PNP
entrez
4860
canonical
uniprot
P00491
canonical
ensembl
ENSG00000198805
resolver
ensembl
ENSG00000291814
resolver
ensp
ENSP00000354532
resolver
ensp
ENSP00000513359
resolver
ensp
ENSP00000517384
resolver
ensp
ENSP00000517386
resolver
enst
ENST00000361505
resolver
enst
ENST00000697613
resolver
enst
ENST00000708853
resolver
enst
ENST00000708857
resolver
genesymbol
PNP
resolver
genesymbol_syn
NP
resolver
hgnc
HGNC:7892
resolver
uniprot
B2R8S5
resolver
uniprot
D3DS00
resolver
uniprot
Q15160
resolver
uniprot
Q5PZ03
resolver
uniprot_entry
PNPH_HUMAN
resolver
uniprot_sec
B2R8S5
resolver
uniprot_sec
D3DS00
resolver
uniprot_sec
Q15160
resolver
uniprot_sec
Q5PZ03
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 5'-deaza-1'-aza-2c-deoxy-1'-(9-methylene)-Immucilin-G (DADMe-ImmG). {ECO:0000269|PubMed:23438750}.
uniprot
proteins
amino_acid_sequence
MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS
uniprot
proteins
disease_involvement
DISEASE: Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269|PubMed:1384322, ECO:0000269|PubMed:3029074, ECO:0000269|PubMed:8931706}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.2.1
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:23438750, PubMed:3029074, PubMed:9305964). Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964). {ECO:0000269|PubMed:23438750, ECO:0000269|PubMed:3029074, ECO:0000269|PubMed:9305964}.
uniprot
proteins
mass_dalton
32118
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="H->W: Reduces catalytic activity towards inosine."; /evidence="ECO:0000269|PubMed:23438750"; MUTAGEN 201; /note="E->A,Q: Severe loss of catalytic activity."; /evidence="ECO:0000269|PubMed:9305964"; MUTAGEN 243; /note="N->A: Reduces catalytic activity."; /evidence="ECO:0000269|PubMed:9305964"; MUTAGEN 243; /note="N->D: Reduces catalytic activity towards inosine, hypoxanthine, guanosine and guanine. Increases catalytic activity towards adenosine and adenine."; /evidence="ECO:0000269|PubMed:9305964"; MUTAGEN 257; /note="H->W: Reduces catalytic activity towards inosine."; /evidence="ECO:0000269|PubMed:23438750
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; purine nucleoside salvage. {ECO:0000269|PubMed:9305964}.
uniprot
proteins
protein_family
PNP/MTAP phosphorylase family
uniprot
proteins
pubmed
12928150
uniprot
proteins
pubmed
1384322
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14706628
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1763067
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
2104852
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22509282
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23438750
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3029074
uniprot
proteins
pubmed
6087295
uniprot
proteins
pubmed
8931706
uniprot
proteins
pubmed
9305964
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:22509282, ECO:0000305|PubMed:3029074}.
uniprot
proteins