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    IL3RA interleukin 3 receptor, alpha (low affinity) [ Homo sapiens ]

    Gene ID: 3563, updated on 19-May-2012
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    Summary

    Official Symbol
    IL3RAprovided by HGNC
    Official Full Name
    interleukin 3 receptor, alpha (low affinity)provided by HGNC
    Primary source
    HGNC:6012
    Locus tag
    RP11-261P4.2
    See related
    Ensembl:ENSG00000185291; HPRD:02392; HPRD:08951; MIM:308385; MIM:430000; Vega:OTTHUMG00000021059
    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
    IL3R; CD123; IL3RX; IL3RY; IL3RAY; hIL-3Ra; MGC34174
    Summary
    The protein encoded by this gene is an interleukin 3 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 IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    Xp22.3 or Yp11.3
    Sequence :
    Chromosome: Y; NC_000024.9 (1405509..1451582)
    Chromosome: X; NC_000023.10 (1455509..1501582)
    See IL3RA in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene cytokine receptor-like factor 2 Neighboring gene colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) Neighboring gene microRNA 3690 Neighboring gene uncharacterized LOC100293744 Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 Neighboring gene ASMTL antisense RNA 1 (non-protein coding) Neighboring gene acetylserotonin O-methyltransferase-like

    Chromosome Y - NC_000024.9Genomic Context describing neighboring genes Neighboring gene cytokine receptor-like factor 2 Neighboring gene colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) Neighboring gene microRNA 3690 Neighboring gene uncharacterized LOC100293744 Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 Neighboring gene ASMTL antisense RNA 1 (non-protein coding) Neighboring gene acetylserotonin O-methyltransferase-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Hypertrophic lupus erythematosus: the diagnostic utility of CD123 staining. Ko CJ, et al. J Cutan Pathol, 2011 Nov. PMID 21955314.
    2. High levels of CD34+CD38low/-CD123+ blasts are predictive of an adverse outcome in acute myeloid leukemia: a Groupe Ouest-Est des Leucemies Aigues et Maladies du Sang (GOELAMS) study. Vergez F, et al. Haematologica, 2011 Dec. PMID 21933861.
    3. Characteristic CD103 and CD123 expression pattern defines hairy cell leukemia: usefulness of CD123 and CD103 in the diagnosis of mature B-cell lymphoproliferative disorders. Venkataraman G, et al. Am J Clin Pathol, 2011 Oct. PMID 21917686.
    4. Overexpression of IL-3Rα on CD34+CD38- stem cells defines leukemia-initiating cells in Fanconi anemia AML. Du W, et al. Blood, 2011 Apr 21. PMID 21330473.
    5. [Expression change of IL-3 receptor system in all-trans retinoic acid induced differentiation of NB4 cells]. Wu Y, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010 Dec. PMID 21176354.

