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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
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 |
Source | Count: 4; Pubmed_search,TAG,UniProt,Generif |
Literature support | Count: 35 PubMed records as below. |
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Evidence Status |
Description |
reviewed | NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. |
reviewed | The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo. |
reviewed | "In addition to gains of 1q and 5p, and losses of 10p and 13q14 approximately q22, this tumor had also losses of two regions to which tumor suppressor genes are mapped: 1p36 (SDHB) and 17q11.2 (NF1)". |
reviewed | A retroviral mutagenesis screen reveals strong cooperation between Bcl11a overexpression and loss of the Nf1 tumor suppressor gene. |
reviewed | "Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2." |
reviewed | Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. |
reviewed | The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways. |
reviewed | "NF1 tumor suppressor gene is a direct transcriptional target of RUNX1 and the t(8;21) fusion protein, suggesting that suppression of NF1 expression contributes to the molecular pathogenesis of acute myeloid leukemia ." |
reviewed | The effect of extracellular calcium concentration on calcium-mediated cell signaling in NF1 tumor suppressor-deficient keratinocytes. |
reviewed | Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. |
| More detail of all 35 literatures about NF1 | |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 4763 |
Links to all GeneRIF Items | 4763 |
Links to iHOP | 4763 |
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Sequence Information |
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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 |