Gene name: SOX9

Uniprot entry:

P48436

Protein names:

Transcription factor SOX-9

Protein sequence:

1_MNLLD 6_ PFMKM 11_ TDEQE 16_ KGLSG 21_ APSPT 26_ MSEDS 31_ AGSPC 36_ PSGSG 41_ SDTEN 46_ TRPQE 51_ NTFPK 56_ GEPDL 61_ KKESE 66_ EDKFP 71_ VCIRE 76_ AVSQV 81_ LKGYD 86_ WTLVP 91_ MPVRV 96_ NGSSK 101_ NKPHV 106_ KRPMN 111_ AFMVW 116_ AQAAR 121_ RKLAD 126_ QYPHL 131_ HNAEL 136_ SKTLG 141_ KLWRL 146_ LNESE 151_ KRPFV 156_ EEAER 161_ LRVQH 166_ KKDHP 171_ DYKYQ 176_ PRRRK 181_ SVKNG 186_ QAEAE 191_ EATEQ 196_ THISP 201_ NAIFK 206_ ALQAD 211_ SPHSS 216_ SGMSE 221_ VHSPG 226_ EHSGQ 231_ SQGPP 236_ TPPTT 241_ PKTDV 246_ QPGKA 251_ DLKRE 256_ GRPLP 261_ EGGRQ 266_ PPIDF 271_ RDVDI 276_ GELSS 281_ DVISN 286_ IETFD 291_ VNEFD 296_ QYLPP 301_ NGHPG 306_ VPATH 311_ GQVTY 316_ TGSYG 321_ ISSTA 326_ ATPAS 331_ AGHVW 336_ MSKQQ 341_ APPPP 346_ PQQPP 351_ QAPPA 356_ PQAPP 361_ QPQAA 366_ PPQQP 371_ AAPPQ 376_ QPQAH 381_ TLTTL 386_ SSEPG 391_ QSQRT 396_ HIKTE 401_ QLSPS 406_ HYSEQ 411_ QQHSP 416_ QQIAY 421_ SPFNL 426_ PHYSP 431_ SYPPI 436_ TRSQY 441_ DYTDH 446_ QNSSS 451_ YYSHA 456_ AGQGT 461_ GLYST 466_ FTYMN 471_ PAQRP 476_ MYTPI 481_ ADTSG 486_ VPSIP 491_ QTHSP 496_ QHWEQ 501_PVYTQ

Protein annotations

Protein functions:

1: Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity)