{ "uniprot_canonical_ac": "O60667-1", "uniprot_ac": "O60667", "uniprot_id": "FCMR_HUMAN", "mass": { "chemical_mass": 43146.0, "monoisotopic_mass": 43146.0 }, "refseq": { "ac": "NP_001135945", "name": "immunoglobulin mu Fc receptor isoform b", "summary": "Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, "gene_names": [ { "name": "FCMR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60667", "id": "O60667" }, { "name": "FAIM3; FcmuR; IgM FcR; TOSO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "id": "NP_001135945" }, { "name": "FAIM3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60667", "id": "O60667" }, { "name": "FCMR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "id": "NP_001135945" }, { "name": "TOSO", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60667", "id": "O60667" } ], "protein_names": [ { "name": "Immunoglobulin mu Fc receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60667" }, { "name": "FAIM3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60667" }, { "name": "Fas apoptotic inhibitory molecule 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60667" }, { "name": "Fc fragment of IgM receptor; IgM Fc receptor; immunoglobulin mu Fc receptor; regulator of Fas-induced apoptosis Toso; Fas apoptotic inhibitory molecule 3; IgM Fc fragment receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "id": "NP_001135945" }, { "name": "IgM FcR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60667" }, { "name": "Regulator of Fas-induced apoptosis Toso", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60667" }, { "name": "immunoglobulin mu Fc receptor isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "id": "NP_001135945" } ], "function": [ { "annotation": "Association with unmutated IgV(H) and the specific induction of TOSO via the BCR suggest autoreactive BCR signaling as a key mediator of apoptosis resistance in CLL. Erratum:[Blood. 2018 May 17;131(20):2272. PMID: 29773545]", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "18708628", "url": "https://glygen.org/publication/PubMed/18708628" } ] }, { "annotation": "Demonstrated a 5.6-fold increase of TOSO protein in circulating CLL cells and lymph nodes", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "18434611", "url": "https://glygen.org/publication/PubMed/18434611" } ] }, { "annotation": "Differences between Human and Mouse IgM Fc Receptor (FcmicroR). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "34209905", "url": "https://glygen.org/publication/PubMed/34209905" } ] }, { "annotation": "Enzymatically modified-LDL-generated foam cells are protected from cell death most likely through the expression of TOSO by a FLIP(L) independent mechanism", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "17553462", "url": "https://glygen.org/publication/PubMed/17553462" } ] }, { "annotation": "Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ] }, { "annotation": "High-affinity Fc receptor for immunoglobulin M (IgM), both secreted and membrane-bound IgM (PubMed:19858324, PubMed:22675200, PubMed:36949194, PubMed:37095205). Primarily regulates IgM transport and homeostasis. Primarily regulates IgM transport and homeostasis. In lymphoid cells, enables exocytosis of membrane-bound IgM on the plasma membrane as well as endocytosis of IgM-antigen complexes toward lysosomes for degradation. In mucosal epithelium, mediates retrotranscytosis of antigen-IgM complexes across mucosal M cells toward antigen-presenting cells in mucosal lymphoid tissues (PubMed:21908732, PubMed:28230186). Triggers costimulatory signaling and mediates most of IgM effector functions involved in B cell development and primary immune response to infection. Likely limits tonic IgM BCR signaling to self-antigens for proper negative selection of autoreactive B cells in the bone marrow and for the maintenance of regulatory B cell pool in peripheral lymphoid organs. Mediates antibody responses to T cell-dependent and T cell-independent antigens and promotes induction of an efficient neutralizing IgG response. Engages in cross-talk with antigen-receptor signaling via the non-canonical NF-kappa-B, MAP kinases and calcium signaling pathways (PubMed:19858324, PubMed:22675200, PubMed:25601920, PubMed:30840890).", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667#function" }, { "database": "PubMed", "id": "28230186", "url": "https://glygen.org/publication/PubMed/28230186" }, { "database": "PubMed", "id": "36949194", "url": "https://glygen.org/publication/PubMed/36949194" }, { "database": "PubMed", "id": "37095205", "url": "https://glygen.org/publication/PubMed/37095205" }, { "database": "PubMed", "id": "22675200", "url": "https://glygen.org/publication/PubMed/22675200" }, { "database": "PubMed", "id": "30840890", "url": "https://glygen.org/publication/PubMed/30840890" }, { "database": "PubMed", "id": "25601920", "url": "https://glygen.org/publication/PubMed/25601920" }, { "database": "PubMed", "id": "21908732", "url": "https://glygen.org/publication/PubMed/21908732" }, { "database": "PubMed", "id": "19858324", "url": "https://glygen.org/publication/PubMed/19858324" } ] }, { "annotation": "TGIF2 promotes cervical cancer metastasis by negatively regulating FCMR.", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "32572908", "url": "https://glygen.org/publication/PubMed/32572908" } ] }, { "annotation": "TOSO interacts with SYK and enhances BCR pathway activation in chronic lymphocytic leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" }, { "database": "PubMed", "id": "32784334", "url": "https://glygen.org/publication/PubMed/32784334" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs747239800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747239800" }, { "id": "rs747239800", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747239800" }, { "id": "rs747239800", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747239800" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 177, "end_pos": 177, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "1", "chr_pos": "206911911", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748391555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748391555" }, { "id": "rs748391555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748391555" }, { "id": "rs748391555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748391555#frequency_tab" }, { "id": "rs748391555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748391555" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "1", "chr_pos": "206911769", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T224", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60667", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60667" }, { "id": "rs748391555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748391555" }, { "id": "rs748391555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748391555" }, { "id": "rs748391555", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748391555" }, { "id": "rs748391555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748391555#frequency_tab" }, { "id": "rs748391555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748391555" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "1", "chr_pos": "206911769", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T224", "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" 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"description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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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, 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", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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 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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "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": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60667", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60667" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60667" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "common_name": "Human" } ], "gene": [ { "name": "FCMR", "url": "https://www.uniprot.org/uniprot/O60667", "locus": { "chromosome": "1", "start_pos": 206903317, "end_pos": 206923247, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000162894", "url": "https://www.ensembl.org/id/ENSG00000162894" } ] } } ], "crossref": [ { "id": "ENSG00000162894", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162894", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60667", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60667", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd05716", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05716", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FCMR", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCMR", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9214", "url": "https://www.ncbi.nlm.nih.gov/gene/9214", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14315", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14315", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60667", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60667*