| Gene Symbol |
SIX5
|
| Entrez Gene |
147912
|
| Alt Symbol |
BOR2, DMAHP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SIX homeobox 5
|
| Other Description |
DM locus-associated homeodomain protein|dystrophia myotonica-associated homeodomain protein|homeobox protein SIX5|sine oculis homeobox homolog 5
|
| Swissprots |
Q8N196
|
| Accessions |
EAW57379 Q8N196 AK074826 AL540911 BC033204 AAH33204 BC084563 BC156208 AAI56209 BC156983 AAI56984 BU859227 NM_175875 NP_787071
|
| 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 (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12500905}.
|
| 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. {ECO:0000269|PubMed:9949207}.
|