Human Gene APRT (uc002flv.3) Description and Page Index
  Description: Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.
RefSeq Summary (NM_000485): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:88,875,877-88,878,342 Size: 2,466 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr16:88,876,106-88,878,307 Size: 2,202 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,875,877-88,878,342)mRNA (may differ from genome)Protein (180 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: APT_HUMAN
DESCRIPTION: RecName: Full=Adenine phosphoribosyltransferase; Short=APRT; EC=2.4.2.7;
FUNCTION: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
CATALYTIC ACTIVITY: AMP + diphosphate = adenine + 5-phospho-alpha- D-ribose 1-diphosphate.
PATHWAY: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm.
DISEASE: Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
SIMILARITY: Belongs to the purine/pyrimidine phosphoribosyltransferase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APRT";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aprt/";
WEB RESOURCE: Name=Wikipedia; Note=Adenine phosphoribosyltransferase entry; URL="http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase";

-  MalaCards Disease Associations
  MalaCards Gene Search: APRT
Diseases sorted by gene-association score: adenine phosphoribosyltransferase deficiency* (1701), lesch-nyhan syndrome (25), dihydroxyadeninuria (18), ureterolithiasis (18), gout (15), xanthinuria (13), hprt-related gout (13), hereditary xanthinuria (13), mucopolysaccharidosis iv (10), xanthinuria, type i (10), mucopolysaccharidosis iva (9), purine-pyrimidine metabolic disorder (9), nephrolithiasis (8), immunodeficiency due to purine nucleoside phosphorylase deficiency (8), familial retinoblastoma (7), interstitial nephritis (7), nephrolithiasis, calcium oxalate (6), uterine corpus serous adenocarcinoma (6), mucopolysaccharidosis-plus syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 109.23 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 2375.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.3035-0.351 Picture PostScript Text
3' UTR -91.39229-0.399 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005764 - Ade_phspho_trans
IPR000836 - PRibTrfase_dom

Pfam Domains:
PF00156 - Phosphoribosyl transferase domain

SCOP Domains:
53271 - PRTase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1OPU
- Model

1ORE
- X-ray MuPIT

1ZN7
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1ZN8 - X-ray MuPIT 1ZN9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P07741
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002055 adenine binding
GO:0003999 adenine phosphoribosyltransferase activity
GO:0016208 AMP binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological 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:0043312 neutrophil degranulation
GO:0044209 AMP salvage
GO:0046083 adenine metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  CR749423 - Homo sapiens mRNA; cDNA DKFZp686D13177 (from clone DKFZp686D13177).
JD097272 - Sequence 78296 from Patent EP1572962.
BC107151 - Homo sapiens adenine phosphoribosyltransferase, mRNA (cDNA clone MGC:129961 IMAGE:40032160), complete cds.
JD384310 - Sequence 365334 from Patent EP1572962.
JD495396 - Sequence 476420 from Patent EP1572962.
JD460151 - Sequence 441175 from Patent EP1572962.
KJ890691 - Synthetic construct Homo sapiens clone ccsbBroadEn_00085 APRT gene, encodes complete protein.
KR711523 - Synthetic construct Homo sapiens clone CCSBHm_00025174 APRT (APRT) mRNA, encodes complete protein.
KR711524 - Synthetic construct Homo sapiens clone CCSBHm_00025175 APRT (APRT) mRNA, encodes complete protein.
KR711525 - Synthetic construct Homo sapiens clone CCSBHm_00025181 APRT (APRT) mRNA, encodes complete protein.
KR711526 - Synthetic construct Homo sapiens clone CCSBHm_00025182 APRT (APRT) mRNA, encodes complete protein.
JD456160 - Sequence 437184 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
P1-PWY - purine and pyrimidine metabolism
P121-PWY - adenine and adenosine salvage I

Reactome (by CSHL, EBI, and GO)

Protein P07741 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-74213 Adenine + PRPP => AMP + PPi
R-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
R-HSA-168249 Innate Immune System
R-HSA-8956321 Nucleotide salvage
R-HSA-168256 Immune System
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: APT_HUMAN, NM_000485, NP_000476, P07741, Q3KP55, Q68DF9
UCSC ID: uc002flv.3
RefSeq Accession: NM_000485
Protein: P07741 (aka APT_HUMAN)
CCDS: CCDS32511.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene APRT:
aprt-def (Adenine Phosphoribosyltransferase Deficiency)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000485.2
exon count: 5CDS single in 3' UTR: no RNA size: 807
ORF size: 543CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1286.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.