Recombinant Human Homeobox protein SIX5 (SIX5)

Uniprot Id

Q8N196

Target Species

Human

Target Name

SIX5

Target Full Name

Homeobox protein SIX5

Target Function

Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter. Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3.

Target Involvement

Branchiootorenal syndrome 2 (BOR2)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

SIX/Sine oculis homeobox family

Target Tissue Specificity

Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera.

Target Synonyms

SIX5; DMAHP; Homeobox protein SIX5; DM locus-associated homeodomain protein; Sine oculis homeobox homolog 5

Target Background

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2.