Reactome | NF1 C845Vfs*33 [cytosol]

NF1 C845Vfs*33 [cytosol]

Stable Identifier

R-HSA-9647486

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Oncogenic MAPK signaling (Homo sapiens)
    - RAS signaling downstream of NF1 loss-of-function variants (Homo sapiens)
      - Loss-of-function NF1 variants don't stimulate RAS GTPase activity (Homo sapiens)
        
        NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane] (Homo sapiens)
        
        NF1 GTPase mutants [cytosol] (Homo sapiens)
        
        NF1 C845Vfs*33 [cytosol] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
22962301	Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma Gimenez-Roqueplo, AP, Burnichon, N, Favier, J, Buffet, A, Pasmant, E, Abermil, N, Parfait, B, Letouzé, E, Laurendeau, I, Vidaud, D, Bertherat, J, Loriot, C, Valeyrie-Allanore, L, Amar, L	Hum. Mol. Genet.	2012

External Reference Information

External Reference

UniProt:P21359 NF1

Gene Names

NF1

Chain

initiator methionine:, chain:2-2839, chain:2-1305

Reference Genes

BioGPS Gene:4763 NF1

COSMIC (genes):NF1 NF1

CTD Gene:4763 NF1

dbSNP Gene:4763 NF1

ENSEMBL:ENSG00000196712 NF1

ENSEMBL_homo_sapiens_GENE:ENSG00000196712.20 NF1

HGNC:7765 NF1

KEGG Gene (Homo sapiens):4763 NF1

Monarch:4763 NF1

NCBI Gene:4763 NF1

OMIM:613113 NF1

UCSC:P21359 NF1

Reference Transcript

Other Identifiers

11731351_at

11739222_a_at

11739223_s_at

11739224_x_at

11739225_a_at

11739226_s_at

11741947_x_at

11741948_a_at

11741949_a_at

11745398_a_at

11751469_a_at

11752444_a_at

11752445_x_at

11758642_s_at

11759980_x_at

11763503_a_at

11763560_a_at

1236_s_at

16832920

204323_PM_x_at

204323_x_at

204325_PM_s_at

204325_s_at

210631_PM_at

210631_at

211094_PM_s_at

211094_s_at

211095_PM_at

211095_at

211914_PM_x_at

211914_x_at

212676_PM_at

212676_at

212678_PM_at

212678_at

2576364

2576372

2576378

2576384

2576388

3450594

3527040

3527063

3527067

35328_at

3612840

3612844

3612849

3612852

3612859

3716797

3717053

3717054

3717055

3717059

3717060

3717061

3717062

3717063

3717064

3717065

3717066

3717067

3717068

3717069

3717070

3717071

3717072

3717073

3717074

3717075

3717076

3717078

3717079

3717080

3717081

3717082

3717083

3717084

3717085

3717086

3717087

3717088

3717089

3717090

3717092

3717093

3717095

3717098

3717099

3717100

3717101

3717102

3717105

3717106

3717107

3717108

3717109

3717110

3717111

3717112

3717113

3717114

3717115

3717117

3717119

3717121

3717123

3717125

3717126

3717127

3717128

3717130

3717132

3717134

3717136

3717138

3717140

3717143

3717144

3717145

3717146

3717283

3717284

3717285

3800214

3800215

3800217

38289_r_at

3914708

3914709

3914725

3935682

3935683

3935685

3935686

3935689

3935692

3935693

3935696

4763

62316_at

739_at

8006239

940_g_at

961_at

A_14_P127545

A_14_P134602

A_23_P207596

A_24_P1919

A_24_P917026

D12625_at

D42072_at

GE54517

GE58128

GO:0000165

GO:0001525

GO:0001649

GO:0001656

GO:0001666

GO:0001889

GO:0001935

GO:0001937

GO:0001938

GO:0001952

GO:0001953

GO:0002376

GO:0002686

GO:0005096

GO:0005515

GO:0005634

GO:0005654

GO:0005730

GO:0005737

GO:0005829

GO:0005886

GO:0006469

GO:0006606

GO:0006886

GO:0006913

GO:0006915

GO:0007010

GO:0007154

GO:0007155

GO:0007265

GO:0007269

GO:0007405

GO:0007406

GO:0007420

GO:0007422

GO:0007507

GO:0007519

GO:0008283

GO:0008285

GO:0008289

GO:0008429

GO:0008542

GO:0008625

GO:0010468

GO:0010626

GO:0012501

GO:0014009

GO:0014010

GO:0014044

GO:0016020

GO:0016477

GO:0016525

GO:0016601

GO:0021510

GO:0021764

GO:0021897

GO:0021915

GO:0021987

GO:0022011

GO:0023052

GO:0030036

GO:0030154

GO:0030198

GO:0030199

GO:0030316

GO:0030325

GO:0030336

GO:0030424

GO:0030425

GO:0031210

GO:0032228

GO:0033024

GO:0033027

GO:0033028

GO:0033034

GO:0034330

GO:0034605

GO:0035021

GO:0036135

GO:0036211

GO:0042060

GO:0042127

GO:0042308

GO:0043065

GO:0043087

