Human Gene IL3RA (ENST00000331035.10) from GENCODE V44
  Description: Homo sapiens interleukin 3 receptor subunit alpha (IL3RA), transcript variant 1, mRNA. (from RefSeq NM_002183)
RefSeq Summary (NM_002183): 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].
Gencode Transcript: ENST00000331035.10
Gencode Gene: ENSG00000185291.12
Transcript (Including UTRs)
   Position: hg38 chrX:1,336,785-1,382,689 Size: 45,905 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chrX:1,341,766-1,382,465 Size: 40,700 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:1,336,785-1,382,689)mRNA (may differ from genome)Protein (378 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IL3RA_HUMAN
DESCRIPTION: RecName: Full=Interleukin-3 receptor subunit alpha; Short=IL-3 receptor subunit alpha; Short=IL-3R subunit alpha; Short=IL-3R-alpha; Short=IL-3RA; AltName: CD_antigen=CD123; Flags: Precursor;
FUNCTION: This is a receptor for interleukin-3.
SUBUNIT: Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding.
DOMAIN: The box 1 motif is required for JAK interaction and/or activation.
MISCELLANEOUS: The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
SIMILARITY: Belongs to the type I cytokine receptor family. Type 5 subfamily.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/IL3RAID40959chXp22Yp13.html";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il3ra/";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: IL3RA
Diseases sorted by gene-association score: acute basophilic leukemia (3), blastic plasmacytoid dendritic cell (2), hematologic cancer (2), infiltrating lipoma (1), chilblain lupus (1), indeterminate leprosy (1), leukemia, acute myeloid (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.46 RPKM in Lung
Total median expression: 304.99 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 -48.30180-0.268 Picture PostScript Text
3' UTR -80.10224-0.358 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
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR015321 - IL6_recept-bd
IPR003532 - Short_hematopoietin_rcpt_2_CS

Pfam Domains:
PF09240 - Interleukin-6 receptor alpha chain, binding

ModBase Predicted Comparative 3D Structure on P26951
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004713 protein tyrosine kinase activity
GO:0004896 cytokine receptor activity
GO:0004912 interleukin-3 receptor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0019221 cytokine-mediated signaling pathway
GO:0036016 cellular response to interleukin-3
GO:0038156 interleukin-3-mediated signaling pathway

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC035407 - Homo sapiens interleukin 3 receptor, alpha (low affinity), mRNA (cDNA clone MGC:34174 IMAGE:5167281), complete cds.
LF384960 - JP 2014500723-A/192463: Polycomb-Associated Non-Coding RNAs.
MA620537 - JP 2018138019-A/192463: Polycomb-Associated Non-Coding RNAs.
AK290568 - Homo sapiens cDNA FLJ75646 complete cds, highly similar to Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.
M74782 - Human interleukin 3 receptor (hIL-3Ra) mRNA, complete cds.
JD437725 - Sequence 418749 from Patent EP1572962.
JD116448 - Sequence 97472 from Patent EP1572962.
JD099654 - Sequence 80678 from Patent EP1572962.
AB463079 - Synthetic construct DNA, clone: pF1KB5211, Homo sapiens IL3RA gene for interleukin 3 receptor, alpha, without stop codon, in Flexi system.
EU176623 - Synthetic construct Homo sapiens clone IMAGE:100011431; FLH179728.01L; RZPDo839B11131D interleukin 3 receptor, alpha (low affinity) (IL3RA) gene, encodes complete protein.
FJ550347 - Homo sapiens IL-3 receptor alpha SP2 isoform precursor, mRNA, complete cds.
JD155627 - Sequence 136651 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

BioCarta from NCI Cancer Genome Anatomy Project
h_badPathway - Regulation of BAD phosphorylation
h_il3Pathway - IL 3 signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P26951 (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-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System
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: A8K3F3, B9VI81, ENST00000331035.1, ENST00000331035.2, ENST00000331035.3, ENST00000331035.4, ENST00000331035.5, ENST00000331035.6, ENST00000331035.7, ENST00000331035.8, ENST00000331035.9, IL3R, IL3RA_HUMAN, NM_002183, P26951, Q5HYQ7, uc004fpf.1, uc004fpf.2, uc004fpf.3, uc004fpf.4, uc004fpf.5
UCSC ID: ENST00000331035.10
RefSeq Accession: NM_002183
Protein: P26951 (aka IL3RA_HUMAN or IL3R_HUMAN)
CCDS: CCDS14113.1, CCDS14113.1

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