NF1 R1412S [cytosol]

Stable Identifier
R-HSA-6802421
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Icon
NF1 R1412S [cytosol] icon
NF1 R1412S [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
7981724 Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

Harper, PS, Upadhyaya, M, Shaw, DJ

Hum. Mutat. 1994
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 member of
Other forms of this molecule
NF1 R816* [cytosol]
NF1 F1464L [cytosol]
NF1 K1444E [cytosol]
NF1 L1187I [cytosol]
NF1 R1276P [cytosol]
NF1 R2517* [cytosol]
NF1 Q616Gfs*4 [cytosol]
NF1 R2450* [cytosol]
NF1 R2637* [cytosol]
NF1 R2637Q [cytosol]
NF1 R304* [cytosol]
NF1 R1276* [cytosol]
NF1 C845Vfs*33 [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
L-arginine 1412 replaced with L-serine
Coordinate
1412
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name Identifier Synonyms
neurofibromatosis DOID:8712 Neurofibromatosis 1, neurofibromatosis type IV, Acoustic neurofibromatosis, Recklinghausen's neurofibromatosis, neurofibromatosis type 4, central Neurofibromatosis, type IV neurofibromatosis of riccardi, neurofibromatosis type 1, neurofibromatosis type 2, peripheral Neurofibromatosis, von Reklinghausen disease
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (5)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q04917 YWHAH  1 0.671 4
 UniProt:P31946 YWHAB  1 0.671 4
 UniProt:P01112 HRAS  20 0.604 3
 UniProt:Q7Z699 SPRED1  2 0.567 6
 UniProt:P05067 APP  20 0.508 3
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