KEGG   Homo sapiens (human): 4763
Entry
4763              CDS       T01001                                 
Symbol
NF1, NFNS, VRNF, WSS
Name
(RefSeq) neurofibromin 1
  KO
K08052  neurofibromin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
Network
nt06526  MAPK signaling
  Element
N01597  Regulation of GF-RTK-RAS-ERK signaling, SPRED and NF1
Disease
H00523  Noonan syndrome and related disorders
H01437  Neurofibromatosis type 1
H01510  Malignant paraganglioma
H02188  Watson syndrome
H02189  Neurofibromatosis-Noonan syndrome
H02410  Myelodysplastic/myeloproliferative neoplasms
H02541  Juvenile myelomonocytic leukemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    4763 (NF1)
   04014 Ras signaling pathway
    4763 (NF1)
 09160 Human Diseases
  09176 Drug resistance: antineoplastic
   01521 EGFR tyrosine kinase inhibitor resistance
    4763 (NF1)
SSDB
Motif
Pfam: PH_NF1 RasGAP CRAL_TRIO_2 CRAL_TRIO MIF4G_like_2
Other DBs
NCBI-GeneID: 4763
NCBI-ProteinID: NP_001035957
OMIM: 613113
HGNC: 7765
Ensembl: ENSG00000196712
UniProt: P21359
Structure
Position
17:31094927..31377677
AA seq 2839 aa
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTT
ILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHF
LHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQT
DMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNP
SKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN
SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEK
PTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPE
IAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRK
GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIR
CGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDT
HAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM
TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQF
VEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVE
VMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLL
AGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLAS
LRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM
FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE
VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKA
TVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLK
LMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS
DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWS
SLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQING
DLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIY
NCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVF
HNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT
LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALL
NLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEP
HLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLIT
MTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALAS
GNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL
PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPK
FYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDI
PTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLK
GPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQ
NLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH
PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKS
LLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARK
SMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEME
TQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILY
EYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT
SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTS
PYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQ
VQKQRSAGSFKRNSIKKIV
NT seq 8520 nt   +upstreamnt  +downstreamnt
atggccgcgcacaggccggtggaatgggtccaggccgtggtcagccgcttcgacgagcag
cttccaataaaaacaggacagcagaacacacataccaaagtcagtactgagcacaacaag
gaatgtctaatcaatatttccaaatacaagttttctttggttataagcggcctcactact
attttaaagaatgttaacaatatgagaatatttggagaagctgctgaaaaaaatttatat
ctctctcagttgattatattggatacactggaaaaatgtcttgctgggcaaccaaaggac
acaatgagattagatgaaacgatgctggtcaaacagttgctgccagaaatctgccatttt
cttcacacctgtcgtgaaggaaaccagcatgcagctgaacttcggaattctgcctctggg
gttttattttctctcagctgcaacaacttcaatgcagtctttagtcgcatttctaccagg
ttacaggaattaactgtttgttcagaagacaatgttgatgttcatgatatagaattgtta
cagtatatcaatgtggattgtgcaaaattaaaacgactcctgaaggaaacagcatttaaa
tttaaagccctaaagaaggttgcgcagttagcagttataaatagcctggaaaaggcattt
tggaactgggtagaaaattatccagatgaatttacaaaactgtaccagatcccacagact
gatatggctgaatgtgcagaaaagctatttgacttggtggatggttttgctgaaagcacc
aaacgtaaagcagcagtttggccactacaaatcattctccttatcttgtgtccagaaata
atccaggatatatccaaagacgtggttgatgaaaacaacatgaataagaagttatttctg
gacagtctacgaaaagctcttgctggccatggaggaagtaggcagctgacagaaagtgct
gcaattgcctgtgtcaaactgtgtaaagcaagtacttacatcaattgggaagataactct
gtcattttcctacttgttcagtccatggtggttgatcttaagaacctgctttttaatcca
agtaagccattctcaagaggcagtcagcctgcagatgtggatctaatgattgactgcctt
gtttcttgctttcgtataagccctcacaacaaccaacactttaagatctgcctggctcag
aattcaccttctacatttcactatgtgctggtaaattcactccatcgaatcatcaccaat
tccgcattggattggtggcctaagattgatgctgtgtattgtcactcggttgaacttcga
aatatgtttggtgaaacacttcataaagcagtgcaaggttgtggagcacacccagcaata
cgaatggcaccgagtcttacatttaaagaaaaagtaacaagccttaaatttaaagaaaaa
cctacagacctggagacaagaagctataagtatcttctcttgtccatggtgaaactaatt
catgcagatccaaagctcttgctttgtaatccaagaaaacaggggcccgaaacccaaggc
agtacagcagaattaattacagggctcgtccaactggtccctcagtcacacatgccagag
attgctcaggaagcaatggaggctctgctggttcttcatcagttagatagcattgatttg
tggaatcctgatgctcctgtagaaacattttgggagattagctcacaaatgcttttttac
atctgcaagaaattaactagtcatcaaatgcttagtagcacagaaattctcaagtggttg
cgggaaatattgatctgcaggaataaatttcttcttaaaaataagcaggcagatagaagt
tcctgtcactttctccttttttacggggtaggatgtgatattccttctagtggaaatacc
agtcaaatgtccatggatcatgaagaattactacgtactcctggagcctctctccggaag
ggaaaagggaactcctctatggatagtgcagcaggatgcagcggaacccccccgatttgc
cgacaagcccagaccaaactagaagtggccctgtacatgtttctgtggaaccctgacact
gaagctgttctggttgccatgtcctgtttccgccacctctgtgaggaagcagatatccgg
tgtggggtggatgaagtgtcagtgcataacctcttgcccaactataacacattcatggag
tttgcctctgtcagcaatatgatgtcaacaggaagagcagcacttcagaaaagagtgatg
gcactgctgaggcgcattgagcatcccactgcaggaaacactgaggcttgggaagataca
catgcaaaatgggaacaagcaacaaagctaatccttaactatccaaaagccaaaatggaa
gatggccaggctgctgaaagccttcacaagaccattgttaagaggcgaatgtcccatgtg
agtggaggaggatccatagatttgtctgacacagactccctacaggaatggatcaacatg
actggcttcctttgtgcccttgggggagtgtgcctccagcagagaagcaattctggcctg
gcaacctatagcccacccatgggtccagtcagtgaacgtaagggttctatgatttcagtg
