Transcription Factor
| Accessions: | UP00625D (UniPROBE 20160601) |
| Names: | Homeodomain protein RINX, KTCN, PPCD, PPD, Retinal inner nuclear layer homeobox protein, Transcription factor VSX1, visual system homeobox 1, VSX1_R166Q |
| 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: | visual system homeobox 1: The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Length: | 86 |
| Pfam Domains: | 15-71 Homeobox domain |
| Sequence: (in bold interface residues) | 1 NDLKASPTLGKRKKRQHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQV 60 61 WFQNRRAKWRKREKRWGGSSVMAEYG |
| Interface Residues: | 14, 15, 16, 17, 18, 56, 57, 59, 60, 63, 64, 67, 68, 71, 72 |
| 3D-footprint Homologues: | 4j19_B, 5zfz_A, 1ig7_A, 1puf_A, 6a8r_A, 3cmy_A, 1fjl_B, 3d1n_M, 1zq3_P, 1jgg_B, 2lkx_A, 1nk2_P, 2ld5_A, 7q3o_C, 6es3_K, 1b72_A, 4cyc_A, 6m3d_C, 5flv_I, 5zjt_E, 3a01_E, 2h1k_B, 7psx_B, 5hod_A, 3lnq_A, 2hdd_A, 1au7_A, 5jlw_D, 3rkq_B, 2r5y_A, 4xrs_G, 2hos_A, 2xsd_C, 1e3o_C, 1le8_A, 7xrc_C, 3l1p_A, 1o4x_A, 8g87_X, 1du0_A, 4qtr_D, 1puf_B |
| Binding Motifs: | UP00625D_1 aAkrtsrCTAATTAGcgrthgw |
| Binding Sites: | GGTAATTA ACCAATTA ACTAATTA AGTAATTA ATAATTAG ATAATTGG ATTAATTA CCAATTAA CCAATTAG CCTAATTA CTAATTAA CTAATTAC CTAATTAG CTTAATTA GATAATTA GCTAATTA GTAATTAC GTTAATTA TAATTAGA TTAATTAA |
| 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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