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

Gene name
NF1, NFNS, VRNF, WSS
Definition
(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
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
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: RasGAP CRAL_TRIO_2 CRAL_TRIO MOR2-PAG1_C MIF4G_like_2
Other DBs
NCBI-GeneID: 4763
NCBI-ProteinID: NP_001035957
OMIM: 613113
HGNC: 7765
Ensembl: ENSG00000196712
Vega: OTTHUMG00000132871
Pharos: P21359(Tbio)
UniProt: P21359
Structure
PDB: 

Position
17q11.2
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  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (12)   
   KEGG DISEASE (6)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (55)   
   RefSeq(nuc) (3)   
   GenBank (26)   
   EMBL (26)   
Protein domain (5)   
   Pfam (5)   
All databases (103)   

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