p-BRAF F595L [plasma membrane]

Stable Identifier
R-HSA-8936641
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
B-RAF
p-BRAF F595L [plasma membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
12068308 Mutations of the BRAF gene in human cancer

Maitland, N, Jayatilake, H, Futreal, PA, Yuen, ST, Marshall, CJ, Menzies, A, Parker, A, Chenevix-Trench, G, Leung, SY, Garnett, MJ, Davis, N, Shipley, J, Cooper, C, Darrow, TL, Marais, R, Paterson, H, Palmieri, G, Floyd, Y, Bottomley, W, Bigner, DD, Bignell, GR, Stevens, C, Cossu, A, Hall, S, Ho, JW, Wilson, R, Mould, C, Gusterson, BA, Watt, S, Cox, C, Riggins, GJ, Flanagan, A, Gray, K, Wooster, R, Hooper, S, Teague, J, Ewing, R, Edkins, S, Seigler, HF, Hargrave, D, Hawes, R, Kosmidou, V, Nicholson, A, Stephens, P, Weber, BL, Hughes, J, Davies, H, Woffendin, H, Stratton, MR, Clegg, S, Dicks, E, Pritchard-Jones, K

Nature 2002
16439621 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

Tidyman, WE, McCormick, F, Cruz, MS, Conger, BA, Rodriguez-Viciana, P, Estep, AL, Rauen, KA, Tetsu, O

Science 2006
19206169 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Cordeddu, V, Ferrero, GB, Scioletti, AP, Tartaglia, M, Marino, B, Digilio, MC, Puxeddu, E, Moretti, S, Gelb, BD, Stuppia, L, Zampino, G, Esposito, G, Carta, C, Sarkozy, A, Pantaleoni, F, Memo, L, Mancini, GM, Petrangeli, V, Dallapiccola, B, Silengo, MC, Faravelli, F, Lepri, F, Selicorni, A, Rossi, C, Stanzial, F, Dentici, ML, Mazzanti, L

Hum. Mutat. 2009
15035987 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

Niculescu-Duvaz, D, Lee, S, Marais, R, Marshall, CJ, Barford, D, Jones, CM, Good, VM, Springer, CJ, Wan, PT, Garnett, MJ, Roe, SM

Cell 2004
External Reference Information
External Reference
Gene Names
BRAF, BRAF1, RAFB1
Chain
initiator methionine:, chain:2-766
Reference Transcript
Other Identifiers
11732491_s_at
1654_at
17063631
206044_PM_s_at
206044_s_at
226391_PM_at
226391_at
236402_PM_at
236402_at
243829_PM_at
243829_at
3076354
3076355
3076356
3076357
3076358
3076359
3076360
3076361
3076362
3076363
3076364
3076365
3076366
3076367
3076368
3076370
3076371
3076372
3076374
3076375
3076380
3076381
3076382
3076383
3076384
3076385
3076386
3076388
3076390
3076391
3076392
3076393
3076396
3076397
3076398
3076399
3076406
3076411
3076412
3076413
3076414
3076415
3076416
3076439
3076440
3076441
3076442
3982166
3982173
40306_at
55694_at
673
72299_r_at
75931_at
8143417
86199_r_at
91686_at
A_23_P42935
A_24_P567502
GE58163
GE766137
GO:0000165
GO:0002318
GO:0002376
GO:0003824
GO:0004672
GO:0004674
GO:0004676
GO:0004677
GO:0004679
GO:0004694
GO:0004708
GO:0004709
GO:0004711
GO:0004713
GO:0005509
GO:0005515
GO:0005524
GO:0005634
GO:0005737
GO:0005739
GO:0005815
GO:0005829
GO:0005886
GO:0005929
GO:0006325
GO:0006338
GO:0006468
GO:0007010
GO:0007155
GO:0007165
GO:0007173
GO:0008270
GO:0008542
GO:0009887
GO:0010628
GO:0010764
GO:0010828
GO:0012501
GO:0016079
GO:0016192
GO:0016740
GO:0030154
GO:0030878
GO:0033077
GO:0033138
GO:0034446
GO:0034451
GO:0035019
GO:0035175
GO:0035402
GO:0035403
GO:0035979
GO:0036064
GO:0036211
GO:0042127
GO:0042802
GO:0043005
GO:0043066
GO:0043149
GO:0043226
GO:0043231
GO:0043367
GO:0043368
GO:0043369
GO:0043524
GO:0044022
GO:0044023
GO:0044024
GO:0044025
GO:0044297
GO:0045580
GO:0046632
GO:0046872
GO:0048538
GO:0048679
GO:0048680
GO:0048856
GO:0050772
GO:0050852
GO:0050877
GO:0051496
GO:0060291
GO:0060323
GO:0060324
GO:0070371
GO:0070374
GO:0071277
GO:0071466
GO:0072354
GO:0072371
GO:0072518
GO:0072577
GO:0090150
GO:0097110
GO:0098793
GO:0098978
GO:0099170
GO:0106310
GO:0140096
GO:0140823
GO:0140855
GO:0140857
GO:1900026
GO:1990244
GO:2000301
GO:2000352
HMNXSV003020754
HMNXSV003038238
Hs.162967.0.A1_3p_at
Hs.299137.0.A1_3p_at
Hs.96566.0.S1_3p_at
ILMN_1652472
ILMN_1836469
M95712_at
PH_hs_0027912
PH_hs_0038106
TC07001926.hg
TC07001927.hg
TC07003197.hg
g4757867_3p_a_at
p26408
Participates
Other forms of this molecule
Modified Residues
Name
L-phenylalanine 595 replaced with L-leucine
Coordinate
595
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-leucine.
A protein modification that effectively removes or replaces an L-phenylalanine.
Name
O-phospho-L-serine at 446
Coordinate
446
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
O-phospho-L-serine at 729
Coordinate
729
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
O-phospho-L-threonine at 599
Coordinate
599
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-threonine residue to O-phospho-L-threonine.
Name
O-phospho-L-serine at 602
Coordinate
602
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Disease
Name Identifier Synonyms
LEOPARD syndrome DOID:14291 Generalized lentiginosis, Multiple lentigines syndrome, Moynahan syndrome, Cardiocutaneous syndrome, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Lentiginosis profusa syndrome, Gorlin syndrome II, Progressive cardiomyopathic lentiginosis
cardiofaciocutaneous syndrome DOID:0060233 CFC syndrome, cardio-facial-cutaneous syndrome
bladder carcinoma DOID:4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
colorectal cancer DOID:9256
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Investigational
ZINC - Metabolites
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (127)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q02750 MAP2K1  20 0.98 65
 UniProt:P04049 RAF1  20 0.968 73
 UniProt:P63104 YWHAZ  2 0.941 15
 UniProt:P31946 YWHAB  1 0.932 14
 UniProt:P01112 HRAS  20 0.931 9
 UniProt:P15056 BRAF  20 0.927 14
 UniProt:P61981 YWHAG  1 0.912 12
 UniProt:P27348 YWHAQ  1 0.908 12
 UniProt:P36507 MAP2K2  12 0.894 13
 UniProt:P10398 ARAF  4 0.889 9
