Reactome | PDGFRA Y288C [endoplasmic reticulum membrane]

PDGFRA Y288C [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-9671971

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Alpha platelet-derived growth factor receptor, PGDS_HUMAN

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Literature References

PubMed ID	Title	Journal	Year
30389923	Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies Vellano, CP, Scott, KL, Ju, Z, Jeong, KJ, Shao, SH, Leonard, PG, Woessner, R, Mills, GB, Sahni, N, Ip, CKM, Hua, X, Ng, PKS	Nat Commun	2018

External Reference Information

External Reference

UniProt:P16234 PDGFRA

Gene Names

PDGFRA, PDGFR2, RHEPDGFRA

Chain

signal peptide:1-23, chain:24-1089

Reference Genes

BioGPS Gene:5156 PDGFRA

COSMIC (genes):PDGFRA PDGFRA

CTD Gene:5156 PDGFRA

dbSNP Gene:5156 PDGFRA

ENSEMBL:ENSG00000134853 PDGFRA

HGNC:8803 PDGFRA

KEGG:hsa:5156 PDGFRA

Monarch:5156 PDGFRA

NCBI Gene:5156 PDGFRA

OMIM:173490 PDGFRA

UCSC:P16234 PDGFRA

Reference Transcript

Participates

as a member of

PDGFRA extracellular domain mutants [endoplasmic reticulum membrane] (Homo sapiens)

as a component of

PDGFRA Y288C dimer [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

PDGFRA L629P [plasma membrane]

PDGFRA N659K [plasma membrane]

PDGFRA T674I [plasma membrane]

PDGFRA S601P [plasma membrane]

PDGFRA Y375_K455del [endoplasmic reticulum membrane]

p-11Y PDGFRA Y288C [endoplasmic reticulum membrane]

p-11Y-PDGFRA Y375_K455del [endoplasmic reticulum membrane]

PDGFRA D842_M844del [plasma membrane]

PDGFRA D842Y [plasma membrane]

PDGFRA D842V [plasma membrane]

PDGFRA I843_D846del [plasma membrane]

PDGFRA D842_H845del [plasma membrane]

PDGFRA D842del [plasma membrane]

PDGFRA D842_I843delinsV [plasma membrane]

PDGFRA D846Y [plasma membrane]

PDGFRA D843_845del [plasma membrane]

PDGFRA D842_D846del [plasma membrane]

PDGFRA N848K [plasma membrane]

PDGFRA Y849C [plasma membrane]

PDGFRA D843_844del [plasma membrane]

PDGFRA D846V [plasma membrane]

PDGFRA D842L [plasma membrane]

PDGFRA V561D [plasma membrane]

PDGFRA V561A [plasma membrane]

PDGFRA V536E [plasma membrane]

PDGFRA V536M [plasma membrane]

p-11Y PDGFRA D842V [plasma membrane]

p-11Y PDGFRA D846Y [plasma membrane]

p-11Y-PDGFRA [plasma membrane]

PDGFRA [plasma membrane]

p-11Y PDGFRA V561A [plasma membrane]

p-11Y PDGFRA V561D [plasma membrane]

p-11Y PDGFRA V536M [plasma membrane]

p-11Y PDGFRA V536E [plasma membrane]

p-11Y PDGFRA D846V [plasma membrane]

p-11Y PDGFRA D842L dimer [plasma membrane]

p-11Y PDGFRA N848K [plasma membrane]

p-11Y PDGFRA D843_845del [plasma membrane]

p-10Y PDGFRA Y849C [plasma membrane]

p-11Y PDGFRA D842_D846del [plasma membrane]

p-11Y PDGFRA D842_H845del [plasma membrane]

p-11Y PDGFRA D842Y [plasma membrane]

p-11Y PDGFRA D843_846del [plasma membrane]

p-11Y-PDGFRA D842_I843delinsV [plasma membrane]

p-11Y PDGFRA D843_844del [plasma membrane]

p-11Y PDGFRA D842del [plasma membrane]

Modified Residues

Name

L-tyrosine 288 replaced with L-cysteine

Coordinate

288

PsiMod

L-tyrosine removal [MOD:01649]

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

L-cysteine residue [MOD:00014]

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

Disease

Name	Identifier	Synonyms
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
astrocytoma	DOID:3069	astrocytoma of Cerebrum, Astrocytic tumor, astrocytoma of brain (disorder), astroglioma, astrocytoma, no ICD-O subtype (morphologic abnormality), cerebral astrocytoma

