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

Gene ID: 3563, updated on 31-Dec-2019

Summary

Official Symbol
IL3RAprovided by HGNC
Official Full Name
interleukin 3 receptor subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:6012
See related
Ensembl:ENSG00000185291 MIM:308385; MIM:430000
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
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

Genomic context

See IL3RA in Genome Data Viewer
Location:
Xp22.33 and Yp11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (1336574..1382689)
109.20191205 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (1336574..1382689)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1455488..1501582)
105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1405488..1451582)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene colony stimulating factor 2 receptor subunit alpha Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene uncharacterized LOC101928055 Neighboring gene uncharacterized LOC105373102 Neighboring gene solute carrier family 25 member 6

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene colony stimulating factor 2 receptor subunit alpha Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene uncharacterized LOC101928055 Neighboring gene uncharacterized LOC105373102 Neighboring gene solute carrier family 25 member 6

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-3 receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cellular response to interleukin-3 IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-3-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
interleukin-3 receptor subunit alpha
Names
CD123 antigen
IL-3 receptor alpha SP2 isoform
IL-3 receptor subunit alpha
IL-3R subunit alpha
IL-3R-alpha
IL-3RA
interleukin 3 receptor, alpha (low affinity)

NCBI Reference Sequences (RefSeq)

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_001267713.1NP_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, ENST00000381469.7
    Conserved Domains (1) summary
    pfam09240
    Location:29127
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. NM_002183.4NP_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
    P26951
    Related
    ENSP00000327890.4, ENST00000331035.10
    Conserved Domains (1) summary
    pfam09240
    Location:107205
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    1336574..1382689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029491.2XP_016884980.1  interleukin-3 receptor subunit alpha isoform X2

    Conserved Domains (1) summary
    pfam09240
    Location:107204
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. XM_005274431.5XP_005274488.1  interleukin-3 receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_005274488.1

    UniProtKB/Swiss-Prot
    P26951
    Conserved Domains (1) summary
    pfam09240
    Location:107205
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. XM_005274432.1XP_005274489.1  interleukin-3 receptor subunit alpha isoform X2

    See identical proteins and their annotated locations for XP_005274489.1

    Conserved Domains (1) summary
    pfam09240
    Location:107204
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    1336574..1382689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017030043.2XP_016885532.1  interleukin-3 receptor subunit alpha isoform X2

    Conserved Domains (1) summary
    pfam09240
    Location:107204
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. XM_005274780.5XP_005274837.1  interleukin-3 receptor subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_005274837.1

    UniProtKB/Swiss-Prot
    P26951
    Conserved Domains (1) summary
    pfam09240
    Location:107205
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. XM_005274781.1XP_005274838.1  interleukin-3 receptor subunit alpha isoform X2

    See identical proteins and their annotated locations for XP_005274838.1

    Conserved Domains (1) summary
    pfam09240
    Location:107204
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
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