AHCY - adenosylhomocysteinase Gene

Also Known as SAHH; adoHcyase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 191

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	References	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

AHCY Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AHCY	P23526	ANKRD40	Homo sapiens	Q6AI12	Y2H Array	25910212
Intra	AHCY	P23526	ANKRD40	Homo sapiens	Q6AI12	Validated Y2H	25910212
Intra	AHCY	P23526	ANKRD40	Homo sapiens	Q6AI12	Y2H Bait-Prey Pool	25910212
Intra	AHCY	P23526	ANKRD40	Homo sapiens	Q6AI12	Anti Tag CoIP	28514442
Intra	AHCY	P23526	ANKRD40	Homo sapiens	Q6AI12	Anti Tag CoIP	33961781
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Bait-Prey Pool	25910212
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Array	25910212
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Anti Tag CoIP	33961781
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Prey Pooling	32296183
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Anti Tag CoIP	28514442
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Validated Y2H	32296183
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Array	25416956
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Array	32296183
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	SLC	25910212
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Validated Y2H	25910212
Intra	AHCY	P23526	C1orf50	Homo sapiens	Q9BV19	Y2H Prey Pooling	25416956
Intra	AHCY	P23526	APPBP2	Homo sapiens	Q92624	Validated Y2H	25416956
Intra	AHCY	P23526	APPBP2	Homo sapiens	Q92624	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AHCY Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72073	AHCY Protein, Human (His-SUMO)	P23526 (S2-Y432)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P72074	AICDA Protein, Mouse (His-Myc)	Q9WVE0 (M1-F198)	≥ 90%, as determined by reducing SDS-PAGE.

AHCY Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87063	SAHH Antibody(YA6756)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10442	3-Deazaneplanocin A	Inhibitor	99.97%	Unkown
HY-12186	3-Deazaneplanocin A hydrochloride	Inhibitor	99.98%	Unkown
HY-112639	Aristeromycin	Inhibitor	99.10%	Unkown
HY-149048	Adenosylhomocysteinase		/	Unkown
HY-RS00476	AHCY Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16799	Ahcy Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23240	Ahcy Rat Pre-designed siRNA Set A	Pre-designed Set	/	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