GO:0043226

GO:0043407

GO:0043408

GO:0043409

GO:0043473

GO:0043491

GO:0043525

GO:0043535

GO:0043547

GO:0045124

GO:0045671

GO:0045685

GO:0045762

GO:0045765

GO:0046580

GO:0046929

GO:0048144

GO:0048147

GO:0048169

GO:0048485

GO:0048583

GO:0048593

GO:0048708

GO:0048709

GO:0048712

GO:0048715

GO:0048745

GO:0048820

GO:0048844

GO:0048853

GO:0048856

GO:0048870

GO:0050877

GO:0050890

GO:0051402

GO:0060253

GO:0060291

GO:0061534

GO:0061535

GO:0070372

GO:0070662

GO:0070667

GO:0071887

GO:0072089

GO:0097192

GO:0097529

GO:0098597

GO:0098772

GO:0098793

GO:0098978

GO:0099175

GO:1900148

GO:1900271

GO:1904707

GO:1904738

GO:1904753

GO:1990874

GO:2000108

GO:2000647

GO:2001241

HMNXSV003013055

HMNXSV003024277

Hs.113577.0.A1_3p_at

Hs.58220.0.S1_3p_at

Hs.58220.0.S2_3p_at

ILMN_1726387

M89914_s_at

PH_hs_0005132

TC17000362.hg

g1060900_3p_at

g189159_3p_s_at

g189162_3p_a_at

g219939_3p_a_at

g219939_3p_x_at

g4557792_3p_a_at

Participates

as a candidate of

NF1 GTPase mutants [cytosol] (Homo sapiens)

Other forms of this molecule

NF1 R816* [cytosol]

NF1 F1464L [cytosol]

NF1 K1444E [cytosol]

NF1 L1187I [cytosol]

NF1 R1276P [cytosol]

NF1 R1412S [cytosol]

NF1 R2517* [cytosol]

NF1 Q616Gfs*4 [cytosol]

NF1 R2450* [cytosol]

NF1 R2637* [cytosol]

NF1 R2637Q [cytosol]

NF1 R304* [cytosol]

NF1 R1276* [cytosol]

NF1 E133Nfs*32 [cytosol]

NF1 R1276Q [cytosol]

NF1 R1276L [cytosol]

NF1 C324* [cytosol]

NF1 A131Vfs*19 [cytosol]

NF1 R1534* [cytosol]

NF1 R1241* [cytosol]

NF1 R1534Q [cytosol]

NF1 S1053* [cytosol]

NF1 E163D fs*2 [cytosol]

NF1 S980* [cytosol]

NF1 I1009Ffs*3 [cytosol]

NF1 Y489C [cytosol]

NF1 G1133Dfs*61 [cytosol]

NF1 R416* [cytosol]

NF1 R304Q [cytosol]

NF1 R416Q [cytosol]

NF1 G849E fs*29 [cytosol]

NF1 R440Q [cytosol]

NF1 R440* [cytosol]

NF1 R69Nfs*7 [cytosol]

ub-NF1(2-2839) [cytosol]

NF1(2-2839) [cytosol]

Modified Residues

Name

Replacement of residues 845 to 876 by VPLGECASSREAILAWQPIAHPWVQSVNVRVL

Disease

Name	Identifier	Synonyms
paraganglioma	DOID:0050773	chemodectoma, glomus body tumor
pheochromocytoma	DOID:0050771	phaeochromocytoma

Cross References

RefSeq

NP_001035957.1, NP_001121619.1, NP_000258.1

COSMIC

COSV62196244

OpenTargets

ENSG00000196712

HPA

ENSG00000196712-NF1

GeneCards

P21359

Ensembl

ENSP00000348498, ENSP00000412921, ENST00000356175, ENST00000431387, ENST00000358273, ENSP00000491589, ENST00000487476, ENSP00000351015, ENSG00000196712

PRO

P21359

Pharos - Targets

P21359

Orphanet

16542

PDB

7PGR, 3P7Z, 8E20, 7MOC, 2E2X, 7PGS, 6V65, 8EDL, 7PGT, 8EDM, 2D4Q, 7PGU, 7MP5, 8EDN, 3PG7, 6OB2, 7MP6, 6V6F, 8EDO, 1NF1, 3PEG, 7PGP, 7R04, 6OB3, 7R03, 7PGQ

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q04917 YWHAH	1	YWHAH [cytosol] (R-HSA-1445107)	0.671	4
UniProt:P31946 YWHAB	1	YWHAB [cytosol] (R-HSA-48888)	0.671	4
UniProt:P01112 HRAS	20	HRAS Q61R [plasma membrane] (R-HSA-6802458) HRAS Q61L [plasma membrane] (R-HSA-6802452) HRAS Q61K [plasma membrane] (R-HSA-6802442) HRAS G13R [plasma membrane] (R-HSA-6802368) HRAS G12V [plasma membrane] (R-HSA-6802350) HRAS G12S [plasma membrane] (R-HSA-6802343) HRAS T58I [plasma membrane] (R-HSA-9656014) HRAS G13C [plasma membrane] (R-HSA-9656008) HRAS K117R [plasma membrane] (R-HSA-9656010) HRAS G13V [plasma membrane] (R-HSA-9656579) HRAS G13D [plasma membrane] (R-HSA-9656572) HRAS G13S [plasma membrane] (R-HSA-9656574) HRAS K117N [plasma membrane] (R-HSA-9656603) HRAS G12D [plasma membrane] (R-HSA-9656564) HRAS G12C [plasma membrane] (R-HSA-9656561) HRAS [plasma membrane] (R-HSA-62717) S-Farn-Me HRAS [plasma membrane] (R-HSA-9665052) S-Farn-Me PalmS HRAS [Golgi membrane] (R-HSA-9647896) S-Farn-Me HRAS [endoplasmic reticulum membrane] (R-HSA-9647796) S-Farn-HRAS [endoplasmic reticulum membrane] (R-HSA-9647788)	0.604	3
UniProt:Q7Z699 SPRED1	2	SPRED1 [plasma membrane] (R-HSA-5658225) SPRED1 [cytosol] (R-HSA-5654207)	0.567	6
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)	0.508	3