{ "uniprot_canonical_ac": "Q92622-1", "uniprot_ac": "Q92622", "uniprot_id": "RUBIC_HUMAN", "mass": { "chemical_mass": 108622.0, "monoisotopic_mass": 108622.0 }, "refseq": { "ac": "NP_001139114", "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 1", "summary": "The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, "gene_names": [ { "name": "RUBCN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q92622", "id": "Q92622" }, { "name": "KIAA0226; RUBICON; SCAR15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114", "id": "NP_001139114" }, { "name": "KIAA0226", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92622", "id": "Q92622" }, { "name": "RUBCN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114", "id": "NP_001139114" } ], "protein_names": [ { "name": "Run domain Beclin-1-interacting and cysteine-rich domain-containing protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q92622" }, { "name": "Baron", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92622" }, { "name": "Beclin-1 associated RUN domain containing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92622" }, { "name": "Rubicon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92622" }, { "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114", "id": "NP_001139114" }, { "name": "rundataxin; baron; beclin-1 associated RUN domain containing protein; RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein; RUN and cysteine rich domain containing beclin 1 interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114", "id": "NP_001139114" } ], "function": [ { "annotation": "Epigenome-wide three-way interaction study identifies a complex pattern between TRIM27, KIAA0226, and smoking associated with overall survival of early-stage NSCLC.", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, { "database": "PubMed", "id": "34932879", "url": "https://glygen.org/publication/PubMed/34932879" } ] }, { "annotation": "Hepatitis C virus enhances Rubicon expression, leading to autophagy inhibition and intracellular innate immune activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, { "database": "PubMed", "id": "32943718", "url": "https://glygen.org/publication/PubMed/32943718" } ] }, { "annotation": "Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745).", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622#function" }, { "database": "PubMed", "id": "20974968", "url": "https://glygen.org/publication/PubMed/20974968" }, { "database": "PubMed", "id": "21062745", "url": "https://glygen.org/publication/PubMed/21062745" } ] }, { "annotation": "Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or RIGI-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967).", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622#function" }, { "database": "PubMed", "id": "22423967", "url": "https://glygen.org/publication/PubMed/22423967" }, { "database": "PubMed", "id": "22423966", "url": "https://glygen.org/publication/PubMed/22423966" } ] }, { "annotation": "Neuronal Rubicon Represses Extracellular APP/Amyloid beta Deposition in Alzheimer's Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, { "database": "PubMed", "id": "35740989", "url": "https://glygen.org/publication/PubMed/35740989" } ] }, { "annotation": "The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" } ] }, { "annotation": "This study demonistrated that KIAA0226 mutation impairs Rubicon endosomal localization", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, { "database": "PubMed", "id": "23728897", "url": "https://glygen.org/publication/PubMed/23728897" } ] }, { "annotation": "Two Beclin 1 associated proteins, Atg14L and Rubicon, were identified.", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" }, { "database": "PubMed", "id": "19270696", "url": "https://glygen.org/publication/PubMed/19270696" } ] } ], "disease": [ { "disease_id": "DOID:0080057", "recommended_name": { "id": "DOID:0080057", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080057", "name": "autosomal recessive spinocerebellar ataxia 15", "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29." }, "synonyms": [ { "id": "DOID:0080057", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080057", "name": "SCAR15", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive spinocerebellar ataxia 15", "description": "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "SCAR15", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive spinocerebellar ataxia type 15", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "spinocerebellar ataxia, autosomal recessive type 15", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "Salih ataxia", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency", "description": "" }, { "id": "MONDO:0014311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014311", "name": "spinocerebellar ataxia, autosomal recessive 15", "description": "" }, { "id": "MIM:615705", "resource": "MIM", "url": "https://www.omim.org/entry/615705", "name": "Spinocerebellar ataxia, autosomal recessive, 15", "description": "Spinocerebellar ataxia, autosomal recessive, 15" } ], "evidence": [ { "id": "615705", "database": "MIM", "url": "https://www.omim.org/entry/615705" } ] } ], "snv": [ { "evidence": [ { "id": "Q92622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92622" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 410, "end_pos": 410, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "197700645", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S410", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q92622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92622" } ], "glycoeffect": [], "start_pos": 542, "end_pos": 542, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "197694435", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R542", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q92622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92622" } ], "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/Q92622" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q92622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92622" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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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": 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"MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT", "length": 972, "header": "sp|Q92622-1|RUBIC_HUMAN Isoform 1 of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=4 CANONICAL=Q92622-1" }, "isoforms": [ { "isoform_ac": "A0A096LNI3-1", "url": "", "sequence": { "sequence": "MLQCLEAVEQNNPRLLAQIDASMF", "length": 24, "header": "tr|A0A096LNI3-1|A0A096LNI3_HUMAN Computationally mapped isoform of Rubicon autophagy regulator OS=Homo sapiens OX=9606 GN=RUBCN PE=4 SV=6 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197703616, "end_pos": 197701862, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474214.2", "url": "https://www.ensembl.org/id/ENST00000474214.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485041.1", "url": "https://www.ensembl.org/id/ENSP00000485041.1" } ] } }, { "isoform_ac": "A0A9L9PY84-1", "url": "", "sequence": { "sequence": "MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPGGPRNITIIVEDPIAESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDGSEGSNLTHISKNGLSVSLASMFSDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT", "length": 1011, "header": "tr|A0A9L9PY84-1|A0A9L9PY84_HUMAN Computationally mapped isoform of Rubicon autophagy regulator OS=Homo sapiens OX=9606 GN=RUBCN PE=4 SV=1 CANONICAL=Q92622-1" }, "locus": {} }, { "isoform_ac": "E9PEM3-1", "url": "", "sequence": { "sequence": "MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPGNEEHRLLVSKMTLN", "length": 435, "header": "tr|E9PEM3-1|E9PEM3_HUMAN Computationally mapped isoform of Rubicon autophagy regulator OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=1 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197736719, "end_pos": 197700569, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449205.1", "url": "https://www.ensembl.org/id/ENST00000449205.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390962.1", "url": "https://www.ensembl.org/id/ENSP00000390962.1" } ] } }, { "isoform_ac": "H0Y6E6-1", "url": "", "sequence": { "sequence": "XREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPGGPRNITIIVEDPIAEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT", "length": 934, "header": "tr|H0Y6E6-1|RUBIC_HUMAN Computationally mapped isoform of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=1 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197718130, "end_pos": 197675019, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413360.5", "url": "https://www.ensembl.org/id/ENST00000413360.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405115.1", "url": "https://www.ensembl.org/id/ENSP00000405115.1" } ] } }, { "isoform_ac": "H7C357-1", "url": "", "sequence": { "sequence": "XERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDGSEGSNLTHISKNGLSVSLASMFSDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMVRKSHCSMQLSPCF", "length": 680, "header": "tr|H7C357-1|H7C357_HUMAN Computationally mapped isoform of Rubicon autophagy regulator OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=1 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197701710, "end_pos": 197676842, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415452.5", "url": "https://www.ensembl.org/id/ENST00000415452.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409618.1", "url": "https://www.ensembl.org/id/ENSP00000409618.1" } ] } }, { "isoform_ac": "H7C3H3-1", "url": "", "sequence": { "sequence": "LGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIR", "length": 147, "header": "tr|H7C3H3-1|RUBIC_HUMAN Computationally mapped isoform of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=1 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197700769, "end_pos": 197694418, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447048.1", "url": "https://www.ensembl.org/id/ENST00000447048.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411894.1", "url": "https://www.ensembl.org/id/ENSP00000411894.1" } ] } }, { "isoform_ac": "Q92622-1", "url": "", "sequence": { "sequence": "MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT", "length": 972, "header": "sp|Q92622-1|RUBIC_HUMAN Isoform 1 of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=4 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197736719, "end_pos": 197675021, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296343.10", "url": "https://www.ensembl.org/id/ENST00000296343.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000296343.5", "url": "https://www.ensembl.org/id/ENSP00000296343.5" } ] } }, { "isoform_ac": "Q92622-2", "url": "", "sequence": { "sequence": "MQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPGGPRNITIIVEDPIAESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDIIFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT", "length": 927, "header": "sp|Q92622-2|RUBIC_HUMAN Isoform 2 of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=4 CANONICAL=Q92622-1" }, "locus": { "chromosome": "3", "start_pos": 197718015, "end_pos": 197675021, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000273582.9", "url": "https://www.ensembl.org/id/ENST00000273582.