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FCER1A Fc epsilon receptor Ia [ Homo sapiens (human) ]

Gene ID: 2205, updated on 2-Nov-2024

Summary

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Official Symbol
FCER1Aprovided by HGNC
Official Full Name
Fc epsilon receptor Iaprovided by HGNC
Primary source
HGNC:HGNC:3609
See related
Ensembl:ENSG00000179639 MIM:147140; AllianceGenome:HGNC:3609
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
FCE1A; FcERI; FCERIA
Summary
The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]
Expression
Broad expression in skin (RPKM 12.7), esophagus (RPKM 10.4) and 20 other tissues See more
Orthologs
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Genomic context

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See FCER1A in Genome Data Viewer
Location:
1q23.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159283575..159308202)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158420606..158445236)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159253365..159277992)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mucosal pentraxin 1 (pseudogene) Neighboring gene olfactory receptor family 10 subfamily J member 2 pseudogene Neighboring gene olfactory receptor family 10 subfamily J member 3 (gene/pseudogene) Neighboring gene uncharacterized LOC124904433 Neighboring gene olfactory receptor family 10 subfamily J member 7 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Common variants in FCER1A influence total serum IgE levels from cord blood up to six years of life. Chen CM, et al. Allergy, 2009 Sep. PMID 19245427
  2. Novel exon 2A of the high-affinity receptor for the IgE alpha-chain gene (FCER1A) and autoimmunity in patients with asthma or urticaria. Potaczek DP, et al. Ann Allergy Asthma Immunol, 2006 Nov. PMID 17165285
  3. Genetic polymorphisms of the novel FCERIA gene region: relation to total serum IgE levels. Potaczek DP, et al. Ann Allergy Asthma Immunol, 2007 May. PMID 17521040
  4. Coding region for the high affinity receptor of immunoglobulin E is highly conservative in allergic patients. Potaczek DP, et al. Clin Exp Allergy, 2007 Oct. PMID 17883736
  5. Genetic variability of the high-affinity IgE receptor alpha subunit (Fc epsilon RI alpha) is related to total serum IgE levels in allergic subjects. Sanak M, et al. Allergol Int, 2007 Dec. PMID 17965580

See all (149) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal allergy by modulating the expression of FcepsilonRI in mast cells.
    Title: Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal allergy by modulating the expression of FcεRI in mast cells.
  2. The Crosstalk between FcepsilonRI and Sphingosine Signaling in Allergic Inflammation.
    Title: The Crosstalk between FcεRI and Sphingosine Signaling in Allergic Inflammation.
  3. FcER1: A Novel Molecule Implicated in the Progression of Human Diabetic Kidney Disease.
    Title: FcER1: A Novel Molecule Implicated in the Progression of Human Diabetic Kidney Disease.
  4. Genetic association study of CTLA4 and FCepsilonRIalpha polymorphisms in asthmatic patients in the southwestern region of Iran.
    Title: Genetic association study of CTLA4 and FCεRIα polymorphisms in asthmatic patients in the southwestern region of Iran.
  5. Inverse association of FCER1A allergy variant in monocytes and plasmacytoid dendritic cells.
    Title: Inverse association of FCER1A allergy variant in monocytes and plasmacytoid dendritic cells.
  6. Interaction between functional polymorphisms in FCER1A and TLR2 and the severity of atopic dermatitis.
    Title: Interaction between functional polymorphisms in FCER1A and TLR2 and the severity of atopic dermatitis.
  7. Prediction of prognostic signatures in triple-negative breast cancer based on the differential expression analysis via NanoString nCounter immune panel.
    Title: Prediction of prognostic signatures in triple-negative breast cancer based on the differential expression analysis via NanoString nCounter immune panel.
  8. FcepsilonRI Signaling in the Modulation of Allergic Response: Role of Mast Cell-Derived Exosomes.
    Title: FcεRI Signaling in the Modulation of Allergic Response: Role of Mast Cell-Derived Exosomes.
  9. Relevance of the Basophil High-Affinity IgE Receptor in Chronic Urticaria: Clinical Experience from a Tertiary Care Institution.
    Title: Relevance of the Basophil High-Affinity IgE Receptor in Chronic Urticaria: Clinical Experience from a Tertiary Care Institution.
  10. FCER1A (rs7549785) and possibly POLR3G (rs7712322) are shown to be associated with peginterferon alfa-2a response in adult patients with chronic hepatitis B.
    Title: Genetic variation in FCER1A predicts peginterferon alfa-2a-induced hepatitis B surface antigen clearance in East Asian patients with chronic hepatitis B.
Submit: New GeneRIF Correction See all GeneRIFs (105)

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
A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
EBI GWAS Catalog
Genome-wide association with select biomarker traits in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables IgE binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables IgE binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables high-affinity IgE receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables high-affinity IgE 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 Fc-epsilon receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in eosinophil degranulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in immunoglobulin mediated immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mast cell degranulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in type 2 immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in type I hypersensitivity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
high affinity immunoglobulin epsilon receptor subunit alpha
Names
Fc IgE receptor, alpha polypeptide
Fc epsilon RI alpha-chain
Fc fragment of IgE receptor Ia
Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
Fc-epsilon RI-alpha
FcepsilonRI alpha chain
FcepsilonRIalpha
high affinity immunoglobulin epsilon receptor alpha-subunit
igE Fc receptor subunit alpha
immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide

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)

  1. NM_001387280.1 → NP_001374209.1  high affinity immunoglobulin epsilon receptor subunit alpha isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL513323
    Consensus CDS
    CCDS1184.1
    UniProtKB/Swiss-Prot
    P12319
    UniProtKB/TrEMBL
    Q6GU38
    Related
    ENSP00000509626.1, ENST00000693622.1
    Conserved Domains (2) summary
    cd05752
    Location:30 → 108
    Ig1_FcgammaR_like; First immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains
    cd05753
    Location:112 → 194
    Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains

  2. NM_001387281.1 → NP_001374210.1  high affinity immunoglobulin epsilon receptor subunit alpha isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AL513323
    Conserved Domains (1) summary
    cd05753
    Location:27 → 109
    Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains

  3. NM_001387282.1 → NP_001374211.1  high affinity immunoglobulin epsilon receptor subunit alpha isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL513323
    Consensus CDS
    CCDS91081.1
    UniProtKB/TrEMBL
    E9PRN1, Q6GU38
    Related
    ENSP00000357096.1, ENST00000368114.1
    Conserved Domains (3) summary
    cd00096
    Location:7 → 13
    Ig; Ig strand B [structural motif]
    cd05753
    Location:79 → 161
    Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains
    cl11960
    Location:6 → 75
    Ig; Immunoglobulin domain

  4. NM_002001.4 → NP_001992.1  high affinity immunoglobulin epsilon receptor subunit alpha isoform 1 precursor

    See identical proteins and their annotated locations for NP_001992.1

    Status: REVIEWED

    Source sequence(s)
    AL513323
    Consensus CDS
    CCDS1184.1
    UniProtKB/Swiss-Prot
    P12319
    UniProtKB/TrEMBL
    Q6GU38
    Conserved Domains (2) summary
    cd05752
    Location:30 → 108
    Ig1_FcgammaR_like; First immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains
    cd05753
    Location:112 → 194
    Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs), and similar domains

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    159283575..159308202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791759.1 Reference GRCh38.p14 PATCHES

    Range
    35401..60028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    158420606..158445236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12319.1 GenPept UniProtKB/Swiss-Prot:P12319

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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