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Sag S-antigen, retina and pineal gland (arrestin) [ Mus musculus (house mouse) ]

Gene ID: 20215, updated on 2-Nov-2024

Summary

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Official Symbol
Sagprovided by MGI
Official Full Name
S-antigen, retina and pineal gland (arrestin)provided by MGI
Primary source
MGI:MGI:98227
See related
Ensembl:ENSMUSG00000056055 AllianceGenome:MGI:98227
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Arr1; Irbp; arrestin; A930001K18Rik
Summary
Enables opsin binding activity and phosphoprotein binding activity. Predicted to be involved in G protein-coupled receptor internalization. Located in photoreceptor inner segment and photoreceptor outer segment. Is expressed in eye and retina outer nuclear layer. Human ortholog(s) of this gene implicated in Oguchi disease-1; hereditary night blindness; retinitis pigmentosa; and retinitis pigmentosa 47. Orthologous to human SAG (S-antigen visual arrestin). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 1.9), genital fat pad adult (RPKM 0.3) and 7 other tissues See more
Orthologs
human all
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Genomic context

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See Sag in Genome Data Viewer
Location:
1 D; 1 44.44 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (87731402..87772880)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (87798143..87845158)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene autophagy related 16 like 1 Neighboring gene predicted gene, 25395 Neighboring gene predicted gene, 53572 Neighboring gene small Cajal body-specific RNA 6 Neighboring gene STARR-seq mESC enhancer starr_01624 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:89724892-89725168 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:89743594-89743830 Neighboring gene STARR-positive B cell enhancer ABC_E10019 Neighboring gene STARR-positive B cell enhancer mm9_chr1:89763253-89763553 Neighboring gene predicted gene, 19582 Neighboring gene STARR-seq mESC enhancer starr_01625 Neighboring gene diacylglycerol kinase, delta Neighboring gene ubiquitin specific peptidase 40

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Progressive reduction of its expression in rods reveals two pools of arrestin-1 in the outer segment with different roles in photoresponse recovery. Cleghorn WM, et al. PLoS One, 2011. PMID 21818392, Free PMC Article
  2. Structural analysis of mouse S-antigen. Tsuda M, et al. Gene, 1988 Dec 15. PMID 2977355
  3. Development of an MRI biomarker sensitive to tetrameric visual arrestin 1 and its reduction via light-evoked translocation in vivo. Berkowitz BA, et al. FASEB J, 2015 Feb. PMID 25351983, Free PMC Article
  4. Ubiquitination by SAG regulates macrophage survival/death and immune response during infection. Chang SC, et al. Cell Death Differ, 2014 Sep. PMID 24786833, Free PMC Article
  5. Arrestin-1 expression level in rods: balancing functional performance and photoreceptor health. Song X, et al. Neuroscience, 2011 Feb 3. PMID 21075174, Free PMC Article

