TOLLIP toll interacting protein [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1274371..1309632, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (1345549..1381261, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (1295601..1330862, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tollip deficiency exaggerates airway type 2 inflammation in mice exposed to allergen and influenza A virus: role of the ATP/IL-33 signaling axis.
Title: Tollip deficiency exaggerates airway type 2 inflammation in mice exposed to allergen and influenza A virus: role of the ATP/IL-33 signaling axis.
Toll-interacting protein may affect doxorubicin resistance in hepatocellular carcinoma cell lines.
Title: Toll-interacting protein may affect doxorubicin resistance in hepatocellular carcinoma cell lines.
TOLLIP Protein Expression Predicts Unfavorable Outcome in Renal Cell Carcinoma.
Title: TOLLIP Protein Expression Predicts Unfavorable Outcome in Renal Cell Carcinoma.
TOLLIP Optimizes Dendritic Cell Maturation to Lipopolysaccharide and Mycobacterium tuberculosis.
Title: TOLLIP Optimizes Dendritic Cell Maturation to Lipopolysaccharide and Mycobacterium tuberculosis.
Somatostatin attenuates intestinal epithelial barrier injury during acute intestinal ischemia-reperfusion through Tollip/Myeloiddifferentiationfactor 88/Nuclear factor kappa-B signaling.
Title: Somatostatin attenuates intestinal epithelial barrier injury during acute intestinal ischemia-reperfusion through Tollip/Myeloiddifferentiationfactor 88/Nuclear factor kappa-B signaling.
Alternative Gene Expression by TOLLIP Variant Is Associated With Lung Function in Chronic Hypersensitivity Pneumonitis.
Title: Alternative Gene Expression by TOLLIP Variant Is Associated With Lung Function in Chronic Hypersensitivity Pneumonitis.
Toll-interacting protein impacts on inflammation, autophagy, and vacuole trafficking in human disease.
Title: Toll-interacting protein impacts on inflammation, autophagy, and vacuole trafficking in human disease.
Association of rs3750920 polymorphism in TOLLIP with clinical characteristics of fibrosing interstitial lung diseases in Japanese.
Title: Association of rs3750920 polymorphism in TOLLIP with clinical characteristics of fibrosing interstitial lung diseases in Japanese.
Toll-interacting protein polymorphisms in viral bronchiolitis outcomes.
Title: Toll-interacting protein polymorphisms in viral bronchiolitis outcomes.
Toll-Interacting Protein in Pulmonary Diseases. Abiding by the Goldilocks Principle.
Title: Toll-Interacting Protein in Pulmonary Diseases. Abiding by the Goldilocks Principle.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-T23430 (e-PCR)
- UniSTS:25347

RH103248 (e-PCR)
- UniSTS:97580

RH48854 (e-PCR)
- UniSTS:11312

TOLLIP_1105 (e-PCR)
- UniSTS:277839

IB1016 (e-PCR)
- UniSTS:47722

RH46115 (e-PCR)
- UniSTS:78960

RH92496 (e-PCR)
- UniSTS:89524

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 more info	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

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Preferred Names: toll-interacting protein

Names: adapter protein

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)

NM_001318512.2 → NP_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

B3KR28, E9PQ25

Related

ENSP00000434494.1, ENST00000530541.1

Conserved Domains (2) summary

cd04016
Location:12 → 122

C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)

cd14363
Location:180 → 220

CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins
NM_001318514.2 → NP_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:1 → 103

C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)

cd14363
Location:161 → 201

CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins
NM_001318515.2 → NP_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
NM_001318516.2 → NP_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:169 → 209

CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins

cl14603
Location:61 → 111

C2; C2 domain
NM_019009.4 → NP_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:52 → 172

C2_Tollip; C2 domain present in Toll-interacting protein (Tollip)

cd14363
Location:230 → 270

CUE_TOLIP; CUE domain found in the C-terminal of toll-interacting protein (Tollip) and similar proteins