PNP R234P [cytosol]

Stable Identifier
R-HSA-9735772
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
nucleoside phosphorylase, NP, Purine nucleoside phosphorylase, Inosine phosphorylase
PNP R234P [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1384322 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency

Barrett, MJ, Andrews, LG, Markert, ML, Norby-Slycord, CJ, Aust, MR

Am J Hum Genet 1992
External Reference Information
External Reference
Gene Names
PNP, NP
Chain
chain:1-289
Reference Transcript
Other Identifiers
11718400_a_at
16781536
201695_PM_s_at
201695_s_at
3527515
3527518
3527520
3527522
3527523
3527525
3527527
3527528
3527529
3527530
3527531
430_at
4860
7973067
A_23_P140256
GO:0000255
GO:0001882
GO:0002060
GO:0002376
GO:0003824
GO:0004731
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005829
GO:0006139
GO:0006148
GO:0006149
GO:0006157
GO:0006166
GO:0006204
GO:0006738
GO:0006955
GO:0007155
GO:0009116
GO:0009165
GO:0009410
GO:0016740
GO:0016757
GO:0016763
GO:0030154
GO:0031410
GO:0032743
GO:0034418
GO:0034774
GO:0042102
GO:0042301
GO:0042802
GO:0043101
GO:0043226
GO:0046059
GO:0046638
GO:0047975
GO:0048856
GO:0055086
GO:0070062
GO:1901135
GO:1904813
HMNXSV003001137
ILMN_2172174
K02574_at
PH_hs_0004336
TC14000056.hg
TC14001578.hg
g4557800_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 234 replaced with L-proline
Coordinate
234
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
purine nucleoside phosphorylase deficiency DOID:5813 deficiency of inosine phosphorylase, Purine nucleoside phosphorylase deficiency, PNP deficiency, Purine-Nucleoside Phosphorylase deficiency
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Investigational
ZINC - Metabolites
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (7)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P63000 RAC1  6 0.556 3
 UniProt:P14136 GFAP  3 0.556 3
 UniProt:P05067 APP  20 0.556 9
 UniProt:Q92673 SORL1  2 0.556 3
 UniProt:Q9BXM7 PINK1  4 0.556 3
 UniProt:P06241 FYN  6 0.556 3
 UniProt:P17612 PRKACA  4 0.556 3
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