See all (103) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Absence of FAIM Leads to a Delay in Dark Adaptation and Hampers Arrestin-1 Translocation upon Light Reception in the Retina.
    Title: The Absence of FAIM Leads to a Delay in Dark Adaptation and Hampers Arrestin-1 Translocation upon Light Reception in the Retina.
  2. We conclude that, in addition to their well-established roles in Meta II inactivation, Grk1 and Arr1 can modulate the kinetics of Meta III decay and rod dark adaptation in vivo.
    Title: Rhodopsin kinase and arrestin binding control the decay of photoactivated rhodopsin and dark adaptation of mouse rods.
  3. The G-protein coupled receptor, DRD4, requires ARR1 and ARR4 for desensitization and internalization.
    Title: Dopamine receptor D4 internalization requires a beta-arrestin and a visual arrestin.
  4. ARR4 modulates essential functions in high acuity vision and downstream cellular signaling pathways that are not fulfilled or substituted by the coexpression of ARR1, despite its high expression levels in all mouse cones.
    Title: Visual Cone Arrestin 4 Contributes to Visual Function and Cone Health.
  5. crystal structure of a constitutively active form of human rhodopsin bound to a pre-activated form of the mouse visual arrestin, determined by serial femtosecond X-ray laser crystallography
    Title: Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.
  6. Sag is essential for embryonic vasculogenesis and tumor angiogenesis.
    Title: Endothelial deletion of Sag/Rbx2/Roc2 E3 ubiquitin ligase causes embryonic lethality and blocks tumor angiogenesis.
  7. SAG knockdown caused the accumulation of proapoptotic Bax and SARM, imbalance of Bcl-2/Bax in the mitochondria, induction of cytosolic cytochrome c and activation of caspases, all of which led to disequilibrium between life and death of macrophages.
    Title: Ubiquitination by SAG regulates macrophage survival/death and immune response during infection.
  8. tetrameric visual arrestin 1 is a biomarker for retinal function in diabetic mice, assessed by MRI
    Title: Development of an MRI biomarker sensitive to tetrameric visual arrestin 1 and its reduction via light-evoked translocation in vivo.
  9. The data suggest that monomeric arrestin-1 is cytotoxic and WT arrestin-1 protects rods by forming mixed oligomers with the mutant and/or competing with it for the binding to non-receptor partners.
    Title: Rapid degeneration of rod photoreceptors expressing self-association-deficient arrestin-1 mutant.
  10. Findings suggest a role for Bardet-Biedl syndrome 5 (BBS5) in regulating light-dependent translocation of arrestin1 (Arr1).
    Title: Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables opsin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphoprotein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables spectrin binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor inner segment ISO
Inferred from Sequence Orthology
more info
  
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
  
located_in photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
S-arrestin
Names
48 kDa protein
S-AG
arrestin 1
retinal S-antigen
rod arrestin
rod photoreceptor arrestin
visual arrestin 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_009118.2 → NP_033144.1  S-arrestin

    See identical proteins and their annotated locations for NP_033144.1

    Status: VALIDATED

    Source sequence(s)
    AC102630, M24086
    Consensus CDS
    CCDS35656.1
    UniProtKB/Swiss-Prot
    P20443, Q91W62
    UniProtKB/TrEMBL
    Q3UEW3, Q3UPX6
    Related
    ENSMUSP00000076948.6, ENSMUST00000077772.12
    Conserved Domains (2) summary
    smart01017
    Location:200 → 361
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    pfam00339
    Location:23 → 181
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    87731402..87772880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030252327.2 → XP_030108187.1  S-arrestin isoform X1

    UniProtKB/Swiss-Prot
    P20443, Q91W62
    UniProtKB/TrEMBL
    Q3UEW3, Q3UPX6
    Conserved Domains (2) summary
    smart01017
    Location:200 → 361
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    pfam00339
    Location:23 → 181
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

  2. XM_011247944.4 → XP_011246246.1  S-arrestin isoform X4

    UniProtKB/TrEMBL
    Q3UEW3
    Conserved Domains (2) summary
    smart01017
    Location:125 → 286
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:1 → 106
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

  3. XM_006529274.2 → XP_006529337.1  S-arrestin isoform X2

    UniProtKB/TrEMBL
    Q3UEW3
    Conserved Domains (2) summary
    smart01017
    Location:145 → 306
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:2 → 126
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

  4. XM_036162886.1 → XP_036018779.1  S-arrestin isoform X3

    UniProtKB/TrEMBL
    Q3UEW3
    Conserved Domains (2) summary
    smart01017
    Location:145 → 298
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:2 → 126
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

  5. XM_030252329.1 → XP_030108189.1  S-arrestin isoform X5

    UniProtKB/TrEMBL
    Q8C8Y8
    Conserved Domains (2) summary
    smart01017
    Location:145 → 298
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:2 → 126
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

  6. XM_036162893.1 → XP_036018786.1  S-arrestin isoform X6

    Conserved Domains (1) summary
    smart01017
    Location:16 → 177
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20443.1 GenPept UniProtKB/Swiss-Prot:P20443

Gene LinkOut

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