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

Gene ID: 6295, updated on 12-Jan-2019

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
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; 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

Genomic context

See SAG in Genome Data Viewer
Location:
2q37.1
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (233307663..233347066)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234216309..234255701)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene autophagy related 16 like 1 Neighboring gene small Cajal body-specific RNA 5 Neighboring gene small Cajal body-specific RNA 6 Neighboring gene diacylglycerol kinase delta Neighboring gene ubiquitin specific peptidase 40 Neighboring gene protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Oguchi's disease
MedGen: C4551824 OMIM: 258100 GeneReviews: Not available
not available
Retinitis pigmentosa 47 Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686D1084, DKFZp686I1383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
opsin binding IEA
Inferred from Electronic Annotation
more info
 
phosphoprotein binding IEA
Inferred from Electronic Annotation
more info
 
protein phosphatase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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
    5001..44393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000541.5NP_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
    P10523
    Related
    ENSP00000386444.1, ENST00000409110.5
    Conserved Domains (2) summary
    smart01017
    Location:203364
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    pfam00339
    Location:26184
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    233307663..233347066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    smart01017
    Location:203364
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    pfam00339
    Location:26184
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  2. XM_017004642.1XP_016860131.1  S-arrestin isoform X2

  3. XM_017004643.1XP_016860132.1  S-arrestin isoform X5

    Conserved Domains (2) summary
    smart01017
    Location:203270
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    pfam00339
    Location:26184
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  4. XM_024453036.1XP_024308804.1  S-arrestin isoform X7

    Conserved Domains (2) summary
    smart01017
    Location:69230
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:1050
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  5. XM_011511593.3XP_011509895.1  S-arrestin isoform X3

    See identical proteins and their annotated locations for XP_011509895.1

    Conserved Domains (2) summary
    smart01017
    Location:103264
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:2384
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  6. XM_011511596.1XP_011509898.1  S-arrestin isoform X6

    See identical proteins and their annotated locations for XP_011509898.1

    Conserved Domains (2) summary
    smart01017
    Location:69230
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:950
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  7. XM_011511594.1XP_011509896.1  S-arrestin isoform X4

    See identical proteins and their annotated locations for XP_011509896.1

    Conserved Domains (2) summary
    smart01017
    Location:79240
    Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    cl22903
    Location:260
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

RNA

  1. XR_001738882.1 RNA Sequence

  2. XR_922980.2 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_011332690.1 Reference GRCh38.p12 PATCHES

    Range
    253001..292393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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