{ "uniprot_canonical_ac": "A6NHN0-1", "uniprot_ac": "A6NHN0", "uniprot_id": "OTOL1_HUMAN", "mass": { "chemical_mass": 49422.0, "monoisotopic_mass": 49422.0 }, "refseq": { "ac": "NP_001073909", "name": "otolin-1 precursor", "summary": "This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, "gene_names": [ { "name": "OTOL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NHN0", "id": "A6NHN0" }, { "name": "C1QTNF15; C1QTNF16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "id": "NP_001073909" }, { "name": "OTOL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "id": "NP_001073909" } ], "protein_names": [ { "name": "Otolin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NHN0" }, { "name": "C1q and tumor necrosis factor related protein 15; C1q and TNF related 16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "id": "NP_001073909" }, { "name": "otolin-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "id": "NP_001073909" } ], "function": [ { "annotation": "A potential serological biomarker for inner ear pathologies: OTOLIN-1.", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "36254652", "url": "https://glygen.org/publication/PubMed/36254652" } ] }, { "annotation": "Calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "24748133", "url": "https://glygen.org/publication/PubMed/24748133" } ] }, { "annotation": "Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics.", "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprot/A6NHN0#function" }, { "database": "UniProtKB", "id": "Q4ZJM7", "url": "https://www.uniprot.org/uniprot/Q4ZJM7#function" } ] }, { "annotation": "Identification and functional characterization of a similar protein in zebrafish.", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "15905077", "url": "https://glygen.org/publication/PubMed/15905077" } ] }, { "annotation": "Molecular mechanism of calcium induced trimerization of C1q-like domain of otolin-1 from human and zebrafish. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "34140580", "url": "https://glygen.org/publication/PubMed/34140580" } ] }, { "annotation": "N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1.", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "35447266", "url": "https://glygen.org/publication/PubMed/35447266" } ] }, { "annotation": "Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" }, { "database": "PubMed", "id": "34445792", "url": "https://glygen.org/publication/PubMed/34445792" } ] }, { "annotation": "This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1482408684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1482408684" }, { "id": "rs1482408684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1482408684" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (K->E).", "chr_id": "3", "chr_pos": "161503040", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182273144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182273144" }, { "id": "rs1182273144", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182273144" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (K->N).", "chr_id": "3", "chr_pos": "161503042", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757219875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757219875" }, { "id": "rs757219875", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757219875" }, { "id": "rs757219875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757219875" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 193, "end_pos": 193, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "3", "chr_pos": "161503087", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1186353152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186353152" }, { "id": "rs1186353152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186353152" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 202, "end_pos": 202, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "3", "chr_pos": "161503114", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A6NHN0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NHN0" }, { "id": "rs938912652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938912652" }, { "id": "rs938912652", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938912652" }, { "id": "rs938912652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs938912652#frequency_tab" }, { "id": "rs938912652", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs938912652" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 204, "end_pos": 204, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCT->NCI).", "chr_id": "3", "chr_pos": "161503119", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T204", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs938912652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938912652" }, { "id": "rs938912652", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs938912652#frequency_tab" }, { "id": "rs938912652", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs938912652" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 204, "end_pos": 204, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCN).", "chr_id": "3", "chr_pos": "161503119", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775178170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775178170" }, { "id": "rs775178170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775178170" }, { "id": "rs775178170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775178170" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 22, "end_pos": 22, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "3", "chr_pos": "161496872", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A6NHN0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NHN0" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 24, "end_pos": 24, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTT->NTT).", "chr_id": "3", "chr_pos": "161496879", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K24", "disease": [ { "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": "rs370649390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370649390" }, { "id": "rs370649390", "database": "1000Genomes", 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"No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6NHN0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHN0" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { 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"http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A6NHN0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NHN0" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprot/A6NHN0" } ], "common_name": "Human" } ], "gene": [ { "name": "OTOL1", "url": "https://www.uniprot.org/uniprot/A6NHN0", "locus": { "chromosome": "3", "start_pos": 161503942, "end_pos": 161496808, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000182447", "url": "https://www.ensembl.org/id/ENSG00000182447" } ] } } ], "crossref": [ { "id": "ENSG00000182447", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182447", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6NHN0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NHN0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "OTOL1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOL1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "131149", "url": "https://www.ncbi.nlm.nih.gov/gene/131149", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "34071", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34071", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A6NHN0", "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NHN0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001073", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001073", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008983", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008983", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:131149", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:131149", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A6NHN0", "url": "https://www.nextprot.org/entry/NX_A6NHN0", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "ITGKFNC", "url": "https://omabrowser.org/oma/group/ITGKFNC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5361349at2759", "url": "http://www.orthodb.org/?query=5361349at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15427", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15427", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15427:SF33", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15427:SF33", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00386", "url": "http://pfam.xfam.org/family/PF00386", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01391", "url": "http://pfam.xfam.org/family/PF01391", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NHN0", "url": "https://pharos.nih.gov/targets/A6NHN0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NHN0", "url": "http://purl.obolibrary.org/obo/PR_A6NHN0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A6NHN0", "url": "https://www.uniprot.org/uniprot/A6NHN0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NHN0-1", "url": "https://www.uniprot.org/uniprot/A6NHN0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWMFSWLCAILIILAIAGMNTIAKTTPHTKFTKKSEEREMPKGLKPSSGPPPEEEETLFTEMAEMAEPITKPSALDSVFGTATLSPFENFTLDPADFFLNCCDCCSPVPGQKGEPGETGQPGPKGEAGNLGIPGPPGVVGPQGPRGYKGEKGLKGERGDQGVPGYPGKPGAQGEPGPKGDKGNIGLGGVKGQKGSKGDTCGNCTKGEKGDQGAMGSPGLHGGPGAKGEKGEMGEKGEMGDKGCCGDSGERGGKGQKGEGGMKGEKGSKGDSGMEGKSGRNGLPGAKGDPGIKGEKGELGPPGLLGPTGPKGDIGNKGVRGPTGKKGSRGFKGSKGELARVPRSAFSAGLSKPFPPPNIPIKFEKILYNDQGNYSPVTGKFNCSIPGTYVFSYHITVRGRPARISLVAQNKKQFKSRETLYGQEIDQASLLVILKLSAGDQVWLEVSKDWNGVYVSAEDDSIFTGFLLYPEETSGISP", "length": 477, "header": "sp|A6NHN0-1|OTOL1_HUMAN Isoform 1 of Otolin-1 OS=Homo sapiens OX=9606 GN=OTOL1 PE=3 SV=1 CANONICAL=A6NHN0-1" }, "isoforms": [ { "isoform_ac": "A6NHN0-1", "url": "", "sequence": { "sequence": "MWMFSWLCAILIILAIAGMNTIAKTTPHTKFTKKSEEREMPKGLKPSSGPPPEEEETLFTEMAEMAEPITKPSALDSVFGTATLSPFENFTLDPADFFLNCCDCCSPVPGQKGEPGETGQPGPKGEAGNLGIPGPPGVVGPQGPRGYKGEKGLKGERGDQGVPGYPGKPGAQGEPGPKGDKGNIGLGGVKGQKGSKGDTCGNCTKGEKGDQGAMGSPGLHGGPGAKGEKGEMGEKGEMGDKGCCGDSGERGGKGQKGEGGMKGEKGSKGDSGMEGKSGRNGLPGAKGDPGIKGEKGELGPPGLLGPTGPKGDIGNKGVRGPTGKKGSRGFKGSKGELARVPRSAFSAGLSKPFPPPNIPIKFEKILYNDQGNYSPVTGKFNCSIPGTYVFSYHITVRGRPARISLVAQNKKQFKSRETLYGQEIDQASLLVILKLSAGDQVWLEVSKDWNGVYVSAEDDSIFTGFLLYPEETSGISP", "length": 477, "header": "sp|A6NHN0-1|OTOL1_HUMAN Isoform 1 of Otolin-1 OS=Homo sapiens OX=9606 GN=OTOL1 PE=3 SV=1 CANONICAL=A6NHN0-1" }, "locus": { "chromosome": "3", "start_pos": 161503939, "end_pos": 161496808, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327928.4", "url": "https://www.ensembl.org/id/ENST00000327928.