InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZNF513

Summary

InnateDB Protein

IDBP-39024.6

Last Modified

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

Gene Symbol

ZNF513

Protein Name

zinc finger protein 513

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000318373

InnateDB Gene

IDBG-39020 (ZNF513)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator that plays a role in retinal development and maintenance. {ECO:0000269PubMed:20797688}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:20797688}.

Disease Associations

Retinitis pigmentosa 58 (RP58) [MIM:613617]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:20797688}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer. {ECO:0000269PubMed:20797688}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007601	visual perception
GO:0050896	response to stimulus
GO:0060041	retina development in camera-type eye