FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide [Homo sapiens] - Gene

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Summary

Official Symbol: FCER1Aprovided by HGNC
Official Full Name: Fc fragment of IgE, high affinity I, receptor for; alpha polypeptideprovided by HGNC
Primary source: HGNC:3609
Locus tag: RP11-550P17.3
See related: Ensembl:ENSG00000179639; HPRD:00917; MIM:147140; Vega:OTTHUMG00000037176
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
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]

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Genomic context

Location :: 1q23

Sequence :: Chromosome: 1; NC_000001.10 (159259504..159278014)

See FCER1A in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

increased FcepsilonRI expression on alveolar mast cells is a novel disease-specific feature of allergic asthma.
Title: Alveolar mast cells shift to an FcεRI-expressing phenotype in mild atopic asthma: a novel feature in allergic asthma pathology.
Data show that the developed method allows for comparative analysis of sFcepsilonRI levels in health and disease.
Title: Development and validation of a standardized ELISA for the detection of soluble Fc-epsilon-RI in human serum.
There were no significant relationships between FcepsilonRI and atopic dermatitis, although there were trends towards an association between the 66T>C (rs2251746) polymorphism and total serum IgE levels.
Title: FCεRI gene promoter polymorphisms and total IgE levels in susceptibility to atopic dermatitis in Korea.
FcepsilonRI transgene on dendritic cells drives the cascade of pathogenic reactions linking the initial allergen capture by IgE with subsequent T helper (Th)2-dominated T cell responses and the development of late-phase allergic tissue inflammation.
Title: High-affinity IgE receptors on dendritic cells exacerbate Th2-dependent inflammation.
The crystal structure of IgE bound to FcepsilonRI is determined.
Title: Conformational changes in IgE contribute to its uniquely slow dissociation rate from receptor FcɛRI.
SNPs in the FCER1A gene region show no association with allergic rhinitis in a Han Chinese population
Title: SNPs in the FCER1A gene region show no association with allergic rhinitis in a Han Chinese population.
Data indicate that although results rather show the lack of an association between FCER1A rs41264475 mutation and atopic dermatitis, they suggest that its minor allele can predispose to the concomitant asthma in AD patients.
Title: Naturally occurring FCER1A N222K mutation - its ethnicity-dependent distribution and a role in atopic dermatitis.
The ability of four synthetic and sequence-specific RNA interfering antisense oligodeoxynucleotides (AS-ODNs) to reduce the expression of FcepsilonRIalpha gene in granulocytes of allergy sufferers in vitro, was investigated.
Title: Specific post-transcriptional inhibition of mRNA for ligand binding chain of IgE high affinity receptor.
Secretagogue stimulation results in an increase in the immature p46 form of FcepsilonRIalpha due to reversal of degradative pathways rather than increased synthesis of FcepsilonRIalpha.
Title: IgE-dependent and IgE-independent stimulation of human basophils increases the presence of immature FcεRIα by reversing degradative pathways.
FCER1A variants by themselves and in combination influence IgE levels and act synergistically to influence eczema risk.
Title: Analysis of the high affinity IgE receptor genes reveals epistatic effects of FCER1A variants on eczema risk.

Submit: New GeneRIF Correction See all (71)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association with select biomarker traits in the Framingham Heart Study.

Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

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Products	Interactant	Other Gene	Source	Pubs	Description
P12319	P12319	FCER1A	HPRD	PubMed
P12319	P30273	FCER1G	HPRD	PubMed
P12319	P19823	ITIH2	HPRD	PubMed
P12319	Q01362	MS4A2	HPRD	PubMed
BioGRID:108499	BioGRID:113252	VAV1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
IgE binding	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
activation of JUN kinase activity	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
leukotriene biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of interleukin-3 biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of type I hypersensitivity	IEA Inferred from Electronic Annotation more info
serotonin secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: high affinity immunoglobulin epsilon receptor subunit alpha

Names: high affinity immunoglobulin epsilon receptor subunit alpha; Fc-epsilon RI-alpha; Fc epsilon RI alpha-chain; igE Fc receptor subunit alpha; Fc IgE receptor, alpha polypeptide; high affinity immunoglobulin epsilon receptor alpha-subunit; immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide

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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)

NM_002001.3 → NP_001992.1 high affinity immunoglobulin epsilon receptor subunit alpha precursor

Status: REVIEWED

Source sequence(s)

X06948

Consensus CDS

CCDS1184.1

UniProtKB/Swiss-Prot

P12319

Related

ENSP00000357097, OTTHUMP00000035287, ENST00000368115, OTTHUMT00000090328

Conserved Domains (2) summary

cd05752
Location:30 – 108
Blast Score: 316

Ig1_FcgammaR_like; Frst immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs) and similar proteins

cd05753
Location:112 – 194
Blast Score: 377

Ig2_FcgammaR_like; Second immunoglobulin (Ig)-like domain of Fcgamma-receptors (FcgammaRs) and similar proteins

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

159259504..159278014

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

130616512..130635025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A21606.1	CAA01564.1
genomic	AB059236.1	BAB84120.1
genomic	AL513323.14	CAI15596.1
		CAI15597.1
genomic	CH471121.2	EAW52789.1
genomic	CS544001.1	CAN36268.1
genomic	L14075.1	AAA16115.1
mRNA	BC005912.1	AAH05912.1
mRNA	BC015185.1	None
mRNA	BC015195.1	AAH15195.1
mRNA	J03605.1	AAA36204.1
mRNA	X06948.1	CAA30025.1
other-genetic	DQ893131.2	ABM84057.1
other-genetic	DQ896411.2	ABM87410.1
other-genetic	DQ896467.2	ABM87466.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P12319.1	GenPept	UniProtKB/Swiss-Prot:P12319
Q6GU38	GenPept	UniProtKB/TrEMBL:Q6GU38
Q8WYP6	GenPept	UniProtKB/TrEMBL:Q8WYP6