SAG (gene)

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SAG
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSAG, RP47, S-AG, S-antigen; retina and pineal gland (arrestin), S-antigen visual arrestin
External IDsOMIM: 181031 MGI: 98227 HomoloGene: 455 GeneCards: SAG
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000541

NM_009118

RefSeq (protein)

NP_000532

NP_033144

Location (UCSC)Chr 2: 233.31 – 233.35 MbChr 1: 87.73 – 87.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

S-arrestin is a protein that in humans is encoded by the SAG gene.[5][6]

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 protein in photoreceptor cells 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.[6]

References

  1. ^ a b c ENSG00000130561 GRCh38: Ensembl release 89: ENSG00000281857, ENSG00000130561 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056055 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T (Jan 1991). "Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland". J Biol Chem. 265 (34): 20757–62. doi:10.1016/S0021-9258(17)45280-X. PMID 2249983.
  6. ^ a b "Entrez Gene: SAG S-antigen; retina and pineal gland (arrestin)".

Further reading