 |
 | Services
| |
 |
Aliases & Descriptions for SAG
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ARRESTIN 1 | | DKFZp686D1084 2 | | DKFZp686I1383 2 | | RP47 2, 5 | | S-AG 2, 3 | | S-arrestin 2 |
| | | Descriptions |
|---|
| 48 kDa protein 3 | | Retinal S-antigen 3 | | Rod photoreceptor arrestin 2, 3 | | S-antigen; retina and pineal gland (arrestin) 2 | | arrestin 1 2 | | retinal S-antigen (48 KDa protein) 2 |
|
| | Search outside databases for aliases for SAG genePrevious GC identifers: GC02P232224 GC02P232898 GC02P234232 GC02P234503 GC02P233998 |
Summaries for SAG(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SAG: 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] UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523Function: 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 phosphodiesteraseGene Wiki entry for SAG |
Genomic Location for SAG
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SAG gene 
Entrez Gene cytogenetic band: 2q37.1 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37.1SAG Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P233881:
(about GC identifiers)
Start:
|
233,881,206 bp from pter |
End:
|
233,920,440 bp from pter |
Size:
|
39,235 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000002.10 NT_005120.15
| Proteins for SAG
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523 (See
protein sequence)Recommended Name: S-arrestin Size: 405 amino acids; 45120 Da
Miscellaneous: Arrestin binds calcium
Secondary accessions: Q53SV3 Q99858Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000532.2
ENSEMBL proteins: ENSP00000252857 ENSP00000386444 ENSP00000379782
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
Antibodies for SAG: Assays for SAG: | Protein
Domains/ Families for SAG(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P10523
ProtoNet protein and cluster: P10523 1 Blocks protein family: IPB000698 Arrestin
UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523Similarity: Belongs to the arrestin family | Gene Function for SAG
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000541
Applied Biosystems Silencer® siRNAs for SAG
Sigma-Aldrich siRNA and siRNA Panels for SAG  Sigma-Aldrich shRNA Panels and shRNA for SAG  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000541                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000541                                  untagged cDNA clone in CMV expression vector: NM_000541 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000541
UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523Function: 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 phosphodiesteraseGenatlas biochemistry entry for SAG:S-antigen (48kDa),Ca2+ binding,P-rhodopsin inhibitory binding protein (arrestin),retina and pineal gland,cofactor of rhodopsin kinase3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SAG
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for SAG (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SAG 
5/31 Interacting proteins for SAG (ENSP000002528573) via UniProtKB, MINT, and/or STRING (see all 31
)About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): About this table
|
Drugs & Compounds for SAG(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SAG 10/22 Novoseek chemical compound relationships for SAG gene (see all 22
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphorhodopsin |
90.93 |
10 |
16547131 (2), 9624137 (1), 17848565 (1), 9188704 (1) (see all 6) |
| metarhodopsin ii |
82.76 |
32 |
9047319 (5), 10969086 (3), 8446607 (2), 8639666 (2) (see all 12) |
| threonine |
38.81 |
9 |
17981995 (1), 17995450 (1), 14636063 (1), 12424254 (1) (see all 7) |
| hydroxylamine |
32.78 |
5 |
16547131 (2), 9775211 (1) |
| phytate |
25.23 |
3 |
18161994 (1), 1765153 (1), 16439357 (1) |
| cgmp |
20.13 |
5 |
10052946 (1), 2158671 (1), 18184973 (1), 17928024 (1) |
| cyclic amp |
14.31 |
1 |
10807316 (1) |
| okadaic acid |
13.17 |
1 |
9839968 (1) |
| phosphoinositide |
9.29 |
3 |
10022830 (3) |
| guanylate |
3.97 |
2 |
18456304 (1) |
About this table
|
Transcripts for SAG(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000541
Sigma-Aldrich siRNA and siRNA Panels for SAG  Sigma-Aldrich shRNA Panels and shRNA for SAG  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000541 REFSEQ mRNAs for SAG gene: NM_000541.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000541               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000541                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000541                                  untagged cDNA clone in CMV expression vector: NM_000541  Additional cDNA sequence: AK302211.1 BC144203.1 DQ980618.1 DQ980619.1 DQ980620.1 X12453.1 15 DOTS entries: DT.453624 DT.97777873 DT.40260079 DT.95155893 DT.100719466 DT.97785391 DT.97800611 DT.100735827 DT.101957023 DT.97801983 DT.97841966 DT.99949387 DT.100675003 DT.101969215 DT.40111426 24/121 AceView cDNA sequences (see all 121
