SOX9 (англ. SRY-box 9) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми. Довжина поліпептидного ланцюга білка становить 509 амінокислот, а молекулярна маса — 56 137.
SOX9 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | SOX9, CMD1, CMPD1, SRA1, SRXX2, SRXY10, SRY-box 9, SRY-box transcription factor 9 | ||||||||||||||||
Зовнішні ІД | OMIM: 608160 MGI: 98371 HomoloGene: 294 GeneCards: SOX9 | ||||||||||||||||
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Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 17: 72.12 – 72.13 Mb | Хр. 11: 112.67 – 112.68 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MNLLDPFMKM | TDEQEKGLSG | APSPTMSEDS | AGSPCPSGSG | SDTENTRPQE | ||||
NTFPKGEPDL | KKESEEDKFP | VCIREAVSQV | LKGYDWTLVP | MPVRVNGSSK | ||||
NKPHVKRPMN | AFMVWAQAAR | RKLADQYPHL | HNAELSKTLG | KLWRLLNESE | ||||
KRPFVEEAER | LRVQHKKDHP | DYKYQPRRRK | SVKNGQAEAE | EATEQTHISP | ||||
NAIFKALQAD | SPHSSSGMSE | VHSPGEHSGQ | SQGPPTPPTT | PKTDVQPGKA | ||||
DLKREGRPLP | EGGRQPPIDF | RDVDIGELSS | DVISNIETFD | VNEFDQYLPP | ||||
NGHPGVPATH | GQVTYTGSYG | ISSTAATPAS | AGHVWMSKQQ | APPPPPQQPP | ||||
QAPPAPQAPP | QPQAAPPQQP | AAPPQQPQAH | TLTTLSSEPG | QSQRTHIKTE | ||||
QLSPSHYSEQ | QQHSPQQIAY | SPFNLPHYSP | SYPPITRSQY | DYTDHQNSSS | ||||
YYSHAAGQGT | GLYSTFTYMN | PAQRPMYTPI | ADTSGVPSIP | QTHSPQHWEQ | ||||
PVYTQLTRP |
Задіяний у таких біологічних процесах, як транскрипція, регуляція транскрипції. Білок має сайт для зв'язування з ДНК. Локалізований у ядрі.
Література
- 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
- Cox J.J., Willatt L., Homfray T., Woods C.G. (2011). A SOX9 duplication and familial 46,XX developmental testicular disorder. N. Engl. J. Med. 364: 91—93. PMID 21208124 DOI:10.1056/NEJMc1010311
- Cameron F.J., Sinclair A.H. (1997). Mutations in SRY and SOX9: testis-determining genes. Hum. Mutat. 9: 388—395. PMID 9143916 DOI:10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0
- Thong M.-K., Scherer G., Kozlowski K., Haan E., Morris L. (2000). Acampomelic campomelic dysplasia with SOX9 mutation. Am. J. Med. Genet. 93: 421—425. PMID 10951468 DOI:10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.3.CO;2-X
- Moog U., Jansen N.J., Scherer G., Schrander-Stumpel C.T. (2001). Acampomelic campomelic syndrome. Am. J. Med. Genet. 104: 239—245. PMID 11754051 DOI:10.1002/ajmg.10033
Примітки
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 11 липня 2017. Процитовано 12 вересня 2017.
- (англ.) . Архів оригіналу за 22 серпня 2017. Процитовано 12 вересня 2017.
Див. також
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SOX9 angl SRY box 9 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 17 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 509 aminokislot a molekulyarna masa 56 137 SOX9Nayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB4EUWIdentifikatoriSimvoliSOX9 CMD1 CMPD1 SRA1 SRXX2 SRXY10 SRY box 9 SRY box transcription factor 9Zovnishni ID OMIM 608160 MGI 98371 HomoloGene 294 GeneCards SOX9Ontologiya genaMolekulyarna funkciya GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific core promoter sequence specific DNA binding protein kinase activity protein kinase A catalytic subunit binding beta catenin binding pre mRNA intronic binding chromatin binding GO 0001948 GO 0016582 protein binding DNA binding sequence specific DNA binding GO 0000975 transcription cis regulatory region binding bHLH transcription factor binding GO 0001158 cis regulatory region sequence specific DNA binding protein heterodimerization 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 klitinne yadro transcription regulator complex nukleoplazma GO 0009327 protein containing complexBiologichnij proces skeletal system development cellular response to retinoic acid bronchus cartilage development positive regulation of protein phosphorylation heart valve development limb bud formation GO 1903364 positive regulation of protein catabolic process 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 ureter morphogenesis negative regulation of immune system process chondrocyte development positive regulation of cell proliferation involved in heart morphogenesis oligodendrocyte differentiation chondrocyte hypertrophy prostate gland development lung smooth muscle development mammary gland development negative regulation of ossification negative regulation of photoreceptor cell differentiation cellular response to mechanical stimulus intrahepatic bile duct development regulation of cell adhesion negative regulation of chondrocyte differentiation positive regulation of mesenchymal cell proliferation astrocyte fate commitment positive regulation of chondrocyte differentiation Spermatogenez prostate gland morphogenesis negative regulation of epithelial cell proliferation lung epithelial cell differentiation chondrocyte differentiation involved in endochondral bone morphogenesis negative regulation of canonical Wnt signaling pathway endocrine pancreas development negative regulation of cell population proliferation regulation of apoptotic process cellular response to transforming growth factor beta stimulus negative regulation of mesenchymal cell apoptotic process remodelyuvannya hromatinu negative regulation of