{ "uniprot_canonical_ac": "O75146-1", "uniprot_ac": "O75146", "uniprot_id": "HIP1R_HUMAN", "mass": { "chemical_mass": 119388.0, "monoisotopic_mass": 119388.0 }, "refseq": { "ac": "NP_001290026", "name": "huntingtin-interacting protein 1-related protein isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, "gene_names": [ { "name": "HIP1R", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75146", "id": "O75146" }, { "name": "HIP12; HIP3; ILWEQ", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026", "id": "NP_001290026" }, { "name": "HIP12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75146", "id": "O75146" }, { "name": "HIP1R", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026", "id": "NP_001290026" }, { "name": "KIAA0655", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75146", "id": "O75146" } ], "protein_names": [ { "name": "Huntingtin-interacting protein 1-related protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75146" }, { "name": "HIP-12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75146" }, { "name": "HIP1-related protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75146" }, { "name": "Huntingtin-interacting protein 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75146" }, { "name": "huntingtin interacting protein 12; huntingtin-interacting protein 1-related protein; HIP-12; HIP1-related protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026", "id": "NP_001290026" }, { "name": "huntingtin-interacting protein 1-related protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026", "id": "NP_001290026" } ], "function": [ { "annotation": "Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis.", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146#function" }, { "database": "PubMed", "id": "11889126", "url": "https://glygen.org/publication/PubMed/11889126" }, { "database": "PubMed", "id": "14732715", "url": "https://glygen.org/publication/PubMed/14732715" } ] }, { "annotation": "DNA methylation and miR-92a-3p-mediated repression of HIP1R promotes pancreatic cancer progression by activating the PI3K/AKT pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "36811277", "url": "https://glygen.org/publication/PubMed/36811277" } ] }, { "annotation": "Flurbiprofen inhibits cell proliferation in thyroid cancer through interrupting HIP1R-induced endocytosis of PTEN. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "35209947", "url": "https://glygen.org/publication/PubMed/35209947" } ] }, { "annotation": "HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. (HIP12)", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "11889126", "url": "https://glygen.org/publication/PubMed/11889126" } ] }, { "annotation": "HIP1R acts as a tumor suppressor in gastric cancer by promoting cancer cell apoptosis and inhibiting migration and invasion through modulating Akt.", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "32548851", "url": "https://glygen.org/publication/PubMed/32548851" } ] }, { "annotation": "HIP1R is a natural regulator of PD-L1 lysosomal degradation, and the functions of HIP1R relied on two sequence stretches- one involved in the interaction with PD-L1 and for the sorting to the lysosome.", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "30397328", "url": "https://glygen.org/publication/PubMed/30397328" } ] }, { "annotation": "There is coordinated action of myosin VI and CLCa at the apical surface where these proteins are essential for fission of clathrin-coated pits. Myosin VI and Huntingtin-interacting protein 1-related protein (Hip1R) are mutually exclusive interactors with CLCa, and suggest a model for the sequential function of myosin VI and Hip1R in actin-mediated clathrin-coated vesicle budding. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" }, { "database": "PubMed", "id": "31672988", "url": "https://glygen.org/publication/PubMed/31672988" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs769275103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769275103" }, { "id": "rs769275103", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769275103" }, { "id": "rs769275103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769275103" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 200, "end_pos": 200, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "12", "chr_pos": "122854063", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs184197853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184197853" }, { "id": "rs184197853", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs184197853" }, { "id": "rs184197853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs184197853" }, { "id": "rs184197853", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs184197853#frequency_tab" }, { "id": "rs184197853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs184197853" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 319, "end_pos": 319, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "12", "chr_pos": "122855368", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "I319", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75146", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75146" }, { "id": "rs888646719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs888646719" }, { "id": "rs888646719", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs888646719" }, { "id": "rs888646719", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs888646719#frequency_tab" }, { "id": "rs888646719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs888646719" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 338, "end_pos": 338, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "12", "chr_pos": "122855569", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D338", "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" ] }, { "evidence": [ { "id": "rs1354966351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354966351" }, { "id": "rs1354966351", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1354966351#frequency_tab" }, { "id": "rs1354966351", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354966351" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 356, "end_pos": 356, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IES->NES).", "chr_id": "12", "chr_pos": "122855842", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1369239444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1369239444" }, { "id": "rs1369239444", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1369239444#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 651, "end_pos": 651, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "122858238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T651", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434346109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434346109" }, { "id": "rs1434346109", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434346109" }, { "id": "rs1434346109", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434346109#frequency_tab" }, { "id": "rs1434346109", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434346109" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 707, "end_pos": 707, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "12", "chr_pos": "122858906", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G707", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765429191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765429191" }, { "id": "rs765429191", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765429191" }, { "id": "rs765429191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765429191" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 808, "end_pos": 808, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQS).", "chr_id": "12", "chr_pos": "122859787", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765429191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765429191" }, { "id": "rs765429191", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765429191" }, { "id": "rs765429191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765429191" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 808, "end_pos": 808, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "12", "chr_pos": "122859787", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757873697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757873697" }, { "id": "rs757873697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757873697" }, { "id": "rs757873697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757873697#frequency_tab" }, { "id": "rs757873697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757873697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 822, "end_pos": 822, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NES).", "chr_id": "12", "chr_pos": "122860047", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75146", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75146" }, { "id": "rs867308402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867308402" }, { "id": "rs867308402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867308402" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 8, "end_pos": 8, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "12", "chr_pos": "122835572", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P8", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs867308402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867308402" }, { "id": "rs867308402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867308402" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 8, "end_pos": 8, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "12", "chr_pos": "122835572", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P8", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749514313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749514313" }, { "id": "rs749514313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749514313" }, { "id": "rs749514313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749514313#frequency_tab" }, { "id": "rs749514313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749514313" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 931, "end_pos": 931, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "12", "chr_pos": "122860940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H931", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75146", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75146" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 945, "end_pos": 945, "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 (NER->NES).", "chr_id": "12", "chr_pos": "122860984", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R945", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs749262450", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749262450" }, { "id": "rs749262450", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749262450" }, { "id": "rs749262450", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749262450#frequency_tab" }, { "id": "rs749262450", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749262450" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 953, "end_pos": 953, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "12", "chr_pos": "122861007", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T953", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75146", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75146" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 967, "end_pos": 967, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "12", "chr_pos": "122861139", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D967", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 867, "end_pos": 867, "sequence_org": "R", "sequence_mut": "D", "comment": "Reduced acting binding.", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "PubMed", "id": "16415883", "url": "https://glygen.org/publication/PubMed/16415883" } ] }, { "start_pos": 871, "end_pos": 871, "sequence_org": "G", "sequence_mut": "D", "comment": "Reduced acting binding.", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "PubMed", "id": "16415883", "url": "https://glygen.org/publication/PubMed/16415883" } ] }, { "start_pos": 875, "end_pos": 875, "sequence_org": "A", "sequence_mut": "D", "comment": "Reduced acting binding.", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "PubMed", "id": "16415883", "url": "https://glygen.org/publication/PubMed/16415883" } ] }, { "start_pos": 922, "end_pos": 924, "sequence_org": "KVK", "sequence_mut": "DDD", "comment": "Strongly reduced actin binding.", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "PubMed", "id": "16415883", "url": "https://glygen.org/publication/PubMed/16415883" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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 - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75146" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "common_name": "Human" } ], "gene": [ { "name": "HIP1R", "url": "https://www.uniprot.org/uniprot/O75146", "locus": { "chromosome": "12", "start_pos": 122862961, "end_pos": 122834453, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000130787", "url": "https://www.ensembl.org/id/ENSG00000130787" } ] } } ], "crossref": [ { "id": "ENSG00000130787", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130787", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75146", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75146", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd17014", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17014", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "HIP1R", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIP1R", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9026", "url": "https://www.ncbi.nlm.nih.gov/gene/9026", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18415", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18415", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75146", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75146*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002558", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002558", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008942", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008942", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013809", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013809", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030224", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030224", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032422", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032422", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035964", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035964", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9026", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9026", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605613", "url": "http://www.omim.org/entry/605613", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75146", "url": "https://www.nextprot.org/entry/NX_O75146", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "QLMREQY", "url": "https://omabrowser.org/oma/group/QLMREQY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "7775at2759", "url": "http://www.orthodb.org/?query=7775at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10407", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10407", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10407:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10407:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1R0D", "url": "https://www.rcsb.org/structure/1R0D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01608", "url": "http://pfam.xfam.org/family/PF01608", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07651", "url": "http://pfam.xfam.org/family/PF07651", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16515", "url": "http://pfam.xfam.org/family/PF16515", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75146", "url": "https://pharos.nih.gov/targets/O75146", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050821", "url": "https://proconsortium.org/app/entry/PR:000050821", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050822", "url": "https://proconsortium.org/app/entry/PR:000050822", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75146", "url": "http://purl.obolibrary.org/obo/PR_O75146", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75146", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H0YH66", "url": "https://www.uniprot.org/uniprot/H0YH66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH66-1", "url": "https://www.uniprot.org/uniprot/H0YH66-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75146-1", "url": "https://www.uniprot.org/uniprot/O75146-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75146-2", "url": "https://www.uniprot.org/uniprot/O75146-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSCLPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLRAAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQSKSELSSRLDTLSAEKDALSGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQGRLAERESQEQGLRQRLLDEQFAVLRGAAAEAAGILQDAVSKLDDPLHLRCTSSPDYLVSRAQEALDAVSTLEEGHAQYLTSLADASALVAALTRFSHLAADTIINGGATSHLAPTDPADRLIDTCRECGARALELMGQLQDQQALRHMQASLVRTPLQGILQLGQELKPKSLDVRQEELGAVVDKEMAATSAAIEDAVRRIEDMMNQARHASSGVKLEVNERILNSCTDLMKAIRLLVTTSTSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVEAADKVVLHTGKYEELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERMRLGELRKQHYVLAGASGSPGEEVAIRPSTAPRSVTTKKPPLAQKPSVAPRQDHQLDKKDGIYPAQLVNY", "length": 1068, "header": "sp|O75146-1|HIP1R_HUMAN Isoform 1 of Huntingtin-interacting protein 1-related protein OS=Homo sapiens OX=9606 GN=HIP1R PE=1 SV=2 CANONICAL=O75146-1" }, "isoforms": [ { "isoform_ac": "H0YH66-1", "url": "", "sequence": { "sequence": "XRHPLACRRRSWRAAGEAADKVVLHTGKYEELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERMRLGELRKQHYVLAGASGSPGEEVAIRPSTAPRSVTTKKPPLAQKPSVAPRQDHQLDKKDGIYPAQLVNY", "length": 197, "header": "tr|H0YH66-1|HIP1R_HUMAN Computationally mapped isoform of Huntingtin-interacting protein 1-related protein OS=Homo sapiens OX=9606 GN=HIP1R PE=1 SV=1 CANONICAL=O75146-1" }, "locus": { "chromosome": "12", "start_pos": 122861751, "end_pos": 122860165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535012.1", "url": "https://www.ensembl.org/id/ENST00000535012.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446236.1", "url": "https://www.ensembl.org/id/ENSP00000446236.1" } ] } }, { "isoform_ac": "O75146-1", "url": "", "sequence": { "sequence": "MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSCLPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLRAAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQSKSELSSRLDTLSAEKDALSGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQGRLAERESQEQGLRQRLLDEQFAVLRGAAAEAAGILQDAVSKLDDPLHLRCTSSPDYLVSRAQEALDAVSTLEEGHAQYLTSLADASALVAALTRFSHLAADTIINGGATSHLAPTDPADRLIDTCRECGARALELMGQLQDQQALRHMQASLVRTPLQGILQLGQELKPKSLDVRQEELGAVVDKEMAATSAAIEDAVRRIEDMMNQARHASSGVKLEVNERILNSCTDLMKAIRLLVTTSTSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVEAADKVVLHTGKYEELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERMRLGELRKQHYVLAGASGSPGEEVAIRPSTAPRSVTTKKPPLAQKPSVAPRQDHQLDKKDGIYPAQLVNY", "length": 1068, "header": "sp|O75146-1|HIP1R_HUMAN Isoform 1 of Huntingtin-interacting protein 1-related protein OS=Homo sapiens OX=9606 GN=HIP1R PE=1 SV=2 CANONICAL=O75146-1" }, "locus": { "chromosome": "12", "start_pos": 122861750, "end_pos": 122835551, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253083.9", "url": "https://www.ensembl.org/id/ENST00000253083.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000253083.4", "url": "https://www.ensembl.org/id/ENSP00000253083.4" } ] } }, { "isoform_ac": "O75146-2", "url": "", "sequence": { "sequence": "MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSCLPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLRAAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQSKSELSSRLDTLSAEKDALSGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQGRLAERVWPPQMQQHH", "length": 615, "header": "sp|O75146-2|HIP1R_HUMAN Isoform 2 of Huntingtin-interacting protein 1-related protein OS=Homo sapiens OX=9606 GN=HIP1R PE=1 SV=2 CANONICAL=O75146-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G73004SD", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 651, "start_aa": "Thr", "end_pos": 651, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr651", "evidence": [ { "id": "O75146", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 652, "start_aa": "Ser", "end_pos": 652, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser652", "evidence": [ { "id": "O75146", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 1015, "end_pos": 1015, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75146", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75146" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1015" }, { "start_pos": 1017, "end_pos": 1017, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75146", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75146" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75146", "url": "http://phospho.elm.eu.org/byAccession/O75146.html" } ], "site_lbl": "Ser1017" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Essential role of phosphoinositide metabolism in synaptic vesicle recycling.", "journal": "Cell", "date": "1999", "authors": "Cremona O, Di Paolo G, Wenk MR, Luthi A, Kim WT, Takei K, Daniell L, Nemoto Y, Shears SB, Flavell RA, McCormick DA, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10535736", "url": "https://glygen.org/publication/PubMed/10535736" } ] }, { "title": "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmuller U, Schneider-Mergener J, Cesareni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10542231", "url": "https://glygen.org/publication/PubMed/10542231" } ] }, { "title": "Spatial control of coated-pit dynamics in living cells.", "journal": "Nature cell biology", "date": "1999", "authors": "Gaidarov I, Santini F, Warren RA, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559856", "url": "https://glygen.org/publication/PubMed/10559856" } ] }, { "title": "Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis.", "journal": "Nature cell biology", "date": "1999", "authors": "Takei K, Slepnev VI, Haucke V, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559861", "url": "https://glygen.org/publication/PubMed/10559861" } ] }, { "title": "Phosphatidylinositol-3-OH kinases are Rab5 effectors.", "journal": "Nature cell biology", "date": "1999", "authors": "Christoforidis S, Miaczynska M, Ashman K, Wilm M, Zhao L, Yip SC, Waterfield MD, Backer JM, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559924", "url": "https://glygen.org/publication/PubMed/10559924" } ] }, { "title": "Role of cyclin G-associated kinase in uncoating clathrin-coated vesicles from non-neuronal cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Greener T, Zhao X, Nojima H, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10625686", "url": "https://glygen.org/publication/PubMed/10625686" } ] }, { "title": "The class II phosphoinositide 3-kinase PI3K-C2alpha is concentrated in the trans-Golgi network and present in clathrin-coated vesicles.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Domin J, Gaidarov I, Smith ME, Keen JH, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10766823", "url": "https://glygen.org/publication/PubMed/10766823" } ] }, { "title": "HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin.", "journal": "Mamm. Genome", "date": "2000", "authors": "Chopra V S, Metzler M, Rasper D M, Engqvist-Goldstein A E, Singaraja R, Gan L, Fichter K M, McCutcheon K, Drubin D, Nicholson D W, Hayden M R", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "11063258", "url": "https://glygen.org/publication/PubMed/11063258" } ] }, { "title": "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis.", "journal": "Journal of cell science", "date": "2000", "authors": "Modregger J, Ritter B, Witter B, Paulsson M, Plomann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11082044", "url": "https://glygen.org/publication/PubMed/11082044" } ] }, { "title": "Clathrin uncoating: Auxilin comes to life.", "journal": "Current biology : CB", "date": "2001", "authors": "Lemmon SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11231140", "url": "https://glygen.org/publication/PubMed/11231140" } ] }, { "title": "The class II phosphoinositide 3-kinase C2alpha is activated by clathrin and regulates clathrin-mediated membrane trafficking.", "journal": "Molecular cell", "date": "2001", "authors": "Gaidarov I, Smith ME, Domin J, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11239472", "url": "https://glygen.org/publication/PubMed/11239472" } ] }, { "title": "Multiple interactions of auxilin 1 with clathrin and the AP-2 adaptor complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Scheele U, Kalthoff C, Ungewickell E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11470803", "url": "https://glygen.org/publication/PubMed/11470803" } ] }, { "title": "Phosphorylation of threonine 156 of the mu2 subunit of the AP2 complex is essential for endocytosis in vitro and in vivo.", "journal": "Current biology : CB", "date": "2001", "authors": "Olusanya O, Andrews PD, Swedlow JR, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11516654", "url": "https://glygen.org/publication/PubMed/11516654" } ] }, { "title": "HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Metzler M, Legendre-Guillemin V, Gan L, Chopra V, Kwok A, McPherson PS, Hayden MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11517213", "url": "https://glygen.org/publication/PubMed/11517213" } ] }, { "title": "The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis.", "journal": "Human molecular genetics", "date": "2001", "authors": "Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, Gauss C, Sathasivam K, Bates GP, Lehrach H, Wanker EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11532990", "url": "https://glygen.org/publication/PubMed/11532990" } ] }, { "title": "Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mishra SK, Agostinelli NR, Brett TJ, Mizukami I, Ross TS, Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11577110", "url": "https://glygen.org/publication/PubMed/11577110" } ] }, { "title": "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11590181", "url": "https://glygen.org/publication/PubMed/11590181" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Phosphorylation of the AP2 mu subunit by AAK1 mediates high affinity binding to membrane protein sorting signals.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Ricotta D, Conner SD, Schmid SL, von Figura K, Honing S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11877457", "url": "https://glygen.org/publication/PubMed/11877457" } ] }, { "title": "Identification of an adaptor-associated kinase, AAK1, as a regulator of clathrin-mediated endocytosis.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Conner SD, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11877461", "url": "https://glygen.org/publication/PubMed/11877461" } ] }, { "title": "HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Legendre-Guillemin V, Metzler M, Charbonneau M, Gan L, Chopra V, Philie J, Hayden MR, McPherson PS", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" }, { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "11889126", "url": "https://glygen.org/publication/PubMed/11889126" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "Accessory protein recruitment motifs in clathrin-mediated endocytosis.", "journal": "Structure (London, England : 1993)", "date": "2002", "authors": "Brett TJ, Traub LM, Fremont DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "12057195", "url": "https://glygen.org/publication/PubMed/12057195" } ] }, { "title": "Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Wasiak S, Legendre-Guillemin V, Puertollano R, Blondeau F, Girard M, de Heuvel E, Boismenu D, Bell AW, Bonifacino JS, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "12213833", "url": "https://glygen.org/publication/PubMed/12213833" } ] }, { "title": "ARF6-GTP recruits Nm23-H1 to facilitate dynamin-mediated endocytosis during adherens junctions disassembly.", "journal": "Nature cell biology", "date": "2002", "authors": "Palacios F, Schweitzer JK, Boshans RL, D'Souza-Schorey C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "12447393", "url": "https://glygen.org/publication/PubMed/12447393" } ] }, { "title": "ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Krauss M, Kinuta M, Wenk MR, De Camilli P, Takei K, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "12847086", "url": "https://glygen.org/publication/PubMed/12847086" } ] }, { "title": "Sorting nexin 9 participates in clathrin-mediated endocytosis through interactions with the core components.