):BU734369 AA918179 BQ636406 BQ639204 BQ636469 BQ639460 BQ639030 CA392727 BU733802 BQ636721 BQ637563 BX642424 BQ640103 BU733194 H38275 BQ638994 BQ635890 AL713222 BQ640682 BM709760 BQ639557 BQ637870 BU734243 BQ638493
highest scoring ESTs for SAG:AA013127 AA016043 AA017159 AA021568 AA047885 AA053951 AA057233 AA058468 AA904507 AA918179 Unigene Cluster for SAG: S-antigen; retina and pineal gland (arrestin) Hs.32721 [show with all ESTs]Unigene Representative Sequence: NM_000541
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SAG (see all 9
)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for SAG
3 Ensembl transcripts including schematic representations: ENST00000252857
ENST00000409110
ENST00000396530
|
Expression for SAG
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SAG expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SAG
1 / 2 / 3 8 probe-sets matching SAG gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CACCCTCAGC
SOURCE GeneReport for Unigene cluster: Hs.32721
Expression variation in blood from EXPOLDB for SAG UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523Tissue specificity: Retina and pineal gland |
Orthologs for SAG
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SAG gene from 5/10 species (see all 10
)
About this table Species with no ortholog for SAG
ENSEMBL Gene Tree for SAG | Paralogs for SAG(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SAG gene
- ARRB22 ARR32 ARRB12
|
SNPs/Variants for SAG(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SAG (up to first 250kb)
|
Disorders & Mutations for SAG
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 181031 UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523
S-antigen induces autoimmune uveitis Defects in SAG are a cause of congenital stationary night blindness Oguchi type (CSNBO) [MIM:258100]; also known as Oguchi disease. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. CSNBO is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation10/39 Novoseek disease relationships for SAG gene (see all 39
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| oguchis disease |
92.57 |
19 |
15295660 (2), 10549660 (2), 9020843 (2), 9501883 (2) (see all 12) |
| uveitis |
81.01 |
91 |
10471975 (4), 18958488 (4), 1635290 (3), 8162968 (2) (see all 52) |
| retinal degeneration |
70.48 |
10 |
12637747 (1), 17069872 (1), 10339543 (1), 15541899 (1) (see all 10) |
| night blindness |
68.91 |
8 |
10549660 (2), 11078833 (1), 9497461 (1), 9501883 (1) (see all 6) |
| uveitis posterior |
64.72 |
4 |
11263956 (1), 15010290 (1), 1289136 (1), 8223035 (1) |
| pineocytoma |
62.29 |
1 |
7821912 (1) |
| retinal vasculitis |
56.28 |
3 |
1598962 (2), 18421236 (1) |
| pineal tumors |
50.51 |
3 |
8360704 (2) |
| pineoblastoma |
49.92 |
2 |
7821912 (1), 8360704 (1) |
| retinitis pigmentosa |
48.76 |
6 |
1974891 (2), 10943838 (1), 18175313 (1), 9501883 (1) (see all 5) |
About this table
Human Gene Mutation Database: SAG
|
Medical News for SAG(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SAG (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/402 PubMed articles for SAG gene (see all 402
):- Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (PubMed id 9501883)1, 3, 4 Sippel K.C.... Dryja T.P. (1998)
- Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. (PubMed id 9020843)1, 3, 4 Yamamoto S.... Dryja T.P. (1997)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)3, 4 Hillier L.W....Wilson R.K. (2005)
- Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland. (PubMed id 2249983)2, 3 Yamaki K....Shinohara T. (1990)
- The sequence of human retinal S-antigen reveals similarities with alpha-transducin. (PubMed id 3164688)3, 4 Yamaki K.... Shinohara T. (1988)
- Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. (PubMed id 7695743)1, 3 Calabrese G....De Blasi A. (1994)
- In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases. (PubMed id 18175313)1, 3 Mokarzel-Falcon L....Montero-Cabrera L.A. (2008)
- Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate. (PubMed id 15713799)1, 3 Howard O.M....Oppenheim J.J. (2005)
- Structure and function of the visual arrestin oligomer. (PubMed id 17332750)1, 3 Hanson S.M....Gurevich V.V. (2007)
- Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins. (PubMed id 10952973)1, 3 Lee K.B....Hosey M.M. (2000)
|
Search for SAG
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SAG
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SAG
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SAG(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Mutations of the SAG gene | http://www.retina-international.com/sci-news/sagmut.htm | | GeneReviews | http://www.genetests.org/query?gene=SAG |
|
| | | About This Section
| --
| Services for SAG(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SAG:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for SAG |
|
 |
 | | | Antibodies for SAG |
| |
GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
|