{ "uniprot_canonical_ac": "O60393-1", "uniprot_ac": "O60393", "uniprot_id": "NOBOX_HUMAN", "mass": { "chemical_mass": 73906.0, "monoisotopic_mass": 73906.0 }, "refseq": { "ac": "NP_001073882", "name": "homeobox protein NOBOX", "summary": "This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, "gene_names": [ { "name": "NOBOX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60393", "id": "O60393" }, { "name": "NOBOX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882", "id": "NP_001073882" }, { "name": "OG-2; OG2; OG2X; POF5; TCAG_12042", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882", "id": "NP_001073882" } ], "protein_names": [ { "name": "Homeobox protein NOBOX", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60393" }, { "name": "homeobox protein NOBOX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882", "id": "NP_001073882" }, { "name": "newborn ovary homeobox-encoding", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882", "id": "NP_001073882" } ], "function": [ { "annotation": "Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "34480423", "url": "https://glygen.org/publication/PubMed/34480423" } ] }, { "annotation": "Mutations of the homeobox region of the NOBOX gene are uncommon in Japanese patients with premature ovarian failure.", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "15950662", "url": "https://glygen.org/publication/PubMed/15950662" } ] }, { "annotation": "NOBOX expression within adult human tissues is limited to the testis, pancreas and oocyte specific in ovary.", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "16597639", "url": "https://glygen.org/publication/PubMed/16597639" } ] }, { "annotation": "NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "37921973", "url": "https://glygen.org/publication/PubMed/37921973" } ] }, { "annotation": "One novel homozygous truncating variant, chr7:144098161delC, in the NOBOX gene was found in a primary ovarian insufficiency patient. The truncating variant showed a severe defect in transcriptional activation of GDF9 a well-known target of NOBOX. Many oocyte-related genes were expressed at lower level in truncating variant cells than in control cells. We found the truncated NOBOX lost its ability to induced G2/M arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "27836978", "url": "https://glygen.org/publication/PubMed/27836978" } ] }, { "annotation": "RSPO2 is a novel target gene of the NOBOX key transcription factor, confirming its important role during the follicular growth in ovary. However, RSPO2 mutations are rare or uncommon in women with primary ovarian insufficiency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "28743298", "url": "https://glygen.org/publication/PubMed/28743298" } ] }, { "annotation": "This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ] }, { "annotation": "Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'.", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393#function" }, { "database": "PubMed", "id": "25514101", "url": "https://glygen.org/publication/PubMed/25514101" }, { "database": "PubMed", "id": "27798098", "url": "https://glygen.org/publication/PubMed/27798098" } ] }, { "annotation": "We report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" }, { "database": "PubMed", "id": "29067606", "url": "https://glygen.org/publication/PubMed/29067606" } ] } ], "disease": [ { "disease_id": "DOID:0080862", "recommended_name": { "id": "DOID:0080862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080862", "name": "primary ovarian insufficiency 5", "description": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35." }, "synonyms": [ { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure 5", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "NOBOX primary ovarian failure", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure 5", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure type 5", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "primary ovarian failure caused by mutation in NOBOX", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "Pof5", "description": "" }, { "id": "MIM:611548", "resource": "MIM", "url": "https://www.omim.org/entry/611548", "name": "Premature ovarian failure 5", "description": "Premature ovarian failure 5" } ], "evidence": [ { "id": "611548", "database": "MIM", "url": "https://www.omim.org/entry/611548" } ] } ], "snv": [ { "evidence": [ { "id": "O60393", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60393" } ], "glycoeffect": [], "start_pos": 107, "end_pos": 107, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "144401570", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A107", "disease": [ { "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": "" } ] }, { "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60393", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60393" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "144399832", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R360", "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 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"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: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. 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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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60393", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60393" } ], "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": 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"https://www.uniprot.org/uniprot/A0A2R8Y4G1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y683", "url": "https://www.uniprot.org/uniprot/A0A2R8Y683", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y683-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y683-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y8C8", "url": "https://www.uniprot.org/uniprot/A0A2R8Y8C8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y8C8-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y8C8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEW3", "url": "https://www.uniprot.org/uniprot/A0A2R8YEW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEW3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YEW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60393-1", "url": "https://www.uniprot.org/uniprot/O60393-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60393-2", "url": "https://www.uniprot.org/uniprot/O60393-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCALETLKSPQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVKGAGSLVAGWSGGGPTIETLELQSERSAVAWVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 691, "header": "sp|O60393-1|NOBOX_HUMAN Isoform 1 of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=4 CANONICAL=O60393-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4G1-1", "url": "", "sequence": { "sequence": "MEPTENPCQGPLGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPLQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 574, "header": "tr|A0A2R8Y4G1-1|A0A2R8Y4G1_HUMAN Computationally mapped isoform of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=1 CANONICAL=O60393-1" }, "locus": { "chromosome": "HSCHR7_3_CTG4_4", "start_pos": 453156, "end_pos": 446710, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646309.2", "url": "https://www.ensembl.org/id/ENST00000646309.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496425.2", "url": "https://www.ensembl.org/id/ENSP00000496425.2" } ] } }, { "isoform_ac": "A0A2R8Y683-1", "url": "", "sequence": { "sequence": "MEPTENPCQGPLDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCL", "length": 300, "header": "tr|A0A2R8Y683-1|NOBOX_HUMAN Computationally mapped isoform of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=1 CANONICAL=O60393-1" }, "locus": { "chromosome": "7", "start_pos": 144403693, "end_pos": 144397513, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643164.1", "url": "https://www.ensembl.org/id/ENST00000643164.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495343.1", "url": "https://www.ensembl.org/id/ENSP00000495343.1" } ] } }, { "isoform_ac": "A0A2R8Y8C8-1", "url": "", "sequence": { "sequence": "MEPTENPCQGPLGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 574, "header": "tr|A0A2R8Y8C8-1|A0A2R8Y8C8_HUMAN Computationally mapped isoform of NOBOX oogenesis homeobox OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=1 CANONICAL=O60393-1" }, "locus": { "chromosome": "7", "start_pos": 144403693, "end_pos": 144397243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645489.1", "url": "https://www.ensembl.org/id/ENST00000645489.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496732.1", "url": "https://www.ensembl.org/id/ENSP00000496732.1" } ] } }, { "isoform_ac": "A0A2R8YEW3-1", "url": "", "sequence": { "sequence": "MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCALETLKSPQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVKGAGSLVAGWSGGGPTIETLELQSERSAVAWVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPLQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 691, "header": "tr|A0A2R8YEW3-1|A0A2R8YEW3_HUMAN Computationally mapped isoform of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=1 CANONICAL=O60393-1" }, "locus": { "chromosome": "HSCHR7_3_CTG4_4", "start_pos": 459685, "end_pos": 446710, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643277.2", "url": "https://www.ensembl.org/id/ENST00000643277.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000494653.1", "url": "https://www.ensembl.org/id/ENSP00000494653.1" } ] } }, { "isoform_ac": "O60393-1", "url": "", "sequence": { "sequence": "MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCALETLKSPQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVKGAGSLVAGWSGGGPTIETLELQSERSAVAWVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 691, "header": "sp|O60393-1|NOBOX_HUMAN Isoform 1 of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=4 CANONICAL=O60393-1" }, "locus": { "chromosome": "7", "start_pos": 144410227, "end_pos": 144397243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467773.1", "url": "https://www.ensembl.org/id/ENST00000467773.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419457.1", "url": "https://www.ensembl.org/id/ENSP00000419457.1" } ] } }, { "isoform_ac": "O60393-2", "url": "", "sequence": { "sequence": "MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCALETLKSPQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSDKRREIAQTVGVTPQRIMVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLLSKAKEEPPAASLDQPSALEEARGDDKNSHVP", "length": 659, "header": "sp|O60393-2|NOBOX_HUMAN Isoform 2 of Homeobox protein NOBOX OS=Homo sapiens OX=9606 GN=NOBOX PE=1 SV=4 CANONICAL=O60393-1" }, "locus": { "chromosome": "7", "start_pos": 144410227, "end_pos": 144397243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483238.5", "url": "https://www.ensembl.org/id/ENST00000483238.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419565.1", "url": "https://www.ensembl.org/id/ENSP00000419565.