InnateDB Protein
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IDBP-2274.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PNP
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Protein Name
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purine nucleoside phosphorylase
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Synonyms
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NP; PRO1837; PUNP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354532
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InnateDB Gene
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IDBG-2272 (PNP)
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Protein Structure
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Function |
The purine nucleoside phosphorylases catalyze 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. {ECO:0000269PubMed:2104852}.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:22509282}.
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Disease Associations |
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:0000269PubMed:1384322, ECO:0000269PubMed:3029074, ECO:0000269PubMed:8931706}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. {ECO:0000269PubMed:22509282}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
28
[view]
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Protein-Protein |
27
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000845
Nucleoside phosphorylase domain
IPR011268
Purine nucleoside phosphorylase
IPR011270
Purine nucleoside phosphorylase I, inosine/guanosine-specific
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PFAM |
PF01048
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PRINTS |
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PIRSF |
PIRSF000477
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P00491
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PhosphoSite |
PhosphoSite-P00491
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TrEMBL |
V9HWH6
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UniProt Splice Variant |
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Entrez Gene |
4860
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UniGene |
Hs.75514
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RefSeq |
NP_000261
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HUGO |
HGNC:7892
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OMIM |
164050
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CCDS |
CCDS9552
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HPRD |
01247
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IMGT |
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EMBL |
AF116670
AK098544
AK313490
AL355075
AY817667
BC104206
BC104207
BC106074
CH471078
CR407607
EU794649
J02672
M13951
M13952
M13953
X00737
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GenPept |
AAA36460
AAF71090
AAI04207
AAI04208
AAI06075
AAV68044
ACJ13703
BAC05327
BAG36272
CAA25320
CAG28535
EAW66458
EAW66459
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