{ "uniprot_canonical_ac": "P12319-1", "uniprot_ac": "P12319", "uniprot_id": "FCERA_HUMAN", "mass": { "chemical_mass": 29596.0, "monoisotopic_mass": 29596.0 }, "refseq": { "ac": "NP_001992", "name": "high affinity immunoglobulin epsilon receptor subunit alpha isoform 1 precursor", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, "gene_names": [ { "name": "FCER1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12319", "id": "P12319" }, { "name": "FCE1A; FcERI; FCERIA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992", "id": "NP_001992" }, { "name": "FCE1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12319", "id": "P12319" }, { "name": "FCER1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992", "id": "NP_001992" } ], "protein_names": [ { "name": "High affinity immunoglobulin epsilon receptor subunit alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12319" }, { "name": "Fc IgE receptor, alpha polypeptide; immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide; Fc-epsilon RI-alpha; Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide; high affinity immunoglobulin epsilon receptor alpha-subunit; Fc fragment of IgE receptor Ia; FcepsilonRIalpha; FcepsilonRI alpha chain; high affinity immunoglobulin epsilon receptor subunit alpha; Fc epsilon RI alpha-chain; igE Fc receptor subunit alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992", "id": "NP_001992" }, { "name": "Fc-epsilon RI-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12319" }, { "name": "FcERI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12319" }, { "name": "IgE Fc receptor subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12319" }, { "name": "high affinity immunoglobulin epsilon receptor subunit alpha isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992", "id": "NP_001992" } ], "function": [ { "annotation": "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.", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "21216468", "url": "https://glygen.org/publication/PubMed/21216468" } ] }, { "annotation": "FcER1: A Novel Molecule Implicated in the Progression of Human Diabetic Kidney Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "34925339", "url": "https://glygen.org/publication/PubMed/34925339" } ] }, { "annotation": "Genetic association study of CTLA4 and FCepsilonRIalpha polymorphisms in asthmatic patients in the southwestern region of Iran.", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "34420484", "url": "https://glygen.org/publication/PubMed/34420484" } ] }, { "annotation": "High-affinity receptor for immunoglobulin epsilon/IgE. Mediates IgE effector functions in myeloid cells. Upon IgE binding and antigen/allergen cross-linking initiates signaling pathways that lead to myeloid cell activation and differentiation. On mast cells, basophils and eosinophils stimulates the secretion of vasoactive amines, lipid mediators and cytokines that contribute to inflammatory response, tissue remodeling and cytotoxicity against microbes. Triggers the immediate hypersensitivity response to allergens as a host defense mechanism against helminth parasites, pathogenic bacteria and venom toxicity. When dysregulated, it can elicit harmful life-threatening allergic and anaphylactic reactions.", "evidence": [ { "database": "UniProtKB", "id": "P12319", "url": "https://www.uniprot.org/uniprot/P12319#function" }, { "database": "PubMed", "id": "8551243", "url": "https://glygen.org/publication/PubMed/8551243" }, { "database": "PubMed", "id": "8114916", "url": "https://glygen.org/publication/PubMed/8114916" } ] }, { "annotation": "Inverse association of FCER1A allergy variant in monocytes and plasmacytoid dendritic cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "33160967", "url": "https://glygen.org/publication/PubMed/33160967" } ] }, { "annotation": "Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal allergy by modulating the expression of FcepsilonRI in mast cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "36368013", "url": "https://glygen.org/publication/PubMed/36368013" } ] }, { "annotation": "The Crosstalk between FcepsilonRI and Sphingosine Signaling in Allergic Inflammation. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" }, { "database": "PubMed", "id": "36430378", "url": "https://glygen.org/publication/PubMed/36430378" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001992" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs750378478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750378478" }, { "id": "rs750378478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750378478" }, { "id": "rs750378478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750378478#frequency_tab" }, { "id": "rs750378478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750378478" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 69, "end_pos": 69, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NGS->NGN).", "chr_id": "1", "chr_pos": "159304057", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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