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9214", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9214", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606015", "url": "http://www.omim.org/entry/606015", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60667", "url": "https://www.nextprot.org/entry/NX_O60667", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60667", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FYHQPAA", "url": "https://omabrowser.org/oma/group/FYHQPAA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4594432at2759", "url": "http://www.orthodb.org/?query=4594432at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11860", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11860", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11860:SF59", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11860:SF59", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7YSG", "url": "https://www.rcsb.org/structure/7YSG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YTC", "url": "https://www.rcsb.org/structure/7YTC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YTD", "url": "https://www.rcsb.org/structure/7YTD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YTE", "url": "https://www.rcsb.org/structure/7YTE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8BPE", "url": "https://www.rcsb.org/structure/8BPE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8BPF", "url": "https://www.rcsb.org/structure/8BPF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8BPG", "url": "https://www.rcsb.org/structure/8BPG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60667", "url": "https://pharos.nih.gov/targets/O60667", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050795", "url": "https://proconsortium.org/app/entry/PR:000050795", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O60667", "url": "http://purl.obolibrary.org/obo/PR_O60667", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60667", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E9PMT7", "url": "https://www.uniprot.org/uniprot/E9PMT7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMT7-1", "url": "https://www.uniprot.org/uniprot/E9PMT7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN59", "url": "https://www.uniprot.org/uniprot/E9PN59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PN59-1", "url": "https://www.uniprot.org/uniprot/E9PN59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPV1", "url": "https://www.uniprot.org/uniprot/E9PPV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPV1-1", "url": "https://www.uniprot.org/uniprot/E9PPV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQG1", "url": "https://www.uniprot.org/uniprot/E9PQG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQG1-1", "url": "https://www.uniprot.org/uniprot/E9PQG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60667-1", "url": "https://www.uniprot.org/uniprot/O60667-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60667-2", "url": "https://www.uniprot.org/uniprot/O60667-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60667-3", "url": "https://www.uniprot.org/uniprot/O60667-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA", "length": 390, "header": "sp|O60667-1|FCMR_HUMAN Isoform 1 of Immunoglobulin mu Fc receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "isoforms": [ { "isoform_ac": "E9PMT7-1", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYL", "length": 147, "header": "tr|E9PMT7-1|E9PMT7_HUMAN Computationally mapped isoform of Fc mu receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206912975, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529560.1", "url": "https://www.ensembl.org/id/ENST00000529560.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437331.1", "url": "https://www.ensembl.org/id/ENSP00000437331.1" } ] } }, { "isoform_ac": "E9PN59-1", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMP", "length": 151, "header": "tr|E9PN59-1|E9PN59_HUMAN Computationally mapped isoform of Fc mu receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206912963, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525793.5", "url": "https://www.ensembl.org/id/ENST00000525793.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432936.1", "url": "https://www.ensembl.org/id/ENSP00000432936.1" } ] } }, { "isoform_ac": "E9PPV1-1", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNT", "length": 141, "header": "tr|E9PPV1-1|FCMR_HUMAN Computationally mapped isoform of Immunoglobulin mu Fc receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206913802, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530505.1", "url": "https://www.ensembl.org/id/ENST00000530505.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436316.1", "url": "https://www.ensembl.org/id/ENSP00000436316.1" } ] } }, { "isoform_ac": "E9PQG1-1", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVENTSHHGKSSQCLRLQNGFICPICSRCLHMPVLPNS", "length": 125, "header": "tr|E9PQG1-1|E9PQG1_HUMAN Computationally mapped isoform of Fc mu receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206912938, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000463473.2", "url": "https://www.ensembl.org/id/ENST00000463473.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000436799.1", "url": "https://www.ensembl.org/id/ENSP00000436799.1" } ] } }, { "isoform_ac": "O60667-1", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA", "length": 390, "header": "sp|O60667-1|FCMR_HUMAN Isoform 1 of Immunoglobulin mu Fc receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206905022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367091.8", "url": "https://www.ensembl.org/id/ENST00000367091.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356058.3", "url": "https://www.ensembl.org/id/ENSP00000356058.3" } ] } }, { "isoform_ac": "O60667-2", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA", "length": 278, "header": "sp|O60667-2|FCMR_HUMAN Isoform 2 of Immunoglobulin mu Fc receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206905022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442471.4", "url": "https://www.ensembl.org/id/ENST00000442471.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000404136.2", "url": "https://www.ensembl.org/id/ENSP00000404136.2" } ] } }, { "isoform_ac": "O60667-3", "url": "", "sequence": { "sequence": "MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQSPLQAGPPTGREDARPGELPEAPRVAATALPKQHLQRLPAARSWSGRCRHRGGPRSRPRSAVAPRPAAGV", "length": 306, "header": "sp|O60667-3|FCMR_HUMAN Isoform 3 of Immunoglobulin mu Fc receptor OS=Homo sapiens OX=9606 GN=FCMR PE=1 SV=1 CANONICAL=O60667-1" }, "locus": { "chromosome": "1", "start_pos": 206921854, "end_pos": 206905143, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628511.2", "url": "https://www.ensembl.org/id/ENST00000628511.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485739.1", "url": "https://www.ensembl.org/id/ENSP00000485739.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "O60667", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60667", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60667" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "site_lbl": "Thr92" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "E-LDL upregulates TOSO expression and enhances the survival of human macrophages.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Sigruener A, Buechler C, Bared SM, Grandl M, Aslanidis C, Ugocsai P, Gehrmann M, Schmitz G", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "17553462", "url": "https://glygen.org/publication/PubMed/17553462" } ] }, { "title": "SAGE analysis demonstrates increased expression of TOSO contributing to Fas-mediated resistance in CLL.", "journal": "Blood", "date": "2008", "authors": "Proto-Siqueira R, Panepucci RA, Careta FP, Lee A, Clear A, Morris K, Owen C, Rizzatti EG, Silva WA Jr, Falcao RP, Zago MA, Gribben JG", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "18434611", "url": "https://glygen.org/publication/PubMed/18434611" } ] }, { "title": "Overexpression of TOSO in CLL is triggered by B-cell receptor signaling and associated with progressive disease.", "journal": "Blood", "date": "2008", "authors": "Pallasch CP, Schulz A, Kutsch N, Schwamb J, Hagist S, Kashkar H, Ultsch A, Wickenhauser C, Hallek M, Wendtner CM", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "18708628", "url": "https://glygen.org/publication/PubMed/18708628" } ] }, { "title": "Identity of the elusive IgM Fc receptor (FcmuR) in humans.", "journal": "The Journal of experimental medicine", "date": "2009-11-23", "authors": "Kubagawa Hiromi, Oka Satoshi, Kubagawa Yoshiki, Torii Ikuko, Takayama Eiji, Kang Dong-Won, Gartland G Larry, Bertoli Luigi F, Mori Hiromi, Takatsu Hiroyuki, Kitamura Toshio, Ohno Hiroshi, Wang Ji-Yang", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "19858324", "url": "https://glygen.org/publication/PubMed/19858324" } ] }, { "title": "Enhanced levels of both the membrane-bound and soluble forms of IgM Fc receptor (Fc?R) in patients with chronic lymphocytic leukemia.", "journal": "Blood", "date": "2011", "authors": "Li FJ, Kubagawa Y, McCollum MK, Wilson L, Motohashi T, Bertoli LF, Barton JC, Barnes S, Davis RS, Kubagawa H", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "21908424", "url": "https://glygen.org/publication/PubMed/21908424" } ] }, { "title": "TOSO, the Fcmicro receptor, is highly expressed on chronic lymphocytic leukemia B cells, internalizes upon IgM binding, shuttles to the lysosome, and is downregulated in response to TLR activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Vire B, David A, Wiestner A", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "21908732", "url": "https://glygen.org/publication/PubMed/21908732" } ] }, { "title": "Toso, a functional IgM receptor, is regulated by IL-2 in T and NK cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2012", "authors": "Murakami Y, Narayanan S, Su S, Childs R, Krzewski K, Borrego F, Weck J, Coligan JE", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "22675200", "url": "https://glygen.org/publication/PubMed/22675200" } ] }, { "title": "Unique ligand-binding property of the human IgM Fc receptor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015-02-15", "authors": "Honjo Kazuhito, Kubagawa Yoshiki, Kearney John F, Kubagawa Hiromi", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "25601920", "url": "https://glygen.org/publication/PubMed/25601920" } ] }, { "title": "Nomenclature of Toso, Fas apoptosis inhibitory molecule 3, and IgM FcR.", "journal": "J. Immunol.", "date": "2015", "authors": "Kubagawa Hiromi, Carroll Michael C, Jacob Chaim O, Lang Karl S, Lee Kyeong-Hee, Mak Tak, McAndrews Monica, Morse Herbert C, Nolan Garry P, Ohno Hiroshi, Richter G\u00fcnther H, Seal Ruth, Wang Ji-Yang, Wiestner Adrian, Coligan John E", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "25888699", "url": "https://glygen.org/publication/PubMed/25888699" } ] }, { "title": "Glycan-independent binding and internalization of human IgM to FCMR, its cognate cellular receptor.", "journal": "Scientific reports", "date": "2017-02-23", "authors": "Lloyd Katy A, Wang Jiabin, Urban Britta C, Czajkowsky Daniel M, Pleass Richard J", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "28230186", "url": "https://glygen.org/publication/PubMed/28230186" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O60667", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Fc\u03bc receptor as a Costimulatory Molecule for T Cells.", "journal": "Cell reports", "date": "2019-03-05", "authors": "Meryk Andreas, Pangrazzi Luca, Hagen Magdalena, Hatzmann Florian, Jenewein Brigitte, Jakic Bojana, Hermann-Kleiter Natascha, Baier Gottfried, Jylh\u00e4v\u00e4 Juulia, Hurme Mikko, Trieb Klemens, Grubeck-Loebenstein Beatrix", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "30840890", "url": "https://glygen.org/publication/PubMed/30840890" } ] }, { "title": "TGIF2 promotes cervical cancer metastasis by negatively regulating FCMR.", "journal": "European review for medical and pharmacological sciences", "date": "2020", "authors": "Jiang J, Wu RH, Zhou HL, Li ZM, Kou D, Deng Z, Dong M, Chen LH", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "32572908", "url": "https://glygen.org/publication/PubMed/32572908" } ] }, { "title": "TOSO interacts with SYK and enhances BCR pathway activation in chronic lymphocytic leukemia.", "journal": "Chinese medical journal", "date": "2020", "authors": "Zhang YR, Yu Z, Xiong WJ, Liu XX, Liu HM, Cui R, Wang Q, Chen WM, Qiu LG, Yi SH", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "32784334", "url": "https://glygen.org/publication/PubMed/32784334" } ] }, { "title": "Differences between Human and Mouse IgM Fc Receptor (FcmicroR).", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Kubagawa H, Skopnik CM, Al-Qaisi K, Calvert RA, Honjo K, Kubagawa Y, Teuber R, Aliabadi PM, Enghard P, Radbruch A, Sutton BJ", "evidence": [ { "database": "RefSeq", "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945" } ], "reference": [ { "type": "PubMed", "id": "34209905", "url": "https://glygen.org/publication/PubMed/34209905" } ] }, { "title": "Immunoglobulin M perception by Fc\u03bcR.", "journal": "Nature", "date": "2023-03", "authors": "Li Yaxin, Shen Hao, Zhang Ruixue, Ji Chenggong, Wang Yuxin, Su Chen, Xiao Junyu", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "36949194", "url": "https://glygen.org/publication/PubMed/36949194" } ] }, { "title": "Structural basis for Fc receptor recognition of immunoglobulin M.", "journal": "Nature structural & molecular biology", "date": "2023-07", "authors": "Chen Qu, Menon Rajesh P, Masino Laura, Tolar Pavel, Rosenthal Peter B", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "37095205", "url": "https://glygen.org/publication/PubMed/37095205" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60667", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60667" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells.", "journal": "Immunity", "date": "1998", "authors": "Hitoshi Y, Lorens J, Kitada SI, Fisher J, LaBarge M, Ring HZ, Francke U, Reed JC, Kinoshita S, Nolan GP", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "reference": [ { "type": "PubMed", "id": "9586636", "url": "https://glygen.org/publication/PubMed/9586636" } ] } ], "pathway": [ { "id": "hsa:9214", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9214", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A1KXC4-1", "protein_name": "Immunoglobulin mu Fc receptor", "gene_name": "Fcmr", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDFWLWLLYFLPVSGALRVLPEVQLNVEWGGSIIIECPLPQLHVRMYLCRQMAKPGICSTVVSNTFVKKEYERRVTLTPCLDKKLFLVEMTQLTENDDGIYACGVGMKTDKGKTQKITLNVHNEYPEPFWEDEWTSERPRWLHRFLQHQMPWLHGSEHPSSSGVIAKVTTPAPKTEAPPVHQPSSITSVTQHPRVYRAFSVSATKSPALLPATTASKTSTQQAIRPLEASYSHHTRLHEQRTRHHGPHYGREDRGLHIPIPEFHILIPTFLGFLLLVLLGLVVKRAIQRRRASSRRAGRLAMRRRGRGASRPFPTQRRDASQRPRSQNNVYSACPRRARGPDSLGPAEAPLLNAPASASPASPQVLEAPWPHTPSLKMSCEYVSLGYQPAVNLEDPDSDDYINIPDPSHLPSYAPGPRSSCP", "length": 422 }, "evidence": [ { "id": "45933802", "url": "http://www.informatics.jax.org/homology/45933802", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5M871-1", "protein_name": "Immunoglobulin mu Fc receptor", "gene_name": "Fcmr", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNLWLWLLYFLPVSGTLKVLPEVRLEVELGGSVFIECPLPQTHVRMYLCRQMTNPAICATVVSNIFVKKEYKRRVTLKPSLNKKLFLVEMTQLTKDDEGIYACGVGTNTDLGKTQKVTLNVRNEFPEYPEPFWDDEPTSEPSPRWWLHRYPEELPWLKMGEHASPSGFIDKVTTLSPKTEAPPVHQPSTNTSVSRHPRVYGASSETPTKPSALLPATTAFKTSARQASRLLEASYSHHTRLHGERTPHYGSQYGREDRGLHISIPEFHILIPTFLGFLLLVLLGLVVKRAIQRRRAFSRRVGRMARRMRGRGPSRQIPTQRRDAPQRPRSQNNVYSACPRRAREPDNVGSAEALLLNAPASAPPALPLVIETSWPHTPSLKMSCEYVSLGHQPAVNVEDQDSNDYINIPGLPHLPSKPPGPRPSRQ", "length": 426 }, "evidence": [ { "id": "45933802", "url": "http://www.informatics.jax.org/homology/45933802", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "immunoglobulin transcytosis in epithelial cells", "id": "GO:0002414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002414", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002455", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "cellular defense response", "id": "GO:0006968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006968", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "regulation of B cell receptor signaling pathway", "id": "GO:0050855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050855", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "Fc receptor-mediated immune complex endocytosis", "id": "GO:0160006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160006", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "IgM binding", "id": "GO:0001791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001791", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "high-affinity IgM receptor activity", "id": "GO:0002172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002172", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" }, { "name": "polymeric immunoglobulin binding", "id": "GO:0001790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001790", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "Fas apoptotic inhibitory molecule 3 O-glycosylated 1 (human)", "definition": "A Fas apoptotic inhibitory molecule 3 (human) that has been O-glycosylated at the residue equivalent to Thr-224 of the amino acid sequence represented by UniProtKB:O60667-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60667-1, Thr-224, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050795", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050795" } ] } ], "site_annotation": [], "ptm_annotation": [ { "annotation": "O-glycosylated. Sialylated. O-linked glycans regulate trafficking to the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" }, { "database": "PubMed", "id": "21908732", "url": "https://glygen.org/publication/PubMed/21908732" }, { "database": "PubMed", "id": "19858324", "url": "https://glygen.org/publication/PubMed/19858324" } ] }, { "annotation": "Phosphorylated on both Tyr and Ser residues.", "evidence": [ { "database": "UniProtKB", "id": "O60667", "url": "https://www.uniprot.org/uniprot/O60667" }, { "database": "PubMed", "id": "19858324", "url": "https://glygen.org/publication/PubMed/19858324" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 224 ], "snv_sites": [ 177, 224, 389 ], "glycation_sites": [], "phosphorylation_sites": [ 92 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }