Reactome | PNP E89K [cytosol]

PNP E89K [cytosol]

Stable Identifier

R-HSA-9735781

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

nucleoside phosphorylase, NP, Purine nucleoside phosphorylase, Inosine phosphorylase

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Literature References

PubMed ID	Title	Journal	Year
3029074	A human purine nucleoside phosphorylase deficiency caused by a single base change Williams, SR, Gekeler, V, McIvor, RS, Martin, Jr, DW	J Biol Chem	1987

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

ENSEMBL_homo_sapiens_GENE:ENSG00000198805.13 PNP

ENSEMBL_homo_sapiens_GENE:ENSG00000291814.1 PNP

HGNC:7892 PNP

KEGG Gene (Homo sapiens):4860 PNP

Monarch:4860 PNP

NCBI Gene:4860 PNP

OMIM:164050 PNP

Reference Transcript

RefSeq:NM_000270.3 PNP

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

as a component of

PNP E89K trimer [cytosol] (Homo sapiens)

Other forms of this molecule

PNP R234P [cytosol]

PNP D128G [cytosol]

PNP [secretory granule lumen]

PNP [extracellular region]

PNP [ficolin-1-rich granule lumen]

PNP [cytosol]

Modified Residues

Name

L-glutamic acid 89 replaced with L-lysine

Coordinate

PsiMod

L-lysine residue [MOD:00021]

A protein modification that effectively converts a source amino acid residue to L-lysine.

L-glutamic acid removal [MOD:01636]

A protein modification that effectively removes or replaces an L-glutamic acid.

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

NP_000261.2

Guide to Pharmacology - Targets

2841

OpenTargets

ENSG00000198805

ZINC - Substances

PNPH_HUMAN

ZINC target

P00491

ZINC - Biogenic

PNPH_HUMAN

PRO

P00491

PDB

3PHB, 2OC9, 1RCT, 7ZSP, 2A0Y, 3BGS, 1YRY, 1ULA, 3INY, 1ULB, 2Q7O, 1PF7, 7ZSO, 1PWY, 7ZSN, 4EB8, 1V45, 2A0W, 1V2H, 1M73, 2OC4, 7ZSM, 2A0X, 1RFG, 1V3Q, 4EAR, 3GB9, 7ZSL, 4ECE, 4GKA, 5ETJ, 3K8Q, 1RR6, 5UGF, 3D1V, 1RT9, 1RSZ, 3K8O, 2ON6, 1V41, 3GGS

ZINC - Investigational

PNPH_HUMAN

ZINC - Metabolites

PNPH_HUMAN

HPA

ENSG00000198805-PNP

GeneCards

P00491

Ensembl

ENSG00000198805, ENST00000361505, ENST00000697613, ENSP00000513359, ENSP00000354532

Pharos - Targets

P00491

ZINC - Predictions - Purchasable

PNPH_HUMAN

Orphanet

16560

HMDB Protein

HMDBP03752

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P06241 FYN	6	p-S21,Y420-FYN [cytosol] (R-HSA-5218745) p-Y531-FYN [cytosol] (R-HSA-391819) MyrG2-PalmC3,6-FYN [plasma membrane] (R-HSA-9606873) p-Y420-FYN [cytosol] (R-HSA-391821) MyrG-p-Y420-FYN [plasma membrane] (R-HSA-1810410) FYN [cytosol] (R-HSA-200917)	0.556	3
UniProt:P05067 APP	20	APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-687) [extracellular region] (R-HSA-9010033) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [endosome lumen] (R-HSA-5229077) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(672-711) [extracellular region] (R-HSA-976740) APP(672-711) [cytosol] (R-HSA-877188) APP(672-713) [extracellular region] (R-HSA-879340)	0.556	9
UniProt:Q9BXM7 PINK1	5	p-S228,S402-PINK1 [mitochondrial outer membrane] (R-HSA-9834051) PINK1 [mitochondrial outer membrane] (R-HSA-5205653) PINK1 [mitochondrial intermembrane space] (R-HSA-5205671) PINK1 [cytosol] (R-HSA-5205637) PINK1(111-581) [mitochondrial intermembrane space] (R-HSA-5205628)	0.556	3
UniProt:P17612 PRKACA	4	PRKACA [mitochondrial matrix] (R-HSA-9838291) PRKACA [ciliary base] (R-HSA-5610402) PRKACA [nucleoplasm] (R-HSA-111936) PRKACA [cytosol] (R-HSA-57844)	0.556	3
UniProt:P63000 RAC1	6	RAC1 [ficolin-1-rich granule membrane] (R-HSA-6804802) RAC1 [secretory granule membrane] (R-HSA-6804770) GGC-PalmC-RAC1 [plasma membrane] (R-HSA-2316446) RAC1 [endoplasmic reticulum membrane] (R-HSA-5672076) RAC1 [cytosol] (R-HSA-442615) RAC1 [plasma membrane] (R-HSA-351141)	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:Q92673 SORL1	2	SORL1 [endosome membrane] (R-HSA-8871475) SORL1 [Golgi membrane] (R-HSA-8871510)	0.556	3

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