{ "uniprot_canonical_ac": "P11912-1", "uniprot_ac": "P11912", "uniprot_id": "CD79A_HUMAN", "mass": { "chemical_mass": 25038.0, "monoisotopic_mass": 25038.0 }, "refseq": { "ac": "NP_001774", "name": "B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor", "summary": "The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" }, "gene_names": [ { "name": "CD79A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11912", "id": "P11912" }, { "name": "CD79A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774", "id": "NP_001774" }, { "name": "IGA; IGAlpha; MB-1; MB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774", "id": "NP_001774" }, { "name": "IGA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11912", "id": "P11912" }, { "name": "MB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11912", "id": "P11912" } ], "protein_names": [ { "name": "B-cell antigen receptor complex-associated protein alpha chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11912" }, { "name": "B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774", "id": "NP_001774" }, { "name": "Ig-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11912" }, { "name": "MB-1 membrane glycoprotein; CD79a antigen (immunoglobulin-associated alpha); B-cell antigen receptor complex-associated protein alpha chain; surface IgM-associated protein; ig-alpha; membrane-bound immunoglobulin-associated protein; CD79a molecule, immunoglobulin-associated alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774", "id": "NP_001774" }, { "name": "MB-1 membrane glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11912" }, { "name": "Membrane-bound immunoglobulin-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11912" }, { "name": "Surface IgM-associated protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11912" } ], "function": [ { "annotation": "Compromised antigen binding and signaling interfere with bispecific CD19 and CD79a chimeric antigen receptor function.", "evidence": [ { "database": "RefSeq", "id": "NP_001774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" }, { "database": "PubMed", "id": "36469024", "url": "https://glygen.org/publication/PubMed/36469024" } ] }, { "annotation": "Galactose-deficient IgA1 Is Involved in IgA Deposition in Renal Grafts Biopsied One Hour after Kidney Transplantation.", "evidence": [ { "database": "RefSeq", "id": "NP_001774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" }, { "database": "PubMed", "id": "36288981", "url": "https://glygen.org/publication/PubMed/36288981" } ] }, { "annotation": "Immunoglobulin A levels and its correlation with neutrophil-to-lymphocyte ratio as inflammatory biomarkers for dry eye disease in type 2 diabetes: a retrospective study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" }, { "database": "PubMed", "id": "37520541", "url": "https://glygen.org/publication/PubMed/37520541" } ] }, { "annotation": "Mechanism of CD79A and CD79B Support for IgM+ B Cell Fitness through B Cell Receptor Surface Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" }, { "database": "PubMed", "id": "36426942", "url": "https://glygen.org/publication/PubMed/36426942" } ] }, { "annotation": "Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B-cells.", "evidence": [ { "database": "UniProtKB", "id": "P11912", "url": "https://www.uniprot.org/uniprot/P11912#function" }, { "database": "PubMed", "id": "9057631", "url": "https://glygen.org/publication/PubMed/9057631" }, { "database": "PubMed", "id": "8617796", "url": "https://glygen.org/publication/PubMed/8617796" } ] }, { "annotation": "The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001774" } ] } ], "disease": [ { "disease_id": "DOID:0081137", "recommended_name": { "id": "DOID:0081137", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081137", "name": "agammaglobulinemia 3", "description": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2." }, "synonyms": [ { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "agammaglobulinemia 3, autosomal recessive", "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." }, { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "CD79A autosomal agammaglobulinemia", "description": "" }, { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "agammaglobulinemia 3, autosomal recessive", "description": "" }, { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "autosomal agammaglobulinemia caused by mutation in CD79A", "description": "" }, { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "AGM3", "description": "" }, { "id": "MONDO:0013288", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013288", "name": "agammaglobulinemia, autosomal recessive, due to Cd79A defect", "description": "" }, { "id": "MIM:613501", "resource": "MIM", "url": "https://www.omim.org/entry/613501", "name": "Agammaglobulinemia 3, autosomal recessive", "description": "Agammaglobulinemia 3, autosomal recessive" } ], "evidence": [ { "id": "613501", "database": "MIM", "url": "https://www.omim.org/entry/613501" } ] } ], "snv": [ { "evidence": [ { "id": "P11912", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11912" }, { "id": "rs151224661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151224661" }, { "id": "rs151224661", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151224661" }, { "id": "rs151224661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151224661" }, { "id": "rs151224661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151224661#frequency_tab" }, { "id": "rs151224661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151224661" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 63, "end_pos": 63, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 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"https://bgee.org/?page=gene&gene_id=ENSG00000105369" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "56.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105369", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105369" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105369", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105369" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "59.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105369", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105369" } ] }, { "tissue": { "name": "Prostate gland", 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"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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11912", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11912" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11912", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11912" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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