 UniProt:P62258 YWHAE  1 0.889 11
 UniProt:Q04917 YWHAH  1 0.879 12
 UniProt:P01111 NRAS  20 0.863 8
 UniProt:P31947 SFN  1 0.767 6
 UniProt:P08238 HSP90AB1  6 0.731 5
 UniProt:Q8N122 RPTOR  3 0.695 4
 UniProt:Q14145 KEAP1  3 0.681 16
 UniProt:P01116 KRAS  20 0.68 5
 UniProt:Q16543 CDC37  1 0.643 6
 UniProt:Q13233 MAP3K1  2 0.609 2
 UniProt:Q07817 BCL2L1  2 0.596 7
 UniProt:P49840 GSK3A  3 0.596 6
 UniProt:P17174 GOT1  1 0.596 5
 UniProt:P40337 VHL  3 0.596 7
 UniProt:O00255 MEN1  4 0.596 4
 UniProt:Q9UMX1 SUFU  3 0.596 4
 UniProt:Q07864 POLE  1 0.596 6
 UniProt:Q13164 MAPK7  4 0.596 5
 UniProt:Q9BRP1 PDD2L      0.596 6
 UniProt:P27987 ITPKB  1 0.596 4
 UniProt:O14965 AURKA  6 0.596 5
 UniProt:O14920 IKBKB  3 0.596 5
 UniProt:O43524 FOXO3  11 0.596 5
 UniProt:Q02156 PRKCE  2 0.589 3
 UniProt:P31749 AKT1  14 0.577 4
 UniProt:Q16254 E2F4  1 0.553 4
 UniProt:Q9GZV4 EIF5A2  3 0.553 4
 UniProt:Q12967 RALGDS  1 0.553 4
 UniProt:P21399 ACO1  1 0.553 4
 UniProt:P57735 RAB25  2 0.553 4
 UniProt:P48736 PIK3CG  1 0.553 4
 UniProt:P61024 CKS1B  1 0.553 4
 UniProt:P18074 ERCC2  2 0.553 3
 UniProt:Q15759 MAPK11  4 0.553 4
 UniProt:P25311 AZGP1  1 0.553 3
 UniProt:Q92843 B2CL2      0.553 4
 UniProt:P49407 ARRB1  6 0.553 4
 UniProt:Q7Z589 EMSY      0.553 4
 UniProt:O15297 PPM1D  1 0.553 4
 UniProt:P40259 CD79B  2 0.553 3
 UniProt:O75874 IDH1  10 0.553 4
 UniProt:P04637 TP53  20 0.553 4
 UniProt:Q8WXI9 GATAD2B  1 0.553 3
 UniProt:Q6P1J9 CDC73  1 0.553 4
 UniProt:Q9NX70 MED29  1 0.553 4
 UniProt:Q8IYM1 SEP12      0.553 4
 UniProt:P28715 ERCC5  1 0.553 3
 UniProt:Q92560 BAP1  1 0.553 4
 UniProt:P35221 CTNNA1  2 0.553 4
 UniProt:P16885 PLCG2  8 0.553 4
 UniProt:P07196 NEFL  1 0.553 4
 UniProt:P61224 RAP1B  2 0.553 4
 UniProt:P42772 CDKN2B  1 0.553 4
 UniProt:P27986 PIK3R1  16 0.553 3
 UniProt:P46940 IQGAP1  3 0.544 4
 UniProt:Q16659 MAPK6 gene  6 0.539 3
 UniProt:P07098 LIPF  1 0.527 2
 UniProt:Q15042 RAB3GAP1  2 0.527 2
 UniProt:Q9UH62 ARMCX3  1 0.527 2
 UniProt:Q14154 DELE1  3 0.527 2
 UniProt:P11021 HSPA5  6 0.527 3
 UniProt:Q9UIM3 FKBPL  1 0.527 2
 UniProt:P11142 HSPA8  10 0.527 2
 UniProt:P38646 HSPA9  6 0.527 2
 UniProt:Q99N57  11 0.499 3
 UniProt:Q61097  5 0.499 3
 UniProt:P07900 HSP90AA1  8 0.483 3
 UniProt:Q16651 PRSS8  2 0.471 2
 UniProt:Q6W2J9 BCOR      0.471 2
 UniProt:Q15561 TEAD4  1 0.471 2
 UniProt:P08069 IGF1R  3 0.471 2
 UniProt:P30279 CCND2  2 0.471 2
 UniProt:P52333 JAK3  6 0.471 2
 UniProt:P28347 TEAD1  1 0.471 2
 UniProt:Q03181 PPARD  1 0.471 2
 UniProt:P19367 HK1  4 0.471 2
 UniProt:Q92800 EZH1      0.471 2
 UniProt:P23458 JAK1  6 0.471 2
 UniProt:P08476 INHBA  1 0.471 2
 UniProt:Q00597 FANCC  2 0.471 2
 UniProt:Q06187 BTK  6 0.471 2
 UniProt:O43741 PRKAB2  2 0.471 2
 UniProt:Q969H4 CNKSR1  1 0.471 2
 UniProt:Q15382 RHEB  2 0.471 2
 UniProt:Q14209 E2F2  1 0.471 2
 UniProt:Q92747 ARPC1A  1 0.471 2
 UniProt:P08236 GUSB  9 0.471 2
 UniProt:Q96HB5 CC120      0.471 2
 UniProt:A1E959 ODAM  1 0.471 2
 UniProt:P30260 CDC27  2 0.471 2
 UniProt:P53779 MAPK10  3 0.471 2
 UniProt:P53778 MAPK12  3 0.471 2
 UniProt:Q96AV8 E2F7  1 0.471 2
 UniProt:Q13882 PTK6  5 0.471 2
 UniProt:Q9BZK7 TBL1XR1  1 0.471 2
 UniProt:Q16633 OBF1      0.471 2
 UniProt:Q9NRM7 LATS2  2 0.471 2
 UniProt:Q9Y6E7 SIRT4  1 0.471 2
 UniProt:O95389 CCN6      0.471 2
 UniProt:Q9HB63 NTN4  1 0.471 2
 UniProt:P46777 RPL5  1 0.471 2
 UniProt:Q9UIV8 SERPINB13  1 0.471 2
 UniProt:P21912 SDHB  2 0.471 2
 UniProt:P36222 CHI3L1  2 0.471 2
 UniProt:P29992 GNA11  1 0.471 2
 UniProt:P21860 ERBB3      0.471 2
 UniProt:Q70Z35 PREX2  1 0.471 2
 UniProt:P30291 WEE1  4 0.471 2
 UniProt:P32121 ARRB2  3 0.471 2
 UniProt:O95754 SEMA4F  1 0.471 2
 UniProt:Q86WJ1 CHD1L  1 0.471 2
 UniProt:P78333 GPC5  20 0.471 2
 UniProt:Q6ZNE5 ATG14  3 0.471 2
 UniProt:Q9NW38 FANCL  2 0.471 2
 UniProt:P31040 SDHA  2 0.471 2
 UniProt:Q00534 CDK6  3 0.471 2
 UniProt:Q9NXR7 BRE  2 0.471 2
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