U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    APRT adenine phosphoribosyltransferase [ Homo sapiens (human) ]

    Gene ID: 353, updated on 7-Sep-2023

    Summary

    Official Symbol
    APRTprovided by HGNC
    Official Full Name
    adenine phosphoribosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:626
    See related
    Ensembl:ENSG00000198931 MIM:102600; AllianceGenome:HGNC:626
    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]
    Expression
    Ubiquitous expression in colon (RPKM 38.8), appendix (RPKM 37.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APRT in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88809339..88811928, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94879859..94882448, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88875747..88878336, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene piezo type mechanosensitive ion channel component 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88810272-88810958 Neighboring gene uncharacterized LOC339059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88829625-88830384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88830385-88831146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88834041-88834626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88834627-88835210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88835211-88835794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88836379-88836962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88836963-88837546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88842592-88843342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88850859-88851772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88856742-88857272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88869451-88870026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88870745-88871628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88871629-88872511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88873249-88873762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88876670-88877205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88878711-88879395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88879396-88880079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88882597-88883098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88883099-88883598 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene galactosamine (N-acetyl)-6-sulfatase Neighboring gene uncharacterized LOC107983950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88930168-88930918 Neighboring gene trafficking protein particle complex subunit 2L Neighboring gene PABPN1 like, cytoplasmic

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC125856, MGC125857, MGC129961, DKFZp686D13177

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables AMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in AMP salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in GMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in IMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    adenine phosphoribosyltransferase
    Names
    AMP diphosphorylase
    AMP pyrophosphorylase
    transphosphoribosidase
    NP_000476.1
    NP_001025189.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5007..7596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000485.3NP_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)
      AC092384, BM423481, BU507629
      Consensus CDS
      CCDS32511.1
      UniProtKB/Swiss-Prot
      G5E9J2, P07741, Q3KP55, Q68DF9
      UniProtKB/TrEMBL
      H3BQZ9
      Related
      ENSP00000367615.3, ENST00000378364.8
      Conserved Domains (1) summary
      TIGR01090
      Location:9179
      apt; adenine phosphoribosyltransferase
    2. NM_001030018.2NP_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
      UniProtKB/TrEMBL
      H3BQB1
      Related
      ENSP00000397007.2, ENST00000426324.6
      Conserved Domains (1) summary
      cl00309
      Location:9133
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      88809339..88811928 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      94879859..94882448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)