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Protein

S-arrestin

Gene

SAG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).By similarity1 Publication

GO - Molecular functioni

  • opsin binding Source: Ensembl
  • phosphoprotein binding Source: Ensembl
  • protein phosphatase inhibitor activity Source: ProtInc

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
SignaLinkiP10523

Names & Taxonomyi

Protein namesi
Recommended name:
S-arrestin
Alternative name(s):
48 kDa protein
Retinal S-antigen1 Publication
Short name:
S-AG
Rod photoreceptor arrestin
Gene namesi
Name:SAG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000130561.16
HGNCiHGNC:10521 SAG
MIMi181031 gene
neXtProtiNX_P10523

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, Oguchi type 1 (CSNBO1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation.
See also OMIM:258100
Retinitis pigmentosa 47 (RP47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613758

Keywords - Diseasei

Congenital stationary night blindness, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6295
GeneReviewsiSAG
MalaCardsiSAG
MIMi258100 phenotype
613758 phenotype
OpenTargetsiENSG00000130561
Orphaneti215 Congenital stationary night blindness
75382 Oguchi disease
791 Retinitis pigmentosa
PharmGKBiPA34929

Polymorphism and mutation databases

BioMutaiSAG
DMDMi109940055

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002051861 – 405S-arrestinAdd BLAST405

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei234PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP10523
PaxDbiP10523
PeptideAtlasiP10523
PRIDEiP10523
ProteomicsDBi52611

PTM databases

iPTMnetiP10523
PhosphoSitePlusiP10523

Expressioni

Tissue specificityi

Detected in retina, in the proximal portion of the outer segment of rod photoreceptor cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000130561 Expressed in 65 organ(s), highest expression level in sperm
CleanExiHS_SAG
ExpressionAtlasiP10523 baseline and differential
GenevisibleiP10523 HS

Organism-specific databases

HPAiHPA004946

Interactioni

Subunit structurei

Monomer. Homodimer. Homotetramer (PubMed:21288033). Interacts with RHO (via the phosphorylated C-terminus) (PubMed:26200343, PubMed:28753425).3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112202, 4 interactors
IntActiP10523, 3 interactors
STRINGi9606.ENSP00000386444

Structurei

3D structure databases

ProteinModelPortaliP10523
SMRiP10523
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The C-terminus interferes with binding to non-phosphorylated RHO. Interaction with phosphorylated RHO triggers displacement of the C-terminus and leads to a conformation change that mediates high-affinity RHO binding.By similarity

Sequence similaritiesi

Belongs to the arrestin family.Curated

Phylogenomic databases

eggNOGiKOG3865 Eukaryota
ENOG410XR0F LUCA
GeneTreeiENSGT00390000013152
HOGENOMiHOG000231319
HOVERGENiHBG002399
InParanoidiP10523
KOiK19627
OMAiKLGANTY
OrthoDBiEOG091G05M2
PhylomeDBiP10523
TreeFamiTF314260

Family and domain databases

Gene3Di2.60.40.640, 1 hit
2.60.40.840, 1 hit
InterProiView protein in InterPro
IPR000698 Arrestin
IPR011021 Arrestin-like_N
IPR014752 Arrestin_C
IPR011022 Arrestin_C-like
IPR017864 Arrestin_CS
IPR014753 Arrestin_N
IPR014756 Ig_E-set
PANTHERiPTHR11792 PTHR11792, 1 hit
PfamiView protein in Pfam
PF02752 Arrestin_C, 1 hit
PF00339 Arrestin_N, 1 hit
PRINTSiPR00309 ARRESTIN
SMARTiView protein in SMART
SM01017 Arrestin_C, 1 hit
SUPFAMiSSF81296 SSF81296, 2 hits
PROSITEiView protein in PROSITE
PS00295 ARRESTINS, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P10523-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASGKTSKS EPNHVIFKKI SRDKSVTIYL GNRDYIDHVS QVQPVDGVVL
60 70 80 90 100
VDPDLVKGKK VYVTLTCAFR YGQEDIDVIG LTFRRDLYFS RVQVYPPVGA
110 120 130 140 150
ASTPTKLQES LLKKLGSNTY PFLLTFPDYL PCSVMLQPAP QDSGKSCGVD
160 170 180 190 200
FEVKAFATDS TDAEEDKIPK KSSVRLLIRK VQHAPLEMGP QPRAEAAWQF
210 220 230 240 250
FMSDKPLHLA VSLNKEIYFH GEPIPVTVTV TNNTEKTVKK IKAFVEQVAN
260 270 280 290 300
VVLYSSDYYV KPVAMEEAQE KVPPNSTLTK TLTLLPLLAN NRERRGIALD
310 320 330 340 350
GKIKHEDTNL ASSTIIKEGI DRTVLGILVS YQIKVKLTVS GFLGELTSSE
360 370 380 390 400
VATEVPFRLM HPQPEDPAKE SYQDANLVFE EFARHNLKDA GEAEEGKRDK

