p-S621-RAF1 S257L [cytosol]

Stable Identifier
R-HSA-9656121
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
RAF proto-oncogene serine/threonine-protein kinase , Raf-1, C-RAF, cRaf
p-S621-RAF1 S257L [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
20052757 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

David, A, Aoki, Y, Kure, S, Matsubara, Y, Lapunzina, P, Gillessen-Kaesbach, G, Ohata, T, Verloes, A, Cavé, H, Kurosawa, K, Ando, T, Nakagawa, N, Narumi, Y, Ohashi, H, Takada, F, Philip, N, Mizuno, S, Tsuchiya, S, Sakazume, S, Niihori, T, Wieczorek, D, Fujiwara, I, Okamoto, N, Kawame, H, Kobayashi, T, Meneses, AG, Guliyeva, A

Hum. Mutat. 2010
17603482 Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Kamisago, M, Nakagawa, M, Hirota, H, Muneuchi, J, Matsushima, M, Mizuno, K, Momma, K, Higashinakagawa, T, Komoike, Y, Fujiwara, Y, Amo, R, Furutani, M, Razzaque, MA, Nishizawa, T, Yagi, H, Katayama, H, Tokuyama, M, Matsuoka, R

Nat. Genet. 2007
External Reference Information
External Reference
Gene Names
RAF1, RAF
Chain
chain:1-648
Other Identifiers
11716472_a_at
11748273_a_at
16950848
1917_at
201244_PM_s_at
201244_s_at
2663243
2663245
2663246
2663247
2663248
2663251
2663253
2663258
2663261
2663263
2663270
2663271
2663272
2663273
2663274
2663275
2663278
2663279
2663280
2663281
2663282
2663283
2663284
2663288
2663289
2663290
2663291
2663292
38742_s_at
38743_f_at
42597_at
5894
8085374
A_23_P40952
GO:0000165
GO:0000166
GO:0001678
GO:0001934
GO:0002376
GO:0003824
GO:0004672
GO:0004674
GO:0004709
GO:0005515
GO:0005524
GO:0005634
GO:0005737
GO:0005739
GO:0005741
GO:0005794
GO:0005829
GO:0005886
GO:0006351
GO:0006355
GO:0006468
GO:0006915
GO:0007010
GO:0007165
GO:0007190
GO:0008285
GO:0008286
GO:0008625
GO:0012501
GO:0014044
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0019899
GO:0023052
GO:0030154
GO:0030878
GO:0031143
GO:0031267
GO:0031333
GO:0033138
GO:0035019
GO:0035023
GO:0035773
GO:0035994
GO:0036211
GO:0038133
GO:0042060
GO:0042552
GO:0042802
GO:0042981
GO:0043066
GO:0043154
GO:0043226
GO:0043410
GO:0044342
GO:0045104
GO:0045595
GO:0045944
GO:0046872
GO:0048009
GO:0048011
GO:0048538
GO:0048856
GO:0048870
GO:0060324
GO:0060333
GO:0065003
GO:0071550
GO:0098542
GO:0106310
GO:0140096
GO:1902042
GO:1902531
GO:2000145
HMNXSV003010706
HMNXSV003037375
ILMN_1813489
PH_hs_0039978
TC03001174.hg
X03484_at
g4506400_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
O-phospho-L-serine at 621
Coordinate
621
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
L-serine 257 replaced with L-leucine
Coordinate
257
PsiMod
A protein modification that effectively removes or replaces an L-serine.
A protein modification that effectively converts a source amino acid residue to an L-leucine.
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
colorectal cancer DOID:9256
Noonan syndrome DOID:3490 Turner's phenotype, karyotype normal (disorder)
hypertrophic cardiomyopathy DOID:11984 familial hypertrophic cardiomyopathy, hypertrophic obstructive cardiomyopathy
Cross References
ZINC - World Drugs
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Investigational
COSMIC
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (70)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P01112 HRAS  20 0.978 30
 UniProt:P63104 YWHAZ  2 0.966 35
 UniProt:P15056 BRAF  20 0.966 72
 UniProt:Q02750 MAP2K1  20 0.96 39
 UniProt:P31946 YWHAB  1 0.955 38
 UniProt:Q04917 YWHAH  1 0.936 27
 UniProt:P61981 YWHAG  1 0.928 25
 UniProt:P27348 YWHAQ  1 0.926 24
 UniProt:P01111 NRAS  20 0.925 12
 UniProt:P62258 YWHAE  1 0.913 24
 UniProt:Q16543 CDC37  1 0.899 20
 UniProt:P31947 SFN  1 0.887 9
 UniProt:P08238 HSP90AB1  6 0.857 17
 UniProt:P36507 MAP2K2  12 0.85 7
 UniProt:P04049 RAF1  20 0.811 6
 UniProt:P30086 PEBP1  1 0.758 10
 UniProt:P07900 HSP90AA1  8 0.744 15
 UniProt:Q3ZCQ8 TIMM50  1 0.738 7
 UniProt:P01116 KRAS  20 0.695 6
 UniProt:P01116-2 KRAS  8 0.676 3
 UniProt:O95816 BAG2  1 0.669 12
 UniProt:P49368 CCT3  1 0.659 8
 UniProt:Q13188 STK3  4 0.645 6
 UniProt:O43852 CALU  3 0.643 4
 UniProt:Q13418 ILK  1 0.643 3
 UniProt:P50990 CCT8  5 0.643 7
 UniProt:P10398 ARAF  4 0.643 4
 UniProt:P62834 RAP1A  4 0.623 2
 UniProt:Q96S96 PEBP4      0.597 4
 UniProt:P11021 HSPA5  6 0.576 5
 UniProt:Q6TCH7 PAQR3  1 0.576 3
 UniProt:P32883 Kras  17 0.573 2
 UniProt:Q8IVT5 KSR1  5 0.564 5
 UniProt:Q9UNE7 STUB1  1 0.564 8
 UniProt:Q15773 MLF2      0.564 4
 UniProt:Q13526 PIN1  2 0.564 2
 UniProt:Q13177 PAK2  11 0.558 2
 UniProt:Q14790 CASP8  8 0.556 3
 UniProt:P05067 APP  20 0.556 3
 UniProt:O39474 O39474      0.556 4
 UniProt:P00533 EGFR  20 0.553 2
 UniProt:Q13362 PPP2R5C  3 0.544 2
 UniProt:P67775 PPP2CA  4 0.544 2
 UniProt:P31749 AKT1  14 0.536 2
 UniProt:P78371 CCT2  3 0.527 6
 UniProt:Q99832 CCT7  1 0.527 6
 UniProt:P30876 POLR2B  1 0.527 2
 UniProt:P50991 CCT4  1 0.527 6
 UniProt:P17066 HSPA6  5 0.527 3
 UniProt:Q9ULX6 AKAP8L  1 0.527 9
 UniProt:P61619 SEC61A1  2 0.527 3
 UniProt:Q9H9S3 SEC61A2  2 0.527 3
 UniProt:Q96AG4 LRC59      0.527 2
 UniProt:P50402 EMD  4 0.527 2
 UniProt:P48643 CCT5  1 0.527 6
 UniProt:O14593 RFXK      0.527 3
 UniProt:Q58FF7 H90B3      0.527 13
 UniProt:P40227 CCT6A  1 0.527 6
 UniProt:P17987 TCP1  1 0.527 5
 UniProt:Q8N163 CCAR2  2 0.527 9
 UniProt:Q53GQ0 HSD17B12  1 0.527 2
 UniProt:O43324 EEF1E1  1 0.527 2
 UniProt:P03495 NS1      0.508 2
 UniProt:Q99933 BAG1  1 0.508 2
 UniProt:O15371 EIF3D  1 0.508 4
 UniProt:P43246 MSH2  3 0.508 2
 UniProt:P28301  3 0.499 2
 UniProt:Q9ESN9-2 MAPK8IP3      0.499 2
 UniProt:P01120  2 0.499 2
 UniProt:P05783 KRT18  1 0.488 5
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