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    IL3RA interleukin 3 receptor subunit alpha [ Homo sapiens (human) ]

    Gene ID: 3563, updated on 12-Nov-2024

    Summary

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    Official Symbol
    IL3RAprovided by HGNC
    Official Full Name
    interleukin 3 receptor subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:6012
    See related
    Ensembl:ENSG00000185291 Ensembl:ENSG00000292332 MIM:308385; MIM:430000; AllianceGenome:HGNC:6012
    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; IL-3R-alpha
    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. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in lung (RPKM 8.7), lymph node (RPKM 8.6) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See IL3RA in Genome Data Viewer
    Location:
    X;Y
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (1336785..1382689)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (1336785..1382689)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1187106..1226335)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1201550..1246464)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1455678..1501582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1405678..1451582)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene colony stimulating factor 2 receptor subunit alpha Neighboring gene uncharacterized LOC124905238 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:1510270-1510865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6 Neighboring gene long intergenic non-protein coding RNA 106

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene colony stimulating factor 2 receptor subunit alpha Neighboring gene uncharacterized LOC124905238 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:1510270-1510865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6 Neighboring gene long intergenic non-protein coding RNA 106

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. In vivo and in vitro sensitivity of blastic plasmacytoid dendritic cell neoplasm to SL-401, an interleukin-3 receptor targeted biologic agent. Angelot-Delettre F, et al. Haematologica, 2015 Feb. PMID 25381130, Free PMC Article
    2. Plasmacytoid dendritic cells in keratoacanthoma and squamous cell carcinoma: A blinded study of CD123 as a diagnostic marker. Fraga GR, et al. J Cutan Pathol, 2020 Jan. PMID 31449667
    3. CD123: A Novel Biomarker for Diagnosis and Treatment of Leukemia. Shi M, et al. Cardiovasc Hematol Disord Drug Targets, 2019. PMID 31244444
    4. Impact of CD123 expression, analyzed by immunohistochemistry, on clinical outcomes in patients with acute myeloid leukemia. Arai N, et al. Int J Hematol, 2019 May. PMID 30847774
    5. Selective inhibition of IL-5 receptor alpha-chain gene transcription by IL-5, IL-3, and granulocyte-macrophage colony-stimulating factor in human blood eosinophils. Wang P, et al. J Immunol, 1998 May 1. PMID 9574547

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of IL3RA in a Family with Lumbar Spinal Stenosis.
      Title: Role of IL3RA in a Family with Lumbar Spinal Stenosis.
    2. Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
      Title: Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
    3. Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia.
      Title: Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia.
    4. High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
      Title: High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
    5. Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
      Title: Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
    6. CD123 a Therapeutic Target for Acute Myeloid Leukemia and Blastic Plasmocytoid Dendritic Neoplasm.
      Title: CD123 a Therapeutic Target for Acute Myeloid Leukemia and Blastic Plasmocytoid Dendritic Neoplasm.
    7. Interleukin-3 is associated with sTREM2 and mediates the correlation between amyloid-beta and tau pathology in Alzheimer's disease.
      Title: Interleukin-3 is associated with sTREM2 and mediates the correlation between amyloid-β and tau pathology in Alzheimer's disease.
    8. Expression of CD123 Related Long Non-coding RNA in Acute Myeloid Leukemia Bone Marrow Mononuclear Cells and Its Clinical Significance.
      Title: Expression of CD123 Related Long Non-coding RNA in Acute Myeloid Leukemia Bone Marrow Mononuclear Cells and Its Clinical Significance.
    9. The Expressions of CD30 and CD123 of Mastocytosis in Taiwan.
      Title: The Expressions of CD30 and CD123 of Mastocytosis in Taiwan.
    10. CD123 Expression Is Associated With High-Risk Disease Characteristics in Childhood Acute Myeloid Leukemia: A Report From the Children's Oncology Group.
      Title: CD123 Expression Is Associated With High-Risk Disease Characteristics in Childhood Acute Myeloid Leukemia: A Report From the Children's Oncology Group.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC34174

