KEGG   Homo sapiens (human): 4763Help
Entry
4763              CDS       T01001                                 

Gene name
NF1, NFNS, VRNF, WSS
Definition
neurofibromin 1
Orthology
K08052  
neurofibromin 1
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Ras signaling pathway
Disease
H00523  
Noonan syndrome and related disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04014 Ras signaling pathway
    4763 (NF1)
   04010 MAPK signaling pathway
    4763 (NF1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
17q11.2
AA seq 2818 aa AA seqDB search
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTT
ILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHF
LHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQT
DMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNP
SKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN
SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEK
PTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPE
IAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRK
GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIR
CGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDT
HAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM
TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQF
VEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVE
VMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLL
AGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLAS
LRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM
FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE
VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQVVSQRFPQNS
IGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHM
RPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQY
LSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEK
EEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEI
VVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLK
GSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTA
VQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIV
QSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALT
CTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIEL
KHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLG
QITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKT
CLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRAS
THGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSS
YRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYN
PSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKL
QPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFM
AIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVN
KHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHG
DPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTR
KSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSES
NVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLL
DSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQ
TQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNS
MTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV
NT seq 8457 nt NT seq  +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
cttcgaagtgtgtgccactgtttataccaggtggttagccagcgtttccctcagaacagc
atcggtgcagtaggaagtgccatgttcctcagatttatcaatcctgccattgtctcaccg
tatgaagcagggattttagataaaaagccaccacctagaatcgaaaggggcttgaagtta
atgtcaaagatacttcagagtattgccaatcatgttctcttcacaaaagaagaacatatg
cggcctttcaatgattttgtgaaaagcaactttgatgcagcacgcaggtttttccttgat
atagcatctgattgtcctacaagtgatgcagtaaatcatagtctttccttcataagtgac
ggcaatgtgcttgctttacatcgtctactctggaacaatcaggagaaaattgggcagtat
ctttccagcaacagggatcataaagctgttggaagacgaccttttgataagatggcaaca
cttcttgcatacctgggtcctccagagcacaaacctgtggcagatacacactggtccagc
cttaaccttaccagttcaaagtttgaggaatttatgactaggcatcaggtacatgaaaaa
gaagaattcaaggctttgaaaacgttaagtattttctaccaagctgggacttccaaagct
gggaatcctattttttattatgttgcacggaggttcaaaactggtcaaatcaatggtgat
ttgctgatataccatgtcttactgactttaaagccatattatgcaaagccatatgaaatt
gtagtggaccttacccataccgggcctagcaatcgctttaaaacagactttctctctaag
tggtttgttgtttttcctggctttgcttacgacaacgtctccgcagtctatatctataac
tgtaactcctgggtcagggagtacaccaagtatcatgagcggctgctgactggcctcaaa
ggtagcaaaaggcttgttttcatagactgtcctgggaaactggctgagcacatagagcat
gaacaacagaaactacctgctgccaccttggctttagaagaggacctgaaggtattccac
aatgctctcaagctagctcacaaagacaccaaagtttctattaaagttggttctactgct
gtccaagtaacttcagcagagcgaacaaaagtcctagggcaatcagtctttctaaatgac
atttattatgcttcggaaattgaagaaatctgcctagtagatgagaaccagttcacctta
accattgcaaaccagggcacgccgctcaccttcatgcaccaggagtgtgaagccattgtc
cagtctatcattcatatccggacccgctgggaactgtcacagcccgactctatcccccaa
cacaccaagattcggccaaaagatgtccctgggacactgctcaatatcgcattacttaat
ttaggcagttctgacccgagtttacggtcagctgcctataatcttctgtgtgccttaact
tgtacctttaatttaaaaatcgagggccagttactagagacatcaggtttatgtatccct
gccaacaacaccctctttattgtctctattagtaagacactggcagccaatgagccacac
ctcacgttagaatttttggaagagtgtatttctggatttagcaaatctagtattgaattg
aaacacctttgtttggaatacatgactccatggctgtcaaatctagttcgtttttgcaag
cataatgatgatgccaaacgacaaagagttactgctattcttgacaagctgataacaatg
accatcaatgaaaaacagatgtacccatctattcaagcaaaaatatggggaagccttggg
cagattacagatctgcttgatgttgtactagacagtttcatcaaaaccagtgcaacaggt
ggcttgggatcaataaaagctgaggtgatggcagatactgctgtagctttggcttctgga
aatgtgaaattggtttcaagcaaggttattggaaggatgtgcaaaataattgacaagaca
tgcttatctccaactcctactttagaacaacatcttatgtgggatgatattgctatttta
gcacgctacatgctgatgctgtccttcaacaattcccttgatgtggcagctcatcttccc
tacctcttccacgttgttactttcttagtagccacaggtccgctctcccttagagcttcc
acacatggactggtcattaatatcattcactctctgtgtacttgttcacagcttcatttt
agtgaagagaccaagcaagttttgagactcagtctgacagagttctcattacccaaattt
tacttgctgtttggcattagcaaagtcaagtcagctgctgtcattgccttccgttccagt
taccgggacaggtcattctctcctggctcctatgagagagagacttttgctttgacatcc
ttggaaacagtcacagaagctttgttggagatcatggaggcatgcatgagagatattcca
acgtgcaagtggctggaccagtggacagaactagctcaaagatttgcattccaatataat
ccatccctgcaaccaagagctcttgttgtctttgggtgtattagcaaacgagtgtctcat
gggcagataaagcagataatccgtattcttagcaaggcacttgagagttgcttaaaagga
cctgacacttacaacagtcaagttctgatagaagctacagtaatagcactaaccaaatta
cagccacttcttaataaggactcgcctctgcacaaagccctcttttgggtagctgtggct
gtgctgcagcttgatgaggtcaacttgtattcagcaggtaccgcacttcttgaacaaaac
ctgcatactttagatagtctccgtatattcaatgacaagagtccagaggaagtatttatg
gcaatccggaatcctctggagtggcactgcaagcaaatggatcattttgttggactcaat
ttcaactctaactttaactttgcattggttggacaccttttaaaagggtacaggcatcct
tcacctgctattgttgcaagaacagtcagaattttacatacactactaactctggttaac
aaacacagaaattgtgacaaatttgaagtgaatacacagagcgtggcctacttagcagct
ttacttacagtgtctgaagaagttcgaagtcgctgcagcctaaaacatagaaagtcactt
cttcttactgatatttcaatggaaaatgttcctatggatacatatcccattcatcatggt
gacccttcctataggacactaaaggagactcagccatggtcctctcccaaaggttctgaa
ggataccttgcagccacctatccaactgtcggccagaccagtccccgagccaggaaatcc
atgagcctggacatggggcaaccttctcaggccaacactaagaagttgcttggaacaagg
aaaagttttgatcacttgatatcagacacaaaggctcctaaaaggcaagaaatggaatca
gggatcacaacaccccccaaaatgaggagagtagcagaaactgattatgaaatggaaact
cagaggatttcctcatcacaacagcacccacatttacgtaaagtttcagtgtctgaatca
aatgttctcttggatgaagaagtacttactgatccgaagatccaggcgctgcttcttact
gttctagctacactggtaaaatataccacagatgagtttgatcaacgaattctttatgaa
tacttagcagaggccagtgttgtgtttcccaaagtctttcctgttgtgcataatttgttg
gactctaagatcaacaccctgttatcattgtgccaagatccaaatttgttaaatccaatc
catggaattgtgcagagtgtggtgtaccatgaagaatccccaccacaataccaaacatct
tacctgcaaagttttggttttaatggcttgtggcggtttgcaggaccgttttcaaagcaa
acacaaattccagactatgctgagcttattgttaagtttcttgatgccttgattgacacg
tacctgcctggaattgatgaagaaaccagtgaagaatccctcctgactcccacatctcct
taccctcctgcactgcagagccagcttagtatcactgccaaccttaacctttctaattcc
atgacctcacttgcaacttcccagcattccccaggaatcgacaaggagaacgttgaactc
tcccctaccactggccactgtaacagtggacgaactcgccacggatccgcaagccaagtg
cagaagcaaagaagcgctggcagtttcaaacgtaatagcattaagaagatcgtgtga

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