InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLIS3

Summary

InnateDB Protein

IDBP-45812.6

Last Modified

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

Gene Symbol

GLIS3

Protein Name

GLIS family zinc finger 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000325494

InnateDB Gene

IDBG-45810 (GLIS3)

Protein Structure

UniProt Annotation

Function

Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. {ECO:0000269PubMed:16715098, ECO:0000269PubMed:21139041}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary. {ECO:0000269PubMed:14500813}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0045944	positive regulation of transcription from RNA polymerase II promoter