NDVDE
Length:405
Mass (Da):45,120
Last modified:June 27, 2006 - v3
Checksum:iCBBF65845A5F891E
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ESX4E7ESX4_HUMAN
S-arrestin
SAG
169Annotation score:
C9JSX4C9JSX4_HUMAN
S-arrestin
SAG
130Annotation score:
F8WCN5F8WCN5_HUMAN
S-arrestin
SAG
35Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti176L → Y in CAA30984 (PubMed:3164688).Curated1
Sequence conflicti180K → S in CAA30984 (PubMed:3164688).Curated1
Sequence conflicti197A → T in CAA30984 (PubMed:3164688).Curated1
Sequence conflicti215K → R in CAA30984 (PubMed:3164688).Curated1
Sequence conflicti244F → C in CAA30984 (PubMed:3164688).Curated1
Sequence conflicti372Y → I in CAA30984 (PubMed:3164688).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00826376I → V2 PublicationsCorresponds to variant dbSNP:rs7565275EnsemblClinVar.1
Natural variantiVAR_00826484R → C1 PublicationCorresponds to variant dbSNP:rs115857633EnsemblClinVar.1
Natural variantiVAR_008265125T → M1 PublicationCorresponds to variant dbSNP:rs137886124Ensembl.1
Natural variantiVAR_008266364P → L1 PublicationCorresponds to variant dbSNP:rs112613526Ensembl.1
Natural variantiVAR_008267378V → I1 PublicationCorresponds to variant dbSNP:rs200602069EnsemblClinVar.1
Natural variantiVAR_008268384R → C1 PublicationCorresponds to variant dbSNP:rs1427707173Ensembl.1
Natural variantiVAR_048333403V → A2 PublicationsCorresponds to variant dbSNP:rs1046976EnsemblClinVar.1
Natural variantiVAR_033524403V → I. Corresponds to variant dbSNP:rs1046974EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12453 mRNA Translation: CAA30984.1
U70976
, U70962, U70963, U70964, U70965, U70966, U70967, U70968, U70969, U70970, U70971, U70972, U70973, U70974, U70975 Genomic DNA Translation: AAC50992.1
AC013726 Genomic DNA Translation: AAY14861.1
DQ980620 mRNA Translation: ABJ97141.1
CCDSiCCDS46545.1
PIRiA30357
RefSeqiNP_000532.2, NM_000541.4
UniGeneiHs.32721

Genome annotation databases

EnsembliENST00000409110; ENSP00000386444; ENSG00000130561
ENST00000631149; ENSP00000486571; ENSG00000281857
GeneIDi6295
KEGGihsa:6295
UCSCiuc002vuh.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the SAG gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12453 mRNA Translation: CAA30984.1
U70976
, U70962, U70963, U70964, U70965, U70966, U70967, U70968, U70969, U70970, U70971, U70972, U70973, U70974, U70975 Genomic DNA Translation: AAC50992.1
AC013726 Genomic DNA Translation: AAY14861.1
DQ980620 mRNA Translation: ABJ97141.1
CCDSiCCDS46545.1
PIRiA30357
RefSeqiNP_000532.2, NM_000541.4
UniGeneiHs.32721

3D structure databases

ProteinModelPortaliP10523
SMRiP10523
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112202, 4 interactors
IntActiP10523, 3 interactors
STRINGi9606.ENSP00000386444

PTM databases

iPTMnetiP10523
PhosphoSitePlusiP10523

Polymorphism and mutation databases

BioMutaiSAG
DMDMi109940055

Proteomic databases

EPDiP10523
PaxDbiP10523
PeptideAtlasiP10523
PRIDEiP10523
ProteomicsDBi52611

Protocols and materials databases

DNASUi6295
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409110; ENSP00000386444; ENSG00000130561
ENST00000631149; ENSP00000486571; ENSG00000281857
GeneIDi6295
KEGGihsa:6295
UCSCiuc002vuh.3 human

Organism-specific databases

CTDi6295
DisGeNETi6295
EuPathDBiHostDB:ENSG00000130561.16
GeneCardsiSAG
GeneReviewsiSAG
H-InvDBiHIX0024008
HGNCiHGNC:10521 SAG
HPAiHPA004946
MalaCardsiSAG
MIMi181031 gene
258100 phenotype
613758 phenotype
neXtProtiNX_P10523
OpenTargetsiENSG00000130561
Orphaneti215 Congenital stationary night blindness
75382 Oguchi disease
791 Retinitis pigmentosa
PharmGKBiPA34929
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3865 Eukaryota
ENOG410XR0F LUCA
GeneTreeiENSGT00390000013152
HOGENOMiHOG000231319
HOVERGENiHBG002399
InParanoidiP10523
KOiK19627
OMAiKLGANTY
OrthoDBiEOG091G05M2
PhylomeDBiP10523
TreeFamiTF314260

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
SignaLinkiP10523

Miscellaneous databases

ChiTaRSiSAG human
GeneWikiiSAG_(gene)
GenomeRNAii6295
PROiPR:P10523
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130561 Expressed in 65 organ(s), highest expression level in sperm
CleanExiHS_SAG
ExpressionAtlasiP10523 baseline and differential
GenevisibleiP10523 HS

Family and domain databases

Gene3Di2.60.40.640, 1 hit
2.60.40.840, 1 hit
InterProiView protein in InterPro
IPR000698 Arrestin
IPR011021 Arrestin-like_N
IPR014752 Arrestin_C
IPR011022 Arrestin_C-like
IPR017864 Arrestin_CS
IPR014753 Arrestin_N
IPR014756 Ig_E-set
PANTHERiPTHR11792 PTHR11792, 1 hit
PfamiView protein in Pfam
PF02752 Arrestin_C, 1 hit
PF00339 Arrestin_N, 1 hit
PRINTSiPR00309 ARRESTIN
SMARTiView protein in SMART
SM01017 Arrestin_C, 1 hit
SUPFAMiSSF81296 SSF81296, 2 hits
PROSITEiView protein in PROSITE
PS00295 ARRESTINS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiARRS_HUMAN
AccessioniPrimary (citable) accession number: P10523
Secondary accession number(s): A0FDN6, Q53SV3, Q99858
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: June 27, 2006
Last modified: November 7, 2018
This is version 168 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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