full name
neurofibromin 1

synonyms
NFNS, VRNF, WSS, NF1, ENSG00000196712

HGNC
HGNC:7765

Entrez Gene
Gene:4763

ENSEMBL
ENSG00000196712

location
chr: 17
start: 29421945
stop: 29704695
strand: +

OMIM
OMIM:613113: NF1 (Somatic mutation)
OMIM:607785: Leukemia, juvenile myelomonocytic
OMIM:162210: Neurofibromatosis, familial spinal
OMIM:162200: Neurofibromatosis, type 1
OMIM:601321: Neurofibromatosis-Noonan syndrome
OMIM:193520: Watson syndrome

transcripts
NM_001042492.2
NM_000267.3
NM_001128147.2

pathways
ARMS-mediated activation [NCBI:1269471] [REACTOME:R-HSA-170984] [PUBMED:9069267]
ATF-2 transcription factor network [NCBI:138006] [Pathway Interaction Database:atf2_pathway] [PUBMED:12048217] [PUBMED:19255142] [PUBMED:11739785] [PUBMED:7624151] [PUBMED:19822663] [PUBMED:17590016] [PUBMED:7535770] [PUBMED:18396163] [PUBMED:20507983] [PUBMED:19422799] [PUBMED:7824938] [PUBMED:11713276] [PUBMED:17258390] [PUBMED:10454570] [PUBMED:20067572] [PUBMED:10364225] [PUBMED:12121977] [PUBMED:12110590] [PUBMED:19176525] [PUBMED:16511568] [PUBMED:17079470] [PUBMED:17267404] [PUBMED:10777595] [PUBMED:2516827] [PUBMED:18397884] [PUBMED:10207054] [PUBMED:9436983] [PUBMED:7737130] [PUBMED:10982836] [PUBMED:9006914] [PUBMED:19592489] [PUBMED:17158955] [PUBMED:17189429] [PUBMED:11566021] [PUBMED:17626013] [PUBMED:17036053] [PUBMED:20702711] [PUBMED:10085140] [PUBMED:20032511] [PUBMED:17219413] [PUBMED:17337306] [PUBMED:9511728] [PUBMED:12196528] [PUBMED:19304750] [PUBMED:17700520] [PUBMED:16373341] [PUBMED:12833146] [PUBMED:1827203] [PUBMED:17699753] [PUBMED:9990041] [PUBMED:15304344] [PUBMED:11231009] [PUBMED:18385943] [PUBMED:18387947] [PUBMED:18638549] [PUBMED:15767263] [PUBMED:10777545] [PUBMED:14630918] [PUBMED:18802055] [PUBMED:10037779] [PUBMED:12052888] [PUBMED:8943243] [PUBMED:20181929] [PUBMED:19647037] [PUBMED:8382609] [PUBMED:16405968] [PUBMED:1641004]
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
DAP12 interactions [NCBI:1269283] [REACTOME:R-HSA-2172127] [PUBMED:19120482] [PUBMED:17220916] [PUBMED:9490415] [PUBMED:18192027] [PUBMED:15884055]
DAP12 signaling [NCBI:1269284] [REACTOME:R-HSA-2424491] [PUBMED:15884055] [PUBMED:17110943] [PUBMED:17220916]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
Downstream signal transduction [NCBI:1269479] [REACTOME:R-HSA-186763] [PUBMED:10508235] [PUBMED:9739761]
EGFR tyrosine kinase inhibitor resistance [NCBI:1404798] [KEGG:hsa01521] [PUBMED:16843264] [PUBMED:23401451] [PUBMED:20966921] [PUBMED:24307395] [PUBMED:22956644] [PUBMED:25232485] [PUBMED:24493829] [PUBMED:23071030] [PUBMED:18483355] [PUBMED:24202392] [PUBMED:19632948] [PUBMED:23361103] [PUBMED:26579470] [PUBMED:22970367] [PUBMED:23358468] [PUBMED:17554333] [PUBMED:25337673] [PUBMED:22474259] [PUBMED:20551942]
FCERI mediated MAPK activation [NCBI:1269299] [REACTOME:R-HSA-2871796] [PUBMED:19290926] [PUBMED:19909365] [PUBMED:17122878]
FOXA2 and FOXA3 transcription factor networks [NCBI:137911] [Pathway Interaction Database:hnf3bpathway] [PUBMED:14500912] [PUBMED:9632808] [PUBMED:8668179] [PUBMED:2786140] [PUBMED:10748140] [PUBMED:8662915] [PUBMED:12865419] [PUBMED:12145169] [PUBMED:15314688] [PUBMED:12911579] [PUBMED:15123725] [PUBMED:16098831] [PUBMED:10455192] [PUBMED:15616563] [PUBMED:7524494] [PUBMED:7565696] [PUBMED:15959514] [PUBMED:11278466] [PUBMED:9369482] [PUBMED:8813720]
Fc epsilon receptor (FCERI) signaling [NCBI:1269298] [REACTOME:R-HSA-2454202] [PUBMED:15099567] [PUBMED:21799019]
Frs2-mediated activation [NCBI:1269470] [REACTOME:R-HSA-170968] [PUBMED:9069267]
