InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SIX5

Summary

InnateDB Protein

IDBP-57972.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SIX5

Protein Name

SIX homeobox 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000316842

InnateDB Gene

IDBG-57970 (SIX5)

Protein Structure

UniProt Annotation

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 Localization

Cytoplasm {ECO:0000269PubMed:12500905}. Nucleus {ECO:0000255PROSITE-ProRule:PRU00108, ECO:0000269PubMed:12500905}.

Disease Associations

Branchiootorenal syndrome 2 (BOR2) [MIM:610896]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269PubMed:17357085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:9949207}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0002088	lens development in camera-type eye
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007286	spermatid development
GO:0008285	negative regulation of cell proliferation