myoblast differentiation positive regulation of branching involved in ureteric bud morphogenesis cell fate commitment GO 0009373 regulation of transcription DNA templated epidermal growth factor receptor signaling pathway osifikaciya regulation of cell proliferation involved in tissue homeostasis ureter smooth muscle cell differentiation ERK1 and ERK2 cascade notochord development positive regulation of epithelial cell migration Sertoli cell differentiation male sex determination negative regulation of gene expression transcription DNA templated metanephric nephron tubule formation GO 0060469 GO 0009371 positive regulation of transcription DNA templated heart development regulation of branching involved in lung morphogenesis ureter urothelium development branching involved in ureteric bud morphogenesis cartilage development Harderian gland development positive regulation of kidney development central nervous system development heart valve formation positive regulation of cartilage development tissue homeostasis metanephric tubule development negative regulation of biomineral tissue development endochondral bone morphogenesis trachea cartilage development male germ line sex determination lacrimal gland development Signalnij shlyah Notch hair follicle development diferenciaciya klitin ureter development regulation of cell cycle process male gonad development positive regulation of epithelial cell proliferation cell fate specification intestinal epithelial structure maintenance positive regulation of extracellular matrix assembly extracellular matrix organization negative regulation of apoptotic process GO 1901227 negative regulation of transcription by RNA polymerase II Sertoli cell development positive regulation of mesenchymal stem cell differentiation retina development in camera type eye cellular response to interleukin 1 Epitelialno mezenhimalnij perehid homeostasis of number of cells within a tissue GO 0045996 negative regulation of transcription DNA templated cAMP mediated signaling cartilage condensation positive regulation of male gonad development nucleosome assembly negative regulation of bone mineralization morphogenesis of a branching epithelium neural crest cell development protein kinase B signaling somatic stem cell population maintenance otic vesicle formation otic vesicle development endocardial cushion morphogenesis cellular response to epidermal growth factor stimulus positive regulation of epithelial cell differentiation renal vesicle induction GO 1901313 positive regulation of gene expression regulation of epithelial cell proliferation involved in lung morphogenesis regulation of cell population proliferation heart valve morphogenesis cytoskeleton organization cochlea morphogenesis positive regulation of cell population proliferation epithelial cell proliferation involved in prostatic bud elongation retinal rod cell differentiation protein localization to nucleus regulyaciya diferenciyuvannya klitin positive regulation of phosphatidylinositol 3 kinase signaling cellular response to heparin negative regulation of epithelial cell differentiation epithelial tube branching involved in lung morphogenesis GO 0072468 signalna transdukciya GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II negative regulation of pri miRNA transcription by RNA polymerase II chondrocyte differentiation neural crest cell fate specification cellular response to BMP stimulus cell cell adhesion transcription initiation from RNA polymerase II promoter GO 0034622 protein containing complex assembly anterior head development morphogenesis of an epithelium aortic valve morphogenesis regulyaciya ekspresiyi genivDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez6662 20682Ensembl ENSG00000125398 ENSMUSG00000000567UniProt P48436 Q04887RefSeq mRNK NM 000346NM 011448RefSeq bilok NP 000337NP 035578Lokus UCSC Hr 17 72 12 72 13 MbHr 11 112 67 112 68 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishejPoslidovnist aminokislot1020304050MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTRPA 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 Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri LiteraturaThe 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 Cox J J Willatt L Homfray T Woods C G 2011 A SOX9 duplication and familial 46 XX developmental testicular disorder N Engl J Med 364 91 93 PMID 21208124 DOI 10 1056 NEJMc1010311 Cameron F J Sinclair A H 1997 Mutations in SRY and SOX9 testis determining genes Hum Mutat 9 388 395 PMID 9143916 DOI 10 1002 SICI 1098 1004 1997 9 5 lt 388 AID HUMU2 gt 3 0 CO 2 0 Thong M K Scherer G Kozlowski K Haan E Morris L 2000 Acampomelic campomelic dysplasia with SOX9 mutation Am J Med Genet 93 421 425 PMID 10951468 DOI 10 1002 1096 8628 20000828 93 5 lt 421 AID AJMG14 gt 3 3 CO 2 X Moog U Jansen N J Scherer G Schrander Stumpel C T 2001 Acampomelic campomelic syndrome Am J Med Genet 104 239 245 PMID 11754051 DOI 10 1002 ajmg 10033PrimitkiHuman PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 11 lipnya 2017 Procitovano 12 veresnya 2017 angl Arhiv originalu za 22 serpnya 2017 Procitovano 12 veresnya 2017 Div takozhHromosoma 17Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi