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SMARCA4 англ SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a member 4 білок який ко

SMARCA4

SMARCA4

SMARCA4 (англ. SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 19-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 647 амінокислот, а молекулярна маса — 184 646.

SMARCA4
image
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи SMARCA4, BAF190, BAF190A, BRG1, MRD16, RTPS2, SNF2, SNF2L4, SNF2LB, SWI2, hSNF2b, CSS4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Зовнішні ІД OMIM: 603254 MGI: 88192 HomoloGene: 135927 GeneCards: SMARCA4
Пов'язані генетичні захворювання
ішемічна хвороба серця, Coffin-Siris syndrome 4, rhabdoid tumor predisposition syndrome
Шаблон експресії
image

image

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Більше даних
Ортологи
Види Людина Миша
Entrez
6597
20586
Ensembl
ENSG00000127616
ENSMUSG00000032187
UniProt
P51532
Q9HBD4
Q3TKT4
RefSeq (мРНК)
NM_001174078
NM_001174079
NM_011417
NM_001357764
RefSeq (білок)
NP_001167549
NP_001167550
NP_035547
NP_001344693
Локус (UCSC) Хр. 19: 10.96 – 11.07 Mb Хр. 9: 21.53 – 21.62 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPP
SAGHPIPTQGPGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRS
GGHAGMGPPPSPMDQHSQGYPSPLGGSEHASSPVPASGPSSGPQMSSGPG
GAPLDGADPQALGQQNRGPTPFNQNQLHQLRAQIMAYKMLARGQPLPDHL
QMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGPGPGPAPPNYS
RPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQS
RITPIQKPRGLDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKA
TIELKALRLLNFQRQLRQEVVVCMRRDTALETALNAKAYKRSKRQSLREA
RITEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVTGKIQKL
TKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRKLIDQKKDKRL
AYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYE
VAPRSDSEESGSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSE
VDARHIIENAKQDVDDEYGVSQALARGLQSYYAVAHAVTERVDKQSALMV
NGVLKQYQIKGLEWLVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHK
RINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAARRAFVPQLRS
GKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMT
GEKVDLNEEETILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDM
SALQRVLYRHMQAKGVLLTDGSEKDKKGKGGTKTLMNTIMQLRKICNHPY
MFQHIEESFSEHLGFTGGIVQGLDLYRASGKFELLDRILPKLRATNHKVL
LFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLKTFNEPGSEYF
IFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAI
LEHEEQDESRHCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDE
TVNQMIARHEEEFDLFMRMDLDRRREEARNPKRKPRLMEEDELPSWIIKD
DAEVERLTCEEEEEKMFGRGSRHRKEVDYSDSLTEKQWLKAIEEGTLEEI
EEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQKKRGRPPAEK
LSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDS
IVLQSVFTSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLG
RKEKAQDRLKGGRRRPSRGSRAKPVVSDDDSEEEQEEDRSGSGSEED

Кодований геном білок за функціями належить до репресорів, гідролаз, активаторів, геліказ, , фосфопротеїнів. Задіяний у таких біологічних процесах, як транскрипція, регуляція транскрипції, нейрогенез, ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами. Локалізований у ядрі.

Література

  • Khavari P.A., Peterson C.L., Tamkun J.W., Mendel D.B., Crabtree G.R. (1993). BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription. Nature. 366: 170—174. PMID 8232556 DOI:10.1038/366170a0
  • Chiba H., Muramatsu M., Nomoto A., Kato H. (1994). Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. Nucleic Acids Res. 22: 1815—1820. PMID 8208605 DOI:10.1093/nar/22.10.1815
  • Fryer C.J., Archer T.K. (1998). Chromatin remodelling by the glucocorticoid receptor requires the BRG1 complex. Nature. 393: 88—91. PMID 9590696 DOI:10.1038/30032
  • Park J., Wood M.A., Cole M.D. (2002). BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation. Mol. Cell. Biol. 22: 1307—1316. PMID 11839798 DOI:10.1128/MCB.22.5.1307-1316.2002
  • Hsiao P.W., Fryer C.J., Trotter K.W., Wang W., Archer T.K. (2003). BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. Mol. Cell. Biol. 23: 6210—6220. PMID 12917342 DOI:10.1128/MCB.23.17.6210-6220.2003
  • Liu K., Luo Y., Lin F.-T., Lin W.-C. (2004). TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. Genes Dev. 18: 673—686. PMID 15075294 DOI:10.1101/gad.1180204

Примітки

  1. Захворювання, генетично пов'язані з SMARCA4 переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. HUGO Gene Nomenclature Commitee, HGNC:11100 (англ.) . Процитовано 12 вересня 2017.
  5. (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 12 вересня 2017.