GRB2 events in EGFR signaling [NCBI:1269382] [REACTOME:R-HSA-179812] [PUBMED:11706405] [PUBMED:11498013]
Gastrin-CREB signalling pathway via PKC and MAPK [NCBI:1269592] [REACTOME:R-HSA-881907] [PUBMED:10413847] [PUBMED:7491953] [PUBMED:17698287]
IGF1R signaling cascade [NCBI:1269618] [REACTOME:R-HSA-2428924] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959]
IRS-mediated signalling [NCBI:1269431] [REACTOME:R-HSA-112399]
IRS-related events triggered by IGF1R [NCBI:1269620] [REACTOME:R-HSA-2428928] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:18927274] [PUBMED:21042815] [PUBMED:20098959]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Insulin receptor signalling cascade [NCBI:1269429] [REACTOME:R-HSA-74751] [PUBMED:9677303] [PUBMED:11282018]
Interleukin receptor SHC signaling [NCBI:1269322] [REACTOME:R-HSA-912526] [PUBMED:8294403]
Interleukin-2 signaling [NCBI:1269321] [REACTOME:R-HSA-451927] [PUBMED:17936914] [PUBMED:18817510] [PUBMED:19543225] [PUBMED:18062768]
Interleukin-3, 5 and GM-CSF signaling [NCBI:1269323] [REACTOME:R-HSA-512988] [PUBMED:10450743] [PUBMED:9766809]
MAPK family signaling cascades [NCBI:1269501] [REACTOME:R-HSA-5683057] [PUBMED:21167873] [PUBMED:17161475] [PUBMED:22535895] [PUBMED:21372320]
MAPK signaling pathway [NCBI:83048] [KEGG:hsa04010] [PUBMED:11749383] [PUBMED:12566928] [PUBMED:12849693] [PUBMED:12676795] [PUBMED:12947395] [PUBMED:14597384] [PUBMED:11369511] [PUBMED:12191611] [PUBMED:12390245]
MAPK1/MAPK3 signaling [NCBI:1269502] [REACTOME:R-HSA-5684996] [PUBMED:25378393] [PUBMED:18199641] [PUBMED:17496909] [PUBMED:21779496] [PUBMED:15520807] [PUBMED:16393692] [PUBMED:19520853] [PUBMED:17496910] [PUBMED:22569528]
NCAM signaling for neurite out-growth [NCBI:1270312] [REACTOME:R-HSA-375165] [PUBMED:18760361] [PUBMED:12587671] [PUBMED:15662836] [PUBMED:17975827] [PUBMED:15153429] [PUBMED:12700044]
NGF signalling via TRKA from the plasma membrane [NCBI:1269460] [REACTOME:R-HSA-187037] [PUBMED:11520933] [PUBMED:12676795] [PUBMED:10851172] [PUBMED:10579918]
Oncogenic MAPK signaling [NCBI:1457781] [REACTOME:R-HSA-6802957] [PUBMED:25907612] [PUBMED:24651010] [PUBMED:24202393] [PUBMED:25435214] [PUBMED:21993244] [PUBMED:24814062] [PUBMED:22589270]
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases [NCBI:1383029] [REACTOME:R-HSA-8849471] [PUBMED:18829532] [PUBMED:17483331] [PUBMED:22084245] [PUBMED:15572663]
Prolonged ERK activation events [NCBI:1269469] [REACTOME:R-HSA-169893] [PUBMED:12765839] [PUBMED:9069267]
RAF/MAP kinase cascade [NCBI:1269285] [REACTOME:R-HSA-5673001] [PUBMED:21167873] [PUBMED:24937142] [PUBMED:20674547] [PUBMED:17496910] [PUBMED:22177953] [PUBMED:17496919] [PUBMED:22569528] [PUBMED:22535895] [PUBMED:12068308] [PUBMED:17496923] [PUBMED:19091303] [PUBMED:21372320] [PUBMED:21388974] [PUBMED:15520807]
RAS signaling downstream of NF1 loss-of-function variants [NCBI:1457787] [REACTOME:R-HSA-6802953] [PUBMED:24814062] [PUBMED:25877329] [PUBMED:19467855] [PUBMED:23443682]
RET signaling [NCBI:1427866] [REACTOME:R-HSA-8853659] [PUBMED:15013219] [PUBMED:17036197]
Ras signaling pathway [NCBI:868085] [KEGG:hsa04014] [PUBMED:23506953] [PUBMED:18437264] [PUBMED:15062121] [PUBMED:22189424] [PUBMED:22233291] [PUBMED:12778136] [PUBMED:11313946] [PUBMED:17428555] [PUBMED:19091743] [PUBMED:18568040] [PUBMED:20420946] [PUBMED:12217381] [PUBMED:14663478] [PUBMED:21686117] [PUBMED:12642680] [PUBMED:21196257] [PUBMED:16869784] [PUBMED:21111786] [PUBMED:16966426] [PUBMED:10712923] [PUBMED:22020205] [PUBMED:17384584] [PUBMED:15572660] [PUBMED:18413813]
