SOX9

SOX9
Наявні структури
PDB	Пошук ортологів: PDBe RCSB
Список кодів PDB
	4EUW
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
Онтологія гена
Молекулярна функція	• 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 binding;
Клітинна компонента	• клітинне ядро; • transcription regulator complex; • нуклеоплазма; • GO:0009327 protein-containing complex;
Біологічний процес	• 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; • Сперматогенез; • 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; • ремоделювання хроматину; • 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; • осифікація; • 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; • Сигнальний шлях Notch; • hair follicle development; • диференціація клітин; • 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; • Епітеліально-мезенхімальний перехід; • 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; • регуляція диференціювання клітин; • 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 сигнальна трансдукція; • 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; • регуляція експресії генів;
	Джерела:Amigo / QuickGO
Шаблон експресії
	; ;
	Більше даних
Ортологи
	6662
	20682
	ENSG00000125398
	ENSMUSG00000000567
	P48436
	Q04887
	NM_000346
	NM_011448
	NP_000337
	NP_035578
	Вікідані
Див./Ред. для людей	Див./Ред. для мишей

SOX9 (англ. SRY-box 9) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми.^[3] Довжина поліпептидного ланцюга білка становить 509 амінокислот, а молекулярна маса — 56 137^[4].

Послідовність амінокислот

10	20	30	40	50
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

A: Аланін
 C: Цистеїн
 D: Аспарагінова кислота
 E: Глутамінова кислота
 F: Фенілаланін
 G: Гліцин
 H: Гістидин
 I: Ізолейцин
 K: Лізин
 L: Лейцин
 M: Метіонін
 N: Аспарагін
 P: Пролін
 Q: Глутамін
 R: Аргінін
 S: Серин
 T: Треонін
 V: Валін
 W: Триптофан
 
 Y: Тирозин

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