Transcription Factor
| Accessions: | UP00609F (UniPROBE 20160601) |
| Names: | CDHS, HuP2, MGC120381, MGC120382, MGC120383, MGC120384, MGC134778, paired box protein Pax-3, PAX3_R270C, WS1, WS3 |
| 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-3: This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent |
| Length: | 275 |
| Pfam Domains: | 16-141 'Paired box' domain 202-258 Homeobox domain 225-255 Homeobox KN domain |
| Sequence: (in bold interface residues) | 1 NYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRV 60 61 SHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLL 120 121 KDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASA 180 181 PQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKL 240 241 TEARVQVWFSNCRARWRKQAGANQLMAFNHLIPGG |
| Interface Residues: | 29, 61, 62, 64, 66, 67, 83, 86, 89, 132, 133, 134, 135, 137, 138, 141, 201, 202, 203, 204, 205, 243, 244, 246, 247, 250, 251, 254, 255, 258 |
| 3D-footprint Homologues: | 1pdn_C, 1k78_A, 6pax_A, 4j19_B, 5zfz_A, 3cmy_A, 2h1k_B, 1puf_A, 1fjl_B, 6a8r_A, 3d1n_M, 1ig7_A, 1nk2_P, 1zq3_P, 1jgg_B, 6m3d_C, 3lnq_A, 2lkx_A, 7q3o_C, 2ld5_A, 6es3_K, 4xrs_G, 3l1p_A, 2hos_A, 1b72_A, 3a01_E, 5flv_I, 5zjt_E, 5hod_A, 3rkq_B, 2hdd_A, 7psx_B, 1au7_A, 5jlw_D, 4cyc_A, 2r5y_A, 1puf_B, 1le8_A, 1du0_A, 4qtr_D, 4xrm_B |
| Binding Motifs: | UP00609F_1 wwkykktAyawyayAtarrgkkc |
| Binding Sites: | ACATGTAC TACATGTA TGATATCA ACACATAC ACAGTATA ACATACAT ACCATGTA ACCGTGAC ACTACATC ATACATAT ATACATGG ATACTGTA ATATACAC ATCATCAT ATTACGTG CACATTAC CATGTATA CTATGTAC TACATACA TATGTACA |
| 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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