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

    Gene ID: 3563, updated on 24-Nov-2020

    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:
    X;Y
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (1336574..1382689)
    109.20201120 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

    Associated conditions

    Description Tests
    Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.
    GeneReviews: Not available

    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 
    protein binding IPI
    Inferred from Physical Interaction
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 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_001267713.2NP_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 109.20201120

    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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