ENSG00000133805


Homo sapiens

Features
Gene ID: ENSG00000133805
  
Biological name :AMPD3
  
Synonyms : adenosine monophosphate deaminase 3 / AMPD3 / Q01432
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.4
Gene start: 10308313
Gene end: 10507579
  
Corresponding Affymetrix probe sets: 207992_s_at (Human Genome U133 Plus 2.0 Array)   209491_s_at (Human Genome U133 Plus 2.0 Array)   237915_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433284
Ensembl peptide - ENSP00000433351
Ensembl peptide - ENSP00000436987
Ensembl peptide - ENSP00000435382
Ensembl peptide - ENSP00000434608
Ensembl peptide - ENSP00000433937
Ensembl peptide - ENSP00000379801
Ensembl peptide - ENSP00000379802
Ensembl peptide - ENSP00000396000
Ensembl peptide - ENSP00000431648
Ensembl peptide - ENSP00000432707
NCBI entrez gene - 272     See in Manteia.
OMIM - 102772
RefSeq - NM_001172431
RefSeq - NM_000480
RefSeq - NM_001025389
RefSeq - NM_001025390
RefSeq - NM_001172430
RefSeq Peptide - NP_001165902
RefSeq Peptide - NP_000471
RefSeq Peptide - NP_001020560
RefSeq Peptide - NP_001020561
RefSeq Peptide - NP_001165901
swissprot - Q01432
swissprot - E9PLK6
swissprot - E9PKC5
swissprot - E9PIR5
swissprot - H0YDC3
swissprot - H0YDY8
swissprot - E9PPG2
Ensembl - ENSG00000133805
  
Related genetic diseases (OMIM): 612874 - [AMP deaminase deficiency, erythrocytic], 612874
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ampd3aENSDARG00000005800Danio rerio
 ampd3bENSDARG00000032469Danio rerio
 AMPD3ENSGALG00000005662Gallus gallus
 Ampd3ENSMUSG00000005686Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AMPD1 / P23109 / adenosine monophosphate deaminase 1ENSG0000011674858
AMPD2 / Q01433 / adenosine monophosphate deaminase 2ENSG0000011633750


Protein motifs (from Interpro)
Interpro ID Name
 IPR001365  Adenosine/AMP deaminase domain
 IPR006329  AMP deaminase
 IPR006650  Adenosine/AMP deaminase active site
 IPR029771  AMP deaminase 3
 IPR032466  Metal-dependent hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006188 IMP biosynthetic process IEA
 biological_processGO:0006196 AMP catabolic process TAS
 biological_processGO:0009117 nucleotide metabolic process IEA
 biological_processGO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA
 biological_processGO:0032264 IMP salvage IEA
 biological_processGO:0034101 erythrocyte homeostasis IEA
 biological_processGO:0043101 purine-containing compound salvage TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0046031 ADP metabolic process IEA
 biological_processGO:0046033 AMP metabolic process IEA
 biological_processGO:0046034 ATP metabolic process IEA
 biological_processGO:0046039 GTP metabolic process IEA
 biological_processGO:0097009 energy homeostasis IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0003876 AMP deaminase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019239 deaminase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
Purine salvage


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0003394 Muscle cramps 
Show

 HP:0003690 Limb muscle weakness "Weakness of the muscles of the arms and legs." [HPO:curators]
Show

 HP:0003738 Exercise-induced myalgia "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators]
Show

 HP:0009020 Exercise-induced muscle fatigue "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000133805 AMPD3 / Q01432 / adenosine monophosphate deaminase 3  / complex






 

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contact: otassy@igbmc.fr