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IL3 (interleukin-3)

Identity

HGNC (Hugo) IL3
LocusID (NCBI) 3562
Atlas_Id 60
Location 5q31.1
Location_base_pair Starts at 131396347 and ends at 131398896 bp from pter ( according to hg19-Feb_2009)  [Mapping]
DNA/RNA

Description 5 exons
Transcription 674 bp transcript with a 458 bp of coding sequence

Protein

Description 152 amino acids; 17 kDa
Expression IL3 is produced by activated T cells, monocytes/macrophages and stroma cells
Function cytokine; multipotent hematopoietic growth factor; induces proliferation, maturation and probably self-renewal of pluripotent hematopoietic stem cells and cells of myeloid, erythroid and megakaryocytic lineages; IL-3 plays a more specialized role on basophil and mast cells; role through activation of the IL-3 receptor (IL-3R) complex consisting of alpha and beta subunits, which in turn induces activation of JAK2/ STAT5 , and induction of c-myc (cell-cycle progression and DNA synthesis), and activation of the Ras pathway (suppression of apoptosis); IL3 and GM-CSF have overlapping but distinct biological properties

Implicated in

Entity t(5;14)(q31;q32)
Disease B-cell acute lymphoblastic leukemia (ALL) with hypereosinophilia
Prognosis poor
Cytogenetics t(5;14) may be the sole anomaly or accompanied with other anomalies
Hybrid/Mutated Gene break in the promoter region of IL3 and in the Jh region of IgH
Abnormal Protein the immunoglobulin gene promoter controls the expression of IL3
Oncogenesis over-expression of IL3
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030

External links

Nomenclature
HGNC (Hugo)IL3   6011
Cards
AtlasIL3ID60
Entrez_Gene (NCBI)IL3  3562  interleukin 3
GeneCards (Weizmann)IL3
Ensembl hg19 (Hinxton)ENSG00000164399 [Gene_View]  chr5:131396347-131398896 [Contig_View]  IL3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164399 [Gene_View]  chr5:131396347-131398896 [Contig_View]  IL3 [Vega]
ICGC DataPortalENSG00000164399
TCGA cBioPortalIL3
AceView (NCBI)IL3
Genatlas (Paris)IL3
WikiGenes3562
SOURCE (Princeton)IL3
Genomic and cartography
GoldenPath hg19 (UCSC)IL3  -     chr5:131396347-131398896 +  5q23-q31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IL3  -     5q23-q31   [Description]    (hg38-Dec_2013)
EnsemblIL3 - 5q23-q31 [CytoView hg19]  IL3 - 5q23-q31 [CytoView hg38]
Mapping of homologs : NCBIIL3 [Mapview hg19]  IL3 [Mapview hg38]
OMIM147740   
Gene and transcription
Genbank (Entrez)BC066272 BC066273 BC066274 BC066275 BC066276
RefSeq transcript (Entrez)NM_000588
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)IL3
Cluster EST : UnigeneHs.694 [ NCBI ]
CGAP (NCI)Hs.694
Alternative Splicing : Fast-db (Paris)GSHG0024217
Alternative Splicing GalleryENSG00000164399
Gene ExpressionIL3 [ NCBI-GEO ]     IL3 [ SEEK ]   IL3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08700 (Uniprot)
NextProtP08700  [Medical]
With graphics : InterProP08700
Splice isoforms : SwissVarP08700 (Swissvar)
Domains : Interpro (EBI)4_helix_cytokine-like_core    4_helix_cytokine_core    IL-3   
Related proteins : CluSTrP08700
Domain families : Pfam (Sanger)IL3 (PF02059)   
Domain families : Pfam (NCBI)pfam02059   
DMDM Disease mutations3562
Blocks (Seattle)P08700
PDB (SRS)1JLI   
PDB (PDBSum)1JLI   
PDB (IMB)1JLI   
PDB (RSDB)1JLI   
Human Protein AtlasENSG00000164399
Peptide AtlasP08700
HPRD00987
IPIIPI00030336   
Protein Interaction databases
DIP (DOE-UCLA)P08700
IntAct (EBI)P08700
FunCoupENSG00000164399
BioGRIDIL3
IntegromeDBIL3
STRING (EMBL)IL3
Ontologies - Pathways
QuickGOP08700
Ontology : AmiGOpositive regulation of myeloid leukocyte differentiation  cytokine activity  interleukin-3 receptor binding  interleukin-3 receptor binding  extracellular region  extracellular space  extracellular space  immune response  cell-cell signaling  nervous system development  growth factor activity  positive regulation of cell proliferation  cytokine-mediated signaling pathway  embryonic hemopoiesis  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of DNA replication  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of mast cell proliferation  
Ontology : EGO-EBIpositive regulation of myeloid leukocyte differentiation  cytokine activity  interleukin-3 receptor binding  interleukin-3 receptor binding  extracellular region  extracellular space  extracellular space  immune response  cell-cell signaling  nervous system development  growth factor activity  positive regulation of cell proliferation  cytokine-mediated signaling pathway  embryonic hemopoiesis  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of DNA replication  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of mast cell proliferation  
Pathways : BIOCARTAErythrocyte Differentiation Pathway [Genes]    Regulation of BAD phosphorylation [Genes]    Cytokine Network [Genes]    The Role of Eosinophils in the Chemokine Network of Allergy [Genes]    Cytokines and Inflammatory Response [Genes]    Regulation of hematopoiesis by cytokines [Genes]    IL 17 Signaling Pathway [Genes]    IL 3 signaling pathway [Genes]    Dendritic cells in regulating TH1 and TH2 Development [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    PI3K-Akt signaling pathway    Apoptosis    Jak-STAT signaling pathway    Hematopoietic cell lineage    Fc epsilon RI signaling pathway    Transcriptional misregulation in cancer    Asthma   
REACTOMEP08700 [protein]
REACTOME PathwaysREACT_6900 Immune System [pathway]
Protein Interaction DatabaseIL3
DoCM (Curated mutations)IL3
Wikipedia pathwaysIL3
Gene fusion - Rearrangements
Gene fusion: TCGA
Rearrangement : TICdb- [-]  -  IL3 [2q33.2]
Polymorphisms : SNP, variants
NCBI Variation ViewerIL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL3
dbVarIL3
ClinVarIL3
1000_GenomesIL3 
Exome Variant ServerIL3
SNP (GeneSNP Utah)IL3
SNP : HGBaseIL3
Genetic variants : HAPMAPIL3
Genomic Variants (DGV)IL3 [DGVbeta]
Mutations
ICGC Data PortalIL3 
TCGA Data PortalIL3 
Tumor PortalIL3
Somatic Mutations in Cancer : COSMICIL3 
LOVD (Leiden Open Variation Database)genes/IL3
LOVD (Leiden Open Variation Database)genes/IL3
LOVD (Leiden Open Variation Database)genes/IL3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131396347-131398896
CONAN: Copy Number AnalysisIL3 
Mutations and Diseases : HGMDIL3
OMIM147740   
MedgenIL3
NextProtP08700 [Medical]
GENETestsIL3
Disease Genetic AssociationIL3
Huge Navigator IL3 [HugePedia]  IL3 [HugeCancerGEM]
snp3D : Map Gene to Disease3562
DGIdb (Drug Gene Interaction db)IL3
BioCentury BCIQIL3
General knowledge
Homologs : HomoloGeneIL3
Homology/Alignments : Family Browser (UCSC)IL3
Phylogenetic Trees/Animal Genes : TreeFamIL3
Chemical/Protein Interactions : CTD3562
Chemical/Pharm GKB GenePA29830
Clinical trialIL3
Cancer Resource (Charite)ENSG00000164399
Other databases
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
CoreMineIL3
GoPubMedIL3
iHOPIL3

