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    TSLP thymic stromal lymphopoietin [ Homo sapiens (human) ]

    Gene ID: 85480, updated on 22-Apr-2024

    Summary

    Official Symbol
    TSLPprovided by HGNC
    Official Full Name
    thymic stromal lymphopoietinprovided by HGNC
    Primary source
    HGNC:HGNC:30743
    See related
    Ensembl:ENSG00000145777 MIM:607003; AllianceGenome:HGNC:30743
    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
    Summary
    This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. In addition, the shorter (predominant) isoform is an antimicrobial protein, displaying antibacterial and antifungal activity against B. cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C. albicans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]
    Expression
    Broad expression in gall bladder (RPKM 3.6), liver (RPKM 3.0) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (111070062..111078026)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (111580695..111588660)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110405760..110413724)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 2 pseudogene Neighboring gene uncharacterized LOC105379121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22888 Neighboring gene WD repeat domain 36 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:110465656-110466261 Neighboring gene proline rich nuclear receptor coactivator 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog
    Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog
    Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
    EBI GWAS Catalog
    GWAS identifies four novel eosinophilic esophagitis loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
    EBI GWAS Catalog
    Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytokine activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables interleukin-7 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables interleukin-7 receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chemokine (C-C motif) ligand 1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chemokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of chemokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of granulocyte colony-stimulating factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-10 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-10 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-13 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-13 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-5 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-5 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mast cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of receptor signaling pathway via STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    thymic stromal lymphopoietin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033035.5NP_149024.1  thymic stromal lymphopoietin isoform 1 precursor

      See identical proteins and their annotated locations for NP_149024.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as lfTSLP). This isoform is found in much lower abundance compared to the shorter isoform sfTSLP (PMID:24850429) and is known to stimulate allergic inflammation in diseases such as asthma and COPD.
      Source sequence(s)
      AC008572, AL833421, AY037115
      Consensus CDS
      CCDS4101.1
      UniProtKB/Swiss-Prot
      G3XAM8, Q8IW99, Q969D9, Q96AU7
      Related
      ENSP00000339804.3, ENST00000344895.4
      Conserved Domains (1) summary
      pfam15216
      Location:29153
      TSLP; Thymic stromal lymphopoietin
    2. NM_138551.5NP_612561.2  thymic stromal lymphopoietin isoform 2

      See identical proteins and their annotated locations for NP_612561.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as sfTSLP) lacks two 5' exons but contains an alternate 5' exon, differs in the 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. This is the predominant isoform, and it exhibits a much stronger antimicrobial activity compared to the longer isoform lfTSLP (PMID:24850429).
      Source sequence(s)
      AC008572, AL833421, BU571002
      UniProtKB/Swiss-Prot
      Q969D9
      Related
      ENSP00000427827.1, ENST00000379706.4
      Conserved Domains (1) summary
      pfam15216
      Location:157
      TSLP; Thymic stromal lymphopoietin

    RNA

    1. NR_045089.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008572, AL833421, BC040592

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      111070062..111078026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417847.1XP_047273803.1  thymic stromal lymphopoietin isoform X2

    2. XM_047417846.1XP_047273802.1  thymic stromal lymphopoietin isoform X1

    3. XM_011543698.2XP_011542000.1  thymic stromal lymphopoietin isoform X3

      See identical proteins and their annotated locations for XP_011542000.1

      UniProtKB/Swiss-Prot
      Q969D9
      Conserved Domains (1) summary
      pfam15216
      Location:157
      TSLP; Thymic stromal lymphopoietin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      111580695..111588660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353732.1XP_054209707.1  thymic stromal lymphopoietin isoform X2

    2. XM_054353733.1XP_054209708.1  thymic stromal lymphopoietin isoform X3