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PNP D128G [cytosol]
Stable Identifier
R-HSA-9735785
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
nucleoside phosphorylase, NP, Purine nucleoside phosphorylase, Inosine phosphorylase
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of nucleotide metabolism (Homo sapiens)
Nucleotide catabolism defects (Homo sapiens)
Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine (Homo sapiens)
Defective PNP does not convert (deoxy)guanosine to guanine and (deoxy)ribose (Homo sapiens)
PNP trimer mutants [cytosol] (Homo sapiens)
PNP D128G trimer [cytosol] (Homo sapiens)
PNP D128G [cytosol] (Homo sapiens)
Defective PNP does not convert (deoxy)inosine to hypoxanthine and (deoxy)ribose (Homo sapiens)
PNP trimer mutants [cytosol] (Homo sapiens)
PNP D128G trimer [cytosol] (Homo sapiens)
PNP D128G [cytosol] (Homo sapiens)
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
UniProt:P00491 PNP
Gene Names
PNP, NP
Chain
chain:1-289
Reference Genes
BioGPS Gene:4860 PNP
COSMIC (genes):PNP PNP
CTD Gene:4860 PNP
dbSNP Gene:4860 PNP
ENSEMBL:ENSG00000198805 PNP
HGNC:7892 PNP
KEGG:hsa:4860 PNP
Monarch:4860 PNP
NCBI Gene:4860 PNP
OMIM:164050 PNP
UCSC:P00491 PNP
Reference Transcript
RefSeq:NM_000270.3 PNP
Other Identifiers
11718400_a_at
16781536
201695_PM_s_at
201695_s_at
3527515
3527516
3527517
3527518
3527519
3527520
3527521
3527522
3527523
3527524
3527525
3527527
3527528
3527529
3527530
3527531
430_at
4860
7973067
A_14_P105467
A_23_P140256
GO:0000255
GO:0001882
GO:0002060
GO:0002376
GO:0003824
GO:0004731
GO:0005515
GO:0005576
GO:0005737
GO:0005829
GO:0006139
GO:0006148
GO:0006149
GO:0006157
GO:0006166
GO:0006204
GO:0006738
GO:0006955
GO:0009116
GO:0009165
GO:0009410
GO:0016740
GO:0016757
GO:0016763
GO:0032743
GO:0034418
GO:0034774
GO:0042102
GO:0042301
GO:0042802
GO:0043101
GO:0043226
GO:0046059
GO:0046638
GO:0047975
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
as a component of
PNP D128G trimer [cytosol] (Homo sapiens)
Other forms of this molecule
PNP [secretory granule lumen]
PNP [extracellular region]
PNP [ficolin-1-rich granule lumen]
PNP [cytosol]
PNP E89K [cytosol]
PNP R234P [cytosol]
Modified Residues
Name
L-aspartic acid 128 replaced with glycine
Coordinate
128
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
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
Guide to Pharmacology - Targets
2841
OpenTargets
ENSG00000198805
ENSEMBL
ENST00000361505
,
ENST00000697613
,
ENST00000708857
,
ENSP00000517386
,
ENSP00000354532
,
ENSP00000513359
,
ENST00000708853
,
ENSP00000517384
ZINC - Substances
PNPH_HUMAN
ZINC - Biogenic
PNPH_HUMAN
ZINC target
P00491
PRO
P00491
GlyGen
P00491
PDB
3GGS
,
1PWY
,
1PF7
,
1RT9
,
1RR6
,
2A0X
,
2A0W
,
4ECE
,
7ZSP
,
1RCT
,
2OC9
,
4GKA
,
1RFG
,
1RSZ
,
1V3Q
,
2ON6
,
1V41
,
1V45
,
3GB9
,
4EAR
,
1ULA
,
2OC4
,
1ULB
,
5ETJ
,
3D1V
,
3INY
,
2Q7O
,
3K8Q
,
2A0Y
,
3PHB
,
3BGS
,
4EB8
,
1YRY
,
7ZSO
,
7ZSL
,
5UGF
,
3K8O
,
7ZSM
,
1V2H
,
1M73
,
7ZSN
ZINC - Investigational
PNPH_HUMAN
ZINC - Metabolites
PNPH_HUMAN
HPA
ENSG00000198805-PNP
Pharos - Targets
P00491
Orphanet
PNP
ZINC - Predictions - Purchasable
PNPH_HUMAN
HMDB Protein
HMDBP03752
Interactors (7)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q92673 SORL1
2
SORL1 [endosome membrane]
(R-HSA-8871475)
SORL1 [Golgi membrane]
(R-HSA-8871510)
0.556
3
UniProt:P17612 PRKACA
4
PRKACA [cytosol]
(R-HSA-57844)
PRKACA [nucleoplasm]
(R-HSA-111936)
PRKACA [ciliary base]
(R-HSA-5610402)
PRKACA [mitochondrial matrix]
(R-HSA-9838291)
0.556
3
UniProt:P14136 GFAP
3
p-GFAP [lysosomal membrane]
(R-HSA-9626054)
GFAP [lysosomal membrane]
(R-HSA-9625195)
GFAP [cytosol]
(R-HSA-1253311)
0.556
3
UniProt:P63000 RAC1
6
RAC1 [plasma membrane]
(R-HSA-351141)
RAC1 [cytosol]
(R-HSA-442615)
GGC-PalmC-RAC1 [plasma membrane]
(R-HSA-2316446)
RAC1 [ficolin-1-rich granule membrane]
(R-HSA-6804802)
RAC1 [secretory granule membrane]
(R-HSA-6804770)
RAC1 [endoplasmic reticulum membrane]
(R-HSA-5672076)
0.556
3
UniProt:P05067 APP
20
APP(672-713) [extracellular region]
(R-HSA-879340)
APP(672-711) [cytosol]
(R-HSA-877188)
APP(672-711) [extracellular region]
(R-HSA-976740)
APP [endoplasmic reticulum lumen]
(R-HSA-8956696)
p-APP [endoplasmic reticulum lumen]
(R-HSA-8957012)
APP(18-770) [endosome lumen]
(R-HSA-5229077)
APP(672-711) [endosome lumen]
(R-HSA-6783333)
APP(672-713) [endosome lumen]
(R-HSA-5692993)
APP(672-770) [endosome lumen]
(R-HSA-9010082)
APP(712-770) [endosome lumen]
(R-HSA-6783331)
APP(714-770) [endosome lumen]
(R-HSA-6783325)
APP(18-671) [endosome lumen]
(R-HSA-5693003)
APP(18-770) [plasma membrane]
(R-HSA-9010038)
APP(18-770) [Golgi lumen]
(R-HSA-8871509)
APP(688-770) [plasma membrane]
(R-HSA-9010028)
APP(18-687) [extracellular region]
(R-HSA-9010033)
APP(18-770) [platelet alpha granule lumen]
(R-HSA-139835)
APP(18-770) [extracellular region]
(R-HSA-49335)
APP-C99 [cytosol]
(R-HSA-9617603)
APP(18-770) [trans-Golgi network membrane]
(R-HSA-5229136)
0.556
9
UniProt:P06241 FYN
6
FYN [cytosol]
(R-HSA-200917)
MyrG-p-Y420-FYN [plasma membrane]
(R-HSA-1810410)
p-Y420-FYN [cytosol]
(R-HSA-391821)
MyrG2-PalmC3,6-FYN [plasma membrane]
(R-HSA-9606873)
p-Y531-FYN [cytosol]
(R-HSA-391819)
p-S21,Y420-FYN [cytosol]
(R-HSA-5218745)
0.556
3
UniProt:Q9BXM7 PINK1
5
PINK1(111-581) [mitochondrial intermembrane space]
(R-HSA-5205628)
PINK1 [cytosol]
(R-HSA-5205637)
PINK1 [mitochondrial intermembrane space]
(R-HSA-5205671)
PINK1 [mitochondrial outer membrane]
(R-HSA-5205653)
p-S228,S402-PINK1 [mitochondrial outer membrane]
(R-HSA-9834051)
0.556
3
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