The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008] See more...

Aliases for PAG1 Gene

Aliases for PAG1 Gene

  • Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1 2 3 5
  • Csk-Binding Protein 2 3 4
  • Phosphoprotein Associated With Glycosphingolipid-Enriched Microdomains 1 3 4
  • Phosphoprotein Associated With Glycosphingolipid Microdomains 1 2 3
  • Transmembrane Adapter Protein PAG 3 4
  • Transmembrane Adaptor Protein PAG 2 3
  • Transmembrane Phosphoprotein Cbp 3 4
  • CBP 3 4
  • PAG 3 4

External Ids for PAG1 Gene

Previous GeneCards Identifiers for PAG1 Gene

  • GC08M082049
  • GC08M081880
  • GC08M077369

Summaries for PAG1 Gene

Entrez Gene Summary for PAG1 Gene

  • The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]

GeneCards Summary for PAG1 Gene

PAG1 (Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1) is a Protein Coding gene. Diseases associated with PAG1 include Chromosome 8Q21.11 Deletion Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity and SH2 domain binding.

UniProtKB/Swiss-Prot Summary for PAG1 Gene

  • Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling.

Gene Wiki entry for PAG1 Gene

Additional gene information for PAG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAG1 Gene

Genomics for PAG1 Gene

GeneHancer (GH) Regulatory Elements for PAG1 Gene

Promoters and enhancers for PAG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J081113 Enhancer 0.6 ENCODE dbSUPER 500.7 -1.8 -1773 0.2 NR2F2 RXRA SP1 PAG1 lnc-PAG1-2
GH08J081088 Enhancer 1 ENCODE dbSUPER 22 +22.0 21987 2.6 ZSCAN5C USF1 CTCF ZNF639 ZIC2 CLOCK TRIM28 OSR2 WT1 ZBTB17 PAG1 lnc-ZNF704-8
GH08J081073 Enhancer 0.9 ENCODE dbSUPER 21 +36.4 36391 4 ZSCAN5C SP1 EP300 RELA REST TRIM22 OSR2 BCL11A TCF12 CBFB PAG1 lnc-ZNF704-8
GH08J081105 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +2.7 2706 8.1 EP300 NRF1 CTCF ZIC2 POLR2A ZBTB26 CTBP1 HDAC2 MXI1 ZNF341 PAG1 ENSG00000253214 lnc-ZNF704-8
GH08J080998 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13.7 +103.2 103168 21.8 CTCF SP1 EP300 ZIC2 REST RELA MEF2C RAD21 TRIM22 SMC3 PAG1 RPSAP47 TPD52 lnc-ZNF704-5 ENSG00000254060
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAG1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAG1

Top Transcription factor binding sites by QIAGEN in the PAG1 gene promoter:
  • FOXL1
  • HOXA3
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • STAT5A

Genomic Locations for PAG1 Gene

Genomic Locations for PAG1 Gene
chr8:80,967,810-81,112,068
(GRCh38/hg38)
Size:
144,259 bases
Orientation:
Minus strand
chr8:81,880,045-82,024,303
(GRCh37/hg19)
Size:
144,259 bases
Orientation:
Minus strand

Genomic View for PAG1 Gene

Genes around PAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAG1 Gene

Proteins for PAG1 Gene

  • Protein details for PAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWQ8-PHAG1_HUMAN
    Recommended name:
    Phosphoprotein associated with glycosphingolipid-enriched microdomains 1
    Protein Accession:
    Q9NWQ8
    Secondary Accessions:
    • A8K1A3
    • Q2M1Z9
    • Q5BKU4
    • Q9NYK0

    Protein attributes for PAG1 Gene

    Size:
    432 amino acids
    Molecular mass:
    46981 Da
    Quaternary structure:
    • Interacts with FYN. When phosphorylated, interacts with CSK. Interacts with SLC9A3R1/EBP50. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Interacts with LYN on plasma membrane lipid rafts. Identified in a complex with LYN and STAT3.

neXtProt entry for PAG1 Gene

Post-translational modifications for PAG1 Gene

  • Palmitoylated.
  • Phosphorylated by FYN on Tyr-317 in resting T-cells; which promotes interaction with CSK. Dephosphorylated by PTPRC/CD45 upon TCR activation; which leads to CSK dissociation. May also be dephosphorylated by PTPN11. Hyperphosphorylated in mast cells upon FCER1 activation. Phosphorylated by LYN.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAG1 Gene

No data available for DME Specific Peptides for PAG1 Gene

Domains & Families for PAG1 Gene

Gene Families for PAG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PAG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PAG1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane phosphoprotein Cbp (PAG1_HUMAN)
genes like me logo Genes that share domains with PAG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PAG1 Gene

Function for PAG1 Gene

Molecular function for PAG1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling.

