UniProt:P21359 NF1

chain
  • initiator methionine:1
  • chain:2-2839
  • chain:2-1305
checksum C079475139DBD51E
comment
  • FUNCTION Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.SUBUNIT Interacts with HTR6 (PubMed:23027611). Interacts with SPRED2 (PubMed:34626534).INTERACTION Experimental confirmation may be lacking for some isoforms.TISSUE SPECIFICITY Detected in brain, peripheral nerve, lung, colon and muscle.DOMAIN Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.PTM Ubiquitinated by RNF7/RBX2, leading to its degradation.RNA EDITING The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry may be involved in disease pathogenesis.CAUTION Was originally thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.SEQUENCE CAUTION Truncated N-terminus.ONLINE INFORMATION Leiden Open Variation Database (LOVD)
crossReference
databaseName UniProt
dbId 60115
description
  • recommendedName: Neurofibromin alternativeName: Neurofibromatosis-related protein NF-1 component recommendedName: Neurofibromin truncated /component
displayName UniProt:P21359 NF1
geneName
  • NF1
identifier P21359
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • GTPase activation
  • Lipid-binding
  • Membrane
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • RNA editing
  • Tumor suppressor
  • Ubl conjugation
moleculeType Protein
name
  • NF1
otherIdentifier
  • 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
  • 11763466_at
  • 11763503_a_at
  • 11763504_at
  • 11763505_x_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
  • 216115_PM_at
  • 216115_at
  • 2340338
  • 243476_PM_at
  • 243476_at
  • 2576364
  • 2576372
  • 2576378
  • 2576384
  • 2576388
  • 3450594
  • 3527040
  • 3527063
  • 3527067
  • 35328_at
  • 3612840
  • 3612844
  • 3612849
  • 3612852
  • 3612859
  • 3716797
  • 3716798
  • 3716799
  • 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
  • 3717094
  • 3717095
  • 3717096
  • 3717097
  • 3717098
  • 3717099
  • 3717100
  • 3717101
  • 3717102
  • 3717105
  • 3717106
  • 3717107
  • 3717108
  • 3717109
  • 3717110
  • 3717111
  • 3717112
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  • 3717114
  • 3717115
  • 3717116
  • 3717117
  • 3717118
  • 3717119
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  • 3717121
  • 3717122
  • 3717123
  • 3717124
  • 3717125
  • 3717126
  • 3717127
  • 3717128
  • 3717129
  • 3717130
  • 3717131
  • 3717132
  • 3717133
  • 3717134
  • 3717135
  • 3717136
  • 3717137
  • 3717138
  • 3717139
  • 3717140
  • 3717141
  • 3717142
  • 3717143
  • 3717144
  • 3717145
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  • 3717178
  • 3717184
  • 3717194
  • 3717196
  • 3717197
  • 3717238
  • 3717249
  • 3717251
  • 3717253
  • 3717275
  • 3717283
  • 3717284
  • 3717285
  • 3717287
  • 3800214
  • 3800215
  • 3800217
  • 38289_r_at
  • 3914708
  • 3914709
  • 3914725
  • 3935682
  • 3935683
  • 3935685
  • 3935686
  • 3935689
  • 3935692
  • 3935693
  • 3935696
  • 4763
  • 62316_at
  • 739_at
  • 75575_at
  • 8006239
  • 8006296
  • 940_g_at
  • 961_at
  • A_14_P117287
  • A_14_P121459
  • A_14_P127545
  • A_14_P129024
  • A_14_P134602
  • A_23_P207596
  • A_24_P1919
  • A_24_P917026
  • D12625_at
  • D42072_at
  • GE54517
  • GE58128
  • GE845405
  • GE84602
  • GO:0000165
  • GO:0000902
  • 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:0006606
  • GO:0006886
  • GO:0006913
  • GO:0006915
  • GO:0007154
  • 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: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: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:0034605
  • GO:0035021
  • GO:0036135
  • GO:0042060
  • GO:0042127
  • GO:0042308
  • GO:0043065
  • GO:0043087
  • GO:0043408
  • GO:0043409
  • GO:0043473
  • GO:0043491
  • GO:0043525
  • GO:0043535
  • GO:0043547
  • GO:0045124
  • GO:0045671
  • GO:0045685
  • GO:0045765
  • GO:0046580
  • GO:0046929
  • GO:0048144
  • GO:0048147
  • GO:0048169
  • GO:0048485
  • GO:0048593
  • GO:0048708
  • GO:0048709
  • GO:0048712
  • GO:0048715
  • GO:0048745
  • GO:0048820
  • GO:0048844
  • GO:0048853
  • GO:0048856
  • GO:0048870
  • GO:0050793
  • 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:1902531
  • GO:1904707
  • GO:1904738
  • GO:1904753
  • GO:1990874
  • GO:2000108
  • GO:2000647
  • GO:2001241
  • HMNXSV003013055
  • HMNXSV003024277
  • Hs.113577.0.A1_3p_at
  • Hs.306713.0.S1_3p_x_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
physicalEntity
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • NF1_HUMAN
  • O00662
  • Q14284
  • Q14930
  • Q14931
  • Q9UMK3
sequenceLength 2839
stId uniprot:P21359

Referrals

(referenceEntity)
(referenceSequence)
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