InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SAG

Summary

InnateDB Protein

IDBP-292885.5

Last Modified

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

Gene Symbol

SAG

Protein Name

S-antigen; retina and pineal gland (arrestin)

Synonyms

RP47; S-AG;

Species

Homo sapiens

Ensembl Protein

ENSP00000386444

InnateDB Gene

IDBG-83475 (SAG)

Protein Structure

UniProt Annotation

Function

Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated- phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase.

Subcellular Localization

Disease Associations

Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269PubMed:7670478}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 47 (RP47) [MIM:613758]: 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:9565049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina and pineal gland.

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 1 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	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002046	opsin binding
GO:0004864	protein phosphatase inhibitor activity
GO:0051219	phosphoprotein binding

Biological Process

GO:0007165	signal transduction
GO:0007166	cell surface receptor signaling pathway
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0043086	negative regulation of catalytic activity