homeobox protein SIX5; DM locus-associated homeodomain protein; sine oculis homeobox homolog 5 (SIX5, DMAHP)

Function: - transcription factor - thought to be involved in regulation of organogenesis - may be involved in determination & maintenance of retina - 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, & in the IGFBP5 promoter (putative) - hought to be regulated by association with Dach & Eya proteins, & seems to be coactivated by EYA1, EYA2 & EYA3 - probably binds dsDNA - interacts with EYA3, & probably EYA1 & EYA2 Structure: - belongs to the SIX/sine oculis homeobox family - contains 1 homeobox DNA-binding domain Compartment: cytoplasm, nucleus Alternative splicing: named isoforms=2 Expression: - expressed in adult eyes - not expressed in fetal eyes - found in corneal epithelium & endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina & the sclera - at the begin of fourth week of development, detected in cytoplasm of somite cells - at the end of fourth week is accumulated in the nucleus of somite cells - Between the sixth & eighth week of development detected in the nucleus of limb bud cells Pathology: - defects in SIX5 are the cause of branchiootorenal syndrome type 2

Properties

SIZE: entity length = 739 aa MW = 75 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: homeodomain SITE: 201-260

Database Correlations

OMIM correlations MORBIDMAP 600963 UniProt Q8N196 Pfam PF00046 Entrez Gene 147912 Kegg hsa:147912

References

UniProt :accession Q8N196