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APRT adenine phosphoribosyltransferase [ Homo sapiens (human) ]

Gene ID: 353, updated on 19-Dec-2014
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]
See APRT in Epigenomics, MapViewer
Location:
16q24
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 piezo-type mechanosensitive ion channel component 1 Neighboring gene uncharacterized LOC339059 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene galactosamine (N-acetyl)-6-sulfatase 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 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...
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
 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
more info
 
purine nucleobase metabolic process TAS
Traceable Author Statement
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
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
adenine phosphoribosyltransferase
Names
adenine phosphoribosyltransferase
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    cd06223
    Location:42177
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
  2. NM_001030018.1NP_001025189.1  adenine phosphoribosyltransferase isoform b

    See proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

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

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

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

Alternate HuRef

Genomic

  1. AC_000148.1 

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