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IL3 (interleukin-3)

Written1999-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) IL3
LocusID (NCBI) 3562
Atlas_Id 60
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 131396347 and ends at 131398896 bp from pter ( according to hg19-Feb_2009)  [Mapping IL3.png]
Fusion genes
(updated 2016)
IGH (14q32.33) / IL3 (5q31.1)IGHG1 (14q32.33) / IL3 (5q31.1)IL3 (5q31.1) / IGH (14q32.33)
Ig () / IL3 (5q31.1)

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

Note
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
  

Bibliography

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
 
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
 
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
 
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
 
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
 
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
 

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


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  Juvenile Chronic Myelogenous Leukemia (JCML)
Myelofibrosis with Myeloid Metaplasia (MMM);Idiopathic myelofibrosis;Agnogenic myeloid metaplasia
Polycythemia Vera (PV)
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
t(5;14)(q31;q32) IGH/IL3

External links

Nomenclature
HGNC (Hugo)IL3   6011
Cards
AtlasIL3ID60
Entrez_Gene (NCBI)IL3  3562  interleukin 3
AliasesIL-3; MCGF; MULTI-CSF
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 +  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IL3  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblIL3 - 5q31.1 [CytoView hg19]  IL3 - 5q31.1 [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 GalleryENSG00000164399
Gene ExpressionIL3 [ NCBI-GEO ]   IL3 [ EBI - ARRAY_EXPRESS ]   IL3 [ SEEK ]   IL3 [ MEM ]
Gene Expression Viewer (FireBrowse)IL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3562
GTEX Portal (Tissue expression)IL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08700 (Uniprot)
NextProtP08700  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08700
Splice isoforms : SwissVarP08700 (Swissvar)
PhosPhoSitePlusP08700
Domains : Interpro (EBI)4_helix_cytokine-like_core    4_helix_cytokine_core    IL-3   
Domain families : Pfam (Sanger)IL3 (PF02059)   
Domain families : Pfam (NCBI)pfam02059   
DMDM Disease mutations3562
Blocks (Seattle)IL3
PDB (SRS)1JLI   
PDB (PDBSum)1JLI   
PDB (IMB)1JLI   
PDB (RSDB)1JLI   
Structural Biology KnowledgeBase1JLI   
SCOP (Structural Classification of Proteins)1JLI   
CATH (Classification of proteins structures)1JLI   
SuperfamilyP08700
Human Protein AtlasENSG00000164399
Peptide AtlasP08700
HPRD00987
IPIIPI00030336   
Protein Interaction databases
DIP (DOE-UCLA)P08700
IntAct (EBI)P08700
FunCoupENSG00000164399
BioGRIDIL3
STRING (EMBL)IL3
ZODIACIL3
Ontologies - Pathways
QuickGOP08700
Ontology : AmiGOMAPK cascade  positive regulation of myeloid leukocyte differentiation  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  cytokine activity  interleukin-3 receptor binding  extracellular region  extracellular space  extracellular space  intracellular  immune response  cell-cell signaling  nervous system development  growth factor activity  positive regulation of cell proliferation  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  embryonic hemopoiesis  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of GTPase activity  positive regulation of DNA replication  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of mast cell proliferation  
Ontology : EGO-EBIMAPK cascade  positive regulation of myeloid leukocyte differentiation  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  cytokine activity  interleukin-3 receptor binding  extracellular region  extracellular space  extracellular space  intracellular  immune response  cell-cell signaling  nervous system development  growth factor activity  positive regulation of cell proliferation  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  embryonic hemopoiesis  positive regulation of tyrosine phosphorylation of Stat5 protein  positive regulation of GTPase activity  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 PathwaysR-HSA-912526 Interleukin receptor SHC signaling [pathway]
REACTOME PathwaysR-HSA-392451 G beta:gamma signalling through PI3Kgamma [pathway]
REACTOME PathwaysR-HSA-5673001 RAF/MAP kinase cascade [pathway]
REACTOME PathwaysR-HSA-912526 Interleukin receptor SHC signaling [pathway]
REACTOME PathwaysR-HSA-114604 GPVI-mediated activation cascade [pathway]
REACTOME PathwaysR-HSA-512988 Interleukin-3, 5 and GM-CSF signaling [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkIL3
Wikipedia pathwaysIL3
Orthology - Evolution
OrthoDB3562
GeneTree (enSembl)ENSG00000164399
Phylogenetic Trees/Animal Genes : TreeFamIL3
Homologs : HomoloGeneIL3
Homology/Alignments : Family Browser (UCSC)IL3
Gene fusions - Rearrangements
Fusion : MitelmanIGH/IL3 [14q32.33/5q31.1]  [t(5;14)(q31;q32)]  
Fusion : TICdbIg [IL3]  -  5q31.1 []
Polymorphisms : SNP, variants
NCBI Variation ViewerIL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL3
dbVarIL3
ClinVarIL3
1000_GenomesIL3 
Exome Variant ServerIL3
ExAC (Exome Aggregation Consortium)IL3 (select the gene name)
Genetic variants : HAPMAP3562
Genomic Variants (DGV)IL3 [DGVbeta]
Mutations
ICGC Data PortalIL3 
TCGA Data PortalIL3 
Broad Tumor PortalIL3
OASIS PortalIL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IL3
DgiDB (Drug Gene Interaction Database)IL3
DoCM (Curated mutations)IL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL3 (select a term)
intoGenIL3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131396347-131398896  ENSG00000164399
CONAN: Copy Number AnalysisIL3 
Mutations and Diseases : HGMDIL3
OMIM147740   
MedgenIL3
Genetic Testing Registry IL3
NextProtP08700 [Medical]
TSGene3562
GENETestsIL3
Huge Navigator IL3 [HugePedia]
snp3D : Map Gene to Disease3562
BioCentury BCIQIL3
ClinGenIL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3562
Chemical/Pharm GKB GenePA29830
Clinical trialIL3
Miscellaneous
canSAR (ICR)IL3 (select the gene name)
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL3
EVEXIL3
GoPubMedIL3
iHOPIL3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Aug 10 18:51:03 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.