 |
 | Services
| |
 |
Aliases & Descriptions for AHCY
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AdoHcyase 3 | | EC 3.3.1.1 3 | | OTTHUMP00000030684 2 | | SAHH 1, 2, 3, 5 | | adenosylhomocysteinase 2 |
| | | Descriptions |
|---|
| S-adenosyl-L-homocysteine hydrolase 3 | | S-adenosylhomocysteine hydrolase 2 |
|
| | Search outside databases for aliases for AHCY genePrevious GC identifers: GC20M032626 GC20M033491 GC20M033583 |
Summaries for AHCY(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for AHCY: S-adenosylhomocysteine hydrolase 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. S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. [provided by RefSeq] UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526Function: 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 |
Genomic Location for AHCY
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AHCY gene 
Entrez Gene cytogenetic band: 20cen-q13.1 Ensembl cytogenetic band: 20q11.22 HGNC cytogenetic band: 20q11.22AHCY Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M032331:
(about GC identifiers)
Start:
|
32,331,737 bp from pter |
End:
|
32,354,811 bp from pter |
Size:
|
23,075 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_028392.5
| Proteins for AHCY
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structure from and Proteopedia :1A7A (3D)
 1LI4 (3D)
 
Secondary accessions: Q96A36Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000678.1
ENSEMBL proteins: ENSP00000217426
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: AHCY 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for AHCY: Assays for AHCY: | Protein
Domains/ Families for AHCY(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P23526Similarity: Belongs to the adenosylhomocysteinase family | Gene Function for AHCY
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000687
Applied Biosystems Silencer® siRNAs for AHCY
Sigma-Aldrich siRNA and siRNA Panels for AHCY  Sigma-Aldrich shRNA for AHCY  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000687                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000687                                  untagged cDNA clone in CMV expression vector: NM_000687 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000687
UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526Function: 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 adenosylhomocysteineCatalytic activity: S-adenosyl-L-homocysteine + H(2)O = L-homocysteine + adenosineEnzyme Number (IUBMB): EC 3.3.1.1 Genatlas biochemistry entry for AHCY:S-adenosyl-homocysteine hydrolase,sulfur aminoacid metabolism,transmethylation pathway1 MGI phenotypic allele for Ahcy (no phenotypes)
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for AHCY
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
3 Sigma-Aldrich "Your Favorite Gene" Pathways for AHCY (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526Pathway: Amino-acid biosynthesis; homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1 5/36 Interacting proteins for AHCY (P235261, 2 ENSP000002174263) via UniProtKB, MINT, and/or STRING (see all 36
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006730 | one-carbon compound metabolic process |
NAS | -- | | GO:0008152 | metabolic process |
IEA | -- | About this table
|
Drugs & Compounds for AHCY(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for AHCY 10/23 Novoseek chemical compound relationships for AHCY gene (see all 23
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| s-adenosylhomocysteine |
98.12 |
261 |
18211827 (4), 16061414 (3), 7857307 (3), 16005528 (3) (see all 99) |
| 3-deazaadenosine |
91.53 |
9 |
1586132 (1), 1362066 (1), 12910461 (1), 9277463 (1) (see all 6) |
| aristeromycin |
89.94 |
5 |
7857307 (3), 8819518 (1), 12910461 (1) |
| s-adenosylmethionine |
83.32 |
22 |
17688412 (2), 10213491 (2), 15488656 (1), 18769049 (1) (see all 10) |
| homocysteine |
78.12 |
21 |
17688412 (2), 15241484 (1), 16061414 (1), 16149054 (1) (see all 16) |
| deoxyadenosine |
74.80 |
3 |
9478961 (1), 14578314 (1), 1599494 (1) |
| nad+ |
69.08 |
8 |
18393535 (2), 16872278 (1), 15960499 (1), 8416969 (1) (see all 7) |
| homocysteine thiolactone |
61.50 |
2 |
10766176 (1) |
| nadh |
61.17 |
2 |
12590576 (1), 18393535 (1) |
| ribose |
58.95 |
3 |
18066890 (1), 18819082 (1), 12323054 (1) |
About this table
3 PharmGKB drug compound relationships for AHCY geneAbout this table
|
Transcripts for AHCY(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000687
Sigma-Aldrich siRNA and siRNA Panels for AHCY  Sigma-Aldrich shRNA for AHCY  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000687 REFSEQ mRNAs for AHCY gene: NM_000687.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000687               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000687                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000687                                  untagged cDNA clone in CMV expression vector: NM_000687  Additional cDNA sequence: AK097610.1 AK290422.1 AK300014.1 AK309204.1 AK316180.1 BC010018.2 BC011606.2 BC114924.1 BT006697.1 CR594678.1 CR603449.1 CR603916.1 CR609798.1 CR610700.1 CR613383.1 CR614546.1 CR616968.1 CR619776.1 M61831.1 M61832.1 24/35 DOTS entries (see all 35
): 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.435169 DT.95277776 DT.100845245 DT.101976329 DT.91775726 DT.95287622 24/976 AceView cDNA sequences (see all 976
):BP358508 BQ055481 BQ653110 BI908170 BM719905 AI144407 BU161697 BI518549 BU156754 BM694106 BM766828 BU186467 BU839752 BM905168 BU517126 BM764136 AU142242 BM741835 BM460331 AU143174 BQ688034 BP351133 BM475473 BX400110
highest scoring ESTs for AHCY:M61832 AK097610 AL515030 AL517111 AL517863 AL534662 AL539127 AL546676 AL551545 AL552731 Unigene Cluster for AHCY: S-adenosylhomocysteine hydrolase Hs.388004 [show with all ESTs]Unigene Representative Sequence: AK097610
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AHCY (see all 8
)
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for AHCY
1 Ensembl transcript including schematic representation: ENST00000217426
|
Expression for AHCY
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AHCY expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AHCY
1 / 2 / 3 3 probe-sets matching AHCY gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.388004
Expression variation in blood from EXPOLDB for AHCY |
Orthologs for AHCY
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AHCY gene from 5/28 species (see all 28
)
About this table Species with no ortholog for AHCY
ENSEMBL Gene Tree for AHCY | Paralogs for AHCY(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AHCY gene
- AHCYL12 AHCYL22
Pseudogenes
- 7 related pseudogenes
|
SNPs/Variants for AHCY(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AHCY (up to first 250kb)
|
Disorders & Mutations for AHCY
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 180960 UniProtKB/Swiss-Prot: SAHH_HUMAN, P23526
Defects in AHCY are a cause of hypermethioninemia [MIM:180960]. It is a disease characterized by elevated levels of methionine in the sera10 Novoseek disease relationships for AHCY gene
About this table
1 PharmGKB disease relationship for AHCY geneAbout this table
Human Gene Mutation Database: AHCY Genetic Association Database: AHCY Human Genome Epidemiology Navigator: AHCY (6 documents)
|
Medical News for AHCY(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AHCY (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/169 PubMed articles for AHCY gene (see all 169
):- 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, 3, 6 Gellekink H....Blom H.J. (2004)
- Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure. (PubMed id 7786017)1, 3, 4 Gupta R.A.... Borchardt R.T. (1995)
- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)3, 4 Chi A....Hunt D.F. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)3, 4 Deloukas P....Rogers J. (2001)
- Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength. (PubMed id 9586999)3, 4 Turner M.A....Howell P.L. (1998)
- Photoaffinity labeling of human placental S-adenosylhomocysteine hydrolase with [2-3H]8-azido-adenosine. (PubMed id 7608178)3, 4 Yuan C.S. and Borchardt R.T. (1995)
- Kinetic properties of the common electrophoretic variants of human S-adenosylhomocysteine hydrolase (AHCY): the effect of four nucleoside analogue inhibitors. (PubMed id 1586132)1, 7 Corbo R.M....Bozzi A. (1992)
- Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase. (PubMed id 2596825)3, 4 Coulter-Karis D.E. and Hershfield M.S. (1989)
- Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY). (PubMed id 2574561)3, 4 Arredondo-Vega F.X....Whitehouse D.B. (1989)
|
Search for AHCY
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AHCY
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AHCY
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AHCY(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for AHCY(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AHCY:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for AHCY |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|