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SAG (gene)

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SAG
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4ZWJ

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; OMA:SAG - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for SAGGenomic location for SAG
Band2q37.1Start233,307,816 bp
End233,347,055 bp
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)
Chromosome 1 (mouse)Genomic location for SAGGenomic location for SAG
Band1 D|1 44.44 cMStart87,731,402 bp
End87,772,880 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • nucleus accumbens

  • testicle

  • left testis

  • right testis

  • caudate nucleus

  • putamen

  • monocyte

  • granulocyte

  • bone marrow

  • mucosa of transverse colon
Top expressed in
  • neural layer of retina

  • retinal pigment epithelium

  • corneal stroma

  • pineal gland

  • epithelium of lens

  • iris

  • conjunctival fornix

  • embryo

  • ciliary body

  • spermatid
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6295

20215

Ensembl

ENSG00000281857
ENSG00000130561

ENSMUSG00000056055

UniProt

P10523

P20443

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
Wikidata
View/Edit HumanView/Edit Mouse

S-arrestin is a protein that in humans is encoded by the SAG gene.

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.

References

  1. ^ ENSG00000130561 GRCh38: Ensembl release 89: ENSG00000281857, ENSG00000130561Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000056055Ensembl, 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. ^ "Entrez Gene: SAG S-antigen; retina and pineal gland (arrestin)".

Further reading

Protein: cell membrane proteins (other than Cell surface receptor, enzymes, and cytoskeleton)
Arrestin
Membrane-spanning 4A
Myelin
Pulmonary surfactant
Tetraspanin
Other/ungrouped
see also other cell membrane protein disorders
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