NKX2 1 angl NK2 homeobox 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 14 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 371 aminokislot a molekulyarna masa 38 596 5 NKX2 1IdentifikatoriSimvoliNKX2 1 Nkx2 1 AV026640 Nkx2 1 T EBP Titf1 Ttf 1 BCH BHC NK 2 NKX2A TEBP TTF1 NMTC1 NK2 homeobox 1Zovnishni ID OMIM 600635 MGI 108067 HomoloGene 2488 GeneCards NKX2 1Pov yazani genetichni zahvoryuvannyaHoreya hvoroba brain lung thyroid syndrome 1 Ontologiya genaMolekulyarna funkciya DNA binding sequence specific DNA binding GO 0001948 GO 0016582 protein binding enzyme binding RNA polymerase II transcription regulatory region sequence specific DNA binding intronic transcription regulatory region sequence specific DNA binding GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity transcription factor activity RNA polymerase II distal enhancer sequence specific binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specific GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA bindingKlitinna komponenta Nukleoplazma klitinne yadro transcription regulator complexBiologichnij proces GO 0009373 regulation of transcription DNA templated ritmichnij proces negative regulation of transforming growth factor beta receptor signaling pathway transcription DNA templated GO 1901313 positive regulation of gene expression negative regulation of cell migration response to hormone forebrain development epithelial tube branching involved in lung morphogenesis negative regulation of epithelial to mesenchymal transition GO 1901227 negative regulation of transcription by RNA polymerase II neuron migration GO 0044324 GO 0003256 GO 1901213 GO 0046019 GO 0046020 GO 1900094 GO 0061216 GO 0060994 GO 1902064 GO 0003258 GO 0072212 regulation of transcription by RNA polymerase II phospholipid metabolic process pattern specification process axon guidance brain development endoderm development locomotory behavior animal organ morphogenesis telencephalon development globus pallidus development hippocampus development cerebral cortex cell migration forebrain dorsal ventral pattern formation forebrain neuron fate commitment forebrain neuron differentiation cerebral cortex GABAergic interneuron differentiation cerebral cortex neuron differentiation pituitary gland development telencephalon cell migration lung development thyroid gland development developmental induction Leydig cell differentiation positive regulation of circadian rhythm GO 0045996 negative regulation of transcription DNA templated GO 0060469 GO 0009371 positive regulation of transcription DNA templated GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II anatomical structure formation involved in morphogenesis neuron fate commitment oligodendrocyte differentiation lung saccule development club cell differentiation type II pneumocyte differentiation Diferenciaciya klitinDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez7080 21869Ensembl ENSG00000136352 ENSMUSG00000001496UniProt P43699 P50220RefSeq mRNK NM 001079668NM 003317NM 001146198NM 009385RefSeq bilok NP 001073136NP 003308NP 033411NP 001390509Lokus UCSC Hr 14 36 52 36 52 MbHr 12 56 58 56 58 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTWA 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 represoriv aktivatoriv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi biologichni ritmi alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri Literatura red Oguchi H Pan Y T Kimura S 1995 The complete nucleotide sequence of the mouse thyroid specific enhancer binding protein T EBP gene extensive identity of the deduced amino acid sequence with the human protein Biochim Biophys Acta 1261 304 306 PubMed DOI 10 1016 0167 4781 95 00033 D Saiardi A Tassi V de Filippis V Civitareale D 1995 Cloning and sequence analysis of human thyroid transcription factor 1 Biochim Biophys Acta 1261 307 310 PubMed DOI 10 1016 0167 4781 95 00034 E The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Doyle D A Gonzalez I Thomas B Scavina M 2004 Autosomal dominant transmission of congenital hypothyroidism neonatal respiratory distress and ataxia caused by a mutation of NKX2 1 J Pediatr 145 190 193 PubMed DOI 10 1016 j jpeds 2004 04 011 Williamson S Kirkpatrick M Greene S Goudie D 2014 A novel mutation of NKX2 1 affecting 2 generations with hypothyroidism and choreoathetosis part of the spectrum of brain thyroid lung syndrome J Child Neurol 29 666 669 PubMed DOI 10 1177 0883073813518243Primitki red Zahvoryuvannya genetichno pov yazani z NKX2 1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 11825 angl Arhiv originalu za 26 bereznya 2016 Procitovano 11 veresnya 2017 UniProt P43699 angl Arhiv originalu za 29 serpnya 2017 Procitovano 11 veresnya 2017 Div takozh red Hromosoma 14 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title NKX2 1 amp oldid 38132480
