Full name: sine oculis-related homeobox 1

Gene type: protein coding

RefSeq status: VALIDATED

Summary: Enables DNA-binding transcription factor activity; chromatin binding activity; and sequence-specific DNA binding activity. Involved in several processes, including animal organ development; myotome development; and positive regulation of morphogenesis of an epithelium. Acts upstream of or within several processes, including animal organ development; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; limb; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Orthologous to human SIX1 (SIX homeobox 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in limb E14.5 (RPKM 14.6), CNS E11.5 (RPKM 6.0) and 7 other tissues

Gene size: 4886bp

Exon count: 2