SAG (S-antigen visual arrestin)

2007-02-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
RP47,S-AG
FUSION GENES

Other Information

Locus ID:

NCBI: 6295
MIM: 181031
HGNC: 10521
Ensembl: ENSG00000130561

Variants:

dbSNP: 6295
ClinVar: 6295
TCGA: ENSG00000130561
COSMIC: SAG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130561ENST00000409110P10523
ENSG00000130561ENST00000415974C9JSX4
ENSG00000130561ENST00000447536E7ESX4
ENSG00000130561ENST00000453143F8WCN5

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173327502007Structure and function of the visual arrestin oligomer.66
232775862013Involvement of distinct arrestin-1 elements in binding to different functional forms of rhodopsin.57
152326202004Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.31
212880332011Robust self-association is a common feature of mammalian visual arrestin-1.27
184136622008Arrestin binds to different phosphorylated regions of the thyrotropin-releasing hormone receptor with distinct functional consequences.15
157137992005Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.13
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
152341472004Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.8
285490942017A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.6
181753132008In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.5

Citation

Dessen P

SAG (S-antigen visual arrestin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45633/sag