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SMARCA4 angl SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a member 4 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 19 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 1 647 aminokislot a molekulyarna masa 184 646 SMARCA4Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2GRC 2H60 3UVD 5DKD 5EA1IdentifikatoriSimvoliSMARCA4 BAF190 BAF190A BRG1 MRD16 RTPS2 SNF2 SNF2L4 SNF2LB SWI2 hSNF2b CSS4 SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a member 4Zovnishni ID OMIM 603254 MGI 88192 HomoloGene 135927 GeneCards SMARCA4Pov yazani genetichni zahvoryuvannyaishemichna hvoroba sercya Coffin Siris syndrome 4 rhabdoid tumor predisposition syndrome Ontologiya genaMolekulyarna funkciya GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding nucleotide binding GO 0001105 transcription coactivator activity ATP dependent activity acting on DNA GO 0001187 RNA polymerase I core promoter sequence specific DNA binding GO 0008026 helicase activity GO 0001106 transcription corepressor activity protein N terminus binding GO 0031493 histone binding p53 binding transcription factor binding Tat protein binding DNA polymerase binding hydrolase activity acting on acid anhydrides ATPase activity GO 0001948 GO 0016582 protein binding androgen receptor binding lysine acetylated histone binding nucleosomal DNA binding hydrolase activity ATP binding RNA binding DNA bindingKlitinna komponenta nBAF complex membrana SWI SNF complex nukleoplazma npBAF complex yaderce klitinne yadro mizhklitinnij prostir GO 0009327 protein containing complexBiologichnij proces positive regulation of glucose mediated signaling pathway remodelyuvannya hromatinu GO 0009373 regulation of transcription DNA templated 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 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I negative regulation of androgen receptor signaling pathway positive regulation of DNA binding transcription factor activity GO 1901227 negative regulation of transcription by RNA polymerase II transcription DNA templated nejrobiologiya rozvitku GO 0060469 GO 0009371 positive regulation of transcription DNA templated positive regulation of Wnt signaling pathway GO 1990376 negative regulation of G1 S transition of mitotic cell cycle negative regulation of cell growth positive regulation of pri miRNA transcription by RNA polymerase II positive regulation by host of viral transcription neural retina development GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II beta catenin TCF complex assembly nucleosome disassembly GO 0045996 negative regulation of transcription DNA templated GO 0031497 GO 0006336 GO 0034724 GO 0001301 GO 0007580 GO 0034652 GO 0010847 chromatin organization interleukin 7 mediated signaling pathway RNA polymerase I preinitiation complex assemblyDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez6597 20586Ensembl ENSG00000127616 ENSMUSG00000032187UniProt P51532 Q9HBD4 Q3TKT4RefSeq mRNK NM 001128844 NM 001128845 NM 001128846 NM 001128847 NM 001128848NM 001128849 NM 003072NM 001174078 NM 001174079 NM 011417 NM 001357764RefSeq bilok NP 001122316 NP 001122317 NP 001122318 NP 001122319 NP 001122320NP 001122321 NP 003063 NP 001361386 NP 001122321 1NP 001167549 NP 001167550 NP 035547 NP 001344693Lokus UCSC Hr 19 10 96 11 07 MbHr 9 21 53 21 62 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPP SAGHPIPTQGPGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRS GGHAGMGPPPSPMDQHSQGYPSPLGGSEHASSPVPASGPSSGPQMSSGPG GAPLDGADPQALGQQNRGPTPFNQNQLHQLRAQIMAYKMLARGQPLPDHL QMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGPGPGPAPPNYS RPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQS RITPIQKPRGLDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKA TIELKALRLLNFQRQLRQEVVVCMRRDTALETALNAKAYKRSKRQSLREA RITEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVTGKIQKL TKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRKLIDQKKDKRL AYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYE VAPRSDSEESGSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSE VDARHIIENAKQDVDDEYGVSQALARGLQSYYAVAHAVTERVDKQSALMV NGVLKQYQIKGLEWLVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHK RINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAARRAFVPQLRS GKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMT GEKVDLNEEETILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDM SALQRVLYRHMQAKGVLLTDGSEKDKKGKGGTKTLMNTIMQLRKICNHPY MFQHIEESFSEHLGFTGGIVQGLDLYRASGKFELLDRILPKLRATNHKVL LFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLKTFNEPGSEYF IFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAI LEHEEQDESRHCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDE TVNQMIARHEEEFDLFMRMDLDRRREEARNPKRKPRLMEEDELPSWIIKD DAEVERLTCEEEEEKMFGRGSRHRKEVDYSDSLTEKQWLKAIEEGTLEEI EEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQKKRGRPPAEK LSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDS IVLQSVFTSVRQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLG RKEKAQDRLKGGRRRPSRGSRAKPVVSDDDSEEEQEEDRSGSGSEED 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 represoriv gidrolaz aktivatoriv gelikaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi nejrogenez acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami Lokalizovanij u yadri LiteraturaKhavari P A Peterson C L Tamkun J W Mendel D B Crabtree G R 1993 BRG1 contains a conserved domain of the SWI2 SNF2 family necessary for normal mitotic growth and transcription Nature 366 170 174 PMID 8232556 DOI 10 1038 366170a0 Chiba H Muramatsu M Nomoto A Kato H 1994 Two human homologues of Saccharomyces cerevisiae SWI2 SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor Nucleic Acids Res 22 1815 1820 PMID 8208605 DOI 10 1093 nar 22 10 1815 Fryer C J Archer T K 1998 Chromatin remodelling by the glucocorticoid receptor requires the BRG1 complex Nature 393 88 91 PMID 9590696 DOI 10 1038 30032 Park J Wood M A Cole M D 2002 BAF53 forms distinct nuclear complexes and functions as a critical c Myc interacting nuclear cofactor for oncogenic transformation Mol Cell Biol 22 1307 1316 PMID 11839798 DOI 10 1128 MCB 22 5 1307 1316 2002 Hsiao P W Fryer C J Trotter K W Wang W Archer T K 2003 BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin remodeling complex for transactivation Mol Cell Biol 23 6210 6220 PMID 12917342 DOI 10 1128 MCB 23 17 6210 6220 2003 Liu K Luo Y Lin F T Lin W C 2004 TopBP1 recruits Brg1 Brm to repress E2F1 induced apoptosis a novel pRb independent and E2F1 specific control for cell survival Genes Dev 18 673 686 PMID 15075294 DOI 10 1101 gad 1180204PrimitkiZahvoryuvannya genetichno pov yazani z SMARCA4 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 11100 angl Procitovano 12 veresnya 2017 angl Arhiv originalu za 17 veresnya 2017 Procitovano 12 veresnya 2017 Div takozhHromosoma 19 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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