AMPD3 - adenosine monophosphate deaminase 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 272

About AMPD3

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:10,450,388-10,507,579 (from NCBI)

This gene has 18 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues.

Summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas Other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

AMPD3 Products (5)

mRNA Protein Name
NM_000480.3 NP_000471.1 AMP deaminase 3 isoform 1A
NM_001025389.2 NP_001020560.1 AMP deaminase 3 isoform 1B
NM_001025390.2 NP_001020561.1 AMP deaminase 3 isoform 1C
NM_001172430.1 NP_001165901.1 AMP deaminase 3 isoform 1B
NM_001172431.2 NP_001165902.1 AMP deaminase 3 isoform 4

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25910212 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

AMPD3 Protein Structure

A_deaminase

A_deaminase: Adenosine/AMP deaminase (310 - 716)

  • 0
  • 200
  • 400
  • 600
  • 767 a.a.
Protein Preferred Names Protein Names

AMP deaminase 3

  • AMP aminohydrolase

AMPD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AMPD3 Q01432 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Erythrocyte Amp Deaminase Deficiency

  • Amp Deaminase Deficiency, Erythrocytic

  • Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type

  • AMPDDE

  • Amp Deaminase Deficiency Erythrocyte Type
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
Disorder Of Purine Metabolism

  • Purine Metabolism Disorder
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
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
Myoglobinuria
Pontocerebellar Hypoplasia, Type 9

  • Pontocerebellar Hypoplasia Type 9

  • PCH9

  • Pontocerebellar Hypoplasia 9

  • Hypoplasia, Pontocerebellar, Type 9
Myopathy

  • Muscular Diseases

  • Myopathies
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00668 AMPD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21479 Ampd3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27997 Ampd3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AMPD3 RGD RGD:2111
Bos taurus AMPD3 VGNC VGNC:50189
Felis catus AMPD3 VGNC VGNC:67522
Mus musculus AMPD3 MGD MGI:1096344
Macaca mulatta AMPD3 VGNC VGNC:69808
Others AMPD3 NCBI