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:ENSG00000134853.12 PDGFRA

HGNC:8803 PDGFRA

KEGG Gene (Homo sapiens):5156 PDGFRA

Monarch:5156 PDGFRA

NCBI Gene:5156 PDGFRA

OMIM:173490 PDGFRA

UCSC:P16234 PDGFRA

Reference Transcript

Other Identifiers

0003190059

11743850_at

11750772_a_at

11760753_a_at

11762023_at

1554828_PM_at

1554828_at

16966809

1731_at

1968_g_at

1987_at

203131_PM_at

203131_at

215305_PM_at

215305_at

2727350

2727370

2727372

2727373

2727374

2727375

2727376

2727377

2727378

2727380

2727381

2727382

2727383

2727386

2727387

2727388

2727389

2727391

2727393

2727395

2727396

2727397

2727398

2727401

2727402

2727403

2727404

2727406

2727407

2727408

2727411

2727413

2727414

2727415

5156

8095080

84284_at

A_14_P111616

A_14_P125923

A_23_P300033

A_23_P332536

GE57864

GO:0000166

GO:0001553

GO:0001701

GO:0001775

GO:0002244

GO:0002376

GO:0004672

GO:0004713

GO:0004714

GO:0005018

GO:0005021

GO:0005161

GO:0005515

GO:0005524

GO:0005622

GO:0005634

GO:0005654

GO:0005737

GO:0005783

GO:0005789

GO:0005794

GO:0005886

GO:0005887

GO:0005902

GO:0005929

GO:0006468

GO:0006629

GO:0006935

GO:0007010

GO:0007155

GO:0007169

GO:0007204

GO:0008210

GO:0008284

GO:0008585

GO:0009653

GO:0009887

GO:0009897

GO:0009986

GO:0010544

GO:0010863

GO:0014068

GO:0016020

GO:0016021

GO:0016301

GO:0016310

GO:0016477

GO:0016740

GO:0018108

GO:0019838

GO:0022414

GO:0023019

GO:0023052

GO:0030054

GO:0030154

GO:0030198

GO:0030324

GO:0030325

GO:0030335

GO:0030539

GO:0031226

GO:0032991

GO:0033327

GO:0033674

GO:0034614

GO:0035790

GO:0036211

GO:0038084

GO:0038085

GO:0038091

GO:0042060

GO:0042327

GO:0042475

GO:0042803

GO:0042995

GO:0043226

GO:0043235

GO:0043410

GO:0043552

GO:0046777

GO:0048008

GO:0048015

GO:0048146

GO:0048407

GO:0048557

GO:0048701

GO:0048704

GO:0048705

GO:0048856

GO:0048870

GO:0050872

GO:0050920

GO:0055003

GO:0055065

GO:0060021

GO:0060089

GO:0060325

GO:0060326

GO:0061298

GO:0062063

GO:0070374

GO:0070527

GO:0071230

GO:0072277

GO:0140096

GO:2000249

GO:2000739

HMNXSV003051985

HMNXSV003054613

Hs.166074.0.S1_3p_at

Hs2.74615.2.A1_3p_at

Hs2.74615.2.A1_3p_s_at

ILMN_1681949

ILMN_2086470

M21574_at

PH_hs_0004257

TC04002931.hg

g5453869_3p_at

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 del375-455 [endoplasmic reticulum membrane]

p-11Y PDGFRA Y288C [endoplasmic reticulum membrane]

p-11Y PDGFRA del375-455 [endoplasmic reticulum membrane]

PDGFRA D842_M844del [plasma membrane]

PDGFRA D842Y [plasma membrane]

PDGFRA D842V [plasma membrane]

PDGFRA D843_846del [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 D842del [plasma membrane]

p-11Y PDGFRA D843_844del [plasma membrane]

p-11Y PDGFRA D842_I843delinsV [plasma membrane]

p-11Y PDGFRA D843_846del [plasma membrane]

p-11Y PDGFRA D842Y [plasma membrane]

p-11Y PDGFRA D842_H845del [plasma membrane]

p-11Y PDGFRA D842_D846del [plasma membrane]

p-10Y PDGFRA Y849C [plasma membrane]

p-11Y PDGFRA D843_845del [plasma membrane]

p-11Y PDGFRA N848K [plasma membrane]

p-11Y PDGFRA D842L dimer [plasma membrane]

p-11Y PDGFRA D846V [plasma membrane]

p-11Y PDGFRA V536E [plasma membrane]

p-11Y PDGFRA V536M [plasma membrane]

p-11Y PDGFRA V561D [plasma membrane]

p-11Y PDGFRA V561A [plasma membrane]

PDGFRA [plasma membrane]

p-11Y-PDGFRA [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

NP_006197.1, XP_005265800.1, NP_001334758.1

ZINC - World Drugs

PGFRA_HUMAN

Guide to Pharmacology - Targets

1803

OpenTargets

ENSG00000134853

ZINC - FDA approved

PGFRA_HUMAN

ZINC - Substances

PGFRA_HUMAN

ZINC target

P16234

ZINC - Biogenic

PGFRA_HUMAN

PRO

P16234

PDB

5GRN, 7LBF, 6JOJ, 1GQ5, 6JOI, 6JOL, 6A32, 6JOK, 5K5X

ZINC - Investigational

PGFRA_HUMAN

COSMIC

COSM7002240, COSV57264810

HPA

ENSG00000134853-PDGFRA

GeneCards

P16234

Ensembl

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

Pharos - Targets

P16234

ZINC - Predictions - Purchasable

PGFRA_HUMAN

Orphanet

16629

HMDB Protein

HMDBP01355

Interactors (10)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P01127 PDGFB	8	PDGFB(82-241) [platelet alpha granule lumen] (R-HSA-387075) PDGFB(21-81) [platelet alpha granule lumen] (R-HSA-184200) PDGFB(191-241) [Golgi lumen] (R-HSA-396945) PDGFB(1-81) [Golgi lumen] (R-HSA-389058) PDGFB(1-241) [Golgi membrane] (R-HSA-380740) PDGFB(1-241) [endoplasmic reticulum lumen] (R-HSA-381903) PDGFB(82-241) [extracellular region] (R-HSA-381904) PDGFB (82-190) [extracellular region] (R-HSA-184201)	0.733	11
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 M766_A767insASV [plasma membrane] (R-HSA-1996343) p-6Y-EGFR D770_N771insNPH [plasma membrane] (R-HSA-1996342) p-6Y-EGFR V738_K739insKIPVAI [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:P09619 PDGFRB	3	p-11Y-PDGFRB [plasma membrane] (R-HSA-8864039) PDGFRB [plasma membrane] (R-HSA-186767) p-12Y-PDGFRB [plasma membrane] (R-HSA-186803)	0.615	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 [plasma membrane] (R-HSA-167682) PLCG1 [cytosol] (R-HSA-202320) 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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