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000330808.4", "url": "https://www.ensembl.org/id/ENSP00000330808.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 178, "start_aa": "Lys", "end_pos": 178, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys178", "evidence": [ { "id": "A6NHN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHN0#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "A6NHN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHN0#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 310, "start_aa": "Lys", "end_pos": 310, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys310", "evidence": [ { "id": "A6NHN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHN0#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 381, "start_aa": "Asn", "end_pos": 381, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn381", "evidence": [ { "id": "A6NHN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHN0#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 267, "end_pos": 267, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A6NHN0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NHN0" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser267" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Otolith matrix proteins OMP-1 and Otolin-1 are necessary for normal otolith growth and their correct anchoring onto the sensory maculae.", "journal": "Mechanisms of development", "date": "2005", "authors": "Murayama E, Herbomel P, Kawakami A, Takeda H, Nagasawa H", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "15905077", "url": "https://glygen.org/publication/PubMed/15905077" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "A6NHN0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NHN0" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90.", "journal": "PloS one", "date": "2014", "authors": "Moreland KT, Hong M, Lu W, Rowley CW, Ornitz DM, De Yoreo JJ, Thalmann R", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "24748133", "url": "https://glygen.org/publication/PubMed/24748133" } ] }, { "title": "Molecular mechanism of calcium induced trimerization of C1q-like domain of otolin-1 from human and zebrafish.", "journal": "Scientific reports", "date": "2021", "authors": "Holubowicz R, Ozyhar A, Dobryszycki P", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "34140580", "url": "https://glygen.org/publication/PubMed/34140580" } ] }, { "title": "Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Holubowicz R, Ozyhar A, Dobryszycki P", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "34445792", "url": "https://glygen.org/publication/PubMed/34445792" } ] }, { "title": "N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1.", "journal": "International journal of biological macromolecules", "date": "2022", "authors": "Bielak K, Holubowicz R, Zoglowek A, Zak A, Kedzierski P, Ozyhar A, Dobryszycki P", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "35447266", "url": "https://glygen.org/publication/PubMed/35447266" } ] }, { "title": "A potential serological biomarker for inner ear pathologies: OTOLIN-1.", "journal": "Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale", "date": "2022-08", "authors": "Avallone Emilio, Schmitt Heike, Lilli Giorgio, Warnecke Athanasia, Lesinski-Schiedat Anke, Lenarz Thomas, Willenborg Kerstin", "evidence": [ { "database": "RefSeq", "id": "NP_001073909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073909" } ], "reference": [ { "type": "PubMed", "id": "36254652", "url": "https://glygen.org/publication/PubMed/36254652" } ] } ], "pathway": [ { "id": "hsa:131149", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:131149", "resource": "KEGG Pathway" 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "A6NHN0", "url": "https://www.uniprot.org/uniprot/A6NHN0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 202, "end_pos": 204, "annotation": "n_glycosylation_sequon" }, { "start_pos": 372, "end_pos": 374, "annotation": "n_glycosylation_sequon" }, { "start_pos": 381, "end_pos": 383, "annotation": "n_glycosylation_sequon" }, { "start_pos": 89, "end_pos": 91, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 202, 381 ], "o_linked_sites": [ 178, 310 ], "snv_sites": [ 22, 24, 178, 193, 202, 204, 265, 278, 325, 328, 331, 359, 381, 383, 402 ], 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