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

    Gene ID: 3568, updated on 13-May-2022

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL5RA in Genome Data Viewer
    Location:
    3p26.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (3066324..3110374, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (3060643..3104711, complement)
    105.20220307 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 uncharacterized LOC124909339 Neighboring gene tRNA nucleotidyl transferase 1 Neighboring gene cereblon

    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

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

    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)

    NEW Try the new Transcript table

    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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      3066324..3110374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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 ...
    2. XM_011533678.3XP_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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      3060643..3104711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)