    See all (53) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. High levels of CD34+CD38low/-CD123+ blasts are predictive of an adverse outcome in acute myeloid leukemia
      Title: High levels of CD34+CD38low/-CD123+ blasts are predictive of an adverse outcome in acute myeloid leukemia: a Groupe Ouest-Est des Leucemies Aigues et Maladies du Sang (GOELAMS) study.
    2. The pattern of CD123 staining can be a useful feature to distinguish hypertrophic lupus erythematosus, squamous cell carcinoma and hypertrophic actinic keratosis.
      Title: Hypertrophic lupus erythematosus: the diagnostic utility of CD123 staining.
    3. These findings support the usefulness of CD123 and CD103 to aid in the differential diagnosis of B-cell lymphoproliferative disorders
      Title: Characteristic CD103 and CD123 expression pattern defines hairy cell leukemia: usefulness of CD123 and CD103 in the diagnosis of mature B-cell lymphoproliferative disorders.
    4. assessment of CD123 expression is useful for supporting the diagnosis of classical Hodgkin lymphoma
      Title: Flow cytometric analysis of CD123 is useful for immunophenotyping classical Hodgkin lymphoma.
    5. Over expression of IL-3Ralpha and truncated mutation of hbetac may be involved in proliferation and differentiation block in NB4 cells.
      Title: [Expression change of IL-3 receptor system in all-trans retinoic acid induced differentiation of NB4 cells].
    6. Interleukin 3 receptor alpha is a cell-surface marker present on leukemia-initiating cells of patients with Fanconi anemia-acute myeloid leukemia, and may be a promising therapeutic target for these patients.
      Title: Overexpression of IL-3Rα on CD34+CD38- stem cells defines leukemia-initiating cells in Fanconi anemia AML.
    7. CD123 was highly expressed in the bone marrow of the patients with myelodysplastic syndrome, significantly correlated with the proportion of bone marrow blasts, and thus might be the marker of MDS malignant clone.
      Title: Expression of CD123 and CD114 on the bone marrow cells of patients with myelodysplastic syndrome.
    8. Expression of dendritic cell markers CD11c/BDCA-1 and CD123/BDCA-2 in coronary artery disease upon activation in whole blood.
      Title: Expression of dendritic cell markers CD11c/BDCA-1 and CD123/BDCA-2 in coronary artery disease upon activation in whole blood.
    9. Data show high expression of CD86 and CD11C, moderate expression of CD1a and CD123, low levels of CD83 on dendritic cells after induction by GM-CSF and IL-4.
      Title: [The biological characteristics of peripheral blood CD123+ myeloid dendritic cell].
    10. overexpression of CD123 is an aberrant phenotype present in a subset of precursor-B ALL with hyperdiploid genotype
      Title: Overexpression of CD123 correlates with the hyperdiploid genotype in acute lymphoblastic leukemia.
    Submit: New GeneRIF Correction See all (27)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P26951 Q9NSE2 CISH    HPRD  PubMed  
    P26951 P04141 CSF2    HPRD  PubMed  
    P26951 P32927 CSF2RB    HPRD  PubMed  
    P26951 P08700 IL3    HPRD  PubMed  
    P26951 P23458 JAK1    HPRD  PubMed  
    P26951 O60674 JAK2    HPRD  PubMed  
    BioGRID:109778 BioGRID:107574 CISH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109778 BioGRID:109777 IL3    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • 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-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
    • 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...
    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interleukin-3 receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cellular response to interleukin-3 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    interleukin-3 receptor subunit alpha
    Names
    interleukin-3 receptor subunit alpha
    IL-3RA
    IL-3R-alpha
    CD123 antigen
    IL-3R subunit alpha
    IL-3 receptor subunit alpha
    IL-3 receptor alpha SP2 isoform
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    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_002183.2 → NP_002174.1  interleukin-3 receptor subunit alpha precursor

      Status: REVIEWED

      Source sequence(s)
      AW452270, BC035407
      Consensus CDS
      CCDS14113.1
      UniProtKB/Swiss-Prot
      P26951
      Related
      ENSP00000327890, OTTHUMP00000022828, ENST00000331035, OTTHUMT00000055600
      Conserved Domains (1) summary
      cl12153
      Location:106 – 205
      Blast Score: 292
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      1455509..1501582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001841157.1 Alternate HuRef

      Range
      552013..593197, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL683870.15 CAI39845.2
    genomic AY789109.1 AAV40832.1
    genomic BX119906.16 CAI41506.2
    genomic BX296563.3 CAI39694.1
      CAI39695.1
    genomic BX296563.3 CAI39694.1
      CAI39695.1
    genomic BX901885.7 (24734..34514) None
    genomic CH471074.1 EAW98679.1
    genomic D49410.2 BAA08393.1
    mRNA AK290568.1 BAF83257.1
    mRNA AW452270.1 None
    mRNA BC035407.1 AAH35407.1
    mRNA FJ550347.1 ACM24116.1
    mRNA M74782.1 AAA59148.1
    other-genetic EU176623.1 ABW03424.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26951.1 GenPept UniProtKB/Swiss-Prot:P26951
    Q5HYQ8 GenPept UniProtKB/TrEMBL:Q5HYQ8
    Q9UEH7 GenPept UniProtKB/TrEMBL:Q9UEH7
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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