IL5RA interleukin 5 receptor, alpha [Homo sapiens (human)] - Gene

Summary

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Official Symbol: IL5RAprovided by HGNC
Official Full Name: interleukin 5 receptor, alphaprovided by HGNC
Primary source: HGNC:6017
See related: Ensembl:ENSG00000091181; HPRD:00998; MIM:147851; Vega:OTTHUMG00000090245
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: IL5R; CD125; CDw125; HSIL5R3
Summary: The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]

Genomic context

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Location :: 3p26-p24

Sequence :: Chromosome: 3; NC_000003.11 (3108008..3152058, complement)

See IL5RA in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The study reports the crystal structure of dimeric IL-5 in complex with the IL5RA extracellular domains.
Title: Structural basis of interleukin-5 dimer recognition by its α receptor.
REVIEW: Interleukin-5 and IL-5 receptor in health and disease
Title: Interleukin-5 and IL-5 receptor in health and diseases.
we determined the structure of IL-5 bound to the extracellular domain of IL-5Ralpha.
Title: Structure analysis of the IL-5 ligand-receptor complex reveals a wrench-like architecture for IL-5Rα.
IL-5Ralpha expression on eosinophils inversely correlated with eosinophilia and was significantly elevated in patients with systemic mastocytosis without eosinophilia
Title: IL-5 receptor α levels in patients with marked eosinophilia or mastocytosis.
Study of engineered deglycosylated IL-5 receptor alpha variant proves that unique carbohydrate groups in multiglycosylated receptors can be utilized asymmetrically for function.
Title: A protein engineering approach differentiates the functional importance of carbohydrate moieties of interleukin-5 receptor α.
Polymorphisms in IL5RA, LPL, ITGA2 and NOS3 genes were independently associated with ischemic stroke in Chinese diabetic population.
Title: Predictive role of polymorphisms in interleukin-5 receptor alpha-subunit, lipoprotein lipase, integrin A2 and nitric oxide synthase genes on ischemic stroke in type 2 diabetes--an 8-year prospective cohort analysis of 1327 Chinese patients.
Increased serum level precedes the development of eczema in children
Title: Increased serum-soluble interleukin-5 receptor alpha level precedes the development of eczema in children.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Syntenin forms complexes with multiple IL-5Ralpha chains
Title: Regulation of myelopoiesis through syntenin-mediated modulation of IL-5 receptor output.
The expression of SOL-IL-5Ralpha and TM-IL-5Ralpha differs according to the eosinophil activation state and localization in the body (blood vs tissue) and may therefore be involved in the fine-tuning of the eosinophil homeostasis.
Title: Differential expression of the interleukin 5 receptor alpha isoforms in blood and tissue eosinophils of nasal polyp patients.

Submit: New GeneRIF Correction See all (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu

Genome-wide association study of antibody response to smallpox vaccine.

Genome-wide association study of the age of onset of childhood asthma.

Impact of ancestry and common genetic variants on QT interval in African Americans.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q01344	P32927	CSF2RB	HPRD	PubMed
Q01344	P05113	IL5	HPRD	PubMed
Q01344	P23458	JAK1	HPRD	PubMed
Q01344	O60674	JAK2	HPRD	PubMed
Q01344	O00560	SDCBP	HPRD	PubMed
Q01344	Q13432	UNC119	HPRD	PubMed
BioGRID:109782	BioGRID:107826	CSF2RB	BioGRID	PubMed	Affinity Capture-Western
	NP_000870.1	IL5	BIND	PubMed	IL5R-alpha interacts with IL5.
BioGRID:109782	BioGRID:109781	IL5	BioGRID	PubMed	Co-fractionation; Reconstituted Complex
BioGRID:109782	BioGRID:109919	JAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109782	BioGRID:109920	JAK2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109782	BioGRID:112287	SDCBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109782	BioGRID:114548	UNC119	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Pathways from BioSystems

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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...
Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
IL-5 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-5 Signaling Pathway, organism-specific biosystemInterleukin-5 belongs to the family of cytokines, which includes IL-3 and GM-CSF. It signals through a receptor complex comprising of an IL-5 receptor alpha subunit (IL5RA), and a common beta chain w...
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...
Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
Inflammatory Response Pathway, organism-specific biosystem
Inflammatory Response Pathway
Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
Jak-STAT signaling pathway, conserved biosystem (from KEGG)
Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
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...

