Official symbol | PNP |
Gene id | 4860 |
Organism | Homo sapiens |
Official full symbol | purine nucleoside phosphorylase |
Gene type | protein-coding |
Also known as | NP, PRO1837, PUNP |
Summary | This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. |
Genomic regions | Chromosome 14 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PNP-201 | ENST00000361505.10 | 1477 | 289aa | Protein coding | CCDS9552 | P00491 V9HWH6 | NM_000270.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PNP-203 | ENST00000553591.1 | 770 | 221aa | Protein coding | - | G3V5M2 | - | CDS 3' incomplete, TSL:5, |
PNP-202 | ENST00000553418.5 | 557 | 93aa | Protein coding | - | G3V2H3 | - | CDS 3' incomplete, TSL:3, |
PNP-205 | ENST00000554065.1 | 554 | 61aa | Protein coding | - | G3V393 | - | CDS 3' incomplete, TSL:4, |
PNP-207 | ENST00000556754.1 | 2573 | No protein | Retained intron | - | - | - | TSL:2, |
PNP-204 | ENST00000554056.5 | 1635 | No protein | Retained intron | - | - | - | TSL:5, |
PNP-206 | ENST00000556293.5 | 1023 | No protein | Retained intron | - | - | - | TSL:1, |
PNP-208 | ENST00000557229.5 | 992 | No protein | Retained intron | - | - | - | TSL:1, |
Target Gene | PNP |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PNP had been KO in hek293t cell line. |
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