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    PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [ Homo sapiens (human) ]

    Gene ID: 55824, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PAG1provided by HGNC
    Official Full Name
    phosphoprotein membrane anchor with glycosphingolipid microdomains 1provided by HGNC
    Primary source
    HGNC:HGNC:30043
    See related
    Ensembl:ENSG00000076641 MIM:605767; AllianceGenome:HGNC:30043
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CBP; PAG
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 8.7), placenta (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAG1 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (80967810..81112068, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (81399402..81543674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (81880045..82024303, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 704 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:81734976-81736175 Neighboring gene high mobility group box 1 pseudogene 41 Neighboring gene MPRA-validated peak7088 silencer Neighboring gene uncharacterized LOC107986894 Neighboring gene HNF4 motif-containing MPRA enhancer 108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27570 Neighboring gene uncharacterized LOC124901967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27578 Neighboring gene uncharacterized LOC105375924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19327 Neighboring gene NANOG hESC enhancer GRCh37_chr8:82108601-82109175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27580 Neighboring gene ubiquitin conjugating enzyme E2 H pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PAG1 directs SRC-family kinase intracellular localization to mediate receptor tyrosine kinase-induced differentiation. Foltz L, et al. Mol Biol Cell, 2020 Sep 15. PMID 32726167, Free PMC Article
    2. Transmembrane adaptor protein PAG1 is a novel tumor suppressor in neuroblastoma. Agarwal S, et al. Oncotarget, 2016 Apr 26. PMID 26993602, Free PMC Article
    3. Upregulation of PAG1/Cbp contributes to adipose-derived mesenchymal stem cells promoted tumor progression and chemoresistance in breast cancer. Lu Y, et al. Biochem Biophys Res Commun, 2017 Dec 16. PMID 29079189
    4. Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants. Vicente CT, et al. Am J Hum Genet, 2015 Aug 6. PMID 26211970, Free PMC Article
    5. [Influence of phosphoprotein associated with glycosphingolipid microdomains 1 on biologic behavior of human prostatic cancer cell line in-vitro]. Yu WJ, et al. Zhonghua Bing Li Xue Za Zhi, 2010 Sep. PMID 21092590

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of phosphoprotein associated with glycosphingolipid-enriched microdomains 1 (PAG1) in regulating the progression of oral squamous cell carcinoma.
      Title: The role of phosphoprotein associated with glycosphingolipid-enriched microdomains 1 (PAG1) in regulating the progression of oral squamous cell carcinoma.
    2. Transmembrane adaptor protein PAG is a mediator of PD-1 inhibitory signaling in human T cells.
      Title: Transmembrane adaptor protein PAG is a mediator of PD-1 inhibitory signaling in human T cells.
    3. PAG1 stimulates proliferation and metastasis of nasopharyngeal carcinoma through downregulating PTEN.
      Title: PAG1 stimulates proliferation and metastasis of nasopharyngeal carcinoma through downregulating PTEN.
    4. PAG1 directs SRC-family kinase intracellular localization to mediate receptor tyrosine kinase-induced differentiation.
      Title: PAG1 directs SRC-family kinase intracellular localization to mediate receptor tyrosine kinase-induced differentiation.
    5. PAG1 conferred inherent radioresistance by activating STAT3.
      Title: PAG1 promotes the inherent radioresistance of laryngeal cancer cells via activation of STAT3.
    6. Low PAG1 expression is associated neuroblastoma.
      Title: Transmembrane adaptor protein PAG1 is a novel tumor suppressor in neuroblastoma.
    7. Our study highlights the underlying mechanism of cross interaction between ASCs and breast cancer cells, and indicates that PAG1/Cbp in breast cancer cell may modulate tumor progression and acquired chemoresistance in the ASCs-associated breast cancer microenvironment through Src and AKT/mTOR pathways.
      Title: Upregulation of PAG1/Cbp contributes to adipose-derived mesenchymal stem cells promoted tumor progression and chemoresistance in breast cancer.
    8. Up-regulated expression of CBP in Jurkat cells could reduce cell homogeneity and promote cell apoptosis
      Title: [Phenotypic changes and apoptosis of Jurkat cells induced by over-expression of C-Src kinase-binding protein].
    9. No association Pag1 mutation with patient with Schizophrenia.
      Title: Sequencing and expression analyses of the synaptic lipid raft adapter gene PAG1 in schizophrenia.
    10. The risk-associated allele of rs2370615 predisposes to allergic disease by increasing PAG1 expression, which might promote B cell activation and have a pro-inflammatory effect.
      Title: Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37858, MGC138364

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH2 domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    phosphoprotein associated with glycosphingolipid-enriched microdomains 1
    Names
    Csk-binding protein
    phosphoprotein associated with glycosphingolipid microdomains 1
    transmembrane adapter protein PAG
    transmembrane adaptor protein PAG
    transmembrane phosphoprotein Cbp

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018440.4 → NP_060910.3  phosphoprotein associated with glycosphingolipid-enriched microdomains 1

      See identical proteins and their annotated locations for NP_060910.3

      Status: REVIEWED

      Source sequence(s)
      AA766638, AC012533, AK000680, BC090931, BX426120, CB960651
      Consensus CDS
      CCDS6227.1
      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0
      Related
      ENSP00000220597.3, ENST00000220597.4
      Conserved Domains (1) summary
      pfam15347
      Location:2 → 432
      PAG; Phosphoprotein associated with glycosphingolipid-enriched

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      80967810..81112068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421993.1 → XP_047277949.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    2. XM_047421992.1 → XP_047277948.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    3. XM_047421991.1 → XP_047277947.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    4. XM_047421990.1 → XP_047277946.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    5. XM_047421989.1 → XP_047277945.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    6. XM_047421985.1 → XP_047277941.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    7. XM_047421986.1 → XP_047277942.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    8. XM_047421988.1 → XP_047277944.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    9. XM_047421987.1 → XP_047277943.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    10. XM_047421984.1 → XP_047277940.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    11. XM_047421981.1 → XP_047277937.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    12. XM_047421983.1 → XP_047277939.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    13. XM_047421980.1 → XP_047277936.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    14. XM_017013642.3 → XP_016869131.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0
      Conserved Domains (1) summary
      pfam15347
      Location:2 → 432
      PAG; Phosphoprotein associated with glycosphingolipid-enriched

    15. XM_047421982.1 → XP_047277938.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    16. XM_017013643.2 → XP_016869132.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0
      Conserved Domains (1) summary
      pfam15347
      Location:2 → 432
      PAG; Phosphoprotein associated with glycosphingolipid-enriched

    17. XM_047421994.1 → XP_047277950.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X2

    RNA

    1. XR_007060746.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      81399402..81543674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360841.1 → XP_054216816.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    2. XM_054360838.1 → XP_054216813.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    3. XM_054360837.1 → XP_054216812.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    4. XM_054360836.1 → XP_054216811.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    5. XM_054360835.1 → XP_054216810.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    6. XM_054360834.1 → XP_054216809.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    7. XM_054360839.1 → XP_054216814.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    8. XM_054360840.1 → XP_054216815.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K1A3, Q2M1Z9, Q5BKU4, Q9NWQ8, Q9NYK0

    9. XM_054360842.1 → XP_054216817.1  phosphoprotein associated with glycosphingolipid-enriched microdomains 1 isoform X2

    RNA

    1. XR_008487864.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007549.1: Suppressed sequence

      Description
      NM_001007549.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWQ8.2 GenPept UniProtKB/Swiss-Prot:Q9NWQ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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