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60393", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60393" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure.", "journal": "Fertility and sterility", "date": "2005", "authors": "Zhao XX, Suzumori N, Yamaguchi M, Suzumori K", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "15950662", "url": "https://glygen.org/publication/PubMed/15950662" } ] }, { "title": "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles.", "journal": "Mol. Hum. Reprod.", "date": "2006", "authors": "Huntriss J, Hinkins M, Picton HM", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" }, { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "16597639", "url": "https://glygen.org/publication/PubMed/16597639" } ] }, { "title": "NOBOX homeobox mutation causes premature ovarian failure.", "journal": "American journal of human genetics", "date": "2007", "authors": "Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "reference": [ { "type": "PubMed", "id": "17701902", "url": "https://glygen.org/publication/PubMed/17701902" } ] }, { "title": "Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.", "journal": "Human mutation", "date": "2011", "authors": "Bouilly J, Bachelot A, Broutin I, Touraine P, Binart N", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "reference": [ { "type": "PubMed", "id": "21837770", "url": "https://glygen.org/publication/PubMed/21837770" } ] }, { "title": "New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2015", "authors": "Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, Dode C, Bouligand J, Mantel AG, Hecart AC, Delemer B, Young J, Binart N", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "reference": [ { "type": "PubMed", "id": "25514101", "url": "https://glygen.org/publication/PubMed/25514101" } ] }, { "title": "Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.", "journal": "Human molecular genetics", "date": "2016", "authors": "Ferrari I, Bouilly J, Beau I, Guizzardi F, Ferlin A, Pollazzon M, Salerno M, Binart N, Persani L, Rossetti R", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "reference": [ { "type": "PubMed", "id": "27798098", "url": "https://glygen.org/publication/PubMed/27798098" } ] }, { "title": "A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.", "journal": "Human reproduction (Oxford, England)", "date": "2017", "authors": "Li L, Wang B, Zhang W, Chen B, Luo M, Wang J, Wang X, Cao Y, Kee K", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "27836978", "url": "https://glygen.org/publication/PubMed/27836978" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60393", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60393" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.", "journal": "Journal of ovarian research", "date": "2017", "authors": "Bouilly J, Beau I, Barraud S, Bernard V, Delemer B, Young J, Binart N", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "28743298", "url": "https://glygen.org/publication/PubMed/28743298" } ] }, { "title": "A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.", "journal": "Endocrine", "date": "2017", "authors": "Franca MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "29067606", "url": "https://glygen.org/publication/PubMed/29067606" } ] }, { "title": "Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.", "journal": "Molecular genetics & genomic medicine", "date": "2021", "authors": "Sassi A, Desir J, Duerinckx S, Soblet J, Van Dooren S, Bonduelle M, Abramowicz M, Delbaere A", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "34480423", "url": "https://glygen.org/publication/PubMed/34480423" } ] }, { "title": "NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.", "journal": "Journal of assisted reproduction and genetics", "date": "2024-01", "authors": "Jordan P\u00e9n\u00e9lope, Verebi Camille, Perol Sandrine, Grotto Sarah, Fouveaut Corinne, Christin-Maitre Sophie, de la Perri\u00e8re Aude Brac, Grouthier Virginie, Jonard-Catteau Sophie, Touraine Philippe, Plu-Bureau Genevi\u00e8ve, Dupont Jean Michel, El Khattabi Laila, Bienvenu Thierry", "evidence": [ { "database": "RefSeq", "id": "NP_001073882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073882" } ], "reference": [ { "type": "PubMed", "id": "37921973", "url": "https://glygen.org/publication/PubMed/37921973" } ] } ], "pathway": [ { "id": "hsa:135935", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:135935", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZXL8-1", "protein_name": "NOBOX oogenesis homeobox", "gene_name": "Nobox", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEPPEKLCRKMRGQEAGDKPRTAAQDTEGPPQDPAPLVQGDPDKLSSLPRAGLGKRPLSKTSGDCIDADTCRVHTAPSPAVCSPKPQKKGSSLQEKKAETVKPSMSAGPGQVPNPLNFRERDLKKEPLEATCQFRKKTRTLYRSDQLEELERIFQEDHYPDSDKRHEIAQMVGVTPQRIMVWFQNRRAKWRKVEKLNEKEDNNGPAPPRANSSQCRSAPELLGPMPTDLEPGPVPPENILDGFTEPPVLLTSDQTLTSSQHNESAERVAVTPPLLSPPPIRRTNLPLPLGPFQAPQVLPPLRDVPGSDSIYKDKPCGSWGTSITSPPIYSNLEDMGPQDYQASNQLGSFQLTQAPQTPLFPPLQSQVPYLPPFPLPIPSPLPFLPPEDSLFSFPFGLNGDSSQDYYPGPQSGQILLQPTAGNTGPGPWSGHCLPEPPFPRPHHPQGHPLGAEGYFPDLFPTPCAPTLSKQPSLGLSGLLGGTRAVTGTSISKMPDEQTSSSLEQPAPEEVRDKNKDSQVGGAKE", "length": 524 }, "evidence": [ { "id": "45932107", "url": "http://www.informatics.jax.org/homology/45932107", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8VIH1-1", "protein_name": "Homeobox protein NOBOX", "gene_name": "Nobox", "tax_id": 10090, "organism": "Mus 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"https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "O60393", "url": "https://www.uniprot.org/uniprot/O60393" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "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": [], "snv_sites": [ 107, 360 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { 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"frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }