Human Gene IL3 (uc003kwe.1)
  Description: Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.
RefSeq Summary (NM_000588): The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr5:131,396,347-131,398,896 Size: 2,550 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr5:131,396,400-131,398,484 Size: 2,085 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:131,396,347-131,398,896)mRNA (may differ from genome)Protein (152 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IL3_HUMAN
DESCRIPTION: RecName: Full=Interleukin-3; Short=IL-3; AltName: Full=Hematopoietic growth factor; AltName: Full=Mast cell growth factor; Short=MCGF; AltName: Full=Multipotential colony-stimulating factor; AltName: Full=P-cell-stimulating factor; Flags: Precursor;
FUNCTION: Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.
FUNCTION: This CSF induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes.
SUBUNIT: Monomer.
INTERACTION: P32927:CSF2RB; NbExp=1; IntAct=EBI-1811718, EBI-1809771;
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Activated T-cells, mast cells, natural killer cells.
SIMILARITY: Belongs to the IL-3 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/IL3ID60.html";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il3/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL3
CDC HuGE Published Literature: IL3
Positive Disease Associations: asthma; atopy , Crohn Disease , rheumatoid arthritis
Related Studies:
  1. asthma; atopy
    Park, B. L. et al. 2004, Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy., Journal of human genetics. 2004 ;49(10):517-27. [PubMed 15372320]
    This information about the genetic association of important genes with asthma might provide valuable insights into strategies for the pathogenesis of asthma and atopy.
  2. Crohn Disease
    Eimear E Kenny et al. PLoS genetics 2012, A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci., PLoS genetics. [PubMed 22412388]
  3. rheumatoid arthritis
    Yamada R et al. 2001, Association between a single-nucleotide polymorphism in the promoter of the human interleukin-3 gene and rheumatoid arthritis in Japanese patients and maximum-likelihood estimation of combinatorial effect that two genetic loci have on susceptibility to t, American journal of human genetics. 2001 Mar;68(3):674-85. [PubMed 11179015]
    Comparison of cases of RA versus control individuals yielded a chi(2) value of 14.28 (P=.0002), with a genotype odds ratio of 2.24 (95% confidence interval [95%CI] 1.44-3.49). Combined genotype data on SNPs on eight other candidate genes were combined with our IL-3 results, to estimate relationships between pairs of loci and RA, by maximum-likelihood analysis. The utility of combining the genotype data in this way to identify possible contributions of various genes to this disease is discussed.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL3
Diseases sorted by gene-association score: subcutaneous mycosis (18), neutropenia, cyclic (15), megakaryocytic leukemia (12), eosinophilic gastroenteritis (11), eosinophilic pneumonia (11), hypereosinophilic syndrome (11), thrombocytosis (11), seborrheic infantile dermatitis (10), refractory anemia (10), aplastic anemia (10), severe congenital neutropenia (10), hematologic cancer (10), diamond-blackfan anemia (9), stachybotrys chartarum (9), primary polycythemia (9), thrombocytopenia, congenital amegakaryocytic (9), neutropenia (9), intrinsic asthma (9), leukemia, chronic myeloid, somatic (9), polycythemia (8), retinitis pigmentosa and erythrocytic microcytosis (8), cyclic thrombocytopenia (8), leukemia, acute lymphoblastic (8), myelofibrosis with myeloid metaplasia, somatic (7), polycythemia vera, somatic (7), atopic keratoconjunctivitis (7), hairy cell leukemia (7), essential thrombocythemia (7), pollen allergy (7), myeloid leukemia (7), felty syndrome (7), diphtheria (7), bone marrow cancer (6), mast cell neoplasm (6), congenital hemolytic anemia (6), hypereosinophilic syndrome, idiopathic, resistant to imatinib (6), neutropenia, severe congenital 3, autosomal recessive (6), leukocyte disease (6), soft tissue sarcoma (5), anemia of prematurity (5), myelodysplastic syndrome (5), eosinophilic gastritis (5), bone fracture (4), skeletal tuberculosis (4), asthma (4), erythrocytosis, somatic (4), acute leukemia (4), hodgkin lymphoma (3), deficiency anemia (3), fanconi anemia, complementation group a (2), lymphoma, non-hodgkin (2), leukemia, acute promyelocytic, somatic (1), immune system disease (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.06 RPKM in Testis
Total median expression: 0.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.9053-0.092 Picture PostScript Text
3' UTR -117.08412-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR002183 - Interleukin_3

