SAG S-antigen visual arrestin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAGprovided by HGNC
Official Full Name: S-antigen visual arrestinprovided by HGNC
Primary source: HGNC:HGNC:10521
See related: Ensembl:ENSG00000130561 MIM:181031; AllianceGenome:HGNC:10521
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP47; RP96; S-AG
Summary: 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]
Annotation information: Note: SAG (Gene ID: 6295) and RNF7 (Gene ID: 9616) share the SAG symbol/alias in common. SAG is a widely used alternative name for ring finger protein 7 (RNF7), which can be confused with the official symbol for SAG (S-antigen visual arrestin, GeneID 6295). [01 Jun 2018]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (233307816..233347055)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (233795900..233835144)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (234216462..234255701)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Title: Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Title: Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Title: Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP.
Title: Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Arrestin-1 was found to be expressed in RCC (58.7% of cases) and renal oncocytoma (90% of cases) cells, while being absent in healthy kidney. The expression of arrestin-1 in RCC metastases was more prominent than in primary tumours. Hypomethylation of the SAG gene promoter is unlikely to be the mechanism for the aberrant expression of arrestin-1.
Title: Autoantibody against arrestin-1 as a potential biomarker of renal cell carcinoma.
This is the first dominant-acting mutation identified in SAG, a founder mutation possibly originating in Mexico several centuries ago. The phenotype is clearly adRP and is distinct from the previously reported phenotypes of recessive null mutations, that is, Oguchi disease and recessive RP.
Title: A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene.
Title: Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Based on their observed affinity for arrestin-1, P-opsin and inactive P-Rh very likely affect the physiological monomer-dimer-tetramer equilibrium of arrestin-1, and should therefore be taken into account when modeling photoreceptor function.
Title: Involvement of distinct arrestin-1 elements in binding to different functional forms of rhodopsin.
Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in a Chinese family.
Title: A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease.
Title: [Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag].

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oguchi disease-1 MedGen: C4551824 OMIM: 258100 GeneReviews: Not available	Compare labs
Retinitis pigmentosa 47 MedGen: C3151061 OMIM: 613758 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs
Retinitis pigmentosa 96 MedGen: C5774303 OMIM: 620228 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S1361 (e-PCR)
- UniSTS:149557

SHGC-145552 (e-PCR)
- UniSTS:174645

NoName (e-PCR)
- UniSTS:495193

GDB:186559 (e-PCR)
- UniSTS:155495

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

L17877 (e-PCR)
- UniSTS:61334

GDB:681367 (e-PCR)
- UniSTS:158619

RH71255 (e-PCR)
- UniSTS:27309

RH12582 (e-PCR)
- UniSTS:18864

RH18086 (e-PCR)
- UniSTS:82358

NoName (e-PCR)
- UniSTS:489665

NoName (e-PCR)
- UniSTS:482040

KS608 (e-PCR)
- UniSTS:253179

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables opsin binding	IEA Inferred from Electronic Annotation more info
enables phosphoprotein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled opsin signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
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
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

General protein information

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Preferred Names: S-arrestin

Names: 48 kDa protein; S-antigen; retina and pineal gland (arrestin); arrestin 1; retinal S-antigen (48 KDa protein); rod arrestin; rod photoreceptor arrestin

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.

Genomic

NG_009116.1 RefSeqGene

Range

5154..44393

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000541.5 → NP_000532.2 S-arrestin

Status: REVIEWED

Source sequence(s)

AC013726, BQ636894, BQ639030, BU734369, DQ980620

Consensus CDS

CCDS46545.1

UniProtKB/Swiss-Prot

A0FDN6, P10523, Q53SV3, Q99858

Related

ENSP00000386444.1, ENST00000409110.6

Conserved Domains (2) summary

smart01017
Location:203 → 364

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

pfam00339
Location:26 → 184

Arrestin_N; Arrestin (or S-antigen), N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

233307816..233347055

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004641.2 → XP_016860130.1 S-arrestin isoform X1

Conserved Domains (2) summary

smart01017
Location:203 → 364

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

pfam00339
Location:26 → 184

Arrestin_N; Arrestin (or S-antigen), N-terminal domain
XM_017004642.2 → XP_016860131.1 S-arrestin isoform X2
XM_017004643.2 → XP_016860132.1 S-arrestin isoform X5

Conserved Domains (2) summary

smart01017
Location:203 → 270

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

pfam00339
Location:26 → 184

Arrestin_N; Arrestin (or S-antigen), N-terminal domain
XM_011511593.4 → XP_011509895.1 S-arrestin isoform X3

Conserved Domains (2) summary

smart01017
Location:103 → 264

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

cl22903
Location:23 → 84

Arrestin_N; Arrestin (or S-antigen), N-terminal domain
XM_011511596.2 → XP_011509898.1 S-arrestin isoform X6

UniProtKB/TrEMBL

B7Z7L5

Conserved Domains (2) summary

smart01017
Location:69 → 230

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

cl22903
Location:9 → 50

Arrestin_N; Arrestin (or S-antigen), N-terminal domain
XM_011511594.1 → XP_011509896.1 S-arrestin isoform X4

UniProtKB/TrEMBL

B7Z7L5

Conserved Domains (2) summary

smart01017
Location:79 → 240

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

cl22903
Location:2 → 60

Arrestin_N; Arrestin (or S-antigen), N-terminal domain