Version 5.4
Homo sapiens Gene: AMPD1
Summary
InnateDB Gene IDBG-101299.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMPD1
Gene Name adenosine monophosphate deaminase 1
Synonyms MAD; MADA; MMDD
Species Homo sapiens
Ensembl Gene ENSG00000116748
Encoded Proteins
IDBP-101301
adenosine monophosphate deaminase 1
IDBP-475603
adenosine monophosphate deaminase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:114673098-114695618
Strand Reverse strand
Band p13.2
Transcripts
ENST00000369538 ENSP00000358551
ENST00000520113 ENSP00000430075
ENST00000485564
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
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000070385
View Gene Order
ENSBTAG00000011548
Not yet available
Pathways
NETPATH
REACTOME
REACT_1923
Purine salvage pathway
REACT_1698
Metabolism of nucleotides pathway
REACT_522
Purine metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00230
Purine metabolism pathway
INOH
INOH website
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt P23109
TrEMBL Q6F4B5 Q6F4B6 Q6F4B7 Q6F4B8 Q6F4B9
UniProt Splice Variant
Entrez Gene 270
UniGene Hs.89570
RefSeq NM_000036 NM_001172626
HUGO HGNC:468
OMIM 102770
CCDS CCDS53349 CCDS876
HPRD
IMGT
EMBL AB160874 AB160875 AB160876 AB160877 AB160878 AK291349 AK314252 AL096773 CH471122 M37920 M37921 M37922 M37923 M37924 M37927 M37928 M37929 M37930 M37931 M60092
GenPept AAA57281 AAG24258 BAD27426 BAD27427 BAD27428 BAD27429 BAD27430 BAF84038 BAG36918 CAI18828 CAI18830 EAW56607
RNA Seq Atlas 270

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