APRT
entrez
353
canonical
uniprot
P07741
canonical
ensembl
ENSG00000198931
resolver
ensp
ENSP00000367615
resolver
ensp
ENSP00000397007
resolver
genesymbol
APRT
resolver
hgnc
HGNC:626
resolver
uniprot
G5E9J2
resolver
uniprot
Q3KP55
resolver
uniprot
Q68DF9
resolver
uniprot_entry
APT_HUMAN
resolver
uniprot_sec
G5E9J2
resolver
uniprot_sec
Q3KP55
resolver
uniprot_sec
Q68DF9
resolver
amino_acid_sequence
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
uniprot
proteins
disease_involvement
DISEASE: Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269|PubMed:11243733, ECO:0000269|PubMed:1353080, ECO:0000269|PubMed:15571218, ECO:0000269|PubMed:1746557, ECO:0000269|PubMed:21635362, ECO:0000269|PubMed:3343350, ECO:0000269|PubMed:3680503, ECO:0000269|PubMed:7915931}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.2.7
uniprot
proteins
function
FUNCTION: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. {ECO:0000269|PubMed:15196008}.
uniprot
proteins
mass_dalton
19608
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1. {ECO:0000269|PubMed:15196008}.
uniprot
proteins
protein_family
Purine/pyrimidine phosphoribosyltransferase family
uniprot
proteins
pubmed
11243733
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1353080
uniprot
proteins
pubmed
15196008
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15571218
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
1746557
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21635362
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3343350
uniprot
proteins
pubmed
3531209
uniprot
proteins
pubmed
3554238
uniprot
proteins
pubmed
3680503
uniprot
proteins
pubmed
3684585
uniprot
proteins
pubmed
7915931
uniprot
proteins
sequence_length
180
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins