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

Gene ID: 3568, updated on 19-Jul-2021

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
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
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Genomic context

See IL5RA in Genome Data Viewer
Location:
3p26.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (3066324..3110414, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (3108008..3152058, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene contactin 4 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 4 Neighboring gene CNTN4 antisense RNA 1 Neighboring gene tRNA nucleotidyl transferase 1 Neighboring gene cereblon Neighboring gene uncharacterized LOC100130207 Neighboring gene leucine rich repeat neuronal 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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
GeneReviews: Not available
Genome-wide association study of antibody response to smallpox vaccine.
GeneReviews: Not available
Genome-wide association study of the age of onset of childhood asthma.
GeneReviews: Not available
Impact of ancestry and common genetic variants on QT interval in African Americans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26560

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables interleukin-5 receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

  1. NG_029547.1 RefSeqGene

    Range
    5001..49051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000564.5NP_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
    Q01344
    UniProtKB/TrEMBL
    A0A024R2C8
    Related
    ENSP00000256452.3, ENST00000256452.7
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  2. NM_001243099.2NP_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/Swiss-Prot
    Q01344
    Related
    ENSP00000390753.1, ENST00000438560.5
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  3. NM_175724.2NP_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/Swiss-Prot
    Q01344
    Related
    ENSP00000400400.2, ENST00000430514.6
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  4. NM_175725.3NP_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/Swiss-Prot
    Q01344
    Related
    ENSP00000309196.8, ENST00000311981.12
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  5. NM_175726.4NP_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
    Q01344
    UniProtKB/TrEMBL
    A0A024R2C8
    Related
    ENSP00000412209.2, ENST00000446632.7
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  6. NM_175727.2NP_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/Swiss-Prot
    Q01344
    Related
    ENSP00000392059.1, ENST00000456302.5
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  7. NM_175728.3NP_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/Swiss-Prot
    Q01344
    UniProtKB/TrEMBL
    Q8NHV7
    Related
    ENSP00000373358.1, ENST00000383846.5
    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    3066324..3110414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533678.2XP_011531980.1  interleukin-5 receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011531980.1

    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
  2. XM_011533677.2XP_011531979.1  interleukin-5 receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_011531979.1

    Conserved Domains (2) summary
    pfam09240
    Location:129236
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
    cl21522
    Location:25107
    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 ...
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