Regulation of RAS by GAPs [NCBI:1269290] [REACTOME:R-HSA-5658442] [PUBMED:23443682]
SHC1 events in EGFR signaling [NCBI:1269383] [REACTOME:R-HSA-180336] [PUBMED:11498013] [PUBMED:8755247]
SOS-mediated signalling [NCBI:1269440] [REACTOME:R-HSA-112412]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by EGFR [NCBI:1269380] [REACTOME:R-HSA-177929] [PUBMED:10459005] [PUBMED:10404636] [PUBMED:12297041] [PUBMED:15142631]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
Signaling by Insulin receptor [NCBI:1269428] [REACTOME:R-HSA-74752] [PUBMED:8276779]
Signaling by Interleukins [NCBI:1269318] [REACTOME:R-HSA-449147] [PUBMED:19302047] [PUBMED:12445398]
Signaling by Leptin [NCBI:1269632] [REACTOME:R-HSA-2586552] [PUBMED:22211890] [PUBMED:23562747] [PUBMED:20600241] [PUBMED:21622208] [PUBMED:23579596] [PUBMED:22458591] [PUBMED:21489811] [PUBMED:19724019] [PUBMED:21331644] [PUBMED:22448029] [PUBMED:21147620] [PUBMED:20198122] [PUBMED:21677426] [PUBMED:20029269] [PUBMED:22249808] [PUBMED:22991412] [PUBMED:21527729] [PUBMED:17937601] [PUBMED:20553370] [PUBMED:21713385] [PUBMED:23565489] [PUBMED:22289780]
Signaling by PDGF [NCBI:1269478] [REACTOME:R-HSA-186797] [PUBMED:15207811] [PUBMED:10508235] [PUBMED:9739761]
Signaling by PTK6 [NCBI:1383025] [REACTOME:R-HSA-8848021] [PUBMED:15539407] [PUBMED:15572663] [PUBMED:25999240] [PUBMED:20929863] [PUBMED:23352614] [PUBMED:20554524] [PUBMED:23814047] [PUBMED:21205088] [PUBMED:18172307] [PUBMED:25897081] [PUBMED:18829532] [PUBMED:24788754] [PUBMED:25019382] [PUBMED:8940083] [PUBMED:19393627] [PUBMED:18719096] [PUBMED:22547065] [PUBMED:21847121] [PUBMED:19439179] [PUBMED:22231447] [PUBMED:25733683] [PUBMED:20606012] [PUBMED:18077133] [PUBMED:15471878] [PUBMED:20687930] [PUBMED:23928995] [PUBMED:16179349] [PUBMED:26247733] [PUBMED:11114724] [PUBMED:17483331] [PUBMED:22084245] [PUBMED:10913193]
Signaling by RAS mutants [NCBI:1457782] [REACTOME:R-HSA-6802949] [PUBMED:21993244] [PUBMED:22589270] [PUBMED:24651010]
Signaling by SCF-KIT [NCBI:1269487] [REACTOME:R-HSA-1433557] [PUBMED:17350321] [PUBMED:16483568] [PUBMED:7688988] [PUBMED:19540337] [PUBMED:16475976] [PUBMED:15526160]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22044904] [PUBMED:22649417]
Signaling by VEGF [NCBI:1269480] [REACTOME:R-HSA-194138] [PUBMED:15585754] [PUBMED:13678960] [PUBMED:16336962] [PUBMED:16835467]
Signalling by NGF [NCBI:1269443] [REACTOME:R-HSA-166520]
Signalling to ERKs [NCBI:1269464] [REACTOME:R-HSA-187687] [PUBMED:10508738]
Signalling to RAS [NCBI:1269465] [REACTOME:R-HSA-167044] [PUBMED:11520933]
Signalling to p38 via RIT and RIN [NCBI:1269468] [REACTOME:R-HSA-187706] [PUBMED:10712923]
Syndecan-2-mediated signaling events [NCBI:138031] [Pathway Interaction Database:syndecan_2_pathway] [PUBMED:17623663] [PUBMED:11373281] [PUBMED:16357320] [PUBMED:12507425] [PUBMED:16945929] [PUBMED:14976204] [PUBMED:10772816] [PUBMED:10843988] [PUBMED:8528141] [PUBMED:15936998] [PUBMED:10734053] [PUBMED:11179419] [PUBMED:9660868] [PUBMED:16198615] [PUBMED:9660869] [PUBMED:15752734] [PUBMED:10446183] [PUBMED:11580899] [PUBMED:17548511] [PUBMED:11931647] [PUBMED:16139226] [PUBMED:16008343] [PUBMED:14527339] [PUBMED:16997272] [PUBMED:10639336] [PUBMED:16440330] [PUBMED:11018053] [PUBMED:10704377] [PUBMED:9244383] [PUBMED:12860416]
VEGFA-VEGFR2 Pathway [NCBI:1269483] [REACTOME:R-HSA-4420097] [PUBMED:17344076] [PUBMED:16633338] [PUBMED:19230644] [PUBMED:13678960]
VEGFR2 mediated cell proliferation [NCBI:1269485] [REACTOME:R-HSA-5218921] [PUBMED:22866201] [PUBMED:22180219] [PUBMED:22762016]