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

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 Ensembl:ENSG00000292332 MIM:308385; MIM:430000; AllianceGenome:HGNC:6012
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; IL-3R-alpha
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: all
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Genomic context

Location:: X;Y

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1336785..1382689)
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1336785..1382689)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1187106..1226335)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1201550..1246464)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1455678..1501582)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1405678..1451582)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of IL3RA in a Family with Lumbar Spinal Stenosis.
Title: Role of IL3RA in a Family with Lumbar Spinal Stenosis.
Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
Title: Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia.
Title: Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia.
High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
Title: High placental expression of FLT1, LEP, PHYHIP and IL3RA - In persons of African ancestry with severe preeclampsia.
Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
Title: Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
CD123 a Therapeutic Target for Acute Myeloid Leukemia and Blastic Plasmocytoid Dendritic Neoplasm.
Title: CD123 a Therapeutic Target for Acute Myeloid Leukemia and Blastic Plasmocytoid Dendritic Neoplasm.
Interleukin-3 is associated with sTREM2 and mediates the correlation between amyloid-beta and tau pathology in Alzheimer's disease.
Title: Interleukin-3 is associated with sTREM2 and mediates the correlation between amyloid-β and tau pathology in Alzheimer's disease.
Expression of CD123 Related Long Non-coding RNA in Acute Myeloid Leukemia Bone Marrow Mononuclear Cells and Its Clinical Significance.
Title: Expression of CD123 Related Long Non-coding RNA in Acute Myeloid Leukemia Bone Marrow Mononuclear Cells and Its Clinical Significance.
The Expressions of CD30 and CD123 of Mastocytosis in Taiwan.
Title: The Expressions of CD30 and CD123 of Mastocytosis in Taiwan.
CD123 Expression Is Associated With High-Risk Disease Characteristics in Childhood Acute Myeloid Leukemia: A Report From the Children's Oncology Group.
Title: CD123 Expression Is Associated With High-Risk Disease Characteristics in Childhood Acute Myeloid Leukemia: A Report From the Children's Oncology Group.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65317 (e-PCR)
- UniSTS:50259

IL3RA_2734 (e-PCR)
- UniSTS:462276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-3 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interleukin-3	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-3-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-3 receptor subunit alpha

Names: CD123 antigen; IL-3 receptor subunit alpha; IL-3R subunit alpha; interleukin 3 receptor, alpha (low affinity)

NCBI Reference Sequences (RefSeq)

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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)

NM_001267713.2 → NP_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, ENSP00000518612.1, ENST00000381469.7, ENST00000711217.1

Conserved Domains (1) summary

pfam09240
Location:29 → 127

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_002183.4 → NP_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

A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7

Related

ENSP00000327890.4, ENSP00000518590.1, ENST00000331035.10, ENST00000711219.1

Conserved Domains (1) summary

pfam09240
Location:107 → 205

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

1336785..1382689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005274432.2 → XP_005274489.1 interleukin-3 receptor subunit alpha isoform X4

See identical proteins and their annotated locations for XP_005274489.1

Conserved Domains (1) summary

pfam09240
Location:107 → 204

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_005274431.6 → XP_005274488.1 interleukin-3 receptor subunit alpha isoform X3

See identical proteins and their annotated locations for XP_005274488.1

UniProtKB/Swiss-Prot

A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7

Conserved Domains (1) summary

pfam09240
Location:107 → 205

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_017029491.3 → XP_016884980.1 interleukin-3 receptor subunit alpha isoform X4

Conserved Domains (1) summary

pfam09240
Location:107 → 204

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_047442090.1 → XP_047298046.1 interleukin-3 receptor subunit alpha isoform X1
XM_047442091.1 → XP_047298047.1 interleukin-3 receptor subunit alpha isoform X2

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

1336785..1382689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005274781.2 → XP_005274838.1 interleukin-3 receptor subunit alpha isoform X4

See identical proteins and their annotated locations for XP_005274838.1

Conserved Domains (1) summary

pfam09240
Location:107 → 204

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_005274780.6 → XP_005274837.1 interleukin-3 receptor subunit alpha isoform X3

See identical proteins and their annotated locations for XP_005274837.1

UniProtKB/Swiss-Prot

A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7

Conserved Domains (1) summary

pfam09240
Location:107 → 205

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_017030043.3 → XP_016885532.1 interleukin-3 receptor subunit alpha isoform X4

Conserved Domains (1) summary

pfam09240
Location:107 → 204

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
XM_047442730.1 → XP_047298686.1 interleukin-3 receptor subunit alpha isoform X1
XM_047442731.1 → XP_047298687.1 interleukin-3 receptor subunit alpha isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

1187106..1226335

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327016.1 → XP_054182991.1 interleukin-3 receptor subunit alpha isoform X4
XM_054327015.1 → XP_054182990.1 interleukin-3 receptor subunit alpha isoform X3

UniProtKB/Swiss-Prot

A8K3F3, B9VI81, P26951, Q5HYQ7, Q5HYQ8, Q9UEH7
XM_054327017.1 → XP_054182992.1 interleukin-3 receptor subunit alpha isoform X4
XM_054327013.1 → XP_054182988.1 interleukin-3 receptor subunit alpha isoform X1
XM_054327014.1 → XP_054182989.1 interleukin-3 receptor subunit alpha isoform X2