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P10523 (ARRS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
S-arrestin
Alternative name(s):
48 kDa protein
Retinal S-antigen
Short name=S-AG
Rod photoreceptor arrestin
Gene names
Name:SAG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length405 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase.

Subunit structure

Monomer. Homodimer. Homotetramer. Ref.8

Tissue specificity

Retina and pineal gland.

Involvement in disease

Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Retinitis pigmentosa 47 (RP47) [MIM:613758]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Miscellaneous

Arrestin binds calcium.

Sequence similarities

Belongs to the arrestin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 405405S-arrestin
PRO_0000205186

Amino acid modifications

Modified residue2341Phosphothreonine By similarity
Disulfide bond132 ↔ 147 Probable

Natural variations

Natural variant761I → V. Ref.6 Ref.9
Corresponds to variant rs7565275 [ dbSNP | Ensembl ].
VAR_008263
Natural variant841R → C. Ref.9
Corresponds to variant rs115857633 [ dbSNP | Ensembl ].
VAR_008264
Natural variant1251T → M. Ref.9
Corresponds to variant rs137886124 [ dbSNP | Ensembl ].
VAR_008265
Natural variant3641P → L. Ref.9
Corresponds to variant rs112613526 [ dbSNP | Ensembl ].
VAR_008266
Natural variant3781V → I. Ref.9
Corresponds to variant rs200602069 [ dbSNP | Ensembl ].
VAR_008267
Natural variant3841R → C. Ref.9
VAR_008268
Natural variant4031V → A. Ref.1 Ref.3
Corresponds to variant rs1046976 [ dbSNP | Ensembl ].
VAR_048333
Natural variant4031V → I.
Corresponds to variant rs1046974 [ dbSNP | Ensembl ].
VAR_033524

Experimental info

Sequence conflict1761L → Y in CAA30984. Ref.1
Sequence conflict1801K → S in CAA30984. Ref.1
Sequence conflict1971A → T in CAA30984. Ref.1
Sequence conflict2151K → R in CAA30984. Ref.1
Sequence conflict2441F → C in CAA30984. Ref.1
Sequence conflict3721Y → I in CAA30984. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P10523 [UniParc].

Last modified June 27, 2006. Version 3.
Checksum: CBBF65845A5F891E

FASTA40545,120
        10         20         30         40         50         60 
MAASGKTSKS EPNHVIFKKI SRDKSVTIYL GNRDYIDHVS QVQPVDGVVL VDPDLVKGKK 

        70         80         90        100        110        120 
VYVTLTCAFR YGQEDIDVIG LTFRRDLYFS RVQVYPPVGA ASTPTKLQES LLKKLGSNTY 

       130        140        150        160        170        180 
PFLLTFPDYL PCSVMLQPAP QDSGKSCGVD FEVKAFATDS TDAEEDKIPK KSSVRLLIRK 

       190        200        210        220        230        240 
VQHAPLEMGP QPRAEAAWQF FMSDKPLHLA VSLNKEIYFH GEPIPVTVTV TNNTEKTVKK 

       250        260        270        280        290        300 
IKAFVEQVAN VVLYSSDYYV KPVAMEEAQE KVPPNSTLTK TLTLLPLLAN NRERRGIALD 

       310        320        330        340        350        360 
GKIKHEDTNL ASSTIIKEGI DRTVLGILVS YQIKVKLTVS GFLGELTSSE VATEVPFRLM 

