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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
  • S-Antigen Retina And Pineal Gland (Arrestin) 5
  • Retinal S-Antigen (48 KDa Protein) 3
  • Retinal S-Antigen 4
  • RP47 3

External Ids for SAG Gene

Previous GeneCards Identifiers for SAG Gene

  • GC02P232224
  • GC02P232898
  • GC02P234232
  • GC02P234503
  • GC02P233998
  • GC02P233881
  • GC02P226017
  • GC02P234234
  • GC02P234240
  • GC02P234247
  • GC02P234260

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 Oguchi Disease-1 and Retinitis Pigmentosa 47. Among its related pathways are Phototransduction and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include phosphoprotein binding 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

Regulatory Elements for SAG Gene

Enhancers for SAG Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SAG on UCSC Golden Path with GeneCards custom track

Genomic Location for SAG Gene

Chromosome:
2
Start:
233,304,300 bp from pter
End:
233,347,055 bp from pter
Size:
42,756 bases
Orientation:
Plus strand

Genomic View for SAG Gene

Genes around SAG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

No data available for DME Specific Peptides for SAG Gene

Domains & Families for SAG Gene

Protein Domains for SAG Gene

Suggested Antigen Peptide Sequences for SAG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10523

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for SAG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SAG Gene

MGI Knock Outs for SAG:
  • Sag tm1a(EUCOMM)Wtsi
  • Sag tm1Jnc

Animal Model Products

miRNA for SAG Gene

miRTarBase miRNAs that target SAG

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
nucleus 3
plasma membrane 3
cytoskeleton 2
endosome 2
extracellular 2
golgi apparatus 2
lysosome 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SAG Gene

Pathways & Interactions for SAG Gene

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

Pathways by source for SAG Gene

Gene Ontology (GO) - Biological Process for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS 2550422
genes like me logo Genes that share ontologies with SAG: view

No data available for SIGNOR curated interactions for SAG Gene

Drugs & Compounds for SAG Gene

(22) Drugs for SAG Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
B27PD Pharma 0

(21) Additional Compounds for SAG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 differential expression in normal tissues according to GTEx for SAG Gene

This gene is overexpressed in Testis (x17.2), Brain - Nucleus accumbens (basal ganglia) (x15.1), Brain - Caudate (basal ganglia) (x7.5), and Brain - Putamen (basal ganglia) (x6.3).

Protein differential expression in normal tissues from HIPED for SAG Gene

This gene is overexpressed in Retina (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SAG: view

Primer Products

No data available for Protein tissue co-expression partners for SAG Gene

Orthologs for SAG Gene

This gene was present in the common ancestor of animals.

Orthologs for SAG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SAG 35
  • 86.07 (n)
  • 87.7 (a)
SAG 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAG 35
  • 87.76 (n)
  • 89.83 (a)
SAG 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sag 35
  • 86.18 (n)
  • 88.94 (a)
Sag 16
Sag 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SAG 35
  • 99.26 (n)
  • 99.01 (a)
SAG 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sag 35
  • 86.68 (n)
  • 90.2 (a)
oppossum
(Monodelphis domestica)
Mammalia SAG 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAG 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAG 35
  • 70.93 (n)
  • 72.38 (a)
SAG 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAG 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75721 35
sag 35
  • 70.22 (n)
  • 71.95 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398109 35
zebrafish
(Danio rerio)
Actinopterygii saga 35
  • 63.4 (n)
  • 58.89 (a)
saga 36
  • 56 (a)
OneToMany
sagb 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Arr1 37
  • 42 (a)
Arr2 37
  • 40 (a)
Arr1 36
  • 42 (a)
ManyToMany
Arr2 36
  • 40 (a)
ManyToMany
CG32683 36
  • 15 (a)
ManyToMany
krz 36
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea arr-1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10346 36
  • 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

(6) 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
rs7565275 - 233,320,674(+) AGGAC(A/G)TTGAC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs115857633 - 233,320,698(+) CCTTC(C/T)GCAGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs137886124 - 233,320,822(+) CCTGA(C/T)GGTGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs112613526 - 233,342,315(+) TCAGC(C/T)TGAGG nc-transcript-variant, reference, missense
rs200602069 - 233,346,826(+) ATTTA(A/G)TTTTT nc-transcript-variant, reference, synonymous-codon, missense

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

Variation tolerance for SAG Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 74.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAG Gene

Human Gene Mutation Database (HGMD)
SAG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAG Gene

Disorders for SAG Gene

MalaCards: The human disease database

(35) MalaCards diseases for SAG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oguchi disease-1
  • oguchi disease
retinitis pigmentosa 47
  • rp47
hereditary night blindness
  • congenital night blindness
sag-related retinitis pigmentosa
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search SAG in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SAG

Genetic Association Database (GAD)
SAG
Human Genome Epidemiology (HuGE) Navigator
SAG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAG
genes like me logo Genes that share disorders with SAG: view

No data available for Genatlas for SAG Gene

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 67
  2. In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases. (PMID: 18175313) Mokarzel-FalcA^n L. … Montero-Cabrera L.A. (Proteins 2008) 3 23
  3. Structure and function of the visual arrestin oligomer. (PMID: 17332750) Hanson S.M. … Gurevich V.V. (EMBO J. 2007) 3 23
  4. 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
  5. Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins. (PMID: 10952973) Lee K.B. … Hosey M.M. (J. Biol. Chem. 2000) 3 23

Products for SAG Gene

Sources for SAG Gene

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