P10523 (ARRS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
S-arrestin

Alternative name(s):
48 kDa protein
Retinal S-antigen
Short name=S-AG
Rod photoreceptor arrestin

Gene names

Name:

SAG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	405 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Tissue specificity	Retina and pineal gland.
Involvement in disease	Congenital stationary night blindness, 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.5 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.6
Miscellaneous	Arrestin binds calcium.
Sequence similarities	Belongs to the arrestin family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Coding sequence diversity	Polymorphism
Disease	Autoimmune uveitis Congenital stationary night blindness Retinitis pigmentosa
Ligand	Calcium
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	rhodopsin mediated signaling pathway Traceable author statement PubMed 2550422Ref.5. Source: ProtInc visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	photoreceptor inner segment Inferred from electronic annotation. Source: Compara photoreceptor outer segment Inferred from electronic annotation. Source: Compara
Molecular_function	protein phosphatase inhibitor activity Traceable author statement PubMed 2550422. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 405	405	S-arrestin		PRO_0000205186
Amino acid modifications
	Disulfide bond	132 ↔ 147		Probable
Natural variations
	Natural variant	76	1	I → V. Ref.5 Ref.7 Corresponds to variant rs7565275 [ dbSNP | Ensembl ].		VAR_008263
	Natural variant	84	1	R → C. Ref.7		VAR_008264
	Natural variant	125	1	T → M. Ref.7		VAR_008265
	Natural variant	364	1	P → L. Ref.7		VAR_008266
	Natural variant	378	1	V → I. Ref.7		VAR_008267
	Natural variant	384	1	R → C. Ref.7		VAR_008268
	Natural variant	403	1	V → A. Ref.1 Ref.3 Corresponds to variant rs1046976 [ dbSNP | Ensembl ].		VAR_048333
	Natural variant	403	1	V → I. Corresponds to variant rs1046974 [ dbSNP | Ensembl ].		VAR_033524
Experimental info
	Sequence conflict	176	1	L → Y in CAA30984. Ref.1
	Sequence conflict	180	1	K → S in CAA30984. Ref.1
	Sequence conflict	197	1	A → T in CAA30984. Ref.1
	Sequence conflict	215	1	K → R in CAA30984. Ref.1
	Sequence conflict	244	1	F → C in CAA30984. Ref.1
	Sequence conflict	372	1	Y → I in CAA30984. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P10523 [UniParc]. Last modified June 27, 2006. Version 3. Checksum: CBBF65845A5F891E	FASTA	405	45,120
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
[6]	"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.
[7]	"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 , 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.
IPI	IPI00021353.
PIR	A30357.
RefSeq	NP_000532.2. NM_000541.4.
UniGene	Hs.32721.
3D structure databases
ProteinModelPortal	P10523.
ModBase	Search...
Protein-protein interaction databases
IntAct	P10523. 2 interactions.
STRING	9606.ENSP00000386444.
PTM databases
PhosphoSite	P10523.
Polymorphism databases
DMDM	109940055.
Proteomic databases
PaxDb	P10523.
PRIDE	P10523.
Protocols and materials databases
DNASU	6295.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409110; ENSP00000386444; ENSG00000130561.
GeneID	6295.
KEGG	hsa:6295.
UCSC	uc002vuh.2. human.
Organism-specific databases
CTD	6295.
GeneCards	GC02P234234.
HGNC	HGNC:10521. SAG.
MIM	181031. gene. 258100. phenotype. 613758. phenotype.
neXtProt	NX_P10523.
Orphanet	75382. Oguchi disease. 791. Retinitis pigmentosa.
PharmGKB	PA34929.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG330592.
HOGENOM	HOG000231319.
HOVERGEN	HBG002399.
InParanoid	P10523.
OMA	KEIYFHG.
Enzyme and pathway databases
Pathway_Interaction_DB	rhodopsin_pathway. Visual signal transduction: Rods.
SignaLink	P10523.
Gene expression databases
ArrayExpress	P10523.
Bgee	P10523.
CleanEx	HS_SAG.
Genevestigator	P10523.
GermOnline	ENSG00000130561. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.640. 1 hit. 2.60.40.840. 1 hit.
InterPro	IPR000698. Arrestin. IPR011021. Arrestin-like_N. IPR014752. Arrestin_C. IPR011022. Arrestin_C-like. IPR017864. Arrestin_CS. IPR014753. Arrestin_N. IPR014756. Ig_E-set. [Graphical view]
PANTHER	PTHR11792. PTHR11792. 1 hit.
Pfam	PF02752. Arrestin_C. 1 hit. PF00339. Arrestin_N. 1 hit. [Graphical view]
PRINTS	PR00309. ARRESTIN.
SMART	SM01017. Arrestin_C. 1 hit. [Graphical view]
SUPFAM	SSF81296. Ig_E-set. 2 hits.
PROSITE	PS00295. ARRESTINS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6295.
NextBio	24439.
SOURCE	Search...

Entry information

Entry name

ARRS_HUMAN

Accession

Primary (citable) accession number: P10523
Secondary accession number(s): Q53SV3, Q99858

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	June 27, 2006
Last modified:	May 29, 2013
This is version 124 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.