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SMAD4 (англ. SMAD family member 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 18-ї хромосоми. Довжина поліпептидного ланцюга білка становить 552 амінокислот, а молекулярна маса — 60 439.
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| Символи | SMAD4, DPC4, JIP, MADH4, MYHRS, SMAD family member 4 | ||||||||||||||||
| Зовнішні ІД | OMIM: 600993 MGI: 894293 HomoloGene: 31310 GeneCards: SMAD4 | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| juvenile polyposis syndrome, хвороба Рандю — Ослера, колоректальний рак, Myhre syndrome, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, pancreatic adenocarcinoma | |||||||||||||||||
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 18: 51.03 – 51.09 Mb | Хр. 18: 73.77 – 73.84 Mb | |||||||||||||||
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| MDNMSITNTP | TSNDACLSIV | HSLMCHRQGG | ESETFAKRAI | ESLVKKLKEK | ||||
| KDELDSLITA | ITTNGAHPSK | CVTIQRTLDG | RLQVAGRKGF | PHVIYARLWR | ||||
| WPDLHKNELK | HVKYCQYAFD | LKCDSVCVNP | YHYERVVSPG | IDLSGLTLQS | ||||
| NAPSSMMVKD | EYVHDFEGQP | SLSTEGHSIQ | TIQHPPSNRA | STETYSTPAL | ||||
| LAPSESNATS | TANFPNIPVA | STSQPASILG | GSHSEGLLQI | ASGPQPGQQQ | ||||
| NGFTGQPATY | HHNSTTTWTG | SRTAPYTPNL | PHHQNGHLQH | HPPMPPHPGH | ||||
| YWPVHNELAF | QPPISNHPAP | EYWCSIAYFE | MDVQVGETFK | VPSSCPIVTV | ||||
| DGYVDPSGGD | RFCLGQLSNV | HRTEAIERAR | LHIGKGVQLE | CKGEGDVWVR | ||||
| CLSDHAVFVQ | SYYLDREAGR | APGDAVHKIY | PSAYIKVFDL | RQCHRQMQQQ | ||||
| AATAQAAAAA | QAAAVAGNIP | GPGSVGGIAP | AISLSAAAGI | GVDDLRRLCI | ||||
| LRMSFVKGWG | PDYPRQSIKE | TPCWIEIHLH | RALQLLDEVL | HTMPIADPQP | ||||
| LD |
Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах, як транскрипція, регуляція транскрипції, ацетилювання. Білок має сайт для зв'язування з іонами металів, іоном цинку, ДНК. Локалізований у цитоплазмі, ядрі.
Література
- Zhang Y., Feng X.-H., Wu R.-Y., Derynck R. (1996). Receptor-associated Mad homologues synergize as effectors of the TGF-beta response. Nature. 383: 168—172. PMID 8774881 DOI:10.1038/383168a0
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- Liu F., Pouponnot C., Massague J. (1997). Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. Genes Dev. 11: 3157—3167. PMID 9389648 DOI:10.1101/gad.11.23.3157
- Kawabata M., Inoue H., Hanyu A., Imamura T., Miyazono K. (1998). Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors. EMBO J. 17: 4056—4065. PMID 9670020 DOI:10.1093/emboj/17.14.4056
- Jiao K., Zhou Y., Hogan B.L.M. (2002). Identification of mZnf8, a mouse Kruppel-like transcriptional repressor, as a novel nuclear interaction partner of Smad1. Mol. Cell. Biol. 22: 7633—7644. PMID 12370310 DOI:10.1128/MCB.22.21.7633-7644.2002
- Chen H.B., Rud J.G., Lin K., Xu L. (2005). Nuclear targeting of transforming growth factor-beta-activated Smad complexes. J. Biol. Chem. 280: 21329—21336. PMID 15799969 DOI:10.1074/jbc.M500362200
Примітки
- Захворювання, генетично пов'язані з SMAD4 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:6770 (англ.) . Архів оригіналу за 24 серпня 2017. Процитовано 12 вересня 2017. [Архівовано 2017-08-24 у Wayback Machine.]
- UniProt, Q13485 (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 12 вересня 2017.
