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

    Gene ID: 6295, updated on 3-Nov-2024

    Summary

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    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
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    Genomic context

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    See SAG in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene autophagy related 16 like 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:234197330-234197831 Neighboring gene small Cajal body-specific RNA 5 Neighboring gene small Cajal body-specific RNA 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234227861-234228828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234228829-234229795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234234987-234235964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234237262-234238093 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:234238124-234238905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17342 Neighboring gene MPRA-validated peak4087 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17345 Neighboring gene diacylglycerol kinase delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:234307646-234308151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17347 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:234334881-234336080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234359341-234359904 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234376565-234376780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:234382503-234383102 Neighboring gene ubiquitin specific peptidase 40 Neighboring gene PPFIA1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Age-dependent increased sag amplitude in human pyramidal neurons dampens baseline cortical activity. Guet-McCreight A, et al. Cereb Cortex, 2023 Apr 4. PMID 36124673
    2. Activation of bovine rod outer segment phospholipase C by arrestin. Ghalayini AJ, et al. J Biol Chem, 1992 Sep 5. PMID 1325454
    3. Immunocytochemical demonstration of rod-opsin, S-antigen, and neuron-specific proteins in the human pineal gland. Huang SK, et al. Cell Tissue Res, 1992 Mar. PMID 1533347
    4. Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland. Yamaki K, et al. J Biol Chem, 1990 Dec 5. PMID 2249983
    5. Regulation of rhodopsin dephosphorylation by arrestin. Palczewski K, et al. J Biol Chem, 1989 Sep 25. PMID 2550422

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
    		not available
    Retinitis pigmentosa 47
    MedGen: C3151061 OMIM: 613758 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		not available
    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
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • DKFZp686D1084, DKFZp686I1383

    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

    1. NG_009116.1 RefSeqGene

      Range
      5154..44393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000541.5 → NP_000532.2  S-arrestin

      See identical proteins and their annotated locations for NP_000532.2

      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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      233307816..233347055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. XM_017004642.2 → XP_016860131.1  S-arrestin isoform X2

    3. 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

    4. XM_011511593.4 → XP_011509895.1  S-arrestin isoform X3

      See identical proteins and their annotated locations for XP_011509895.1

      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

    5. XM_011511596.2 → XP_011509898.1  S-arrestin isoform X6

      See identical proteins and their annotated locations for XP_011509898.1

      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

    6. XM_011511594.1 → XP_011509896.1  S-arrestin isoform X4

      See identical proteins and their annotated locations for XP_011509896.1

      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

    RNA

    1. XR_001738882.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332690.1 Reference GRCh38.p14 PATCHES

      Range
      253154..292393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331688.1 → XP_054187663.1  S-arrestin isoform X1

    2. XM_054331689.1 → XP_054187664.1  S-arrestin isoform X2

    3. XM_054331692.1 → XP_054187667.1  S-arrestin isoform X5

    4. XM_054331690.1 → XP_054187665.1  S-arrestin isoform X3

    5. XM_054331693.1 → XP_054187668.1  S-arrestin isoform X6

    6. XM_054331691.1 → XP_054187666.1  S-arrestin isoform X4

    RNA

    1. XR_008485728.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      233795900..233835144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343295.1 → XP_054199270.1  S-arrestin isoform X1

    2. XM_054343296.1 → XP_054199271.1  S-arrestin isoform X2

    3. XM_054343299.1 → XP_054199274.1  S-arrestin isoform X5

    4. XM_054343297.1 → XP_054199272.1  S-arrestin isoform X3

    5. XM_054343300.1 → XP_054199275.1  S-arrestin isoform X6

    6. XM_054343298.1 → XP_054199273.1  S-arrestin isoform X4

    RNA

    1. XR_008486480.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10523.3 GenPept UniProtKB/Swiss-Prot:P10523

    Gene LinkOut

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