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    APRT adenine phosphoribosyltransferase [ Homo sapiens ]

    Gene ID: 353, updated on 11-May-2012
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    Summary

    Official Symbol
    APRTprovided by HGNC
    Official Full Name
    adenine phosphoribosyltransferaseprovided by HGNC
    Primary source
    HGNC:626
    See related
    Ensembl:ENSG00000198931; HPRD:00029; MIM:102600; Vega:OTTHUMG00000175454
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMP; MGC125856; MGC125857; MGC129961; DKFZp686D13177
    Summary
    Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    16q24
    Sequence :
    Chromosome: 16; NC_000016.9 (88875877..88878342, complement)
    See APRT in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene piezo-type mechanosensitive ion channel component 1 Neighboring gene uncharacterized protein FLJ40448 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene galactosamine (N-acetyl)-6-sulfate sulfatase Neighboring gene trafficking protein particle complex 2-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. Nozue H, et al. Acta Paediatr, 2011 Dec. PMID 21635362.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (47) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals.
      Title: A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
    2. The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported.
      Title: The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.
    3. Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate.
      Title: Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
    4. APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects).
      Title: Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.
    5. kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients
      Title: APRT from erythrocytes of HGPRT deficient patients: kinetic, regulatory and thermostability properties.
    6. determination of structure and examination of role of deficiency in DHA-urolithiasis
      Title: Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
    7. two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency
      Title: Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Urolithiasis, 2,8-dihydroxyadenine

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P07741 P07741 APRT    HPRD  PubMed  
    BioGRID:106849 BioGRID:114089 IKBKG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106849 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106849 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the APRT gene: The APRT gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
      Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, organism-specific biosystem (from REACTOME)
      Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Purine salvage, organism-specific biosystem (from REACTOME)
      Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...
    • adenine and adenosine salvage I, organism-specific biosystem (from BIOCYC)
      adenine and adenosine salvage I, organism-specific biosystemAdenosine nucleotides can be synthesized de novo. In that route : AMP (AMP) is synthesized via : IMP (IMP) and : ADENYLOSUCC , which is converted to AMP by the action of : ASL-MONOMER (see : PWY-6126...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    AMP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    adenine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    adenine phosphoribosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    adenine salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    grooming behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    lactation IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleobase-containing small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    nucleoside metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine base metabolic process TAS
    Traceable Author Statement
    more info
    		  
    purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine-containing compound salvage TAS
    Traceable Author Statement
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    adenine phosphoribosyltransferase
    Names
    adenine phosphoribosyltransferase
    AMP diphosphorylase
    AMP pyrophosphorylase
    transphosphoribosidase
    NP_000476.1
    NP_001025189.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008013.1 RefSeqGene

      Range
      5001..7466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000485.2 → NP_000476.1  adenine phosphoribosyltransferase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BM423481, BU507629
      Consensus CDS
      CCDS32511.1
      UniProtKB/Swiss-Prot
      P07741
      Related
      ENSP00000367615, OTTHUMP00000253666, ENST00000378364, OTTHUMT00000430000
      Conserved Domains (1) summary
      cd06223
      Location:42 – 177
      Blast Score: 241
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    2. NM_001030018.1 → NP_001025189.1  adenine phosphoribosyltransferase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BM423481, BM550173
      Consensus CDS
      CCDS45546.1
      UniProtKB/TrEMBL
      G5E9J2
      Related
      ENSP00000397007, OTTHUMP00000253667, ENST00000426324, OTTHUMT00000430003
      Conserved Domains (1) summary
      cd06223
      Location:42 – 133
      Blast Score: 165
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      88875877..88878342, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      74573103..74575568, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC092384.5 (42227..44692) None
    genomic AY306126.1 AAP45051.1
    genomic CH471184.2 EAW66760.1
      EAW66761.1
    genomic HH961760.1 CBX51353.1
    genomic M16446.1 AAA51769.1
    genomic U09817.1 AAB84304.1
    genomic Y00486.1 CAA68543.1
    mRNA BC106894.2 None
    mRNA BC106895.2 None
    mRNA BC107151.2 AAI07152.1
    mRNA BM423481.1 None
    mRNA BM550173.1 None
    mRNA BU507629.1 None
    mRNA CR749423.1 CAH18261.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07741.2 GenPept UniProtKB/Swiss-Prot:P07741
    Q12898 GenPept UniProtKB/TrEMBL:Q12898
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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