Див. також
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SMAD4 angl SMAD family member 4 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 18 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 552 aminokislot a molekulyarna masa 60 439 5 SMAD4Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5MEY 5MEZ 5MF0IdentifikatoriSimvoliSMAD4 DPC4 JIP MADH4 MYHRS SMAD family member 4Zovnishni ID OMIM 600993 MGI 894293 HomoloGene 31310 GeneCards SMAD4Pov yazani genetichni zahvoryuvannyajuvenile polyposis syndrome hvoroba Randyu Oslera kolorektalnij rak Myhre syndrome juvenile polyposis hereditary hemorrhagic telangiectasia syndrome pancreatic adenocarcinoma 1 Ontologiya genaMolekulyarna funkciya protein homodimerization activity protein heterodimerization activity RNA polymerase II transcription regulatory region sequence specific DNA binding zv yazuvannya z ionom metalu DNA binding GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity sequence specific DNA binding GO 0001158 cis regulatory region sequence specific DNA binding GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific I SMAD binding collagen binding GO 0001948 GO 0016582 protein binding GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding R SMAD binding identical protein binding sulfate binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specific GO 0001104 transcription coregulator activity molecular function regulator chromatin bindingKlitinna komponenta klitinne yadro citoplazma transcription regulator complex activin responsive factor complex vnutrishnoklitinnij RNA polymerase II transcription regulator complex nukleoplazma centrosoma gialoplazma SMAD protein complexBiologichnij proces negative regulation of cell population proliferation Spermatogenez positive regulation of pathway restricted SMAD protein phosphorylation positive regulation of luteinizing hormone secretion regulation of cell population proliferation cardiac septum development negative regulation of cell death regulation of hair follicle development cellular response to BMP stimulus epithelial to mesenchymal transition involved in endocardial cushion formation brainstem development proliferaciya regulation of binding SMAD protein complex assembly metanephric mesenchyme morphogenesis positive regulation of epithelial to mesenchymal transition GO 0007329 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus 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 branching involved in ureteric bud morphogenesis GO 0009373 regulation of transcription DNA templated embryonic digit morphogenesis uterus development axon guidance somatic stem cell population maintenance gastrulyaciya positive regulation of histone H3 K4 methylation GO 0045996 negative regulation of transcription DNA templated response to transforming growth factor beta endothelial cell activation positive regulation of transforming growth factor beta receptor signaling pathway single fertilization transforming growth factor beta receptor signaling pathway anterior posterior pattern specification in utero embryonic development positive regulation of cell proliferation involved in heart valve morphogenesis atrioventricular valve formation GO 0007243 intracellular signal transduction developmental growth endoderm development cellular iron ion homeostasis rozvitok nirki GO 0007364 GO 0007361 GO 0007358 formation of anatomical boundary positive regulation of histone H3 K9 acetylation regulation of transforming growth factor beta2 production interleukin 6 mediated signaling pathway GO 1901227 negative regulation of transcription by RNA polymerase II male gonad development ovarian follicle development endocardial cell differentiation nephrogenic mesenchyme morphogenesis gastrulation with mouth forming second female gonad development SMAD protein signal transduction response to hypoxia atrioventricular canal development mesoderm development negative regulation of cell growth GO 0060469 GO 0009371 positive regulation of transcription DNA templated BMP signaling pathway tissue morphogenesis GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II positive regulation of SMAD protein signal transduction somite rostral caudal axis specification sebaceous gland development positive regulation of follicle stimulating hormone secretion positive regulation of BMP signaling pathway neural crest cell differentiation seminiferous tubule development female gonad morphogenesis regulation of transforming growth factor beta receptor signaling pathway neuron fate commitment transcription DNA templated outflow tract septum morphogenesis left ventricular cardiac muscle tissue morphogenesis negative regulation of cardiac muscle hypertrophy protein deubiquitination ventricular septum morphogenesis negative regulation of ERK1 and ERK2 cascade negative regulation of cardiac myofibril assembly protein homotrimerization pri miRNA transcription by RNA polymerase II secondary palate development anatomical structure morphogenesis diferenciaciya klitin mesendoderm developmentDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez4089 17128Ensembl ENSG00000141646 ENSMUSG00000024515UniProt Q13485 P97471RefSeq mRNK NM 005359NM 008540 NM 001364967 NM 001364968RefSeq bilok NP 005350NP 032566 NP 001351896 NP 001351897Lokus UCSC Hr 18 51 03 51 09 MbHr 18 73 77 73 84 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEK KDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWR WPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQS NAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPAL LAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQ NGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTV DGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQ AATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGIGVDDLRRLCI LRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQP LD 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 funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi acetilyuvannya Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom cinku DNK Lokalizovanij u citoplazmi yadri Literaturared Zhang Y Feng X H Wu R Y Derynck R 1996 Receptor associated Mad homologues synergize as effectors of the TGF beta response Nature 383 168 172 PMID 8774881 DOI 10 1038 383168a0 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Liu F Pouponnot C Massague J 1997 Dual role of the Smad4 DPC4 tumor suppressor in TGFbeta inducible transcriptional complexes Genes Dev 11 3157 3167 PMID 9389648 DOI 10 1101 gad 11 23 3157 Kawabata M Inoue H Hanyu A Imamura T Miyazono K 1998 Smad proteins exist as monomers in vivo and undergo homo and hetero oligomerization upon activation by serine threonine kinase receptors EMBO J 17 4056 4065 PMID 9670020 DOI 10 1093 emboj 17 14 4056 Jiao K Zhou Y Hogan B L M 2002 Identification of mZnf8 a mouse Kruppel like transcriptional repressor as a novel nuclear interaction partner of Smad1 Mol Cell Biol 22 7633 7644 PMID 12370310 DOI 10 1128 MCB 22 21 7633 7644 2002 Chen H B Rud J G Lin K Xu L 2005 Nuclear targeting of transforming growth factor beta activated Smad complexes J Biol Chem 280 21329 21336 PMID 15799969 DOI 10 1074 jbc M500362200Primitkired Zahvoryuvannya genetichno pov yazani z SMAD4 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 6770 angl Arhiv originalu za 24 serpnya 2017 Procitovano 12 veresnya 2017 Arhivovano 2017 08 24 u Wayback Machine UniProt Q13485 angl Arhiv originalu za 17 veresnya 2017 Procitovano 12 veresnya 2017 Div takozhred Hromosoma 18 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title SMAD4 amp oldid 44025647