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TOLLIP toll interacting protein [ Homo sapiens (human) ]

Gene ID: 54472, updated on 6-Jan-2019

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
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

Genomic context

See TOLLIP in Genome Data Viewer
Location:
11p15.5
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (1274368..1309662, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1295598..1330892, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene microRNA 6744 Neighboring gene uncharacterized LOC105376512 Neighboring gene TOLLIP antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC105376513

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
NHGRI GWA 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 BioSystems

  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • IL-1 signaling pathway, organism-specific biosystem (from WikiPathways)
    IL-1 signaling pathway, organism-specific biosystemThe IL-1 family of cytokines currently consists of 11 members which are encoded by distinct genes and includes IL-1?, IL-1?, and the IL-1 Receptor antagonist (IL-1RA). The major role of IL-1 type cyt...
  • IL1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL1-mediated signaling events, organism-specific biosystem
    IL1-mediated signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Structural Pathway of Interleukin 1 (IL-1), organism-specific biosystem (from WikiPathways)
    Structural Pathway of Interleukin 1 (IL-1), organism-specific biosystemPathway published in http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1003470 IL-1 signaling pathway reconstructed by combining related pathways and information from the litera...
  • Toll-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
    Toll-like Receptor Signaling, organism-specific biosystemThis pathway is based on the figure 1 of "Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study" (see bibliography). TLR and NFkB are important in inflamma...
  • Toll-like Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Toll-like Receptor Signaling Pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
  • Toll-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    Toll-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...
  • Toll-like receptor signaling pathway, conserved biosystem (from KEGG)
    Toll-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting microbial pathogens and generating innate immune responses. Toll-like receptors (TLRs) are membrane-bound receptors id...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33531

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SUMO binding IEA
Inferred from Electronic Annotation
more info
 
Toll-like receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
interleukin-1, type I receptor binding IEA
Inferred from Electronic Annotation
more info
 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
leukocyte activation NAS
Non-traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
protein localization to endosome IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm IC
Inferred by Curator
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
interleukin-1 receptor complex NAS
Non-traceable Author Statement
more info
PubMed 
interleukin-18 receptor complex NAS
Non-traceable Author Statement
more info
PubMed 
nuclear body IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
toll-interacting protein
Names
adapter protein

NCBI Reference Sequences (RefSeq)

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_001318512.1NP_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)
    AA861717, AC136297, AK090850, AL136835, HY031351
    UniProtKB/Swiss-Prot
    Q9H0E2
    UniProtKB/TrEMBL
    B3KR28
    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_001318514.1NP_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)
    AA861717, AC136297, AK090850, AK127123, AL136835, DA227912
    Consensus CDS
    CCDS81532.1
    UniProtKB/Swiss-Prot
    Q9H0E2
    UniProtKB/TrEMBL
    B3KR28
    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_001318515.1NP_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)
    AA861717, AC136297, AK090850, AL136835, DB220293, HY031351
    Consensus CDS
    CCDS81533.1
    UniProtKB/Swiss-Prot
    Q9H0E2
    UniProtKB/TrEMBL
    B3KR28, E9PNS3
    Related
    ENSP00000432778.1, ENST00000527938.5
  4. NM_001318516.1NP_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)
    AA861717, AC136297, AK090850, AK096693, AL136835, HY031351
    Consensus CDS
    CCDS81534.1
    UniProtKB/Swiss-Prot
    Q9H0E2
    UniProtKB/TrEMBL
    B3KR28, 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
    Q9H0E2
    UniProtKB/TrEMBL
    Q6FIE9
    Related
    ENSP00000314733.5, ENST00000317204.10
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    1274368..1309662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017931.1XP_016873420.1  toll-interacting protein isoform X1

RNA

  1. XR_001747910.2 RNA Sequence

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