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    APRT adenine phosphoribosyltransferase [ Homo sapiens (human) ]

    Gene ID: 353, updated on 14-Aug-2016
    Official Symbol
    APRTprovided by HGNC
    Official Full Name
    adenine phosphoribosyltransferaseprovided by HGNC
    Primary source
    HGNC: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; APRTD
    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]
    Orthologs
    Location:
    16q24
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (88809469..88811934, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88875877..88878342, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984842 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene galactosamine (N-acetyl)-6-sulfatase Neighboring gene proline-rich proteoglycan 2-like Neighboring gene uncharacterized LOC107983950 Neighboring gene trafficking protein particle complex 2 like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 biosystemBackground Adenosine nucleotides can be synthesized de novo. In that route : AMP is synthesized via : IMP and : ADENYLOSUCC, which is converted to AMP by the action of : CPLX66-363 (see : PWY-7219)....
    • superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
      superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC125856, MGC125857, MGC129961, DKFZp686D13177

    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
     
    Process Evidence Code Pubs
    AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    adenine salvage IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    lactation IEA
    Inferred from Electronic Annotation
    more info
     
    purine-containing compound salvage TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    adenine phosphoribosyltransferase
    Names
    AMP diphosphorylase
    AMP pyrophosphorylase
    transphosphoribosidase
    NP_000476.1
    NP_001025189.1

    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_000485.2NP_000476.1  adenine phosphoribosyltransferase isoform a

      See identical proteins and their annotated locations for NP_000476.1

      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
      TIGR01090
      Location:9179
      apt; adenine phosphoribosyltransferase
    2. NM_001030018.1NP_001025189.1  adenine phosphoribosyltransferase isoform b

      See identical proteins and their annotated locations for NP_001025189.1

      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/Swiss-Prot
      P07741
      Related
      ENSP00000397007, OTTHUMP00000253667, ENST00000426324, OTTHUMT00000430003
      Conserved Domains (1) summary
      cd06223
      Location:42133
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      88809469..88811934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      90287144..90289609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)