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

    Gene ID: 2205, updated on 27-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
    mouse all
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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
    • 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)

    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

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