General gene information

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Markers

D3S4538 (e-PCR)
- UniSTS:46878

SHGC-11976 (e-PCR)
- UniSTS:28234

D3S4170 (e-PCR)
- UniSTS:33904

IL5RA_1995 (e-PCR)
- UniSTS:280785

Homology

Homologs of the IL5RA gene: The IL5RA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
interleukin-5 receptor activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell proliferation	TAS Traceable Author Statement more info	PubMed
inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
interleukin-5-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of interleukin-5 production	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extracellular space	TAS Traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interleukin-5 receptor subunit alpha

Names: interleukin-5 receptor subunit alpha; CD125 antigen; IL-5R subunit alpha; IL-5 receptor subunit alpha; interleukin 5 receptor type 3; interleukin-5 receptor alpha chain

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.

Genomic

NG_029547.1 RefSeqGene

Range

5001..49051

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000564.4 → NP_000555.2 interleukin-5 receptor subunit alpha isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform (1).

Source sequence(s)

AC022002, AC024060, AK304256, BX118481, DB222974, M96652, X61176

Consensus CDS

CCDS2559.1

UniProtKB/TrEMBL

B4E2G0

UniProtKB/Swiss-Prot

Q01344

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 279

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001243099.1 → NP_001230028.1 interleukin-5 receptor subunit alpha isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC022002, AC024060, AK304256, BX118481

Consensus CDS

CCDS58813.1

UniProtKB/TrEMBL

B4E2G0

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 279

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_175724.2 → NP_783851.1 interleukin-5 receptor subunit alpha isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' end region, which leads to a translation frameshift, when compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AC024060, BI520196, DB229011, M96651, X62156

Consensus CDS

CCDS46739.1

UniProtKB/Swiss-Prot

Q01344

Related

ENSP00000400400, OTTHUMP00000206894, ENST00000430514, OTTHUMT00000337538

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 277

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_175725.2 → NP_783852.1 interleukin-5 receptor subunit alpha isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' end region, which leads to a translation frameshift, when compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AC024060, BI520196, DB229011, M75914, X62156

Consensus CDS

CCDS2560.1

UniProtKB/Swiss-Prot

Q01344

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 277

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_175726.3 → NP_783853.1 interleukin-5 receptor subunit alpha isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal segment within the 5' UTR, as compared to variant 1. Variants 1 and 4 encode the same isoform (1).

Source sequence(s)

AC022002, AK304256, BX118481, DB222974, M96652, X61176

Consensus CDS

CCDS2559.1

UniProtKB/TrEMBL

B4E2G0

UniProtKB/Swiss-Prot

Q01344

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 279

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_175727.2 → NP_783854.1 interleukin-5 receptor subunit alpha isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an internal segment within the 5' UTR, and differs in the 3' end region, when compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

BI520196, DB229011, M96651, X62156

Consensus CDS

CCDS46739.1

UniProtKB/Swiss-Prot

Q01344

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 277

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_175728.2 → NP_783855.1 interleukin-5 receptor subunit alpha isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an internal segment within the 5' UTR, and differs in the 3' end region, when compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

BC027599, BI520196, DB229011, M75914, X62156

Consensus CDS

CCDS2560.1

UniProtKB/Swiss-Prot

Q01344

UniProtKB/TrEMBL

Q8NHV7

Related

ENSP00000373358, OTTHUMP00000115373, ENST00000383846, OTTHUMT00000206686

Conserved Domains (1) summary

pfam09240
Location:128 – 236
Blast Score: 277

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p10 Primary Assembly

Range

3108008..3152058, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

3042189..3086251, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018914.1 Alternate CHM1_1.0

Range

3044133..3088145, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A24587.1	CAA01731.1
genomic	A26249.1	CAA01793.1
genomic	A26251.1	CAA01794.1
genomic	ABBA01020486.1 (3615..47677)	None
genomic	AC022002.5 (155071..189094)	None
genomic	AC024060.6 (147502..157257)	None
genomic	AMYH01012945.1 (149457..193469)	None
genomic	AY642135.1	AAT45457.1
genomic	CH471055.1	EAW63879.1
		EAW63880.1
		EAW63881.1
		EAW63882.1
		EAW63883.1
		EAW63884.1
genomic	U18373.1	None
mRNA	AB288089.1	BAG49561.1
mRNA	AB288090.1	BAG49562.1
mRNA	AK304256.1	BAG65122.1
mRNA	BC027599.2	AAH27599.1
mRNA	BI520196.1	None
mRNA	BX118481.1	None
mRNA	DB222974.1	None
mRNA	DB229011.1	None
mRNA	M75914.1	AAA36110.1
mRNA	M96651.1	AAA59151.1
mRNA	M96652.1	AAA59152.1
mRNA	X61176.1	CAA43483.1
mRNA	X61178.1	CAA43485.1
mRNA	X62156.1	CAA44081.1