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

Summary

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, Dec 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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M24086 (e-PCR)
- UniSTS:124943

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

px-50g7 (e-PCR)
- UniSTS:257891

M24086 (e-PCR)
- UniSTS:158822

Sag (e-PCR), detects polymorphism
- UniSTS:536465

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)

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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

87731402..87772880

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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