AHCY adenosylhomocysteinase [Homo sapiens] - Gene

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Summary

Official Symbol: AHCYprovided by HGNC
Official Full Name: adenosylhomocysteinaseprovided by HGNC
Primary source: HGNC:343
See related: Ensembl:ENSG00000101444; HPRD:01621; MIM:180960; Vega:OTTHUMG00000140098
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAHH; adoHcyase
Summary: 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]

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Genomic context

Location :: 20q11.22

Sequence :: Chromosome: 20; NC_000020.10 (32868071..32899608, complement)

See AHCY in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The simulations of ligand-induced transition revealed that the signal of intrasubunit closure dynamics is transmitted to form intersubunit contacts, which in turn invoke a precise alignment of active site.
Title: Link between allosteric signal transduction and functional dynamics in a multisubunit enzyme: S-adenosylhomocysteine hydrolase.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
S-adenosylhomocysteine hydrolase
Title: Human S-adenosylhomocysteine hydrolase: common gene sequence variation and functional genomic characterization.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
These data show that 2-5-fold enhanced AdoHcyase activity is well tolerated by the cell, while greatly enhanced AdoHcyase activity results in adenosine-induced apoptosis.
Title: S-Adenosylhomocysteine hydrolase overexpression in HEK-293 cells: effect on intracellular adenosine levels, cell viability, and DNA methylation.
SAHH mRNA was lost in 50% of tumor tissues from 206 patients with different kinds of tumors in comparison with normal tissue counterparts. Moreover, SAHH protein was also affected in some colon cancers
Title: S-adenosylhomocysteine hydrolase downregulation contributes to tumorigenesis.
increased plasma concentration in patients with idiopathic thrombocytopenic purpura
Title: Decreased DNA methyltransferase 3A and 3B mRNA expression in peripheral blood mononuclear cells and increased plasma SAH concentration in adult patients with idiopathic thrombocytopenic purpura.
Streptococcal pyrogenic exotoxin B (SPE B) potentially causes immunosuppression by cleaving human S-adenosylhomocysteine hydrolase (AdoHcyase).
Title: Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia.
SAHH from Homo sapiens (Hs-SAHH) and from the parasite Trypanosoma cruzi (Tc-SAHH) are very similar in structure and catalytic properties but differ in the kinetics and thermodynamics of association and dissociation of the cofactor NAD (+)
Title: Comparative kinetics of cofactor association and dissociation for the human and trypanosomal S-adenosylhomocysteine hydrolases. 2. The role of helix 18 stability.
Observational study of genetic testing. (HuGE Navigator)
Title: High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

MIM: 613752

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Products	Interactant	Other Gene	Source	Pubs	Description
P23526	P23526	AHCY	HPRD	PubMed
BioGRID:106696	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:109351	HLA-B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:200937	Kif1c	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:204968	Mapk13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:120319	PINX1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:113014	TP73	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106696	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106696	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
adenosylhomocysteinase activity	TAS Traceable Author Statement more info
hydrolase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
methylation	TAS Traceable Author Statement more info
one-carbon metabolic process	NAS Non-traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
sulfur amino acid metabolic process	TAS Traceable Author Statement more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	NAS Non-traceable Author Statement more info
cytosol	TAS Traceable Author Statement more info
melanosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: adenosylhomocysteinase

Names: adenosylhomocysteinase; S-adenosylhomocysteine hydrolase; S-adenosyl-L-homocysteine hydrolase

NP_000678.1

EC 3.3.1.1

NP_001155238.1

EC 3.3.1.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012630.1 RefSeqGene

Range

5001..36538

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000687.2 → NP_000678.1 adenosylhomocysteinase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK097610, AK290422, BE785593, DC301059, DC413105

Consensus CDS

CCDS13233.1

UniProtKB/TrEMBL

B3KUN3

UniProtKB/Swiss-Prot

P23526

Related

ENSP00000217426, OTTHUMP00000030684, ENST00000217426, OTTHUMT00000078773

Conserved Domains (2) summary

cd00401
Location:12 – 424
Blast Score: 1891

AdoHcyase; S-adenosyl-L-homocysteine hydrolase (AdoHycase) catalyzes the hydrolysis of S-adenosyl-L-homocysteine (AdoHyc) to form adenosine (Ado) and homocysteine (Hcy). The equilibrium lies far on the side of AdoHyc synthesis, but in nature the removal of Ado and ...

PRK05476
Location:1 – 426
Blast Score: 2094

PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
NM_001161766.1 → NP_001155238.1 adenosylhomocysteinase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK097610, BC010018, BE785593, DB043400

Consensus CDS

CCDS54457.1

UniProtKB/TrEMBL

B3KUN3

UniProtKB/TrEMBL

F5H737

UniProtKB/Swiss-Prot

P23526

Related

ENSP00000442820, ENST00000538132

Conserved Domains (2) summary

cd00401
Location:1 – 396
Blast Score: 1826

AdoHcyase; S-adenosyl-L-homocysteine hydrolase (AdoHycase) catalyzes the hydrolysis of S-adenosyl-L-homocysteine (AdoHyc) to form adenosine (Ado) and homocysteine (Hcy). The equilibrium lies far on the side of AdoHyc synthesis, but in nature the removal of Ado and ...

PRK05476
Location:1 – 398
Blast Score: 1992

PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p5 Primary Assembly

Range

32868071..32899608, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

29649874..29681357, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL356299.16	CAC09528.1
genomic	CH471077.2	EAW76279.1
		EAW76280.1
		EAW76281.1
mRNA	AK097610.1	BAG53495.1
mRNA	AK290422.1	BAF83111.1
mRNA	AK300014.1	BAG61829.1
mRNA	AK309204.1	None
mRNA	AK316180.1	BAH14551.1
mRNA	BC010018.2	AAH10018.1
mRNA	BC011606.2	AAH11606.1
mRNA	BC114924.1	AAI14925.1
mRNA	BE785593.1	None
mRNA	BT006697.1	AAP35343.1
mRNA	DB043400.1	None
mRNA	DC301059.1	None
mRNA	DC413105.1	None
mRNA	M61831.1	AAA51681.1
mRNA	M61832.1	AAA51682.1
other-genetic	DQ890569.2	ABM92186.1
other-genetic	DQ891701.2	ABM82627.1
other-genetic	DQ893730.2	ABM84656.1
other-genetic	DQ895397.2	ABM86323.1