Homo sapiens Gene: APRT
Summary
InnateDB Gene IDBG-46737.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APRT
Gene Name adenine phosphoribosyltransferase
Synonyms AMP; APRTD
Species Homo sapiens
Ensembl Gene ENSG00000198931
Encoded Proteins
adenine phosphoribosyltransferase
adenine phosphoribosyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:88809339-88811944
Strand Reverse strand
Band q24.3
Transcripts
ENST00000378364 ENSP00000367615
ENST00000426324 ENSP00000397007
ENST00000563655 ENSP00000456012
ENST00000567713 ENSP00000455749
ENST00000564858
ENST00000568319 ENSP00000456905
ENST00000568575
ENST00000569616 ENSP00000455692
ENST00000562464
ENST00000567391 ENSP00000457964
ENST00000567057
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0002055 adenine binding
GO:0003999 adenine phosphoribosyltransferase activity
GO:0016208 AMP binding
GO:0016740 transferase activity
Biological Process
GO:0006144 purine nucleobase metabolic process
GO:0006166 purine ribonucleoside salvage
GO:0006168 adenine salvage
GO:0007595 lactation
GO:0007625 grooming behavior
GO:0009116 nucleoside metabolic process
GO:0032869 cellular response to insulin stimulus
GO:0043101 purine-containing compound salvage
GO:0044209 AMP salvage
GO:0044281 small molecule metabolic process
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Purine salvage pathway
Metabolism of nucleotides pathway
Purine metabolism pathway
Metabolism pathway
KEGG
Purine metabolism pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000485 NM_001030018
HUGO
OMIM
CCDS CCDS32511 CCDS45546
HPRD 00029
IMGT
EMBL
GenPept
RNA Seq Atlas