Homo sapiens Gene: SAG
Summary
InnateDB Gene IDBG-83475.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SAG
Gene Name S-antigen; retina and pineal gland (arrestin)
Synonyms RP47; S-AG;
Species Homo sapiens
Ensembl Gene ENSG00000130561
Encoded Proteins
S-antigen; retina and pineal gland (arrestin)
S-antigen; retina and pineal gland (arrestin)
S-antigen; retina and pineal gland (arrestin)
S-antigen; retina and pineal gland (arrestin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:233307816-233347055
Strand Forward strand
Band q37.1
Transcripts
ENST00000409110 ENSP00000386444
ENST00000447536 ENSP00000408937
ENST00000415974 ENSP00000409475
ENST00000453143 ENSP00000404733
ENST00000412969
ENST00000476500
ENST00000462487
ENST00000471884
ENST00000479450
ENST00000474206
ENST00000461532
ENST00000469222
ENST00000483231
ENST00000473771
ENST00000474220
ENST00000492629
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
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Activation of the phototransduction cascade pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Visual signal transduction: Rods
Cross-References
SwissProt P10523
TrEMBL E7ESX4
UniProt Splice Variant
Entrez Gene 6295
UniGene Hs.32721
RefSeq NM_000541 XM_005246099
HUGO HGNC:10521
OMIM 181031
CCDS CCDS46545
HPRD 01625
IMGT
EMBL AC013726 DQ980620 U70962 U70963 U70964 U70965 U70966 U70967 U70968 U70969 U70970 U70971 U70972 U70973 U70974 U70975 U70976 X12453
GenPept AAC50992 AAY14861 ABJ97141 CAA30984
RNA Seq Atlas 102724564 6295