       370        380        390        400 
HPQPEDPAKE SYQDANLVFE EFARHNLKDA GEAEEGKRDK NDVDE 

« Hide

References

« Hide 'large scale' references
[1]"The sequence of human retinal S-antigen reveals similarities with alpha-transducin."
Yamaki K., Tsuda M., Shinohara T.
FEBS Lett. 234:39-43(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-403.
Tissue: Retina.
[2]Erratum
Yamaki K., Tsuda M., Shinohara T.
FEBS Lett. 236:507-507(1988)
[3]"Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness."
Yamamoto S., Sippel K.C., Berson E.L., Dryja T.P.
Nat. Genet. 15:175-178(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-403.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Mapping of transcription start sites of human retina expressed genes."
Roni V., Carpio R., Wissinger B.
BMC Genomics 8:42-42(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-133.
Tissue: Retina.
[6]"A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese."
Fuchs S., Nakazawa M., Maw M., Tamai M., Oguchi Y., Gal A.
Nat. Genet. 10:360-362(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CSNBO1, VARIANT VAL-76.
[7]"Arrestin gene mutations in autosomal recessive retinitis pigmentosa."
Nakazawa M., Wada Y., Tamai M.
Arch. Ophthalmol. 116:498-501(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP47.
[8]"Robust self-association is a common feature of mammalian visual arrestin-1."
Kim M., Hanson S.M., Vishnivetskiy S.A., Song X., Cleghorn W.M., Hubbell W.L., Gurevich V.V.
Biochemistry 50:2235-2242(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT.
[9]"Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness."
Sippel K.C., DeStefano J.D., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 39:665-670(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VAL-76; CYS-84; MET-125; LEU-364; ILE-378 AND CYS-384.
+Additional computationally mapped references.

Web resources

Mutations of the SAG gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X12453 mRNA. Translation: CAA30984.1.
U70976 expand/collapse EMBL AC list , 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.
PIRA30357.
RefSeqNP_000532.2. NM_000541.4.
XP_005246156.1. XM_005246099.1.
UniGeneHs.32721.

3D structure databases

ProteinModelPortalP10523.
SMRP10523. Positions 14-364.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112202. 3 interactions.
IntActP10523. 2 interactions.
STRING9606.ENSP00000386444.

PTM databases

PhosphoSiteP10523.

Polymorphism databases

DMDM109940055.

Proteomic databases

PaxDbP10523.
PRIDEP10523.

Protocols and materials databases

DNASU6295.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409110; ENSP00000386444; ENSG00000130561.
GeneID6295.
KEGGhsa:6295.
UCSCuc002vuh.2. human.

Organism-specific databases

CTD6295.
GeneCardsGC02P234247.
HGNCHGNC:10521. SAG.
MIM181031. gene.
258100. phenotype.
613758. phenotype.
neXtProtNX_P10523.
Orphanet75382. Oguchi disease.
791. Retinitis pigmentosa.
PharmGKBPA34929.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG330592.
HOGENOMHOG000231319.
HOVERGENHBG002399.
InParanoidP10523.
OMAKEIYFHG.
PhylomeDBP10523.
TreeFamTF314260.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
SignaLinkP10523.

Gene expression databases

ArrayExpressP10523.
BgeeP10523.
CleanExHS_SAG.
GenevestigatorP10523.

Family and domain databases

Gene3D2.60.40.640. 1 hit.
2.60.40.840. 1 hit.
InterProIPR000698. Arrestin.
IPR011021. Arrestin-like_N.
IPR014752. Arrestin_C.
IPR011022. Arrestin_C-like.
IPR017864. Arrestin_CS.
IPR014753. Arrestin_N.
IPR014756. Ig_E-set.
[Graphical view]
PANTHERPTHR11792. PTHR11792. 1 hit.
PfamPF02752. Arrestin_C. 1 hit.
PF00339. Arrestin_N. 1 hit.
[Graphical view]
PRINTSPR00309. ARRESTIN.
SMARTSM01017. Arrestin_C. 1 hit.
[Graphical view]
SUPFAMSSF81296. SSF81296. 2 hits.
PROSITEPS00295. ARRESTINS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSAG_(gene).
GenomeRNAi6295.
NextBio24439.
PROP10523.
SOURCESearch...

Entry information

Entry nameARRS_HUMAN
AccessionPrimary (citable) accession number: P10523
Secondary accession number(s): A0FDN6, Q53SV3, Q99858
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: June 27, 2006
Last modified: April 16, 2014
This is version 133 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM