AHCY - adenosylhomocysteinase Gene

Homo sapiens

Also known as SAHH; adoHcyase

Gene ID: 191 | Gene type: protein coding

About AHCY

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,231,981-34,311,836 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 29.2), thyroid (RPKM 22.9) and 25 other tissues.

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]

AHCY Products(6)

mRNA	Protein	Name
NM_000687.4	NP_000678.1	adenosylhomocysteinase isoform 1
NM_001161766.2	NP_001155238.1	adenosylhomocysteinase isoform 2
NM_001322084.2	NP_001309013.1	adenosylhomocysteinase isoform 2
NM_001322085.2	NP_001309014.1	adenosylhomocysteinase isoform 2
NM_001322086.2	NP_001309015.1	adenosylhomocysteinase isoform 3
NM_001362750.2	NP_001349679.1	adenosylhomocysteinase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables adenosylhomocysteinase activity	IDA IDA: Inferred from direct assay	10933798	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AHCY Protein Structure

AdoHcyase

AdoHcyase_NAD

0
100
200
300
400
432 a.a.

Protein Preferred Names

Protein Names

adenosylhomocysteinase

S-adenosyl-L-homocysteine hydrolase

Recombinant AHCY Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72073	AHCY Protein, Human (His-SUMO)	P23526 (S2-Y432)	≥95%
HY-P72074	AICDA Protein, Mouse (His-Myc)	Q9WVE0 (M1-F198)	≥95%

Related Diseases

Diseases

Alias

Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency

Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase	Hypermethioninemia Due To S-Adenosylhomocysteine Hydrolase Deficiency
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency	Psychomotor Delay Due To S-Adenosylhomocysteine Hydrolase Deficiency
HMAHCHD

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Hyperhomocysteinemia

Adenosine Deaminase Deficiency

Ada Deficiency	Ada-Scid
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Scid Due To Ada Deficiency	Severe Combined Immunodeficiency Due To Ada Deficiency
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Ada
Scid Due To Adenosine Deaminase Deficiency

Copper Deficiency Myelopathy

Swayback

Human Swayback

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY	Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency
Hypermethioninemia Due To Gnmt Deficiency	Hypermethioninemia
Hepatic Methionine Adenosyltransferase Deficiency

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency	Pnp Deficiency
Nucleoside Phosphorylase Deficiency	Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency
Deficiency Of Inosine Phosphorylase	Pnpase Deficiency
PNPD

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Alkaptonuria

Homogentisic Acid Oxidase Deficiency	Alcaptonuria
AKU	Deficiency Of Homogentisicase
Homogentisate 1,2-Dioxygenase Deficiency	Alkaptonuric Ochronosis
Homogentisic Acidura	Ochronosis, Hereditary
Hereditary Ochronosis	Ochronosis
Homogentisicaciduria	Deficiency Of Homogentisate Oxygenase

Tyrosinemia, Type I

Tyrosinemia Type I	Hepatorenal Tyrosinemia
Fumarylacetoacetase Deficiency	Fah Deficiency
TYRSN1	Fumarylacetoacetate Hydrolase Deficiency
Tyrosinemia Type 1	Tyrosinemia 1
Fumarylacetoacetase

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12186	3-Deazaneplanocin A hydrochloride	Inhibitor	99.98%	Unkown
HY-10442	3-Deazaneplanocin A	Inhibitor	99.97%	Unkown
HY-112639	Aristeromycin	Inhibitor	99.34%	Unkown
HY-149048	Adenosylhomocysteinase		/	Unkown
HY-RS00476	AHCY Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AHCY	VGNC	VGNC:79986
Macaca mulatta	AHCY	VGNC	VGNC:84541
Mus musculus	AHCY	MGD	MGI:87968
Bos taurus	AHCY	VGNC	VGNC:25750
Rattus norvegicus	AHCY	RGD	RGD:69260
Canis familiaris	AHCY	VGNC	VGNC:37724
Others	AHCY	NCBI

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