Pfam Domains:
PF02059 - Interleukin-3

SCOP Domains:
47266 - 4-helical cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JLI - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P08700
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004713 protein tyrosine kinase activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005125 cytokine activity
GO:0005135 interleukin-3 receptor binding
GO:0005149 interleukin-1 receptor binding
GO:0008083 growth factor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0001660 fever generation
GO:0001959 regulation of cytokine-mediated signaling pathway
GO:0006955 immune response
GO:0007267 cell-cell signaling
GO:0007399 nervous system development
GO:0008284 positive regulation of cell proliferation
GO:0010469 regulation of receptor activity
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0019221 cytokine-mediated signaling pathway
GO:0035162 embryonic hemopoiesis
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  M20137 - Human interleukin 3 (IL-3) mRNA, complete cds, clone pcD-SR-alpha.
BC069472 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:96913 IMAGE:7262122), complete cds.
BC066272 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:79396 IMAGE:6971773), complete cds.
BC066273 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:79397 IMAGE:6971774), complete cds.
BC066274 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:79398 IMAGE:6971775), complete cds.
BC066275 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:79399 IMAGE:6971776), complete cds.
BC066276 - Homo sapiens interleukin 3 (colony-stimulating factor, multiple), mRNA (cDNA clone MGC:79400 IMAGE:6971777), complete cds.
M17115 - Human multilineage-colony-stimulating factor mRNA, complete cds.
M14743 - Human interleukin 3 (IL-3) mRNA, complete cds.
KJ891454 - Synthetic construct Homo sapiens clone ccsbBroadEn_00848 IL3 gene, encodes complete protein.
CU686832 - Synthetic construct Homo sapiens gateway clone IMAGE:100022567 5' read IL3 mRNA.
HQ448457 - Synthetic construct Homo sapiens clone IMAGE:100071885; CCSB013807_01 interleukin 3 (colony-stimulating factor, multiple) (IL3) gene, encodes complete protein.
E03379 - cDNA encoding improved human interleukin3(hIL31).
E03381 - cDNA encoding improved human interleukin3(hIL33).
E03384 - cDNA encoding improved human interleukin3(hIL36).
E03380 - cDNA encoding improved human interleukin3(hIL32).
E03382 - cDNA encoding improved human interleukin3(hIL34).
E03383 - cDNA encoding improved human interleukin3(hIL35).
JD214977 - Sequence 196001 from Patent EP1572962.
JD036387 - Sequence 17411 from Patent EP1572962.
JD260021 - Sequence 241045 from Patent EP1572962.
JD152801 - Sequence 133825 from Patent EP1572962.
JD050722 - Sequence 31746 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04210 - Apoptosis
hsa04630 - Jak-STAT signaling pathway
hsa04640 - Hematopoietic cell lineage
hsa04664 - Fc epsilon RI signaling pathway
hsa05310 - Asthma

BioCarta from NCI Cancer Genome Anatomy Project
h_erythPathway - Erythrocyte Differentiation Pathway
h_badPathway - Regulation of BAD phosphorylation
h_cytokinePathway - Cytokine Network
h_eosinophilsPathway - The Role of Eosinophils in the Chemokine Network of Allergy
h_inflamPathway - Cytokines and Inflammatory Response
h_stemPathway - Regulation of hematopoiesis by cytokines
h_il17Pathway - IL 17 Signaling Pathway
h_il3Pathway - IL 3 signaling pathway
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development

Reactome (by CSHL, EBI, and GO)

Protein P08700 (Reactome details) participates in the following event(s):

R-HSA-450074 Interleukin-3 receptor alpha subunit binds Interleukin-3
R-HSA-450031 Interleukin-3 receptor alpha: Interleukin-3 binds IL3RB:JAK2
R-HSA-879907 Tyrosine kinases phosphorylate the receptor
R-HSA-879910 JAK2 is phosphorylated, activated
R-HSA-913451 IL3RB is phosphorylated on Ser-585
R-HSA-879930 STAT5 is recruited by JAK2
R-HSA-921155 p-STAT5 dissociates from the receptor complex
R-HSA-879934 Recruitment of SHC1 is mediated by Y593 of the common beta chain
R-HSA-909738 SHP1 and SHP2 bind the common beta chain
R-HSA-912757 p-S585-IL3RB binds 14-3-3 proteins
R-HSA-879909 Activation of STAT5a/b by JAK2
R-HSA-879925 SHC1 bound to the common beta chain becomes tyrosine phosphorylated
R-HSA-914036 SHP1 and SHP2 dephosphorylate Y628 of IL3RB
R-HSA-914182 14-3-3 zeta binding allows recruitment of PI3K
R-HSA-453111 Phosphorylated SHC recruits GRB2:SOS1
R-HSA-913374 Phosphorylated SHC1 recruits SHIP
R-HSA-913424 The SHC1:SHIP1 complex is stabilized by GRB2
R-HSA-508247 Gab2 binds the p85 subunit of Class 1A PI3 kinases
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-8939247 RUNX1 regulates transcription of genes involved in interleukin signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-212436 Generic Transcription Pathway
R-HSA-168256 Immune System
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-451927 Interleukin-2 family signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: IL3_HUMAN, NM_000588, NP_000579, P08700, Q6GS87
UCSC ID: uc003kwe.1
RefSeq Accession: NM_000588
Protein: P08700 (aka IL3_HUMAN)
CCDS: CCDS4149.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000588.3
exon count: 5CDS single in 3' UTR: no RNA size: 924
ORF size: 459CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1091.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.