atgtcttcagagggaaacgcagatacacctgtcagcaaatttatggatcggctgttgtcc
ttaatggtgtgtaaccatgagaaagtgggacttcaaatacggaccaatgttaaggatctg
gtgggtctagaattgagtcctgctctgtatccaatgctatttaacaaattgaagaatacc
atcagcaagttttttgactcccaaggacaggttttattgactgataccaatactcaattt
gtagaacaaaccatagctataatgaagaacttgctagataatcatactgaaggcagctct
gaacatctagggcaagctagcattgaaacaatgatgttaaatctggtcaggtatgttcgt
gtgcttgggaatatggtccatgcaattcaaataaaaacgaaactgtgtcaattagttgaa
gtaatgatggcaaggagagatgacctctcattttgccaagagatgaaatttaggaataag
atggtagaatacctgacagactgggttatgggaacatcaaaccaagcagcagatgatgat
gtaaaatgtcttacaagagatttggaccaggcaagcatggaagcagtagtttcacttcta
gctggtctccctctgcagcctgaagaaggagatggtgtggaattgatggaagccaaatca
cagttatttcttaaatacttcacattatttatgaaccttttgaatgactgcagtgaagtt
gaagatgaaagtgcgcaaacaggtggcaggaaacgtggcatgtctcggaggctggcatca
ctgaggcactgtacggtccttgcaatgtcaaacttactcaatgccaacgtagacagtggt
ctcatgcactccataggcttaggttaccacaaggatctccagacaagagctacatttatg
gaagttctgacaaaaatccttcaacaaggcacagaatttgacacacttgcagaaacagta
ttggctgatcggtttgagagattggtggaactggtcacaatgatgggtgatcaaggagaa
ctccctatagcgatggctctggccaatgtggttccttgttctcagtgggatgaactagct
cgagttctggttactctgtttgattctcggcatttactctaccaactgctctggaacatg
ttttctaaagaagtagaattggcagactccatgcagactctcttccgaggcaacagcttg
gccagtaaaataatgacattctgtttcaaggtatatggtgctacctatctacaaaaactc
ctggatcctttattacgaattgtgatcacatcctctgattggcaacatgttagctttgaa
gtggatcctaccaggttagaaccatcagagagccttgaggaaaaccagcggaacctcctt
cagatgactgaaaagttcttccatgccatcatcagttcctcctcagaattcccccctcaa
cttcgaagtgtgtgccactgtttataccaggcaacttgccactccctactgaataaagct
acagtaaaagaaaaaaaggaaaacaaaaaatcagtggttagccagcgtttccctcagaac
agcatcggtgcagtaggaagtgccatgttcctcagatttatcaatcctgccattgtctca
ccgtatgaagcagggattttagataaaaagccaccacctagaatcgaaaggggcttgaag
ttaatgtcaaagatacttcagagtattgccaatcatgttctcttcacaaaagaagaacat
atgcggcctttcaatgattttgtgaaaagcaactttgatgcagcacgcaggtttttcctt
gatatagcatctgattgtcctacaagtgatgcagtaaatcatagtctttccttcataagt
gacggcaatgtgcttgctttacatcgtctactctggaacaatcaggagaaaattgggcag
tatctttccagcaacagggatcataaagctgttggaagacgaccttttgataagatggca
acacttcttgcatacctgggtcctccagagcacaaacctgtggcagatacacactggtcc
agccttaaccttaccagttcaaagtttgaggaatttatgactaggcatcaggtacatgaa
aaagaagaattcaaggctttgaaaacgttaagtattttctaccaagctgggacttccaaa
gctgggaatcctattttttattatgttgcacggaggttcaaaactggtcaaatcaatggt
gatttgctgatataccatgtcttactgactttaaagccatattatgcaaagccatatgaa
attgtagtggaccttacccataccgggcctagcaatcgctttaaaacagactttctctct
aagtggtttgttgtttttcctggctttgcttacgacaacgtctccgcagtctatatctat
aactgtaactcctgggtcagggagtacaccaagtatcatgagcggctgctgactggcctc
aaaggtagcaaaaggcttgttttcatagactgtcctgggaaactggctgagcacatagag
catgaacaacagaaactacctgctgccaccttggctttagaagaggacctgaaggtattc
cacaatgctctcaagctagctcacaaagacaccaaagtttctattaaagttggttctact
gctgtccaagtaacttcagcagagcgaacaaaagtcctagggcaatcagtctttctaaat
gacatttattatgcttcggaaattgaagaaatctgcctagtagatgagaaccagttcacc
ttaaccattgcaaaccagggcacgccgctcaccttcatgcaccaggagtgtgaagccatt
gtccagtctatcattcatatccggacccgctgggaactgtcacagcccgactctatcccc
caacacaccaagattcggccaaaagatgtccctgggacactgctcaatatcgcattactt
aatttaggcagttctgacccgagtttacggtcagctgcctataatcttctgtgtgcctta
acttgtacctttaatttaaaaatcgagggccagttactagagacatcaggtttatgtatc
cctgccaacaacaccctctttattgtctctattagtaagacactggcagccaatgagcca
