Transcription Factor
| Accessions: | UP00611F (UniPROBE 20160601) |
| Names: | AN, AN2, Aniridia type II protein, D11S812E, MGC17209, MGDA, Oculorhombin, paired box protein Pax-6, PAX6_R128C, WAGR |
| Organisms: | Homo sapiens |
| Libraries: | UniPROBE 20160601 1 1 Hume MA, Barrera LA, Gisselbrecht SS, Bulyk ML. UniPROBE, update 2015: new tools and content for the online database of protein-binding microarray data on protein-DNA interactions. Nucleic Acids Res : (2015). [Pubmed] |
| Description: | paired box protein Pax-6: This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as anir |
| Length: | 282 |
| Pfam Domains: | 4-127 'Paired box' domain 212-267 Homeobox domain |
| Sequence: (in bold interface residues) | 1 MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY 60 61 YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV 120 121 SSINRVLCNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ 180 181 EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR 240 241 ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTP |
| Interface Residues: | 17, 49, 50, 52, 54, 55, 71, 74, 77, 119, 120, 121, 122, 124, 125, 128, 190, 193, 194, 197, 211, 212, 213, 214, 252, 253, 255, 256, 259, 260, 263, 264, 267, 270 |
| 3D-footprint Homologues: | 1pdn_C, 6pax_A, 1k78_A, 5zfz_A, 3d1n_M, 2h1k_B, 1puf_A, 6a8r_A, 3cmy_A, 1jgg_B, 1zq3_P, 6m3d_C, 3lnq_A, 2lkx_A, 1nk2_P, 7q3o_C, 2ld5_A, 6es3_K, 2hos_A, 4cyc_A, 5flv_I, 3l1p_A, 5zjt_E, 1au7_A, 4j19_B, 3a01_E, 1fjl_B, 5hod_A, 1b72_A, 2hdd_A, 7psx_B, 1ig7_A, 5jlw_D, 3rkq_B, 2r5y_A, 1puf_B, 4xrs_G, 2xsd_C, 1e3o_C, 7xrc_C, 1le8_A, 1o4x_A, 1le8_B, 1k61_B, 1mnm_C, 8g87_X, 4qtr_D, 1du0_A |
| Binding Motifs: | UP00611F_1 rsaakmCwGAGCTCgGrrskav |
| Binding Sites: | AACCCCCC ACCCCCCT GCACCCCC GCGGCCGA ACGGCGGA ACGTCCCG AGCCCGTC CAGGCTTC CATCGGCC CCCGAGCC CCCGTCAG CCCTTCGG CGCTCAGC CGGCACGA CGTCGTCC CTAGGCGA GCGAGGAA GGAGGCCC GGCAACCC GGGAGACA |
| Publications: | Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, Hao T, Yi S, Kellis M, Daly MJ, Vidal M, Hill DE, Bulyk ML. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science 351:1450-4 (2016). [Pubmed] |
| Related annotations: | PaperBLAST |
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