Version 5.4
Homo sapiens Protein: AMPD3
Summary
InnateDB Protein IDBP-237246.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMPD3
Protein Name adenosine monophosphate deaminase 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000379801
InnateDB Gene IDBG-31696 (AMPD3)
Protein Structure
UniProt Annotation
Function AMP deaminase plays a critical role in energy metabolism.
Subcellular Localization
Disease Associations Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269PubMed:11139257, ECO:0000269PubMed:7881427, ECO:0000269PubMed:8004104, ECO:0000269PubMed:9598089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [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:0046872 metal ion binding
Biological Process
GO:0006144 purine nucleobase metabolic process
GO:0006188 IMP biosynthetic process
GO:0006196 AMP catabolic process
GO:0032264 IMP salvage
GO:0043101 purine-containing compound salvage
GO:0044281 small molecule metabolic process
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR001365 Adenosine/AMP deaminase domain
IPR006329 AMP deaminase
PFAM PF00962
PRINTS
PIRSF PIRSF001251
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q01432
PhosphoSite PhosphoSite-Q01432
TrEMBL E9PPG2
UniProt Splice Variant
Entrez Gene 272
UniGene Hs.738353
RefSeq NP_001020560
HUGO HGNC:470
OMIM 102772
CCDS CCDS41617
HPRD 00041
IMGT
EMBL AC021914 AC080023 AC084117 AK289998 AK295046 AK301507 AK302970 BC126118 CH471064 D12775 D31646 M84720 M84721 M84722 U29907 U29909 U29910 U29911 U29912 U29916 U29917 U29918 U29922 U29924 U29925 U29926 U29927 U29929
GenPept AAA58365 AAA58366 AAA58367 AAB60408 AAB60409 AAB60410 AAI26119 BAA02240 BAA06505 BAF82687 BAH11958 BAH13499 BAH13863 EAW68567 EAW68568 EAW68569

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca