{ "uniprot_canonical_ac": "O95631-1", "uniprot_ac": "O95631", "uniprot_id": "NET1_HUMAN", "mass": { "chemical_mass": 67748.0, "monoisotopic_mass": 67748.0 }, "refseq": { "ac": "NP_004813", "name": "netrin-1 precursor", "summary": "Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, "gene_names": [ { "name": "NTN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95631", "id": "O95631" }, { "name": "MRMV4; NET1; NTN1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813", "id": "NP_004813" }, { "name": "NTN1L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95631", "id": "O95631" }, { "name": "NTN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813", "id": "NP_004813" } ], "protein_names": [ { "name": "Netrin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95631" }, { "name": "Epididymis tissue protein Li 131P", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95631" }, { "name": "netrin 1, mouse, homolog of; Netrin-1; epididymis tissue protein Li 131P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813", "id": "NP_004813" }, { "name": "netrin-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813", "id": "NP_004813" } ], "function": [ { "annotation": "Activation of vascular endothelial cells by synovial fibrosis promotes Netrin-1-induced sensory nerve sprouting and exacerbates pain sensitivity.", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, { "database": "PubMed", "id": "37702437", "url": "https://glygen.org/publication/PubMed/37702437" } ] }, { "annotation": "Differential expression of PLAC1 and Netrin-1 in liver metastasis of colorectal cancer and its predictive value. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, { "database": "PubMed", "id": "37568074", "url": "https://glygen.org/publication/PubMed/37568074" } ] }, { "annotation": "Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, { "database": "PubMed", "id": "37153740", "url": "https://glygen.org/publication/PubMed/37153740" } ] }, { "annotation": "Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" } ] }, { "annotation": "Netrin-1 controls inflammation in response to ischemic stroke through altering microglia phenotype. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, { "database": "PubMed", "id": "37388740", "url": "https://glygen.org/publication/PubMed/37388740" } ] }, { "annotation": "Netrin-1 inducing antiapoptotic effect of acute myeloid leukemia cells in a concentration-dependent manner through the Unc-5 netrin receptor B-focal adhesion kinase axis.", "evidence": [ { "database": "RefSeq", "id": "NP_004813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004813" }, { "database": "PubMed", "id": "37038247", "url": "https://glygen.org/publication/PubMed/37038247" } ] }, { "annotation": "Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335).", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631#function" }, { "database": "PubMed", "id": "15343335", "url": "https://glygen.org/publication/PubMed/15343335" }, { "database": "PubMed", "id": "28483977", "url": "https://glygen.org/publication/PubMed/28483977" } ] } ], "disease": [ { "disease_id": "MONDO:0032641", "recommended_name": { "id": "MONDO:0032641", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032641", "name": "mirror movements 4", "description": "" }, "synonyms": [ { "id": "MONDO:0032641", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032641", "name": "MIRROR MOVEMENTS 4", "description": "" }, { "id": "MONDO:0032641", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032641", "name": "MRMV4", "description": "" }, { "id": "MIM:618264", "resource": "MIM", "url": "https://www.omim.org/entry/618264", "name": "Mirror movements 4", "description": "Mirror movements 4" } ], "evidence": [ { "id": "618264", "database": "MIM", "url": "https://www.omim.org/entry/618264" } ] } ], "snv": [ { "evidence": [ { "id": "rs1420370454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420370454" }, { "id": "rs1420370454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420370454" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "17", "chr_pos": "9022721", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1417519830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417519830" }, { "id": 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passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "17", "chr_pos": "9023079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95631", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95631" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 372, "end_pos": 372, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NCR->NCS).", "chr_id": "17", "chr_pos": "9162908", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R372", "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": 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"keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776507980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776507980" }, { "id": "rs776507980", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776507980" }, { "id": "rs776507980", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776507980" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 417, "end_pos": 417, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "17", "chr_pos": "9179849", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1597522562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1597522562" }, { "id": "rs1597522562", "database": "ENSEMBL", "url": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"" }, { "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": 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"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 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"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" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95631" } ], "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": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95631" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95631", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95631" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": 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"https://www.uniprot.org/uniprot/O95631-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMRAVWEALAALAAVACLVGAVRGGPGLSMFAGQAAQPDPCSDENGHPRRCIPDFVNAAFGKDVRVSSTCGRPPARYCVVSERGEERLRSCHLCNASDPKKAHPPAFLTDLNNPHNLTCWQSENYLQFPHNVTLTLSLGKKFEVTYVSLQFCSPRPESMAIYKSMDYGRTWVPFQFYSTQCRKMYNRPHRAPITKQNEQEAVCTDSHTDMRPLSGGLIAFSTLDGRPSAHDFDNSPVLQDWVTATDIRVAFSRLHTFGDENEDDSELARDSYFYAVSDLQVGGRCKCNGHAARCVRDRDDSLVCDCRHNTAGPECDRCKPFHYDRPWQRATAREANECVACNCNLHARRCRFNMELYKLSGRKSGGVCLNCRHNTAGRHCHYCKEGYYRDMGKPITHRKACKACDCHPVGAAGKTCNQTTGQCPCKDGVTGITCNRCAKGYQQSRSPIAPCIKIPVAPPTTAASSVEEPEDCDSYCKASKGKLKINMKKYCKKDYAVQIHILKADKAGDWWKFTVNIISVYKQGTSRIRRGDQSLWIRSRDIACKCPKIKPLKKYLLLGNAEDSPDQSGIVADKSSLVIQWRDTWARRLRKFQQREKKGKCKKA", "length": 604, "header": "sp|O95631-1|NET1_HUMAN Isoform 1 of Netrin-1 OS=Homo sapiens OX=9606 GN=NTN1 PE=1 SV=2 CANONICAL=O95631-1" }, "isoforms": [ { "isoform_ac": "H7BZF4-1", "url": "", "sequence": { "sequence": "HYCKEGYYRDMGKPITHRKACKACDCHPVGAAGKTCNQTTGQCPCKDGVTGITCNRCAKGYQQSRSPIAPCIKIPVAPPTTAASSVEEPEAARQPNTFQAEGLSLLPGAAEKEGARCWGYRRRLGHRVAQAECRGPRSWAWGRITSSFSFASN", "length": 153, "header": "tr|H7BZF4-1|H7BZF4_HUMAN Computationally mapped isoform of Netrin 1 OS=Homo sapiens OX=9606 GN=NTN1 PE=1 SV=3 CANONICAL=O95631-1" }, "locus": { "chromosome": "17", "start_pos": 9183435, "end_pos": 9162935, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436734.1", "url": "https://www.ensembl.org/id/ENST00000436734.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389375.2", "url": "https://www.ensembl.org/id/ENSP00000389375.2" } ] } }, { "isoform_ac": "O95631-1", "url": "", "sequence": { "sequence": 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"id": "ENSP00000173229.2", "url": "https://www.ensembl.org/id/ENSP00000173229.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "O95631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95631#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 131, "start_aa": "Asn", "end_pos": 131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn131", "evidence": [ { "id": "O95631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95631#ptm_processing" } ] }, { "glytoucan_ac": "G91636VS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "1542", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1542" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 417, "start_aa": "Asn", "end_pos": 417, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn417", "evidence": [ { "id": "O95631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95631#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "IPVAPPTTAASSVEEPEDCDSYCK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 454, "start_aa": "Ile", "end_pos": 477, "end_aa": "Lys", "evidence": [ { "id": "O95631", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 460, "start_aa": "Thr", "end_pos": 460, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr460", "evidence": [ { "id": "O95631", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 461, "start_aa": "Thr", "end_pos": 461, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr461", "evidence": [ { "id": "O95631", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "O95631", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95631#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O95631", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion.", "journal": "Brain research. Molecular brain research", "date": "2000", "authors": "Agarwala KL, Nakamura S, Tsutsumi Y, Yamakawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "10925149", "url": "https://glygen.org/publication/PubMed/10925149" } ] }, { "title": "Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Rohatgi R, Ho HY, Kirschner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885" } ], "reference": [ { "type": "PubMed", "id": "10995436", "url": "https://glygen.org/publication/PubMed/10995436" } ] }, { "title": "Binding of DCC by netrin-1 to mediate axon guidance independent of adenosine A2B receptor activation.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Stein E, Zou Y, Poo M, Tessier-Lavigne M", "evidence": [ { "database": "Reactome", "id": "R-HSA-418885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885" } ], "reference": [ { "type": "PubMed", "id": "11239160", "url": "https://glygen.org/publication/PubMed/11239160" } ] }, { "title": "Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Agarwala KL, Ganesh S, Tsutsumi Y, Suzuki T, Amano K, Yamakawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-376172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-376172" } ], "reference": [ { "type": "PubMed", "id": "11453658", "url": "https://glygen.org/publication/PubMed/11453658" } ] }, { "title": "The netrin-1 receptor DCC promotes filopodia formation and cell spreading by activating Cdc42 and Rac1.", "journal": "Molecular and cellular neurosciences", "date": "2002", "authors": "Shekarabi M, Kennedy TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885" } ], "reference": [ { "type": "PubMed", "id": "11817894", "url": "https://glygen.org/publication/PubMed/11817894" } ] }, { "title": "The adaptor protein Nck-1 couples the netrin-1 receptor DCC (deleted in colorectal cancer) to the activation of the small GTPase Rac1 through an atypical mechanism.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Li X, Meriane M, Triki I, Shekarabi M, Kennedy TE, Larose L, Lamarche-Vane N", "evidence": [ { "database": "Reactome", "id": "R-HSA-418885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885" } ], "reference": [ { "type": "PubMed", "id": "12149262", "url": "https://glygen.org/publication/PubMed/12149262" } ] }, { "title": "ERM proteins and merlin: integrators at the cell cortex.", "journal": "Nature reviews. 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"database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "anterior/posterior axon guidance", "id": "GO:0033564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033564", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "chemorepulsion of axon", "id": "GO:0061643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061643", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "Cdc42 protein signal transduction", "id": "GO:0032488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032488", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95631", "url": "https://www.uniprot.org/uniprot/O95631" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { 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