ENSG00000116748


Homo sapiens

Features
Gene ID: ENSG00000116748
  
Biological name :AMPD1
  
Synonyms : adenosine monophosphate deaminase 1 / AMPD1 / P23109
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p13.2
Gene start: 114673090
Gene end: 114695618
  
Corresponding Affymetrix probe sets: 206121_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000430075
Ensembl peptide - ENSP00000489753
Ensembl peptide - ENSP00000358551
NCBI entrez gene - 270     See in Manteia.
OMIM - 102770
RefSeq - NM_000036
RefSeq - NM_001172626
RefSeq Peptide - NP_000027
RefSeq Peptide - NP_001166097
swissprot - A0A1B0GTL6
swissprot - P23109
Ensembl - ENSG00000116748
  
Related genetic diseases (OMIM): 615511 - Myopathy due to myoadenylate deaminase deficiency, 615511
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
 ampd1ENSDARG00000033832Danio rerio
 AMPD1ENSGALG00000002082Gallus gallus
 Ampd1ENSMUSG00000070385Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AMPD3 / Q01432 / adenosine monophosphate deaminase 3ENSG0000013380557
AMPD2 / Q01433 / adenosine monophosphate deaminase 2ENSG0000011633747


Protein motifs (from Interpro)
Interpro ID Name
 IPR001365  Adenosine/AMP deaminase domain
 IPR006329  AMP deaminase
 IPR006650  Adenosine/AMP deaminase active site
 IPR029770  AMP deaminase 1
 IPR032466  Metal-dependent hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009117 nucleotide metabolic process IEA
 biological_processGO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0032264 IMP salvage IEA
 biological_processGO:0043101 purine-containing compound salvage TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003876 AMP deaminase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019239 deaminase activity IEA
 molecular_functionGO:0032036 myosin heavy chain binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Purine salvage


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0003201 Rhabdomyolysis 
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 HP:0003394 Muscle cramps 
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 HP:0003690 Limb muscle weakness "Weakness of the muscles of the arms and legs." [HPO:curators]
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 HP:0003738 Exercise-induced myalgia "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators]
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 HP:0003750 Muscle fatigue "An abnormal, increased fatigability of the musculature." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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 HP:0009020 Exercise-induced muscle fatigue "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000116748 AMPD1 / P23109 / adenosine monophosphate deaminase 1  / complex






 

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