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Aliases for SAG Gene

Aliases for SAG Gene

  • S-Antigen; Retina And Pineal Gland (Arrestin) 2 3
  • Rod Photoreceptor Arrestin 3 4
  • 48 KDa Protein 3 4
  • Arrestin 1 2 3
  • S-AG 3 4
  • Retinal S-Antigen (48 KDa Protein) 3
  • Retina And Pineal Gland (Arrestin) 6
  • Retinal S-Antigen 4
  • S-Arrestin 3
  • RP47 3

External Ids for SAG Gene

Summaries for SAG Gene

Entrez Gene Summary for 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 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]

GeneCards Summary for SAG Gene

SAG (S-Antigen; Retina And Pineal Gland (Arrestin)) is a Protein Coding gene. Diseases associated with SAG include retinitis pigmentosa 47 and melanoma-associated retinopathy. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include protein phosphatase inhibitor activity and opsin binding. An important paralog of this gene is ARRB2.

UniProtKB/Swiss-Prot for SAG Gene

  • Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase

Gene Wiki entry for SAG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAG Gene

Genomics for SAG Gene

Genomic Location for SAG Gene

Start:
233,307,663 bp from pter
End:
233,347,055 bp from pter
Size:
39,393 bases
Orientation:
Plus strand

Genomic View for SAG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAG Gene

Regulatory Elements for SAG Gene

Proteins for SAG Gene

  • Protein details for SAG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10523-ARRS_HUMAN
    Recommended name:
    S-arrestin
    Protein Accession:
    P10523
    Secondary Accessions:
    • A0FDN6
    • Q53SV3
    • Q99858

    Protein attributes for SAG Gene

    Size:
    405 amino acids
    Molecular mass:
    45120 Da
    Quaternary structure:
    • Monomer. Homodimer. Homotetramer.
    Miscellaneous:
    • Arrestin binds calcium

neXtProt entry for SAG Gene

Proteomics data for SAG Gene at MOPED

Post-translational modifications for SAG Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAG Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SAG Gene

Domains for SAG Gene

Protein Domains for SAG Gene

UniProtKB/Swiss-Prot:

ARRS_HUMAN
Family:
  • Belongs to the arrestin family.:
    • P10523
genes like me logo Genes that share domains with SAG: view

No data available for Gene Families for SAG Gene

Function for SAG Gene

Molecular function for SAG Gene

GENATLAS Biochemistry: S-antigen (48kDa),Ca2+ binding,P-rhodopsin inhibitory binding protein (arrestin),retina and pineal gland,cofactor of rhodopsin kinase
UniProtKB/Swiss-Prot Function: Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase

Gene Ontology (GO) - Molecular Function for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002046 opsin binding IEA --
GO:0004864 protein phosphatase inhibitor activity TAS 2550422
GO:0051219 phosphoprotein binding IEA --
genes like me logo Genes that share ontologies with SAG: view

Phenotypes for SAG Gene

genes like me logo Genes that share phenotypes with SAG: view

Animal Models for SAG Gene

MGI Knock Outs for SAG:

miRNA for SAG Gene

miRTarBase miRNAs that target SAG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SAG Gene

Localization for SAG Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAG Gene COMPARTMENTS Subcellular localization image for SAG gene
Compartment Confidence
cytosol 3
cytoskeleton 2
extracellular 2
golgi apparatus 2
nucleus 2
plasma membrane 2
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SAG: view

Pathways for SAG Gene

genes like me logo Genes that share pathways with SAG: view

Pathways by source for SAG Gene

1 Qiagen pathway for SAG Gene
2 Cell Signaling Technology pathways for SAG Gene

Gene Ontology (GO) - Biological Process for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction --
GO:0007166 cell surface receptor signaling pathway TAS 7670478
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with SAG: view

Compounds for SAG Gene

(1) HMDB Compounds for SAG Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(42) Novoseek inferred chemical compound relationships for SAG Gene

Compound -log(P) Hits PubMed IDs
phosphorhodopsin 90.7 7
metarhodopsin ii 83.6 22
retinoid 43.8 11
threonine 42.7 7
hydroxylamine 31.2 3
genes like me logo Genes that share compounds with SAG: view

Transcripts for SAG Gene

Unigene Clusters for SAG Gene

S-antigen; retina and pineal gland (arrestin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SAG Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
SP1: - - -
SP2: - -
SP3: -
SP4: -
SP5: - - -
SP6: - -
SP7: -
SP8: -
SP9:

Relevant External Links for SAG Gene

GeneLoc Exon Structure for
SAG
ECgene alternative splicing isoforms for
SAG

Expression for SAG Gene

mRNA expression in normal human tissues for SAG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAG Gene

This gene is overexpressed in Testis (17.2), Brain - Nucleus accumbens (basal ganglia) (15.1), Brain - Caudate (basal ganglia) (7.5), and Brain - Putamen (basal ganglia) (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SAG Gene

SOURCE GeneReport for Unigene cluster for SAG Gene Hs.32721

mRNA Expression by UniProt/SwissProt for SAG Gene

P10523-ARRS_HUMAN
Tissue specificity: Retina and pineal gland
genes like me logo Genes that share expressions with SAG: view

Orthologs for SAG Gene

This gene was present in the common ancestor of animals.

