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MGP000177

Record overview

MGPD IDMGP000177
Gene ID353
SpeciesHomo sapiens (Human)
Gene Nameadenine phosphoribosyltransferase
Gene Symbol APRT
SynonymsAMP; APRTD;
Alternate namesadenine phosphoribosyltransferase; AMP diphosphorylase; AMP pyrophosphorylase; transphosphoribosidase;
Chromosome16
Map Location16q24
EC Number2.4.2.7;
SummaryAdenine 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]
OrthologsView orthologs and multiple alignments for APRT

Proteins

adenine phosphoribosyltransferase isoform a
Refseq ID:NP_000476
Protein GI:4502171
UniProt ID:P07741
mRNA ID:NM_000485
Length:180
RefSeq Status:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWAS
YSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
 
adenine phosphoribosyltransferase isoform b
Refseq ID:NP_001025189
Protein GI:71773201
UniProt ID:P07741
mRNA ID:NM_001030018
Length:134
RefSeq Status:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWAS
YSLEYGKAELEIQKDALEPGQRVVVVDDLLATGV
 
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