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lundmark R, Carlsson SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "12952949", "url": "https://glygen.org/publication/PubMed/12952949" } ] }, { "title": "Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif.", "journal": "EMBO reports", "date": "2003", "authors": "Ritter B, Philie J, Girard M, Tung EC, Blondeau F, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "14555962", "url": "https://glygen.org/publication/PubMed/14555962" } ] }, { "title": "Clathrin promotes incorporation of cargo into coated pits by activation of the AP2 adaptor micro2 kinase.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Jackson AP, Flett A, Smythe C, Hufton L, Wettey FR, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "14581451", "url": "https://glygen.org/publication/PubMed/14581451" } ] }, { "title": "AAK1-mediated micro2 phosphorylation is stimulated by assembled clathrin.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2003", "authors": "Conner SD, Schroter T, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "14617351", "url": "https://glygen.org/publication/PubMed/14617351" } ] }, { "title": "Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating.", "journal": "Neuron", "date": "2003", "authors": "Verstreken P, Koh TW, Schulze KL, Zhai RG, Hiesinger PR, Zhou Y, Mehta SQ, Cao Y, Roos J, Bellen HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "14622578", "url": "https://glygen.org/publication/PubMed/14622578" } ] }, { "title": "Endophilin is required for synaptic vesicle endocytosis by localizing synaptojanin.", "journal": "Neuron", "date": "2003", "authors": "Schuske KR, Richmond JE, Matthies DS, Davis WS, Runz S, Rube DA, van der Bliek AM, Jorgensen EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "14622579", "url": "https://glygen.org/publication/PubMed/14622579" } ] }, { "title": "HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Hyun TS, Rao DS, Saint-Dic D, Michael LE, Kumar PD, Bradley SV, Mizukami IF, Oravecz-Wilson KI, Ross TS", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "14732715", "url": "https://glygen.org/publication/PubMed/14732715" } ] }, { "title": "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Starcevic M, Dell'Angelica EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "15102850", "url": "https://glygen.org/publication/PubMed/15102850" } ] }, { "title": "A novel dynamin-associating molecule, formin-binding protein 17, induces tubular membrane invaginations and participates in endocytosis.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kamioka Y, Fukuhara S, Sawa H, Nagashima K, Masuda M, Matsuda M, Mochizuki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15252009", "url": "https://glygen.org/publication/PubMed/15252009" } ] }, { "title": "Dap160/intersectin scaffolds the periactive zone to achieve high-fidelity endocytosis and normal synaptic growth.", "journal": "Neuron", "date": "2004", "authors": "Marie B, Sweeney ST, Poskanzer KE, Roos J, Kelly RB, Davis GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15260957", "url": "https://glygen.org/publication/PubMed/15260957" } ] }, { "title": "The stimulatory action of amphiphysin on dynamin function is dependent on lipid bilayer curvature.", "journal": "The EMBO journal", "date": "2004", "authors": "Yoshida Y, Kinuta M, Abe T, Liang S, Araki K, Cremona O, Di Paolo G, Moriyama Y, Yasuda T, De Camilli P, Takei K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15318165", "url": "https://glygen.org/publication/PubMed/15318165" } ] }, { "title": "Endocytosis by random initiation and stabilization of clathrin-coated pits.", "journal": "Cell", "date": "2004", "authors": "Ehrlich M, Boll W, Van Oijen A, Hariharan R, Chandran K, Nibert ML, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15339664", "url": "https://glygen.org/publication/PubMed/15339664" } ] }, { "title": "Molecular model for a complete clathrin lattice from electron cryomicroscopy.", "journal": "Nature", "date": "2004", "authors": "Fotin A, Cheng Y, Sliz P, Grigorieff N, Harrison SC, Kirchhausen T, Walz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15502812", "url": "https://glygen.org/publication/PubMed/15502812" } ] }, { "title": "Structure of an auxilin-bound clathrin coat and its implications for the mechanism of uncoating.", "journal": "Nature", "date": "2004", "authors": "Fotin A, Cheng Y, Grigorieff N, Walz T, Harrison SC, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15502813", "url": "https://glygen.org/publication/PubMed/15502813" } ] }, { "title": "Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Chen CY, Brodsky FM", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "15533940", "url": "https://glygen.org/publication/PubMed/15533940" } ] }, { "title": "BAR domains and membrane curvature: bringing your curves to the BAR.", "journal": "Biochemical Society symposium", "date": "2005", "authors": "Gallop JL, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15649145", "url": "https://glygen.org/publication/PubMed/15649145" } ] }, { "title": "SNX9 regulates dynamin assembly and is required for efficient clathrin-mediated endocytosis.