Details for: SAG

Gene ID: 6295

Symbol: SAG

Ensembl ID: ENSG00000130561

Description: S-antigen visual arrestin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 24.8159
    Cell Significance Index: -3.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 14.9028
    Cell Significance Index: -3.7800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.6988
    Cell Significance Index: 737.3400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.1388
    Cell Significance Index: -3.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.5604
    Cell Significance Index: -4.1800
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 1.4917
    Cell Significance Index: 13.1400
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.2309
    Cell Significance Index: 9.4700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.2134
    Cell Significance Index: 19.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.3707
    Cell Significance Index: 22.7300
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.3613
    Cell Significance Index: 4.3800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.2434
    Cell Significance Index: 3.1500
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.2164
    Cell Significance Index: 1.1800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2089
    Cell Significance Index: 2.4900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2016
    Cell Significance Index: 2.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1982
    Cell Significance Index: 37.7300
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.1912
    Cell Significance Index: 2.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1264
    Cell Significance Index: 12.5000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1097
    Cell Significance Index: 1.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1080
    Cell Significance Index: 1.8500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1004
    Cell Significance Index: 6.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0906
    Cell Significance Index: 2.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0806
    Cell Significance Index: 4.2300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0760
    Cell Significance Index: 1.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0713
    Cell Significance Index: 7.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0686
    Cell Significance Index: 61.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0580
    Cell Significance Index: 9.4300
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.0390
    Cell Significance Index: 0.4900
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0372
    Cell Significance Index: 0.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0307
    Cell Significance Index: 0.8200
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: 0.0215
    Cell Significance Index: 0.2100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0211
    Cell Significance Index: 1.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0180
    Cell Significance Index: 0.5200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0171
    Cell Significance Index: 1.1900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0129
    Cell Significance Index: 2.5900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0063
    Cell Significance Index: 8.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0053
    Cell Significance Index: 0.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0051
    Cell Significance Index: 3.5600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0037
    Cell Significance Index: 0.4700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0018
    Cell Significance Index: 0.0500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0015
    Cell Significance Index: 0.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0014
    Cell Significance Index: 0.2800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0010
    Cell Significance Index: 1.9400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0001
    Cell Significance Index: -0.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0003
    Cell Significance Index: -0.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0014
    Cell Significance Index: -2.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0015
    Cell Significance Index: -0.6500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0017
    Cell Significance Index: -0.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0017
    Cell Significance Index: -2.6600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0025
    Cell Significance Index: -0.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0050
    Cell Significance Index: -3.7800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0050
    Cell Significance Index: -2.7500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0057
    Cell Significance Index: -2.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0063
    Cell Significance Index: -4.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0068
    Cell Significance Index: -1.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0072
    Cell Significance Index: -0.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0079
    Cell Significance Index: -0.3600
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.0080
    Cell Significance Index: -0.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0083
    Cell Significance Index: -4.6600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0088
    Cell Significance Index: -0.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0096
    Cell Significance Index: -2.7500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0096
    Cell Significance Index: -0.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0117
    Cell Significance Index: -0.1600
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0142
    Cell Significance Index: -0.1600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0170
    Cell Significance Index: -0.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0187
    Cell Significance Index: -1.3200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0194
    Cell Significance Index: -0.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0198
    Cell Significance Index: -2.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0203
    Cell Significance Index: -2.5000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0217
    Cell Significance Index: -0.4500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0219
    Cell Significance Index: -0.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0235
    Cell Significance Index: -4.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0240
    Cell Significance Index: -0.7700
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0240
    Cell Significance Index: -0.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0244
    Cell Significance Index: -0.5200
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0285
    Cell Significance Index: -0.4000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0288
    Cell Significance Index: -4.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0292
    Cell Significance Index: -0.6400
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0292
    Cell Significance Index: -0.4100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0315
    Cell Significance Index: -1.4700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0316
    Cell Significance Index: -4.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0323
    Cell Significance Index: -3.7600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0324
    Cell Significance Index: -3.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0333
    Cell Significance Index: -3.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0366
    Cell Significance Index: -2.8100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0367
    Cell Significance Index: -3.8200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0374
    Cell Significance Index: -0.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0377
    Cell Significance Index: -4.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0382
    Cell Significance Index: -1.6900
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0387
    Cell Significance Index: -0.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0475
    Cell Significance Index: -2.4700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0477
    Cell Significance Index: -1.5100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0484
    Cell Significance Index: -0.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0485
    Cell Significance Index: -1.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0509
    Cell Significance Index: -1.3600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0518
    Cell Significance Index: -3.8600
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0535
    Cell Significance Index: -0.2800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0543
    Cell Significance Index: -1.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The SAG gene encodes for the S-arrestin protein, also known as visual arrestin, which is a phosphoprotein that binds to activated rhodopsin, a key photopigment in rod photoreceptors. Upon binding, S-arrestin initiates a signaling cascade that terminates the visual signal by phosphorylating and inactivating the G-protein coupled receptor (GPCR) complex. This process is essential for the recovery of visual function and the regulation of photoreceptor sensitivity. **Pathways and Functions:** The SAG gene is involved in the following pathways: 1. **Activation of the phototransduction cascade**: S-arrestin binds to activated rhodopsin, initiating a signaling cascade that terminates the visual signal. 2. **Cell surface receptor signaling pathway**: S-arrestin regulates the activity of GPCRs, including rhodopsin, by phosphorylating and inactivating the receptor complex. 3. **Inactivation, recovery, and regulation of the phototransduction cascade**: S-arrestin plays a critical role in terminating the visual signal and regulating photoreceptor sensitivity. 4. **Opsin binding**: S-arrestin binds to activated opsin, regulating the visual signal. 5. **Photoreceptor inner segment and outer segment**: S-arrestin is localized to the photoreceptor inner segment and outer segment, where it regulates visual signal termination. **Clinical Significance:** Dysregulation of the SAG gene has been implicated in various retinal and visual disorders, including: 1. **Retinitis pigmentosa**: A group of inherited disorders characterized by progressive vision loss due to photoreceptor degeneration. 2. **Macular degeneration**: A leading cause of vision loss in older adults, characterized by the degeneration of photoreceptors and retinal pigment epithelium. 3. **Hereditary retinal degeneration**: A group of inherited disorders characterized by progressive vision loss due to photoreceptor degeneration. In conclusion, the SAG gene plays a critical role in the regulation of visual phototransduction and has significant clinical implications for the diagnosis and treatment of retinal and visual disorders. **References:** * [Insert relevant references] Note: As an expert in immunology, I have focused on the SAG gene's role in visual phototransduction, but it is essential to acknowledge the gene's expression in other cell types, such as colon goblet cells and cerebral cortex GABAergic interneurons, as mentioned in the description.

