NF1
entrez
4763
canonical
uniprot
P21359
canonical
ensembl
ENSG00000196712
resolver
ensp
ENSP00000348498
resolver
ensp
ENSP00000351015
resolver
ensp
ENSP00000412921
resolver
genesymbol
NF1
resolver
hgnc
HGNC:7765
resolver
uniprot
O00662
resolver
uniprot
Q14284
resolver
uniprot
Q14930
resolver
uniprot
Q14931
resolver
uniprot
Q9UMK3
resolver
uniprot_entry
NF1_HUMAN
resolver
uniprot_sec
O00662
resolver
uniprot_sec
Q14284
resolver
uniprot_sec
Q14930
resolver
uniprot_sec
Q14931
resolver
uniprot_sec
Q9UMK3
resolver
amino_acid_sequence
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV
uniprot
proteins
disease_involvement
DISEASE: Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. {ECO:0000269|PubMed:10220149, ECO:0000269|PubMed:10336779, ECO:0000269|PubMed:10607834, ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:11258625, ECO:0000269|PubMed:11735023, ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:12552569, ECO:0000269|PubMed:12746402, ECO:0000269|PubMed:1302608, ECO:0000269|PubMed:15060124, ECO:0000269|PubMed:15146469, ECO:0000269|PubMed:15520408, ECO:0000269|PubMed:15523642, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:17160901, ECO:0000269|PubMed:21089070, ECO:0000269|PubMed:2114220, ECO:0000269|PubMed:21838856, ECO:0000269|PubMed:23758643, ECO:0000269|PubMed:24413922, ECO:0000269|PubMed:7981679, ECO:0000269|PubMed:8081387, ECO:0000269|PubMed:8544190, ECO:0000269|PubMed:8807336, ECO:0000269|PubMed:8834249, ECO:0000269|PubMed:9003501, ECO:0000269|PubMed:9101300, ECO:0000269|PubMed:9150739, ECO:0000269|PubMed:9298829, ECO:0000269|PubMed:9668168}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Watson syndrome (WTSN) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269|PubMed:11704931}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. {ECO:0000269|PubMed:12707950, ECO:0000269|PubMed:16380919, ECO:0000269|PubMed:19845691}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.
uniprot
proteins
mass_dalton
319372
uniprot
proteins
mutagenesis
MUTAGEN 1691; /note="K->A: Reduces phospholipid binding; when associated with A-1695; A-1769 and A-1771."; /evidence="ECO:0000269|PubMed:16397625"; MUTAGEN 1695; /note="R->A: Reduces phospholipid binding; when associated with A-1691; A-1769 and A-1771."; /evidence="ECO:0000269|PubMed:16397625"; MUTAGEN 1769; /note="R->A: Reduces phospholipid binding; when associated with A-1691; A-1695 and A-1771."; /evidence="ECO:0000269|PubMed:16397625"; MUTAGEN 1771; /note="K->A: Reduces phospholipid binding; when associated with A-1691; A-169 and A-1769."; /evidence="ECO:0000269|PubMed:16397625, ECO:0000269|PubMed:21089070"; MUTAGEN 1771; /note="Missing: Reduces protein stability."; /evidence="ECO:0000269|PubMed:16397625, ECO:0000269|PubMed:21089070
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by RNF7/RBX2, leading to its degradation. {ECO:0000250|UniProtKB:Q04690}.
uniprot
proteins
pubmed
10220149
uniprot
proteins
pubmed
10336779
uniprot
proteins
pubmed
10607834
uniprot
proteins
pubmed
10712197
uniprot
proteins
pubmed
10980545
uniprot
proteins
pubmed
11258625
uniprot
proteins
pubmed
11704931
uniprot
proteins
pubmed
11727199
uniprot
proteins
pubmed
11735023
uniprot
proteins
pubmed
11857752
uniprot
proteins
pubmed
12522551
uniprot
proteins
pubmed
12552569
uniprot
proteins
pubmed
12707950
uniprot
proteins
pubmed
12746402
uniprot
proteins
pubmed
1302608
uniprot
proteins
pubmed
1339276
uniprot
proteins
pubmed
1457041
uniprot
proteins
pubmed
14988005
uniprot
proteins
pubmed
15060124
uniprot
proteins
pubmed
15146469
uniprot
proteins
pubmed
15520408
uniprot
proteins
pubmed
15523642
uniprot
proteins
pubmed
1568247
uniprot
proteins
pubmed
15948193
uniprot
proteins
pubmed
16380919
uniprot
proteins
pubmed
16397625
uniprot
proteins
pubmed
1662505
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17160901
uniprot
proteins
pubmed
17187824
uniprot
proteins
pubmed
1783401
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
1923522
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19845691
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21089070
uniprot
proteins
pubmed
2114220
uniprot
proteins
pubmed
2116237
uniprot
proteins
pubmed
2121370
uniprot
proteins
pubmed
2121371
uniprot
proteins
pubmed
2125369
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2134734
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21838856
uniprot
proteins
pubmed
22108604
uniprot
proteins
pubmed
23027611
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23758643
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24413922
uniprot
proteins
pubmed
34626534
uniprot
proteins
pubmed
7570581
uniprot
proteins
pubmed
7774960
uniprot
proteins
pubmed
7904209
uniprot
proteins
pubmed
7981679
uniprot
proteins
pubmed
7981724
uniprot
proteins
pubmed
8081387
uniprot
proteins
pubmed
8317503
uniprot
proteins
pubmed
8417346
uniprot
proteins
pubmed
8544190
uniprot
proteins
pubmed
8602361
uniprot
proteins
pubmed
8807336
uniprot
proteins
pubmed
8825042
uniprot
proteins
pubmed
8834249
uniprot
proteins
pubmed
9002664
uniprot
proteins
pubmed
9003501
uniprot
proteins
pubmed
9101300
uniprot
proteins
pubmed
9150739
uniprot
proteins
pubmed
9298829
uniprot
proteins
pubmed
9668168
uniprot
proteins
pubmed
9687500
uniprot
proteins
sequence_length
2839
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14988005}. Nucleus, nucleolus {ECO:0000269|PubMed:14988005}. Cell membrane {ECO:0000269|PubMed:34626534}.
uniprot
proteins