cacctcacgttagaatttttggaagagtgtatttctggatttagcaaatctagtattgaa
ttgaaacacctttgtttggaatacatgactccatggctgtcaaatctagttcgtttttgc
aagcataatgatgatgccaaacgacaaagagttactgctattcttgacaagctgataaca
atgaccatcaatgaaaaacagatgtacccatctattcaagcaaaaatatggggaagcctt
gggcagattacagatctgcttgatgttgtactagacagtttcatcaaaaccagtgcaaca
ggtggcttgggatcaataaaagctgaggtgatggcagatactgctgtagctttggcttct
ggaaatgtgaaattggtttcaagcaaggttattggaaggatgtgcaaaataattgacaag
acatgcttatctccaactcctactttagaacaacatcttatgtgggatgatattgctatt
ttagcacgctacatgctgatgctgtccttcaacaattcccttgatgtggcagctcatctt
ccctacctcttccacgttgttactttcttagtagccacaggtccgctctcccttagagct
tccacacatggactggtcattaatatcattcactctctgtgtacttgttcacagcttcat
tttagtgaagagaccaagcaagttttgagactcagtctgacagagttctcattacccaaa
ttttacttgctgtttggcattagcaaagtcaagtcagctgctgtcattgccttccgttcc
agttaccgggacaggtcattctctcctggctcctatgagagagagacttttgctttgaca
tccttggaaacagtcacagaagctttgttggagatcatggaggcatgcatgagagatatt
ccaacgtgcaagtggctggaccagtggacagaactagctcaaagatttgcattccaatat
aatccatccctgcaaccaagagctcttgttgtctttgggtgtattagcaaacgagtgtct
catgggcagataaagcagataatccgtattcttagcaaggcacttgagagttgcttaaaa
ggacctgacacttacaacagtcaagttctgatagaagctacagtaatagcactaaccaaa
ttacagccacttcttaataaggactcgcctctgcacaaagccctcttttgggtagctgtg
gctgtgctgcagcttgatgaggtcaacttgtattcagcaggtaccgcacttcttgaacaa
aacctgcatactttagatagtctccgtatattcaatgacaagagtccagaggaagtattt
atggcaatccggaatcctctggagtggcactgcaagcaaatggatcattttgttggactc
aatttcaactctaactttaactttgcattggttggacaccttttaaaagggtacaggcat
ccttcacctgctattgttgcaagaacagtcagaattttacatacactactaactctggtt
aacaaacacagaaattgtgacaaatttgaagtgaatacacagagcgtggcctacttagca
gctttacttacagtgtctgaagaagttcgaagtcgctgcagcctaaaacatagaaagtca
cttcttcttactgatatttcaatggaaaatgttcctatggatacatatcccattcatcat
ggtgacccttcctataggacactaaaggagactcagccatggtcctctcccaaaggttct
gaaggataccttgcagccacctatccaactgtcggccagaccagtccccgagccaggaaa
tccatgagcctggacatggggcaaccttctcaggccaacactaagaagttgcttggaaca
aggaaaagttttgatcacttgatatcagacacaaaggctcctaaaaggcaagaaatggaa
tcagggatcacaacaccccccaaaatgaggagagtagcagaaactgattatgaaatggaa
actcagaggatttcctcatcacaacagcacccacatttacgtaaagtttcagtgtctgaa
tcaaatgttctcttggatgaagaagtacttactgatccgaagatccaggcgctgcttctt
actgttctagctacactggtaaaatataccacagatgagtttgatcaacgaattctttat
gaatacttagcagaggccagtgttgtgtttcccaaagtctttcctgttgtgcataatttg
ttggactctaagatcaacaccctgttatcattgtgccaagatccaaatttgttaaatcca
atccatggaattgtgcagagtgtggtgtaccatgaagaatccccaccacaataccaaaca
tcttacctgcaaagttttggttttaatggcttgtggcggtttgcaggaccgttttcaaag
caaacacaaattccagactatgctgagcttattgttaagtttcttgatgccttgattgac
acgtacctgcctggaattgatgaagaaaccagtgaagaatccctcctgactcccacatct
ccttaccctcctgcactgcagagccagcttagtatcactgccaaccttaacctttctaat
tccatgacctcacttgcaacttcccagcattccccaggaatcgacaaggagaacgttgaa
ctctcccctaccactggccactgtaacagtggacgaactcgccacggatccgcaagccaa
gtgcagaagcaaagaagcgctggcagtttcaaacgtaatagcattaagaagatcgtgtga

  All links  
Disease (6)   
   OMIM (6)   
Gene (18)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (55)   
   RefSeq(nuc) (3)   
   GenBank (26)   
   EMBL (26)   
3D Structure (26)   
   PDB (26)   
Protein domain (5)   
   Pfam (5)   
All databases (115)   

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