frequency- G:0.01MN NS EA NA WA 1242
    rs777840411,2
    C,--29650667(+) GGCTTG/TAAGGG 4 L F mis10--------

    HapMap Linkage Disequilibrium report for AHCY (32868071 - 32899608 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AHCY: --
    Human Gene Mutation Database (HGMD): AHCY

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AHCY for disorders           About GeneDecksing

    OMIM gene information: 180960    OMIM disorders: --

    UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
  • Defects in AHCY are the cause of 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

    20/38 diseases for AHCY (see all 38):    About MalaCards
    hypermethioninemia    homocysteine    purine nucleoside phosphorylase deficiency    nucleoside phosphorylase deficiency
    adenosine deaminase deficiency    cleft lip/palate    severe combined immunodeficiency    abdominal aortic aneurysm
    cleft lip    combined immunodeficiency    aortic aneurysm    glycogen storage disease
    spina bifida    venous thrombosis    acute promyelocytic leukemia    hyperhomocysteinemia
    acute myeloid leukemia    myeloid leukemia    metabolic disorders    thrombosis

    4 diseases from the University of Copenhagen DISEASES database for AHCY:
    Purine nucleoside phosphorylase deficiency     Hypermethioninemia     Hyperhomocysteinemia     Severe combined immunodeficiency

    10 Novoseek disease relationships for AHCY gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypermethioninemia 86.4 1 18522500 (1)
    hyperhomocysteinemia 65.3 1 16197288 (1)
    parainfluenza 26.2 2 8691433 (1), 10067274 (1)
    severe combined immunodeficiency 21.5 1 14578314 (1)
    leukemia 19.6 1 10439363 (1)
    immunodeficiency 0.517 4 9708357 (1), 17680812 (1), 9396786 (1)
    venous thrombosis 0 1 15241484 (1)
    necrosis 0 2 17624025 (1)
    tumors 0 8 18713839 (3), 19186948 (1), 10067274 (1)
    cancer 0 1 18713839 (1)

    Genetic Association Database (GAD): AHCY
    Human Genome Epidemiology (HuGE) Navigator: AHCY (14 documents)

    Export disorders for AHCY gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AHCY gene, integrated from 9 sources (see all 211):
    (articles sorted by number of sources associating them with AHCY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis. (PubMed id 15241484)1, 2, 4, 9 Gellekink H.... Blom H.J. (2004)
    2. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. (PubMed id 15024124)1, 2, 9 Baric I....Mudd S.H. (2004)
    3. Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions. (PubMed id 12590576)1, 2, 9 Yang X.... Schowen R.L. (2003)
    4. Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure. (PubMed id 7786017)1, 2, 9 Gupta R.A.... Borchardt R.T. (1995)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength. (PubMed id 9586999)1, 2 Turner M.A....Howell P.L. (1998)
    10. Photoaffinity labeling of human placental S-adenosylhomocysteine hydrolase with [2-3H]8-azido-adenosine. (PubMed id 7608178)1, 2 Yuan C.S. and Borchardt R.T. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 191 HGNC: 343 AceView: AHCY Ensembl:ENSG00000101444 euGenes: HUgn191
    ECgene: AHCY Kegg: 191 H-InvDB: AHCY

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AHCY Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AHCY gene:
    Search GeneIP for patents involving AHCY

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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