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

Summary

Official Symbol: IL5RAprovided by HGNC
Official Full Name: interleukin 5 receptor subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:6017
See related: Ensembl:ENSG00000091181 MIM:147851; AllianceGenome:HGNC:6017
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]
Expression: Biased expression in lung (RPKM 1.2), prostate (RPKM 0.7) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p26.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (3066324..3110374, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (3060643..3104729, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (3108008..3152058, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Structure of the interleukin-5 receptor complex exemplifies the organizing principle of common beta cytokine signaling.
Title: Structure of the interleukin-5 receptor complex exemplifies the organizing principle of common beta cytokine signaling.
Epithelial IL5RA promotes epithelial-mesenchymal transition in pulmonary fibrosis via Jak2/STAT3 cascade.
Title: Epithelial IL5RA promotes epithelial-mesenchymal transition in pulmonary fibrosis via Jak2/STAT3 cascade.
The Study of the Influence of IL5RA Variants on Chronic Obstructive Pulmonary Disease.
Title: The Study of the Influence of IL5RA Variants on Chronic Obstructive Pulmonary Disease.
IL5RA as an immunogenic cell death-related predictor in progression and therapeutic response of multiple myeloma.
Title: IL5RA as an immunogenic cell death-related predictor in progression and therapeutic response of multiple myeloma.
Transcriptional Regulation of the Human IL5RA Gene through Alternative Promoter Usage during Eosinophil Development.
Title: Transcriptional Regulation of the Human IL5RA Gene through Alternative Promoter Usage during Eosinophil Development.
MiRNA-495-3p Attenuates TNF-alpha Induced Apoptosis and Inflammation in Human Nucleus Pulposus Cells by Targeting IL5RA.
Title: MiRNA-495-3p Attenuates TNF-α Induced Apoptosis and Inflammation in Human Nucleus Pulposus Cells by Targeting IL5RA.
Treatment Challenges in Severe Eosinophilic Asthma: Differential Response to Anti-IL-5 and Anti-IL-5R Therapy.
Title: Treatment Challenges in Severe Eosinophilic Asthma: Differential Response to Anti-IL-5 and Anti-IL-5R Therapy.
Ceruloplasmin and oxidative stress in severe eosinophilic asthma patients treated with Mepolizumab and Benralizumab.
Title: Ceruloplasmin and oxidative stress in severe eosinophilic asthma patients treated with Mepolizumab and Benralizumab.
IL-5Ralpha marks nasal polyp IgG4- and IgE-expressing cells in aspirin-exacerbated respiratory disease.
Title: IL-5Rα marks nasal polyp IgG4- and IgE-expressing cells in aspirin-exacerbated respiratory disease.
Expression of IL-5 receptor alpha by murine and human lung neutrophils.
Title: Expression of IL-5 receptor alpha by murine and human lung neutrophils.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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
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 EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the age of onset of childhood asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Impact of ancestry and common genetic variants on QT interval in African Americans. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-5 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
involved_in interleukin-5-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of leukocyte proliferation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of interleukin-5 production	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-5 receptor subunit alpha

Names: CD125 antigen; IL-5 receptor subunit alpha; IL-5R subunit alpha; interleukin 5 receptor type 3; interleukin 5 receptor, alpha; 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_000564.5 → NP_000555.2 interleukin-5 receptor subunit alpha isoform 1 precursor

See identical proteins and their annotated locations for NP_000555.2

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/Swiss-Prot

B3IU77, B4E2G0, Q01344, Q14633, Q15469, Q6ISX9

UniProtKB/TrEMBL

Q14631

Related

ENSP00000256452.3, ENST00000256452.7

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001243099.2 → NP_001230028.1 interleukin-5 receptor subunit alpha isoform 4 precursor

See identical proteins and their annotated locations for NP_001230028.1

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

Q14631

Related

ENSP00000390753.1, ENST00000438560.5

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175724.2 → NP_783851.1 interleukin-5 receptor subunit alpha isoform 2 precursor

See identical proteins and their annotated locations for NP_783851.1

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/TrEMBL

Q8NHV7

Related

ENSP00000400400.2, ENST00000430514.6

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175725.3 → NP_783852.1 interleukin-5 receptor subunit alpha isoform 3 precursor

See identical proteins and their annotated locations for NP_783852.1

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/TrEMBL

Q8NHV7

Related

ENSP00000309196.8, ENST00000311981.12

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175726.4 → NP_783853.1 interleukin-5 receptor subunit alpha isoform 1 precursor

See identical proteins and their annotated locations for NP_783853.1

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/Swiss-Prot

B3IU77, B4E2G0, Q01344, Q14633, Q15469, Q6ISX9

UniProtKB/TrEMBL

Q14631

Related

ENSP00000412209.2, ENST00000446632.7

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175727.2 → NP_783854.1 interleukin-5 receptor subunit alpha isoform 2 precursor

See identical proteins and their annotated locations for NP_783854.1

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/TrEMBL

Q8NHV7

Related

ENSP00000392059.1, ENST00000456302.5

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175728.3 → NP_783855.1 interleukin-5 receptor subunit alpha isoform 3 precursor

See identical proteins and their annotated locations for NP_783855.1

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/TrEMBL

Q8NHV7

Related

ENSP00000373358.1, ENST00000383846.5

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

3066324..3110374 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533677.2 → XP_011531979.1 interleukin-5 receptor subunit alpha isoform X1

See identical proteins and their annotated locations for XP_011531979.1

UniProtKB/TrEMBL

Q14631

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_011533678.3 → XP_011531980.1 interleukin-5 receptor subunit alpha isoform X1

See identical proteins and their annotated locations for XP_011531980.1

UniProtKB/TrEMBL

Q14631

Conserved Domains (2) summary

pfam09240
Location:129 → 236

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

cl21522
Location:25 → 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...