Phenotypes From GWAS Catalog for PAG1 Gene

Gene Ontology (GO) - Molecular Function for PAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity NAS 10790433
GO:0005515 protein binding IPI 10790433
GO:0042169 SH2 domain binding IDA 10790433
genes like me logo Genes that share ontologies with PAG1: view
genes like me logo Genes that share phenotypes with PAG1: view

Animal Models for PAG1 Gene

MGI Knock Outs for PAG1:
  • Pag1 Pag1<tm1Sbln>
  • Pag1 Pag1<tm1Kplm>
  • Pag1 Pag1<tm1.1Tara>

Animal Model Products

CRISPR Products

miRNA for PAG1 Gene

miRTarBase miRNAs that target PAG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAG1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAG1 Gene

Localization for PAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAG1 Gene

Cell membrane; Single-pass type III membrane protein. Note=Present in lipid rafts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAG1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045121 membrane raft IBA,IDA 10790433
genes like me logo Genes that share ontologies with PAG1: view

Pathways & Interactions for PAG1 Gene

genes like me logo Genes that share pathways with PAG1: view

Gene Ontology (GO) - Biological Process for PAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007165 signal transduction TAS 10790433
GO:0009967 positive regulation of signal transduction IEA --
GO:0035556 intracellular signal transduction IDA 10790433
genes like me logo Genes that share ontologies with PAG1: view

No data available for SIGNOR curated interactions for PAG1 Gene

Drugs & Compounds for PAG1 Gene

(3) Drugs for PAG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PAG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAG1: view

Transcripts for PAG1 Gene

mRNA/cDNA for PAG1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAG1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAG1 Gene

No ASD Table

Relevant External Links for PAG1 Gene

GeneLoc Exon Structure for
PAG1

Expression for PAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAG1 Gene

This gene is overexpressed in Whole Blood (x8.8).

Protein differential expression in normal tissues from HIPED for PAG1 Gene

This gene is overexpressed in Adrenal (19.4), Peripheral blood mononuclear cells (16.2), CD4 Tcells (10.2), and CD8 Tcells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAG1 Gene



Protein tissue co-expression partners for PAG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAG1

SOURCE GeneReport for Unigene cluster for PAG1 Gene:

Hs.266175

mRNA Expression by UniProt/SwissProt for PAG1 Gene:

Q9NWQ8-PHAG1_HUMAN
Tissue specificity: Ubiquitously expressed. Present in germinal center B-cells, plasma cells, T-cells, monocytes and platelets (at protein level).

Evidence on tissue expression from TISSUES for PAG1 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with PAG1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PAG1 Gene

Orthologs for PAG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PAG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAG1 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAG1 31 30
  • 84.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAG1 31 30
  • 81.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pag1 30
  • 80.79 (n)
mouse
(Mus musculus)
Mammalia Pag1 17 31 30
  • 80.16 (n)
oppossum
(Monodelphis domestica)
Mammalia PAG1 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAG1 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAG1 31 30
  • 67.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAG1 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pag1 30
  • 61.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15293 30
zebrafish
(Danio rerio)
Actinopterygii pag1 31 30
  • 52.67 (n)
OneToOne
Species where no ortholog for PAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PAG1 Gene

ENSEMBL:
Gene Tree for PAG1 (if available)
TreeFam:
Gene Tree for PAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAG1: view image

Paralogs for PAG1 Gene

No data available for Paralogs for PAG1 Gene

Variants for PAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAG1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
717223 Likely Benign: not provided 80,976,633(-) T/A MISSENSE_VARIANT
740708 Likely Benign: not provided 80,993,094(-) G/A INTRON_VARIANT
778360 Benign: not provided 80,985,200(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PAG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAG1 Gene

Variant ID Type Subtype PubMed ID
dgv2095e212 CNV loss 25503493
esv2658475 CNV deletion 23128226
esv2675037 CNV deletion 23128226
esv28663 CNV loss 19812545
esv34101 CNV loss 18971310
esv3543732 CNV deletion 23714750
esv3572855 CNV loss 25503493
esv3617787 CNV loss 21293372
esv3617788 CNV loss 21293372
esv3617789 CNV loss 21293372
esv3891422 CNV loss 25118596
nsv396304 CNV deletion 16902084
nsv824673 CNV loss 20364138
nsv831367 CNV gain 17160897

Variation tolerance for PAG1 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAG1 Gene

Human Gene Mutation Database (HGMD)
PAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAG1 Gene

Disorders for PAG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAG1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 8q21.11 deletion syndrome
  • 8q21.11 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PAG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PAG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAG1 Gene

Publications for PAG1 Gene

  1. Phosphoprotein associated with glycosphingolipid-enriched microdomains (PAG), a novel ubiquitously expressed transmembrane adaptor protein, binds the protein tyrosine kinase csk and is involved in regulation of T cell activation. (PMID: 10790433) Brdicka T … Schraven B (The Journal of experimental medicine 2000) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Oncogenic association of the Cbp/PAG adaptor protein with the Lyn tyrosine kinase in human B-NHL rafts. (PMID: 18070987) Tauzin S … Hoessli DC (Blood 2008) 3 4 54
  5. A novel negative regulatory function of the phosphoprotein associated with glycosphingolipid-enriched microdomains: blocking Ras activation. (PMID: 17389760) Smida M … Lindquist JA (Blood 2007) 3 23 54

Products for PAG1 Gene

Sources for PAG1 Gene