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Підтримка
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NF1 англ Neurofibromin 1 білок який кодується однойменним геном розташованим у людей на короткому плечі 17 ї хромосоми Д

NF1

NF1

NF1 (англ. Neurofibromin 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми. Довжина поліпептидного ланцюга білка становить 2 839 амінокислот, а молекулярна маса — 319 372.

NF1
image
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи NF1, NFNS, VRNF, WSS, neurofibromin 1
Зовнішні ІД OMIM: 613113 MGI: 97306 HomoloGene: 141252 GeneCards: NF1
Пов'язані генетичні захворювання
juvenile myelomonocytic leukemia, Watson syndrome, колоректальний рак, hereditary pheochromocytoma-paraganglioma, нейрофіброматоз
Ортологи
Види Людина Миша
Entrez
4763
18015
Ensembl
ENSG00000196712
ENSMUSG00000020716
UniProt
P21359
Q04690
RefSeq (мРНК)
NM_000267
NM_001042492
NM_001128147
NM_010897
RefSeq (білок)
NP_000258
NP_001035957
NP_001121619
NP_035027
Локус (UCSC) Хр. 17: 31.09 – 31.38 Mb Хр. 11: 79.23 – 79.47 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYK
FSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKD
TMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNF
NAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFK
FKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLF
DLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMV
VDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQ
NSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA
VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLI
HADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALL
VLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEEL
LRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDT
EAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMST
GRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKME
DGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGV
CLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQ
VLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVR
VLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVM
GTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKS
QLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMS
NLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSR
HLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKL
LDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAI
ISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQN
SIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIA
NHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS
DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPE
HKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSK
AGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGP
SNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGL
KGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKD
TKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT
LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDV
PGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCI
PANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMT
PWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSL
GQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKV
IGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL
PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLR
LSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALT
SLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALV
VFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTK
LQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRI
FNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH
PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVR
SRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGS
EGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISD
TKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSE
SNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVF
PKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT
SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEET
SEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVE
LSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV

Кодований геном білок за функціями належить до , фосфопротеїнів. Задіяний у таких біологічних процесах, як ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з ліпідами. Локалізований у ядрі.

Література

  • Suzuki H., Takahashi K., Kubota Y., Shibahara S. (1992). Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein. Biochem. Biophys. Res. Commun. 187: 984—990. PMID 1339276 DOI:10.1016/0006-291X(92)91294-Z
  • Suzuki H., Takahashi K., Shibahara S. (1995). Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1. Tohoku J. Exp. Med. 175: 225—233. PMID 7570581 DOI:10.1620/tjem.175.225
  • Suzuki Y., Suzuki H., Kayama T., Yoshimoto T., Shibahara S. (1991). Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem. Biophys. Res. Commun. 181: 955—961. PMID 1662505 DOI:10.1016/0006-291X(91)92029-J
  • Skuse G.R., Cappione A.J., Sowden M., Metheny L.J., Smith H.C. (1996). The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing. Nucleic Acids Res. 24: 478—485. PMID 8602361 DOI:10.1093/nar/24.3.478
  • Upadhyaya M., Shaw D.J., Harper P.S. (1994). Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum. Mutat. 4: 83—101. PMID 7981724 DOI:10.1002/humu.1380040202
  • Shen M.H., Harper P.S., Upadhyaya M. (1996). Molecular genetics of neurofibromatosis type 1 (NF1). J. Med. Genet. 33: 2—17. PMID 8825042 DOI:10.1136/jmg.33.1.2

Примітки

  1. Захворювання, генетично пов'язані з NF1 переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. (англ.) . Архів оригіналу за 30 квітня 2017. Процитовано 12 вересня 2017.
  5. (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 12 вересня 2017.

