InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AMPD1

Summary

InnateDB Protein

IDBP-475603.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AMPD1

Protein Name

adenosine monophosphate deaminase 1

Synonyms

MAD; MADA; MMDD;

Species

Homo sapiens

Ensembl Protein

ENSP00000430075

InnateDB Gene

IDBG-101299 (AMPD1)

Protein Structure

UniProt Annotation

Function

AMP deaminase plays a critical role in energy metabolism.

Subcellular Localization

Disease Associations

Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]: A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. {ECO:0000269PubMed:11102975}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003876	AMP deaminase activity
GO:0019239	deaminase activity
GO:0032036	myosin heavy chain binding
GO:0046872	metal ion binding

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0010033	response to organic substance
GO:0032264	IMP salvage
GO:0043101	purine-containing compound salvage
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process