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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

MalaCards

our new
Human Malady Compendium

(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 plasmid: AHCY 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

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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	NAS	--
GO:0005829	cytosol	TAS	--
GO:0042470	melanosome	IEA	--

AHCY for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for AHCY

(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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): AHCY Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AHCY
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate AHCY (see all 16):
		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 plasmid: AHCY 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AHCY (see all 7) OriGene shRNA RFP: AHCY OriGene siRNA: AHCY
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AHCY

Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHCY

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004013	adenosylhomocysteinase 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 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Methionine metabolism

Methionine metabolism	1.00	superpathway of methionine degradation	0.38
Methionine metabolism	1.00	methionine degradation I (to homocysteine)	0.31
cysteine biosynthesis III (mammalia)	0.44	Methylation	0.19

Sulfur amino acid metabolism

Sulfur amino acid metabolism

1.00

Cysteine and methionine metabolism

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Biological oxidations

Biological oxidations

1.00

Phase II conjugation

0.52

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

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 Central^TM 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 (P23526^{2, 3} ENSP00000217426⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 207)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000096	sulfur amino acid metabolic process	TAS	--
GO:0006730	one-carbon metabolic process	NAS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0032259	methylation	TAS	--
GO:0034641	cellular 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

Compound	Synonyms	CAS #	PubMed Ids
Adenosine	1-(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	--
NAD	3-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		--	--
Selenohomocysteine	Se-selenocysteine (see all 3)	29412-93-9	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

4 DrugBank Compounds for AHCY About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
3'-Oxo-Adenosine	--	--	target	--	17139284 17016423 10592235
D-Eritadenine	--	--	target	--	17139284 17016423 10592235
Nicotinamide-Adenine-Dinucleotide	--	53-84-9	target	--	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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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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		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate AHCY (see all 16):
		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 plasmid: AHCY 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHCY

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: --

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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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHCY

(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	Ahcy^{1 , 5}	S-adenosylhomocysteine hydrolase^{1, 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	Ahcy13^{1 , 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 856766^{1, 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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918608^1,2	C,F	pathogenic	33697998(-)	`CAAGTA/GCCCGC`	4	Y C	mis¹		1		NA	4538
rs73261419^1,2	C,	--	29649438(+)	`TTTAAG/AAATAC`	2	--	ds500¹		1		WA	2
rs4239^1,2	C,F,H,	--	29649964(-)	`CTTTCA/TCAACC`	2	--	ut3¹ ese³		21		MN NA NS EA WA CSA	1790
rs14941^1,2	C	--	29650026(-)	`AGAAAA/CACATG`	2	--	ut3¹		6		MN	592
rs12506^1,2	C	--	29650057(-)	`SAGAAG/TTGACA`	2	--	ut3¹		6		MN	592
rs1064500^1,2	C	--	29650062(-)	`GAMCAG/CAGAAK`	2	--	ut3¹		6		MN	592
rs1058802^1,2	C	--	29650065(-)	`AAAGAA/CCASAG`	2	--	ut3¹ ese³		8		MN NA	596
rs1058794^1,2	C	--	29650072(-)	`AACTGA/CGAAAG`	2	--	ut3¹ ese³		5		MN	408
rs13245^1,2	C,F,H,	--	29650342(-)	`GTCAGT/GAGTGG`	2	--	ut3¹ ese³		9		MN NS EA NA WA	1242
rs77784041^1,2	C,	--	29650667(+)	`GGCTTG/TAAGGG`	4	L F	mis¹		0	--	--	--	--

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

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AHCY

DNA2.0 Custom Variant and Variant Library Synthesis for AHCY

(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

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)
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)
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)
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)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{1, 2} Chi A....Hunt D.F. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
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)
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)
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		AND	OR
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

Name	Description
PharmGKB entry for AHCY	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AHCY gene
(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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Advanced Cell Diagnostics
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