AMPD1 - adenosine monophosphate deaminase 1 Gene

Also Known as MAD; MADA; MMDD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 270

About AMPD1

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:114,673,098-114,695,546 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues.

Summary

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two Other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

AMPD1 Products (2)

mRNA	Protein	Name
NM_000036.3	NP_000027.3	AMP deaminase 1 isoform 1
NM_001172626.2	NP_001166097.2	AMP deaminase 1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables AMP deaminase activity	IMP IMP: Inferred from mutant phenotype	11102975	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GMP salvage	IDA IDA: Inferred from direct assay	29079593	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

AMPD1 Protein Structure

A_deaminase

0
200
400
600
780 a.a.

Protein Preferred Names	Protein Names
AMP deaminase 1	AMPD

AMPD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AMPD1	P23109	AMPD3	Homo sapiens	Q01432-4	Validated Y2H	32296183
Intra	AMPD1	P23109	AMPD3	Homo sapiens	Q01432-4	Y2H Array	32296183
Intra	AMPD1	P23109	AMPD3	Homo sapiens	Q01432-4	Y2H Prey Pooling	32296183
Intra	AMPD1	P23109	AMPD2	Homo sapiens	Q01433-2	Validated Y2H	32296183
Intra	AMPD1	P23109	AMPD1	Homo sapiens	P23109	Validated Y2H	32296183
Intra	AMPD1	P23109	AMPD1	Homo sapiens	P23109	Y2H Array	32296183
Intra	AMPD1	P23109	AMPD1	Homo sapiens	P23109	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy Due To Myoadenylate Deaminase Deficiency	Adenosine Monophosphate Deaminase Deficiency Myoadenylate Deaminase Deficiency Muscle Amp Deaminase Deficiency MMDD Ampd1 Deficiency Amp Deaminase Deficiency Mad Deficiency Adenosine Monophosphate Deaminase-1 Deficiency, Myopathy Due To Myoadenylate Deaminase Deficiency, Myopathy Due To Adenosine Monophosphate Deaminase 1 Deficiency Amp Deaminase 1 Deficiency Exercise-Induced Myopathy Mada Deficiency Adenosine Monophosphate Deaminase Deficiency Muscle Type Amp Deaminase Deficiency Muscle Type Myopathy, Due To Myoadenylate Deaminase Deficiency
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Metabolic Myopathy
Myopathy	Muscular Diseases Myopathies
Cylindrical Spirals Myopathy	Myotonic Myopathy With Cylindrical Spirals
Myoglobinuria
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular Cpt Ii Deficiency, Hepatic Cpt2 Deficiency, Infantile Cpt Ii Deficiency, Infantile Cpt Ii Deficiency Carnitine Palmitoyltransferase 2 Deficiency Cpt2 Carnitine Palmitoyltransferase Deficiency Type 2 Carnitine Palmitoyl Transferase 2 Deficiency Cpt-Ii Infantile Carnitine Palmitoyltransferase Ii Deficiency Late-Onset Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyltransferase Ii Deficiency Cpt2 Deficiency Cptii Cpt2, Hepatocardiomuscular Form Cpt2, Severe Infantile Form Cptii, Hepatocardiomuscular Form Cptii, Severe Infantile Form Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form Carnitine Palmitoyltransferase 2 Deficiency, Infantile CPT2DI Cpt Deficiency, Hepatic, Type Ii Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
Glycogen Storage Disease Vii	Glycogen Storage Disease Type Vii Muscle Phosphofructokinase Deficiency Tarui Disease GSD7 Pfkm Deficiency Gsd Vii Glycogen Storage Disease, Type Vii Glycogen Storage Disease Type 7 Phosphofructokinase Deficiency Glycogenosis Type Vii Phosphofructokinase Myopathy Glycogenosis 7 Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency Gsd Due To Muscle Phosphofructokinase Deficiency Gsd Type 7 Gsd Type Vii Glycogenosis Due To Muscle Phosphofructokinase Deficiency Glycogenosis Type 7 Glycogen Storage Disease 7 Gsd-Vii Storage Disease, Glycogen, Type Vii
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00666	AMPD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AMPD1	VGNC	VGNC:69806
Rattus norvegicus	AMPD1	RGD	RGD:2109
Canis familiaris	AMPD1	VGNC	VGNC:37838
Mus musculus	AMPD1	MGD	MGI:88015
Bos taurus	AMPD1	VGNC	VGNC:25873
Felis catus	AMPD1	VGNC	VGNC:67510
Others	AMPD1	NCBI