• Gene id: 6295

Gene Summary

• Gene Symbol: SAG   Gene   UCSC   Ensembl
• Aliases: RP47, S-AG
• Gene name: S-antigen visual arrestin
• Alternate names: S-arrestin, 48 kDa protein, S-antigen; retina and pineal gland (arrestin), arrestin 1, retinal S-antigen (48 KDa protein), rod arrestin, rod photoreceptor arrestin,
• Gene location: 2q37.1 (233307815: 233347065)     Exons: 21     NC_000002.12
• Gene summary(Entrez): 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 si
• OMIM: 181031

Protein Summary

• Protein general information: P10523  
  • Name: S arrestin (48 kDa protein) (Retinal S antigen) (S AG) (Rod photoreceptor arrestin)
  • Length: 405  
  • Mass: 45120
  • Tissue specificity: Detected in retina, in the proximal portion of the outer segment of rod photoreceptor cells (at protein level). {ECO
• Sequence:

  MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKVYVTLTCAFRYGQED
  IDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVD
  FEVKAFATDSTDAEEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGEPIP
  VTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKTLTLLPLLANNRERRGIALD
  GKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDA
  NLVFEEFARHNLKDAGEAEEGKRDKNDVDE

• Structural information:
  • Interpro: IPR000698  IPR011021  IPR014752  IPR011022  IPR017864   IPR014753  IPR014756  
  • Prosite: PS00295
  • STRING: ENSP00000386444
• Other Databases: GeneCards:  SAG  Malacards:  SAG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0002031	G protein-coupled receptor internalization	IBA	biological process
GO:0001917	photoreceptor inner segment	IBA	cellular component
GO:0001750	photoreceptor outer segment	IBA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004864	protein phosphatase inhibitor activity	TAS	molecular function
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002046	opsin binding	IEA	molecular function
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0051219	phosphoprotein binding	IEA	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Night blindness	PMID:7670478
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)