ENSG00000198931


Homo sapiens

Features
Gene ID: ENSG00000198931
  
Biological name :APRT
  
Synonyms : adenine phosphoribosyltransferase / APRT / P07741
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q24.3
Gene start: 88809339
Gene end: 88811944
  
Corresponding Affymetrix probe sets: 203219_s_at (Human Genome U133 Plus 2.0 Array)   213892_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455692
Ensembl peptide - ENSP00000455749
Ensembl peptide - ENSP00000456012
Ensembl peptide - ENSP00000456905
Ensembl peptide - ENSP00000457964
Ensembl peptide - ENSP00000367615
Ensembl peptide - ENSP00000397007
NCBI entrez gene - 353     See in Manteia.
OMIM - 102600
RefSeq - NM_001030018
RefSeq - NM_000485
RefSeq Peptide - NP_000476
RefSeq Peptide - NP_001025189
swissprot - P07741
swissprot - H3BQB1
swissprot - H3BQF1
swissprot - H3BQZ9
swissprot - H3BSW3
Ensembl - ENSG00000198931
  
Related genetic diseases (OMIM): 614723 - Adenine phosphoribosyltransferase deficiency, 614723
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
 aprtENSDARG00000003519Danio rerio
 APRTENSGALG00000031000Gallus gallus
 AprtENSMUSG00000006589Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000836  Phosphoribosyltransferase domain
 IPR005764  Adenine phosphoribosyl transferase
 IPR029057  Phosphoribosyltransferase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006166 purine ribonucleoside salvage IEA
 biological_processGO:0006168 adenine salvage IEA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0007625 grooming behavior IEA
 biological_processGO:0009116 nucleoside metabolic process IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0043101 purine-containing compound salvage TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0044209 AMP salvage IEA
 biological_processGO:0046083 adenine metabolic process IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0002055 adenine binding IEA
 molecular_functionGO:0003999 adenine phosphoribosyltransferase activity TAS
 molecular_functionGO:0016208 AMP binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
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:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000787 Kidney stones 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0003774 End stage renal disease 
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 HP:0100518 Dysuria "Painful or difficult `urination` (GO:0060073)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000198931 APRT / P07741 / adenine phosphoribosyltransferase  / complex






 

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