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Description for Protein AMPD1

adenosine monophosphate deaminase 1
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.5.4.6
KEGG - Orthology:
K01490
KEGG - Pathway(s):
hsa00230; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Myoadenylate deaminase; AMP deaminase 1; Adenosine monophosphate deaminase 1; AMP deaminase, isoform M; EC 3.5.4.6
Approved Symbol:
AMPD1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adenosine monophosphate(db)

    Associated Genetic Diseases:

  • AMPD deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00040 Entrez Gene ID: 270 OMIM ID: 102770 Swissprot Accession: P23109;