    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-3 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 cellular response to interleukin-3 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in interleukin-3-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
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane NAS
    Non-traceable Author Statement
    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-3 receptor subunit alpha
    Names
    CD123 antigen
    IL-3 receptor subunit alpha
    IL-3R subunit alpha
    interleukin 3 receptor, alpha (low affinity)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001267713.2 → NP_001254642.1  interleukin-3 receptor subunit alpha isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment in the N-terminal region, compared to isoform 1.
      Source sequence(s)
      AI765858, AK290568, BC035407, FJ550347
      Consensus CDS
      CCDS59158.1
      UniProtKB/Swiss-Prot
      P26951
      Related
      ENSP00000370878.2, ENSP00000518612.1, ENST00000381469.7, ENST00000711217.1
      Conserved Domains (1) summary
      pfam09240
      Location:29 → 127
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    2. NM_002183.4 → NP_002174.1  interleukin-3 receptor subunit alpha isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI765858, AK290568, BC035407
      Consensus CDS
      CCDS14113.1
      UniProtKB/Swiss-Prot
      A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7
      Related
      ENSP00000327890.4, ENSP00000518590.1, ENST00000331035.10, ENST00000711219.1
      Conserved Domains (1) summary
      pfam09240
      Location:107 → 205
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      1336785..1382689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274432.2 → XP_005274489.1  interleukin-3 receptor subunit alpha isoform X4

      Conserved Domains (1) summary
      pfam09240
      Location:107 → 204
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    2. XM_005274431.6 → XP_005274488.1  interleukin-3 receptor subunit alpha isoform X3

      UniProtKB/Swiss-Prot
      A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7
      Conserved Domains (1) summary
      pfam09240
      Location:107 → 205
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    3. XM_017029491.3 → XP_016884980.1  interleukin-3 receptor subunit alpha isoform X4

      Conserved Domains (1) summary
      pfam09240
      Location:107 → 204
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    4. XM_047442090.1 → XP_047298046.1  interleukin-3 receptor subunit alpha isoform X1

    5. XM_047442091.1 → XP_047298047.1  interleukin-3 receptor subunit alpha isoform X2

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      1336785..1382689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274781.2 → XP_005274838.1  interleukin-3 receptor subunit alpha isoform X4

      Conserved Domains (1) summary
      pfam09240
      Location:107 → 204
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    2. XM_005274780.6 → XP_005274837.1  interleukin-3 receptor subunit alpha isoform X3

      UniProtKB/Swiss-Prot
      A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7
      Conserved Domains (1) summary
      pfam09240
      Location:107 → 205
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    3. XM_017030043.3 → XP_016885532.1  interleukin-3 receptor subunit alpha isoform X4

      Conserved Domains (1) summary
      pfam09240
      Location:107 → 204
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    4. XM_047442730.1 → XP_047298686.1  interleukin-3 receptor subunit alpha isoform X1

    5. XM_047442731.1 → XP_047298687.1  interleukin-3 receptor subunit alpha isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      1187106..1226335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327016.1 → XP_054182991.1  interleukin-3 receptor subunit alpha isoform X4

    2. XM_054327015.1 → XP_054182990.1  interleukin-3 receptor subunit alpha isoform X3

      UniProtKB/Swiss-Prot
      A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7

    3. XM_054327017.1 → XP_054182992.1  interleukin-3 receptor subunit alpha isoform X4

    4. XM_054327013.1 → XP_054182988.1  interleukin-3 receptor subunit alpha isoform X1

    5. XM_054327014.1 → XP_054182989.1  interleukin-3 receptor subunit alpha isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      1201550..1246464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328285.1 → XP_054184260.1  interleukin-3 receptor subunit alpha isoform X4

    2. XM_054328284.1 → XP_054184259.1  interleukin-3 receptor subunit alpha isoform X3

    3. XM_054328286.1 → XP_054184261.1  interleukin-3 receptor subunit alpha isoform X4

    4. XM_054328283.1 → XP_054184258.1  interleukin-3 receptor subunit alpha isoform X2

    5. XM_054328282.1 → XP_054184257.1  interleukin-3 receptor subunit alpha isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26951.1 GenPept UniProtKB/Swiss-Prot:P26951

    Gene LinkOut

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