RBCC Red Blood Cell Collection

PNPH_HUMAN

Source: hRBCD ; ID: IPI00017672
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: PNP , NP
Protein names and data: PNPH_HUMAN , Purine nucleoside phosphorylase; PNP; 2.4.2.1 , Inosine phosphorylase; Inosine-guanosine phosphorylase Lenght: 289 a.a.
Mass: 32118 Da
fasta formatted sequence
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.
Catalytic activity: Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate.
Pathway: Purine metabolism; purine nucleoside salvage.
Disease: ( OMIM: 164050 613179 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm.
Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology.

Genetic variants

51 - 51 G -> S (in dbSNP:rs1049564). VAR_002243 1049564
89 - 89 E -> K (in PNPD). VAR_002244
128 - 128 D -> G (in PNPD). VAR_002245
174 - 174 A -> P (in PNPD). VAR_002246
192 - 192 Y -> C (in PNPD). VAR_010653
234 - 234 R -> P (in PNPD). VAR_002247

Database cross-references

UniProt: P00491
Ensembl: ENST00000361505
MIM: 164050
MIM: 613179
neXtProt: NX_P00491
Antibodypedia: P00491 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2