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

Gene ID: 3563, updated on 5-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 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. CD123 immunostaining patterns in systemic mastocytosis: differential expression in disease subgroups and potential prognostic value. Pardanani A, et al. Leukemia, 2016 Apr. PMID 26678095
  2. Prognostic relevance of CD123 expression in adult AML with normal karyotype. Jiang G, et al. Br J Haematol, 2020 Jan. PMID 31758553
  3. 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
  4. Interleukin-3 receptor in acute leukemia. Testa U, et al. Leukemia, 2004 Feb. PMID 14671644
  5. CD123: A Novel Biomarker for Diagnosis and Treatment of Leukemia. Shi M, et al. Cardiovasc Hematol Disord Drug Targets, 2019. PMID 31244444

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)

Genotypes

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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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

    See identical proteins and their annotated locations for NP_001254642.1

    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

    See identical proteins and their annotated locations for NP_002174.1

    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

    See identical proteins and their annotated locations for XP_005274489.1

    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

    See identical proteins and their annotated locations for XP_005274488.1

    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

    See identical proteins and their annotated locations for XP_005274838.1

    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

    See identical proteins and their annotated locations for XP_005274837.1

    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

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