Cross References

RefSeq

XP_005265800.1, NP_006197.1, NP_001334758.1

Guide to Pharmacology - Targets

1803

OpenTargets

ENSG00000134853

ENSEMBL

ENST00000257290, ENSP00000425648, ENST00000508170, ENSP00000257290, ENST00000509490, ENSG00000134853, ENSP00000424218

ZINC - FDA approved

PGFRA_HUMAN

ZINC - Substances

PGFRA_HUMAN

ZINC - Biogenic

PGFRA_HUMAN

ZINC target

P16234

PRO

P16234

GlyGen

P16234

PDB

1GQ5, 5K5X, 7LBF, 6A32, 7RAM, 8PQI, 8PQK, 8PQH, 8PQJ, 6JOI, 5GRN, 6JOJ, 6JOK, 6JOL

ZINC - Investigational

PGFRA_HUMAN

COSMIC

COSM7002240, COSV57264810

GeneCards

PDGFRA

HPA

ENSG00000134853-PDGFRA

Pharos - Targets

P16234

Orphanet

PDGFRA

ZINC - Predictions - Purchasable

PGFRA_HUMAN

HMDB Protein

HMDBP01355

Interactors (10)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P01127 PDGFB	8	PDGFB (82-190) [extracellular region] (R-HSA-184201) PDGFB(82-241) [extracellular region] (R-HSA-381904) PDGFB(1-241) [endoplasmic reticulum lumen] (R-HSA-381903) PDGFB(1-241) [Golgi membrane] (R-HSA-380740) PDGFB(1-81) [Golgi lumen] (R-HSA-389058) PDGFB(191-241) [Golgi lumen] (R-HSA-396945) PDGFB(21-81) [platelet alpha granule lumen] (R-HSA-184200) PDGFB(82-241) [platelet alpha granule lumen] (R-HSA-387075)	0.733	11
UniProt:P09619 PDGFRB	3	p-12Y-PDGFRB [plasma membrane] (R-HSA-186803) PDGFRB [plasma membrane] (R-HSA-186767) p-11Y-PDGFRB [plasma membrane] (R-HSA-8864039)	0.706	5
UniProt:P04085 PDGFA	1	PDGFA [extracellular region] (R-HSA-2426265)	0.691	6
UniProt:P00533 EGFR	20	p-6Y-EGFR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869138) p-5Y-EGFRvIII [plasma membrane] (R-HSA-1248649) EGFRvIII [plasma membrane] (R-HSA-1214162) p-6Y-EGFR E746_A750del;T790M [plasma membrane] (R-HSA-1182985) p-6Y-EGFR L858R;T790M [plasma membrane] (R-HSA-1182984) p-6Y-EGFR A767_V769dup [plasma membrane] (R-HSA-1996343) p-6Y-EGFR N771_H773dup [plasma membrane] (R-HSA-1996342) p-6Y-EGFR K739_I744dup [plasma membrane] (R-HSA-1996346) p-6Y-EGFR D770_N771insNPG [plasma membrane] (R-HSA-1996335) p-6Y-EGFR E746_A750del [plasma membrane] (R-HSA-1181214) p-6Y-EGFR L858R [plasma membrane] (R-HSA-1173211) p-6Y-EGFR G719S [plasma membrane] (R-HSA-1169417) p-6Y-EGFR L747_P753delinsS [plasma membrane] (R-HSA-1228038) p-6Y-EGFR L747_A750delinsP [plasma membrane] (R-HSA-1228044) p-6Y-EGFR L747_T751del [plasma membrane] (R-HSA-1228041) p-6Y-EGFR L747_S752del [plasma membrane] (R-HSA-1228040) p-6Y-EGFR L747_T751delinsP [plasma membrane] (R-HSA-1228042) p-6Y-EGFR E746_T751delinsA [plasma membrane] (R-HSA-1228037) p-6Y-EGFR E746_S752delinsV [plasma membrane] (R-HSA-1228039) p-6Y-EGFR L861Q [plasma membrane] (R-HSA-1177541)	0.683	4
UniProt:P46108 CRK	1	CRK [cytosol] (R-HSA-2980677)	0.671	4
UniProt:Q9NRA1 PDGFC			0.656	3
UniProt:P46109 CRKL	2	CRKL [cytosol] (R-HSA-354384) p-CRKL [cytosol] (R-HSA-9024730)	0.569	3
UniProt:Q8N6L0 KASH5			0.556	3
UniProt:P19174 PLCG1	6	p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [cytosol] (R-HSA-202320) PLCG1 [plasma membrane] (R-HSA-167682) p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	0.544	3
UniProt:Q8WVM8 SCFD1	1	SCFD1 [cytosol] (R-HSA-5688147)	0.483	2

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