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000273582.5", "url": "https://www.ensembl.org/id/ENSP00000273582.5" } ] } }, { "isoform_ac": "Q92622-3", "url": "", "sequence": { "sequence": "MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLTSPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDGSEGSNLTHISKNGLSVSLASMFSDADIRRNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMVRKSHCSMQLSPCF", "length": 921, "header": "sp|Q92622-3|RUBIC_HUMAN Isoform 3 of Run domain Beclin-1-interacting and cysteine-rich domain-containing protein OS=Homo sapiens OX=9606 GN=RUBCN PE=1 SV=4 CANONICAL=Q92622-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 197, "end_pos": 197, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser197" }, { "start_pos": 248, "end_pos": 248, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser248" }, { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser266" }, { "start_pos": 272, "end_pos": 272, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr272" }, { "start_pos": 388, "end_pos": 388, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser388" }, { "start_pos": 410, "end_pos": 410, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser410" }, { "start_pos": 44, "end_pos": 44, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "31752345", "url": "https://glygen.org/publication/PubMed/31752345" } ], "site_lbl": "Ser44" }, { "start_pos": 528, "end_pos": 528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser528" }, { "start_pos": 562, "end_pos": 562, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser562" }, { "start_pos": 577, "end_pos": 577, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser577" }, { "start_pos": 581, "end_pos": 581, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser581" }, { "start_pos": 583, "end_pos": 583, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser583" }, { "start_pos": 585, "end_pos": 585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser585" }, { "start_pos": 667, "end_pos": 667, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser667" }, { "start_pos": 671, "end_pos": 671, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "site_lbl": "Ser671" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" }, { "database": "PubMed", "id": "31752345", "url": "https://glygen.org/publication/PubMed/31752345" } ], "site_lbl": "Ser92" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, 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Biol. Cell", "date": "2010", "authors": "Tabata K, Matsunaga K, Sakane A, Sasaki T, Noda T, Yoshimori T", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" } ], "reference": [ { "type": "PubMed", "id": "20943950", "url": "https://glygen.org/publication/PubMed/20943950" } ] }, { "title": "Rubicon controls endosome maturation as a Rab7 effector.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Sun Q., Zhong Q., Tan I., Westphal W., Wong K.N.", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" } ], "reference": [ { "type": "PubMed", "id": "20974968", "url": "https://glygen.org/publication/PubMed/20974968" } ] }, { "title": "The RUN domain of rubicon is important for hVps34 binding, lipid kinase inhibition, and autophagy suppression.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Sun Q, Zhang J, Fan W, Wong KN, Ding X, Chen S, Zhong Q", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" } ], "reference": [ { "type": "PubMed", "id": "21062745", "url": "https://glygen.org/publication/PubMed/21062745" } ] }, { "title": "Autophagy protein Rubicon mediates phagocytic NADPH oxidase activation in response to microbial infection or TLR stimulation.", "journal": "Cell Host Microbe", "date": "2012", "authors": "Lee J.Y., Lee J.S., Liang C., Kim H.J., Lee K.H., Yue Z., Min C.K., Jung J.U., Kim C.J., Yang C.S., Oh B., Zandi E., Kramnik I., Rodgers M.", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" } ], "reference": [ { "type": "PubMed", "id": "22423966", "url": "https://glygen.org/publication/PubMed/22423966" } ] }, { "title": "The autophagy regulator Rubicon is a feedback inhibitor of CARD9-mediated host innate immunity.", "journal": "Cell Host Microbe", "date": "2012", "authors": "Yang CS, Rodgers M, Min CK, Lee JS, Kingeter L, Lee JY, Jong A, Kramnik I, Lin X, Jung JU", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" } ], "reference": [ { "type": "PubMed", "id": "22423967", "url": "https://glygen.org/publication/PubMed/22423967" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q92622", "url": "https://www.uniprot.org/uniprot/Q92622" }, { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "The Salih ataxia mutation impairs Rubicon endosomal localization.", "journal": "Cerebellum (London, England)", "date": "2013", "authors": "Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M", "evidence": [ { "database": "RefSeq", "id": "NP_001139114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139114" } ], "reference": [ { "type": "PubMed", "id": "23728897", "url": "https://glygen.org/publication/PubMed/23728897" } ] }, { "title": "HUNK Phosphorylates Rubicon to Support Autophagy.", "journal": "International journal of molecular sciences", "date": "2019", "authors": "Zambrano JN, Eblen ST, Abt M, Rhett JM, Muise-Helmericks R, Yeh ES", "evidence": [ { "database": "iPTMnet", "id": "Q92622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92622" } ], "reference": [ { "type": "PubMed", "id": "31752345", "url": "https://glygen.org/publication/PubMed/31752345" } ] }, { "title": "Hepatitis C virus enhances Rubicon expression, leading to autophagy inhibition and intracellular innate 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