Homo sapiens Gene: AMPD3
Summary
InnateDB Gene IDBG-31696.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMPD3
Gene Name adenosine monophosphate deaminase 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000133805
Encoded Proteins
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
adenosine monophosphate deaminase 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:10308313-10507579
Strand Forward strand
Band p15.4
Transcripts
ENST00000295663
ENST00000396554 ENSP00000379802
ENST00000396553 ENSP00000379801
ENST00000444303 ENSP00000396000
ENST00000527261
ENST00000532250 ENSP00000432707
ENST00000532966
ENST00000527369
ENST00000529835
ENST00000524866 ENSP00000433284
ENST00000534047 ENSP00000433937
ENST00000529834 ENSP00000435382
ENST00000528723 ENSP00000436987
ENST00000529507 ENSP00000431648
ENST00000531227
ENST00000533116 ENSP00000433351
ENST00000530864
ENST00000529744 ENSP00000434608
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:0046031 ADP metabolic process
GO:0046033 AMP metabolic process
GO:0046034 ATP metabolic process
GO:0055086 nucleobase-containing small molecule metabolic process
GO:0097009 energy homeostasis
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Purine metabolism pathway
Purine salvage pathway
Metabolism of nucleotides pathway
Metabolism pathway
KEGG
Purine metabolism pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.738353
RefSeq NM_000480 NM_001025389 NM_001025390 NM_001172430 NM_001172431
HUGO
OMIM
CCDS CCDS41617 CCDS44537 CCDS53601 CCDS7802
HPRD 00041
IMGT
EMBL
GenPept
RNA Seq Atlas