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FLASH GENE

Symbol

IL1R1

contributors: mct/npt - updated : 24-06-2010

HGNC name	interleukin 1 receptor, type I
HGNC id	5993

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q12.1      Physical location : 102.770.401 - 102.796.333
Synonym name	antigen CD121A
	interleukin receptor 1
	CD121 antigen-like family member A
Synonym symbol(s)	IL1R, IL1RA, D2S1473, CD121A, IL-1RT1, p80

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	25.93 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced isoforms, one secreted and one cytoplasmic, cotranscripted and intergenically spliced with GALT

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000877 11 - 4909 NP_000868 - 569 - Magrangeas, McMahan (1991) variant 2 - - 3000 isoform 2 - - - Magrangeas (1998) chimeric protein with part of GALT fused with entire IL1R1 protein

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly   stomach       highly Lymphoid/Immune spleen       highly Nervous brain diencephalon hypothalamus   lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cells

System Cell Pubmed Species Stage Rna symbol   digestive

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand binding domain composed of three Ig-like domain,
	a short cytoplasmic domains required for signaling, homolog to Drosophila Toll (TIR domain)

HOMOLOGY

Homologene

FAMILY

IL-1 receptor subfamily

CATEGORY

signaling cytokine , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	transmembrane protein

basic FUNCTION	important mediator involved in many cytokine induced immune and inflammatory responses
	master regulator of inflammation and innate immunity (Brissoni 2006)
	regulating bone growth and mass through its central signaling
	maintained significantly higher expression on activated regulatory T cells as compared to other T cell subsets (Mercer 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming a complex after induction of IL1 and recruitment of IRAK through its association with IL1RAP

INTERACTION

DNA

RNA

small molecule

protein	receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA)
	interacts with the ubiquitin-binding protein TOLLIP (required for sorting of IL1RI at late endosomes) (Brissoni 2006)
	substrate for presenilin-dependent gamma-secretase cleavage (Elzinga 2009)
	FREM1 is its co-receptor, which associates with the signaling receptor complex to enhance recruitment of MyD88 and control Ras-dependent amplification of NF-KB and inflammatory responses (Zhang 2010)
	IL1B, IL1A both bind to the same IL1 receptor (IL1R1) and are potent proinflammatory cytokines
	PIK3AP1 is a critical link between IL1R1 and the metabolic status of activated T cells that ultimately regulates the differentiation of inflammatory Th17 cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to osteoporotic fractures to schizophrenia and bipolar disorder

Variant & Polymorphism repeat	86bp repeat increased risk of osteoporotic fractures
	VNTR allele 2 increasing risk of schizophrenia and bipolar disorder

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     protective effect of IL1R1 antagonist on pancreatic beta-cell survival and function

ANIMAL & CELL MODELS