Orthologs for SAG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAG 36
  • 99.26 (n)
  • 99.01 (a)
SAG 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAG 36
  • 86.07 (n)
  • 87.7 (a)
SAG 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAG 36
  • 87.76 (n)
  • 89.83 (a)
SAG 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sag 36
  • 86.18 (n)
  • 88.94 (a)
Sag 16
Sag 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAG 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAG 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sag 36
  • 86.68 (n)
  • 90.2 (a)
chicken
(Gallus gallus)
Aves SAG 36
  • 70.93 (n)
  • 72.38 (a)
SAG 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAG 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398109 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75721 36
sag 36
  • 70.22 (n)
  • 71.95 (a)
zebrafish
(Danio rerio)
Actinopterygii saga 36
  • 63.4 (n)
  • 58.89 (a)
saga 37
  • 56 (a)
OneToMany
sagb 37
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Arr1 37
  • 42 (a)
ManyToMany
Arr2 37
  • 40 (a)
ManyToMany
CG32683 37
  • 15 (a)
ManyToMany
krz 37
  • 41 (a)
ManyToMany
Arr2 38
  • 40 (a)
Arr1 38
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea arr-1 37
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10346 37
  • 48 (a)
OneToMany
Species with no ortholog for SAG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAG Gene

ENSEMBL:
Gene Tree for SAG (if available)
TreeFam:
Gene Tree for SAG (if available)

Paralogs for SAG Gene

Paralogs for SAG Gene

Selected SIMAP similar genes for SAG Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SAG: view

Variants for SAG Gene

Sequence variations from dbSNP and Humsavar for SAG Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs692 -- 233,346,919(+) GATGT(C/T)GGCTC utr-variant-3-prime
rs745498 -- 233,329,608(-) AGACT(A/C)TGCCC intron-variant
rs879643 -- 233,314,356(+) GGCTA(C/T)CTCCC intron-variant
rs880114 -- 233,337,812(-) TATGA(A/G)AAAAA intron-variant
rs880115 -- 233,337,724(-) CAGGG(A/G)AGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAG Gene

Variant ID Type Subtype PubMed ID
esv2678091 CNV Deletion 23128226
dgv495n27 CNV Loss 19166990

Relevant External Links for SAG Gene

HapMap Linkage Disequilibrium report
SAG
Human Gene Mutation Database (HGMD)
SAG
Locus Specific Mutation Databases (LSDB)
SAG

Disorders for SAG Gene

(2) OMIM Diseases for SAG Gene (181031)

UniProtKB/Swiss-Prot

ARRS_HUMAN
  • Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269 PubMed:7670478}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 47 (RP47) [MIM:613758]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:9565049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(39) Novoseek inferred disease relationships for SAG Gene

Disease -log(P) Hits PubMed IDs
oguchis disease 92 17
uveitis 80.6 71
retinal degeneration 70.4 10
night blindness 67.7 7
pineocytoma 65.7 1

Relevant External Links for SAG

Genetic Association Database (GAD)
SAG
Human Genome Epidemiology (HuGE) Navigator
SAG
genes like me logo Genes that share disorders with SAG: view

Publications for SAG Gene

  1. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (PMID: 9501883) Sippel K.C. … Dryja T.P. (Invest. Ophthalmol. Vis. Sci. 1998) 3 4 23
  2. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. (PMID: 9020843) Yamamoto S. … Dryja T.P. (Nat. Genet. 1997) 3 4 23
  3. Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. (PMID: 15295660) Saga M. … Shimizu N. (Jpn. J. Ophthalmol. 2004) 3 23
  4. Structure and function of the visual arrestin oligomer. (PMID: 17332750) Hanson S.M. … Gurevich V.V. (EMBO J. 2007) 3 23
  5. Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate. (PMID: 15713799) Howard O.M. … Oppenheim J.J. (Blood 2005) 3 23

Products for SAG Gene

Sources for SAG Gene

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