TOLLIP (toll interacting protein)

2016-04-01 Affiliation

Identity

HGNC

TOLLIP

LOCATION

11p15.5

LOCUSID

54472

ALIAS

IL-1RAcPIP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 54472
MIM: 606277
HGNC: 16476
Ensembl: ENSG00000078902

Variants:

dbSNP: 54472
ClinVar: 54472
TCGA: ENSG00000078902
COSMIC: TOLLIP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000078902	ENST00000263646	E7EN89
ENSG00000078902	ENST00000317204	Q9H0E2
ENSG00000078902	ENST00000317204	Q6FIE9
ENSG00000078902	ENST00000525159	F2Z2Y8
ENSG00000078902	ENST00000527886	Q9H0E2
ENSG00000078902	ENST00000527938	E9PNS3
ENSG00000078902	ENST00000530506	E9PP67
ENSG00000078902	ENST00000530541	E9PQ25

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Toll-like receptor signaling pathway	KEGG	ko04620
Toll-like receptor signaling pathway	KEGG	hsa04620
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-1 signaling	REACTOME	R-HSA-446652
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA445468	Pulmonary Fibrosis	Disease	ClinicalAnnotation	associated		PD
PA448033	acetylcysteine	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
11751856	2002	Negative regulation of toll-like receptor-mediated signaling by Tollip.	152
25042851	2014	Autophagic clearance of polyQ proteins mediated by ubiquitin-Atg8 adaptors of the conserved CUET protein family.	108
11441107	2001	Cooperation of Toll-like receptor 2 and 6 for cellular activation by soluble tuberculosis factor and Borrelia burgdorferi outer surface protein A lipoprotein: role of Toll-interacting protein and IL-1 receptor signaling molecules in Toll-like receptor 2 signaling.	100
26331942	2015	TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis.	49
15047686	2004	Tollip and Tom1 form a complex and recruit ubiquitin-conjugated proteins onto early endosomes.	47
22778396	2012	Human TOLLIP regulates TLR2 and TLR4 signaling and its polymorphisms are associated with susceptibility to tuberculosis.	46
17113392	2006	Intracellular trafficking of interleukin-1 receptor I requires Tollip.	39
14563850	2003	Tom1, a VHS domain-containing protein, interacts with tollip, ubiquitin, and clathrin.	37
25275363	2015	The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestries.	28
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27

Citation

Dessen P

TOLLIP (toll interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55714/tollip-(toll-interacting-protein)