NF1 R1276P

Stable Identifier
R-HSA-6802420
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
9668168 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1

Klose, A, Ahmadian, MR, Schuelke, M, Scheffzek, K, Hoffmeyer, S, Gewies, A, Schmitz, F, Kaufmann, D, Peters, H, Wittinghofer, A, Nürnberg, P

Hum. Mol. Genet. 1998
External Reference Information
External Reference
UniProt:P21359 NF1
Gene Names
NF1
Chain
initiator methionine:1, 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:ENSG00000196712 NF1
HGNC:7765 NF1
KEGG Gene (Homo sapiens):hsa:4763 NF1
Monarch:4763 NF1
NCBI Gene:4763 NF1
OMIM:613113 NF1
UCSC:P21359 NF1
Reference Transcript
Other Identifiers
0000540692
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
1NF1
204323_x_at
204325_s_at
210631_at
211094_s_at
211095_at
211914_x_at
212676_at
212678_at
2576364
2576372
2576378
2576384
2576388
2D4Q
2E2X
3450594
3527040
3527063
3527067
3612840
3612844
3612849
3612852
3612859
3717053
3717054
3717055
3717059
3717060
3717061
3717062
3717063
3717064
3717065
3717066
3717067
3717068
3717069
3717070
3717071
3717072
3717073
3717074
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
3800214
3800215
3800217
38289_r_at
3914708
3914709
3914725
3935682
3935683
3935685
3935686
3935689
3935692
3935693
3935696
3P7Z
3PEG
3PG7
45502
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
AAA18483
AAA59921
AAA59922
AAA59923
AAA59924
AAA59925
AAA59928
AAA74897
AAB24636
AAB48373
AAB48374
AAB48375
AAB48376
AAB48377
AAB48378
AAB48379
AAB48380
AAB59558
AAV50004
AC004222
AC079915
AC134669
AC135724
AC138207
AC139072
AH000834
AY796305
BAA01371
BAA02150
BAA07669
CAA69179
CCDS11264
CCDS42292
CCDS45645
CH471147
D10490
D12625
D12625_at
D42072
D42072_at
EAW80272
EAW80275
ENSG00000196712
ENSP00000348498
ENSP00000351015
ENSP00000412921
ENSP00000491589
ENST00000356175
ENST00000358273
ENST00000431387
ENST00000487476
EntrezGene:4763
g1060900_3p_at
g189159_3p_s_at
g189162_3p_a_at
g219939_3p_a_at
g219939_3p_x_at
g4557792_3p_a_at
GE54517
GE58128
GO:0000165
GO:0001649
GO:0001656
GO:0001666
GO:0001889
GO:0001937
GO:0001938
GO:0001952
GO:0001953
GO:0002376
GO:0003674
GO:0005096
GO:0005488
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005730
GO:0005737
GO:0005829
GO:0005886
GO:0006464
GO:0006469
GO:0006605
GO:0006810
GO:0006913
GO:0006950
GO:0007010
GO:0007154
GO:0007155
GO:0007165
GO:0007265
GO:0007267
GO:0007406
GO:0007420
GO:0007422
GO:0007507
GO:0007519
GO:0008150
GO:0008219
GO:0008283
GO:0008285
GO:0008289
GO:0008429
GO:0008542
GO:0008625
GO:0009058
GO:0009790
GO:0010468
GO:0014044
GO:0014065
GO:0016020
GO:0016525
GO:0021510
GO:0021700
GO:0021764
GO:0021897
GO:0021915
GO:0021987
GO:0022011
GO:0030036
GO:0030154
GO:0030198
GO:0030199
GO:0030234
GO:0030325
GO:0030336
GO:0030424
GO:0030425
GO:0031210
GO:0031235
GO:0032228
GO:0034605
GO:0034641
GO:0035021
GO:0040011
GO:0042060
GO:0042127
GO:0042592
GO:0042992
GO:0043065
GO:0043087
GO:0043167
GO:0043226
GO:0043407
GO:0043408
GO:0043409
GO:0043473
GO:0043525
GO:0043535
GO:0043547
GO:0044281
GO:0045124
GO:0045202
GO:0045671
GO:0045685
GO:0045762
GO:0045765
GO:0046580
GO:0046929
GO:0048147
GO:0048169
GO:0048485
GO:0048593
GO:0048646
GO:0048712
GO:0048715
GO:0048745
GO:0048820
GO:0048844
GO:0048853
GO:0048856
GO:0048870
GO:0050877
GO:0050890
GO:0061534
GO:0061535
GO:0098597
GO:0098793
GO:1900271
GO:1902043
GO:2001241
HGNC:7765
HPA045502
Hs.58220.0.S1_3p_at
Hs.58220.0.S2_3p_at
ILMN_1726387
ILMN_3205030
IPR001251
IPR001936
IPR008936
IPR011989
IPR016024
IPR023152
IPR036865
LRG_214
LRG_214t1
LRG_214t2
M38106
M38107
M60496
M60915
M61213
M82814
M89914
M89914_s_at
MIM:162200
MIM:162210
MIM:193520
MIM:601321
MIM:607785
MIM:613113
NF1
NF1-201
NF1-202
NF1-204
NF1-211
NM_000267
NM_001042492
NM_001128147
NP_000258
NP_001035957
NP_001121619
PF00616
PF13716
PH_hs_0005132
S51751
SM00323
SM00516
TC17000362.hg
U17656
U17659
U17662
U17667
U17668
U17673
U17676
U17677
U17680
U17681
U17682
U17683
U17684
U17685
U17686
U17687
U17688
U17689
U17690
uc002hgf.3
uc002hgg.3
uc002hgh.3
UPI000002AEF8
UPI000002AEF9
UPI000006E48B
UPI000012FFAE
XM_005257983
XM_005257984
XM_006721922
XM_006721924
XM_006721925
XM_006721926
XM_011524852
XM_011524857
XM_017024689
XP_005258040
XP_005258041
XP_006721985
XP_006721987
XP_006721988
XP_006721989
XP_011523154
XP_011523159
XP_016880178
Y07853
Participant Of
hasMember
Other forms of this molecule
NF1 R816* [cytosol]
NF1(2-2839) [cytosol]
ub-NF1(2-2839) [cytosol]
NF1 R1412S [cytosol]
NF1 L1187I [cytosol]
NF1 K1444E [cytosol]
NF1 F1464L [cytosol]
Modified Residues
Name
L-arginine 1276 replaced with L-proline
Coordinate
1276
PsiMod HEY
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
neurofibromatosis 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
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
Interactors (2)