Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4763

Name

NF1

Synonym

NFNS|VRNF|WSS;neurofibromin 1;NF1;neurofibromin 1

Definition

neurofibromatosis-related protein NF-1|neurofibromin

Position

17q11.2

Gene Type

protein-coding

Pathways and Diseases

Pathway

chromatin remodeling by hswi/snf atp-dependent complexes;PID BioCarta;100141

Pathway

MAPK signaling pathway;KEGG PATHWAY;hsa04010

Pathway

ATF-2 transcription factor network;PID Curated;200116

Pathway

EGF receptor signaling pathway;PANTHER;P00018

Pathway

FOXA2 and FOXA3 transcription factor networks;PID Curated;200073

Pathway

Syndecan-2-mediated signaling events;PID Curated;200164

Disease

Watson syndrome;OMIM

Disease

Bladder cancer;FunDO

Disease

Hemolytic-Uremic syndrome;FunDO

Disease

aberrant splicing;GAD

Disease

Leukemia, Myeloid, Acute;GAD

Disease

Neurofibromatosis;FunDO

Disease

intestinal neuronal dysplasia type B (IND B);GAD

Disease

Neurofibromatosis-Noonan syndrome;OMIM

Disease

Alopecia;FunDO

Disease

Leukemia, juvenile myelomonocytic;OMIM

Disease

Leukemia;FunDO

Disease

Dental enamel hypoplasia;FunDO

Disease

Intraocular melanoma;FunDO

Disease

Peripheral nerve sheath tumor;FunDO

Disease

PSYCH;GAD

Disease

Neurofibromatosis 1;GAD

Disease

CANCER;GAD

Disease

Brain tumor;FunDO

Disease

Gastrointestinal stromal tumor;FunDO

Disease

Mental retardation;FunDO

Disease

Bone disease;FunDO

Disease

Neurofibromatosis, type 1;OMIM

Disease

Congenital abnormality;FunDO

Disease

Melanoma, desmoplastic neurotrophic;OMIM

Disease

Autism;GAD

Disease

Neurofibromatosis, familial spinal;OMIM

External Links

Links to Entrez Gene

4763

Links to all GeneRIF Items

4763

Links to iHOP

4763

Sequence Information

Nucleotide Sequence

>4763 : length: 8457
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

Protein Sequence

>4763 : length: 2818
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



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