Bibliography

Human IL-3 (multi-CSF): identification by expression cloning of a novel hematopoietic growth factor related to murine IL-3.
Yang YC, Ciarletta AB, Temple PA, Chung MP, Kovacic S, Witek-Giannotti JS, Leary AC, Kriz R, Donahue RE, Wong GG
Cell. 1986 ; 47 (1) : 3-10.
PMID 3489530
 
The t(5;14) chromosomal translocation in a case of acute lymphocytic leukemia joins the interleukin-3 gene to the immunoglobulin heavy chain gene.
Grimaldi JC, Meeker TC
Blood. 1989 ; 73 (8) : 2081-2085.
PMID 2499362
 
Regulation of granulocyte-macrophage colony-stimulating factor and interleukin 3 expression.
Nimer SD, Uchida H
Stem cells (Dayton, Ohio). 1995 ; 13 (4) : 324-335.
PMID 7549890
 
Function and signal transduction mediated by the interleukin 3 receptor system in hematopoiesis.
Hara T, Miyajima A
Stem cells (Dayton, Ohio). 1996 ; 14 (6) : 605-618.
PMID 8948019
 
The physiologic role of interleukin-3, interleukin-5, granulocyte-macrophage colony-stimulating factor, and the beta c receptor system.
Burdach S, Nishinakamura R, Dirksen U, Murray R
Current opinion in hematology. 1998 ; 5 (3) : 177-180.
PMID 9664156
 
Interleukin-3 in hematology and oncology: current state of knowledge and future directions.
Mangi MH, Newland AC
Cytokines, cellular & molecular therapy. 1999 ; 5 (2) : 87-95.
PMID 10515681
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-1999Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
IL3 (interleukin-3)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):183-184.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/IL3ID60.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue May 26 20:17:47 CEST 2015

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