Transcription Factor
| Accessions: | UP00604E (UniPROBE 20160601) |
| Names: | Cardiac-specific homeobox, CHNG5, CSX, CSX1, FLJ52202, FLJ97166, FLJ97195, FLJ97197, FLJ99536, Homeobox protein CSX, Homeobox protein NK-2 homolog E, homeobox protein Nkx-2.5, NKX2-5_T178M, NKX2.5, NKX2E, NKX4-1 |
| 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: | homeobox protein Nkx-2.5: This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. |
| Length: | 86 |
| Pfam Domains: | 15-71 Homeobox domain |
| Sequence: (in bold interface residues) | 1 TEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLMSTQVKI 60 61 WFQNRRYKCKRQRQDQTLELVGLPPP |
| Interface Residues: | 12, 14, 15, 16, 17, 18, 56, 57, 59, 60, 63, 64, 67, 68, 71 |
| 3D-footprint Homologues: | 5zfz_A, 4j19_B, 5zjt_E, 2h1k_B, 1puf_A, 1fjl_B, 6a8r_A, 3cmy_A, 1ig7_A, 3d1n_M, 3l1p_A, 2lkx_A, 1nk2_P, 1zq3_P, 6m3d_C, 2ld5_A, 7q3o_C, 6es3_K, 5flv_I, 3a01_E, 7psx_B, 1au7_A, 5hod_A, 3lnq_A, 2hdd_A, 1b72_A, 5jlw_D, 3rkq_B, 2r5y_A, 4xrs_G, 2hos_A, 1jgg_B, 1e3o_C, 1le8_A, 7xrc_C, 2xsd_C, 1o4x_A, 8g87_X, 1k61_B, 4qtr_D, 1puf_B, 1du0_A, 4cyc_A |
| Binding Motifs: | UP00604E_1 tawwywATrTwwATtAwytaAA |
| Binding Sites: | ATTATAAT AAATATAT AATATATT AATTAATA ATAAAATA ATAAATAA ATAATTAC ATAATTAT ATATAAAT ATTAAATA ATTATTTA TAATTATA TATAAACA AAATTATC AATAAATA AATTATAA ACATATTA ATATAACA ATTAACAA TATAATAA |
| 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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