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NF1 angl Neurofibromin 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 17 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 2 839 aminokislot a molekulyarna masa 319 372 NF1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2D4Q 2E2X 3P7Z 3PEG 3PG7IdentifikatoriSimvoliNF1 NFNS VRNF WSS neurofibromin 1Zovnishni ID OMIM 613113 MGI 97306 HomoloGene 141252 GeneCards NF1Pov yazani genetichni zahvoryuvannyajuvenile myelomonocytic leukemia Watson syndrome kolorektalnij rak hereditary pheochromocytoma paraganglioma nejrofibromatoz Ontologiya genaMolekulyarna funkciya phosphatidylcholine binding GO 0001948 GO 0016582 protein binding phosphatidylethanolamine binding lipid binding GO 0005097 GO 0005099 GO 0005100 GTPase activator activityKlitinna komponenta gialoplazma membrana intrinsic component of the cytoplasmic side of the plasma membrane yaderce akson dendrit nejrobiologiya presynapse citoplazma klitinne yadroBiologichnij proces cellular response to heat regulation of angiogenesis negative regulation of cell matrix adhesion positive regulation of extrinsic apoptotic signaling pathway in absence of ligand observational learning negative regulation of cell population proliferation negative regulation of astrocyte differentiation regulation of long term neuronal synaptic plasticity regulation of MAPK cascade GO 0043087 GO 0032313 GO 0032319 GO 0032314 GO 0043088 regulation of GTPase activity glutamate secretion neurotransmission amygdala development negative regulation of Rac protein signal transduction neural tube development kognitivnist negative regulation of cell migration regulyaciya ekspresiyi geniv positive regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of neurotransmitter secretion positive regulation of endothelial cell proliferation gamma aminobutyric acid secretion neurotransmission negative regulation of osteoclast differentiation negative regulation of endothelial cell proliferation regulation of blood vessel endothelial cell migration regulation of cell population proliferation regulation of long term synaptic potentiation negative regulation of angiogenesis skeletal muscle tissue development regulation of synaptic transmission GABAergic extrinsic apoptotic signaling pathway via death domain receptors GO 0072468 signalna transdukciya GO 0032320 GO 0032321 GO 0032855 GO 0043089 GO 0032854 positive regulation of GTPase activity Schwann cell development adrenal gland development spinal cord development MAPK cascade phosphatidylinositol 3 kinase signaling heart development positive regulation of neuron apoptotic process peripheral nervous system development Zagoyennya ran sympathetic nervous system development osteoblast differentiation positive regulation of apoptotic process negative regulation of fibroblast proliferation forebrain astrocyte development metanephros development negative regulation of MAP kinase activity pigmentation liver development visual learning regulation of glial cell differentiation artery morphogenesis positive regulation of adenylate cyclase activity negative regulation of Ras protein signal transduction regulation of bone resorption extracellular matrix organization actin cytoskeleton organization cerebral cortex development negative regulation of protein kinase activity Ras protein signal transduction forebrain morphogenesis negative regulation of oligodendrocyte differentiation regulation of cell matrix adhesion smooth muscle tissue development brain development collagen fibril organization myelination in peripheral nervous system camera type eye morphogenesis cell communication response to hypoxia negative regulation of neuroblast proliferation negative regulation of MAPK cascade hair follicle maturation negative regulation of protein import into nucleusDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez4763 18015Ensembl ENSG00000196712 ENSMUSG00000020716UniProt P21359 Q04690RefSeq mRNK NM 000267 NM 001042492 NM 001128147NM 010897RefSeq bilok NP 000258 NP 001035957 NP 001121619NP 035027Lokus UCSC Hr 17 31 09 31 38 MbHr 11 79 23 79 47 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYK FSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKD TMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNF NAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFK FKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLF DLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMV VDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQ NSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLI HADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALL VLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEEL LRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDT EAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMST GRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKME DGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGV CLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQ VLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVR VLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVM GTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKS QLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMS NLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSR HLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKL LDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAI ISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQN SIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIA NHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPE HKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSK AGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGP SNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGL KGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKD TKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDV PGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCI PANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMT PWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSL GQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKV IGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLR LSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALT SLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALV VFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTK LQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRI FNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVR SRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGS EGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISD TKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSE SNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVF PKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEET SEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVE LSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z lipidami Lokalizovanij u yadri LiteraturaSuzuki H Takahashi K Kubota Y Shibahara S 1992 Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase activating protein Biochem Biophys Res Commun 187 984 990 PMID 1339276 DOI 10 1016 0006 291X 92 91294 Z Suzuki H Takahashi K Shibahara S 1995 Evidence for the presence of two amino terminal isoforms of neurofibromin a gene product responsible for neurofibromatosis type 1 Tohoku J Exp Med 175 225 233 PMID 7570581 DOI 10 1620 tjem 175 225 Suzuki Y Suzuki H Kayama T Yoshimoto T Shibahara S 1991 Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein related domain Biochem Biophys Res Commun 181 955 961 PMID 1662505 DOI 10 1016 0006 291X 91 92029 J Skuse G R Cappione A J Sowden M Metheny L J Smith H C 1996 The neurofibromatosis type I messenger RNA undergoes base modification RNA editing Nucleic Acids Res 24 478 485 PMID 8602361 DOI 10 1093 nar 24 3 478 Upadhyaya M Shaw D J Harper P S 1994 Molecular basis of neurofibromatosis type 1 NF1 mutation analysis and polymorphisms in the NF1 gene Hum Mutat 4 83 101 PMID 7981724 DOI 10 1002 humu 1380040202 Shen M H Harper P S Upadhyaya M 1996 Molecular genetics of neurofibromatosis type 1 NF1 J Med Genet 33 2 17 PMID 8825042 DOI 10 1136 jmg 33 1 2PrimitkiZahvoryuvannya genetichno pov yazani z NF1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 30 kvitnya 2017 Procitovano 12 veresnya 2017 angl Arhiv originalu za 17 veresnya 2017 Procitovano 12 veresnya 2017 Div takozhHromosoma 17 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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