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    TOLLIP toll interacting protein [ Homo sapiens (human) ]

    Gene ID: 54472, updated on 27-Nov-2024

    Summary

    Official Symbol
    TOLLIPprovided by HGNC
    Official Full Name
    toll interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16476
    See related
    Ensembl:ENSG00000078902 MIM:606277; AllianceGenome:HGNC:16476
    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
    IL-1RAcPIP
    Summary
    This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in brain (RPKM 31.0), testis (RPKM 17.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TOLLIP in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1274371..1309632, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1345549..1381261, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1295601..1330862, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene MUC5B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1283433-1283938 Neighboring gene microRNA 6744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1319647-1320378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1320379-1321110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1323133-1323656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1323657-1324180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1324181-1324704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1331258-1332019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3053 Neighboring gene TOLLIP divergent transcript Neighboring gene uncharacterized LOC124902606

    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
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 JRFL and HXB2 upregulate TOLLIP expression in primary monocyte derived dendritic cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 JRFL and HXB2 Env (gp120) upregulate TOLLIP expression in primary monocyte derived dendritic cells PubMed
    Pr55(Gag) gag HIV-1 JRFL Gag (p24) expressing virus like particles upregulates TOLLIP expression in primary monocyte derived macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33531

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables Toll-like receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables interleukin-1, type I receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-1-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukocyte activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extrinsic component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    toll-interacting protein
    Names
    adapter protein

    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_001318512.2NP_001305441.1  toll-interacting protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC136297, AK090850, AL136835, HY031351
      UniProtKB/TrEMBL
      A0AAG2UV02, B3KR28, E9PQ25
      Related
      ENSP00000434494.1, ENST00000530541.1
      Conserved Domains (2) summary
      cd04016
      Location:12122
      C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)
      cd14363
      Location:180220
      CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins
    2. NM_001318514.2NP_001305443.1  toll-interacting protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC136297, AK090850, AK127123, AL136835, DA227912
      Consensus CDS
      CCDS81532.1
      UniProtKB/TrEMBL
      E7EN89
      Related
      ENSP00000434035.1, ENST00000527886.5
      Conserved Domains (2) summary
      cd04016
      Location:1103
      C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)
      cd14363
      Location:161201
      CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins
    3. NM_001318515.2NP_001305444.1  toll-interacting protein isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC136297, AK090850, AL136835, DB220293, HY031351
      Consensus CDS
      CCDS81533.1
      UniProtKB/TrEMBL
      E9PNS3
      Related
      ENSP00000432778.1, ENST00000527938.5
    4. NM_001318516.2NP_001305445.1  toll-interacting protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC136297, AK090850, AK096693, AL136835, HY031351
      Consensus CDS
      CCDS81534.1
      UniProtKB/TrEMBL
      F2Z2Y8, Q8N8J5
      Related
      ENSP00000432668.1, ENST00000525159.5
      Conserved Domains (2) summary
      cd14363
      Location:169209
      CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins
      cl14603
      Location:61111
      C2; C2 domain
    5. NM_019009.4NP_061882.2  toll-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_061882.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA861717, AL136835, DB039994
      Consensus CDS
      CCDS7723.1
      UniProtKB/Swiss-Prot
      B3KXC6, Q9H0E2, Q9H9E6, Q9UJ69
      UniProtKB/TrEMBL
      E7EN89, Q6FIE9
      Related
      ENSP00000314733.5, ENST00000317204.11
      Conserved Domains (2) summary
      cd04016
      Location:52172
      C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)
      cd14363
      Location:230270
      CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      1274371..1309632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427134.1XP_047283090.1  toll-interacting protein isoform X4

    2. XM_017017931.2XP_016873420.1  toll-interacting protein isoform X3

    3. XM_047427135.1XP_047283091.1  toll-interacting protein isoform X1

    4. XM_047427136.1XP_047283092.1  toll-interacting protein isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791792.1 Reference GRCh38.p14 PATCHES

      Range
      8637..43898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333113.1XP_054189088.1  toll-interacting protein isoform X4

    2. XM_054333114.1XP_054189089.1  toll-interacting protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      1345549..1381261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369154.1XP_054225129.1  toll-interacting protein isoform X5

    2. XM_054369157.1XP_054225132.1  toll-interacting protein isoform X3

    3. XM_054369155.1XP_054225130.1  toll-interacting protein isoform X1

    4. XM_054369156.1XP_054225131.1  toll-interacting protein isoform X2