Genular Protein ID: 3500387621

Symbol: ARRS_HUMAN

Name: S-arrestin

UniProtKB Accession Codes:

P10523 A0FDN6 Q53SV3 Q99858

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 18 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3164688

Title: The sequence of human retinal S-antigen reveals similarities with alpha-transducin.

PubMed ID: 3164688

DOI: 10.1016/0014-5793(88)81298-5

PubMed ID: 9020843

Title: Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.

PubMed ID: 9020843

DOI: 10.1038/ng0297-175

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 3720866

Title: Ultrastructural localization of retinal S antigen in the human retina.

PubMed ID: 3720866

DOI: 10.1016/0014-4835(86)90007-2

PubMed ID: 7670478

Title: A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.

PubMed ID: 7670478

DOI: 10.1038/ng0795-360

PubMed ID: 9565049

Title: Arrestin gene mutations in autosomal recessive retinitis pigmentosa.

PubMed ID: 9565049

DOI: 10.1001/archopht.116.4.498

PubMed ID: 21288033

Title: Robust self-association is a common feature of mammalian visual arrestin-1.

PubMed ID: 21288033

DOI: 10.1021/bi1018607

PubMed ID: 26200343

Title: Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.

PubMed ID: 26200343

DOI: 10.1038/nature14656

PubMed ID: 28753425

Title: Identification of Phosphorylation Codes for Arrestin Recruitment by G Protein-Coupled Receptors.

PubMed ID: 28753425

DOI: 10.1016/j.cell.2017.07.002

PubMed ID: 9452120

Title: Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.

PubMed ID: 9452120

DOI: 10.1002/humu.1380110199

PubMed ID: 9501883

Title: Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.

PubMed ID: 9501883

PubMed ID: 15234147

Title: Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.

PubMed ID: 15234147

DOI: 10.1016/j.ophtha.2003.11.006

PubMed ID: 22665972

Title: A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.

PubMed ID: 22665972

PubMed ID: 28549094

Title: A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.

PubMed ID: 28549094

DOI: 10.1167/iovs.16-21341

PubMed ID: 33047631

Title: Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

PubMed ID: 33047631

DOI: 10.1080/13816810.2020.1832533

Sequence Information:

  • Length: 405
  • Mass: 45120
  • Checksum: CBBF65845A5F891E
  • Sequence:
    • MAASGKTSKS EPNHVIFKKI SRDKSVTIYL GNRDYIDHVS QVQPVDGVVL VDPDLVKGKK 
VYVTLTCAFR YGQEDIDVIG LTFRRDLYFS RVQVYPPVGA ASTPTKLQES LLKKLGSNTY 
PFLLTFPDYL PCSVMLQPAP QDSGKSCGVD FEVKAFATDS TDAEEDKIPK KSSVRLLIRK 
VQHAPLEMGP QPRAEAAWQF FMSDKPLHLA VSLNKEIYFH GEPIPVTVTV TNNTEKTVKK 
IKAFVEQVAN VVLYSSDYYV KPVAMEEAQE KVPPNSTLTK TLTLLPLLAN NRERRGIALD 
GKIKHEDTNL ASSTIIKEGI DRTVLGILVS YQIKVKLTVS GFLGELTSSE VATEVPFRLM 
HPQPEDPAKE SYQDANLVFE EFARHNLKDA GEAEEGKRDK NDVDE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.