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Soulet F, Yarar D, Leonard M, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15703209", "url": "https://glygen.org/publication/PubMed/15703209" } ] }, { "title": "The small G-protein Arf6GTP recruits the AP-2 adaptor complex to membranes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Paleotti O, Macia E, Luton F, Klein S, Partisani M, Chardin P, Kirchhausen T, Franco M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15802264", "url": "https://glygen.org/publication/PubMed/15802264" } ] }, { "title": "Caenorhabditis elegans RME-6 is a novel regulator of RAB-5 at the clathrin-coated pit.", "journal": "Nature cell biology", "date": "2005", "authors": "Sato M, Sato K, Fonarev P, Huang CJ, Liou W, Grant BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15895077", "url": "https://glygen.org/publication/PubMed/15895077" } ] }, { "title": "Phosphatidylinositol-(4,5)-bisphosphate regulates sorting signal recognition by the clathrin-associated adaptor complex AP2.", "journal": "Molecular cell", "date": "2005", "authors": "Honing S, Ricotta D, Krauss M, Spate K, Spolaore B, Motley A, Robinson M, Robinson C, Haucke V, Owen DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "15916959", "url": "https://glygen.org/publication/PubMed/15916959" } ] }, { "title": "An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Shin HW, Hayashi M, Christoforidis S, Lacas-Gervais S, Hoepfner S, Wenk MR, Modregger J, Uttenweiler-Joseph S, Wilm M, Nystuen A, Frankel WN, Solimena M, De Camilli P, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16103228", "url": "https://glygen.org/publication/PubMed/16103228" } ] }, { "title": "Depletion of GAK/auxilin 2 inhibits receptor-mediated endocytosis and recruitment of both clathrin and clathrin adaptors.", "journal": "Journal of cell science", "date": "2005", "authors": "Lee DW, Zhao X, Zhang F, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "16155256", "url": "https://glygen.org/publication/PubMed/16155256" } ] }, { "title": "Individual phosphoinositide 3-kinase C2alpha domain activities independently regulate clathrin function.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Gaidarov I, Zhao Y, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16215232", "url": "https://glygen.org/publication/PubMed/16215232" } ] }, { "title": "Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins.", "journal": "Developmental cell", "date": "2005", "authors": "Itoh T, Erdmann KS, Roux A, Habermann B, Werner H, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16326391", "url": "https://glygen.org/publication/PubMed/16326391" } ] }, { "title": "Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Hunker CM, Galvis A, Kruk I, Giambini H, Veisaga ML, Barbieri MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16410077", "url": "https://glygen.org/publication/PubMed/16410077" } ] }, { "title": "Structural definition of the F-actin-binding THATCH domain from HIP1R.", "journal": "Nature structural & molecular biology", "date": "2006", "authors": "Brett TJ, Legendre-Guillemin V, McPherson PS, Fremont DH", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "16415883", "url": "https://glygen.org/publication/PubMed/16415883" } ] }, { "title": "Molecular switches involving the AP-2 beta2 appendage regulate endocytic cargo selection and clathrin coat assembly.", "journal": "Developmental cell", "date": "2006", "authors": "Edeling MA, Mishra SK, Keyel PA, Steinhauser AL, Collins BM, Roth R, Heuser JE, Owen DJ, Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16516836", "url": "https://glygen.org/publication/PubMed/16516836" } ] }, { "title": "Type Igamma661 phosphatidylinositol phosphate kinase directly interacts with AP2 and regulates endocytosis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bairstow SF, Ling K, Su X, Firestone AJ, Carbonara C, Anderson RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16707488", "url": "https://glygen.org/publication/PubMed/16707488" } ] }, { "title": "A burst of auxilin recruitment determines the onset of clathrin-coated vesicle uncoating.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Massol RH, Boll W, Griffin AM, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16798879", "url": "https://glygen.org/publication/PubMed/16798879" } ] }, { "title": "Stimulation of phosphatidylinositol kinase type I-mediated phosphatidylinositol (4,5)-bisphosphate synthesis by AP-2mu-cargo complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Krauss M, Kukhtina V, Pechstein A, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16880396", "url": "https://glygen.org/publication/PubMed/16880396" } ] }, { "title": "Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly.", "journal": "PLoS biology", "date": "2006", "authors": "Schmid EM, Ford MG, Burtey A, Praefcke GJ, Peak-Chew SY, Mills IG, Benmerah A, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "16903783", "url": "https://glygen.org/publication/PubMed/16903783" } ] }, { "title": "Cargo regulates clathrin-coated pit dynamics.", "journal": "Cell", "date": "2006", "authors": "Puthenveedu MA, von Zastrow M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17018281", "url": "https://glygen.org/publication/PubMed/17018281" } ] }, { "title": "Phosphoinositides in cell regulation and membrane dynamics.", "journal": "Nature", "date": "2006", "authors": "Di Paolo G, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17035995", "url": "https://glygen.org/publication/PubMed/17035995" } ] }, { "title": "Comparative proteomics of clathrin-coated vesicles.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Borner GH, Harbour M, Hester S, Lilley KS, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "17116749", "url": "https://glygen.org/publication/PubMed/17116749" } ] }, { "title": "Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Perera RM, Zoncu R, Lucast L, De Camilli P, Toomre D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17158794", "url": "https://glygen.org/publication/PubMed/17158794" } ] }, { "title": "A novel AAK1 splice variant functions at multiple steps of the endocytic pathway.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Henderson DM, Conner SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17494869", "url": "https://glygen.org/publication/PubMed/17494869" } ] }, { "title": "Curved EFC/F-BAR-domain dimers are joined end to end into a filament for membrane invagination in endocytosis.", "journal": "Cell", "date": "2007", "authors": "Shimada A, Niwa H, Tsujita K, Suetsugu S, Nitta K, Hanawa-Suetsugu K, Akasaka R, Nishino Y, Toyama M, Chen L, Liu ZJ, Wang BC, Yamamoto M, Terada T, Miyazawa A, Tanaka A, Sugano S, Shirouzu M, Nagayama K, Takenawa T, Yokoyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17512409", "url": "https://glygen.org/publication/PubMed/17512409" } ] }, { "title": "Structure and analysis of FCHo2 F-BAR domain: a dimerizing and membrane recruitment module that effects membrane curvature.", "journal": "Structure (London, England : 1993)", "date": "2007", "authors": "Henne WM, Kent HM, Ford MG, Hegde BG, Daumke O, Butler PJ, Mittal R, Langen R, Evans PR, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17540576", "url": "https://glygen.org/publication/PubMed/17540576" } ] }, { "title": "SNX9 couples actin assembly to phosphoinositide signals and is required for membrane remodeling during endocytosis.", "journal": "Developmental cell", "date": "2007", "authors": "Yarar D, Waterman-Storer CM, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17609109", "url": "https://glygen.org/publication/PubMed/17609109" } ] }, { "title": "Sorting nexin 9 interacts with dynamin 1 and N-WASP and coordinates synaptic vesicle endocytosis.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Shin N, Lee S, Ahn N, Kim SA, Ahn SG, YongPark Z, Chang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17681954", "url": "https://glygen.org/publication/PubMed/17681954" } ] }, { "title": "The NECAP PHear domain increases clathrin accessory protein binding potential.", "journal": "The EMBO journal", "date": "2007", "authors": "Ritter B, Denisov AY, Philie J, Allaire PD, Legendre-Guillemin V, Zylbergold P, Gehring K, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17762867", "url": "https://glygen.org/publication/PubMed/17762867" } ] }, { "title": "A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.", "journal": "Developmental cell", "date": "2007", "authors": "Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17765681", "url": "https://glygen.org/publication/PubMed/17765681" } ] }, { "title": "A motif in the clathrin heavy chain required for the Hsc70/auxilin uncoating reaction.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Rapoport I, Boll W, Yu A, Bocking T, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "17978091", "url": "https://glygen.org/publication/PubMed/17978091" } ] }, { "title": "The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.", "journal": "Neuron", "date": "2007", "authors": "Mani M, Lee SY, Lucast L, Cremona O, Di Paolo G, De Camilli P, Ryan TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "18093523", "url": "https://glygen.org/publication/PubMed/18093523" } ] }, { "title": "SNX9 regulates tubular invagination of the plasma membrane through interaction with actin cytoskeleton and dynamin 2.", "journal": "Journal of cell science", "date": "2008", "authors": "Shin N, Ahn N, Chang-Ileto B, Park J, Takei K, Ahn SG, Kim SA, Di Paolo G, Chang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "18388313", "url": "https://glygen.org/publication/PubMed/18388313" } ] }, { "title": "Interaction of phosphoinositide cycle intermediates with the plasma membrane-associated clathrin assembly protein AP-2.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Beck KA, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "1847920", "url": "https://glygen.org/publication/PubMed/1847920" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" }, { "database": "iPTMnet", "id": "O75146-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75146-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wilbur JD, Chen CY, Manalo V, Hwang PK, Fletterick RJ, Brodsky FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "18790740", "url": "https://glygen.org/publication/PubMed/18790740" } ] }, { "title": "Coordinated regulation of AP2 uncoating from clathrin-coated vesicles by rab5 and hRME-6.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Semerdjieva S, Shortt B, Maxwell E, Singh S, Fonarev P, Hansen J, Schiavo G, Grant BD, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "18981233", "url": "https://glygen.org/publication/PubMed/18981233" } ] }, { "title": "SNX9 - a prelude to vesicle release.", "journal": "Journal of cell science", "date": "2009", "authors": "Lundmark R, Carlsson SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19092055", "url": "https://glygen.org/publication/PubMed/19092055" } ] }, { "title": "HIP1R interacts with a member of Bcl-2 family, BCL2L10, and induces BAK-dependent cell death.", "journal": "Cell. Physiol. Biochem.", "date": "2009", "authors": "Kim JH, Yoon S, Won M, Sim SH, Ko JJ, Han S, Lee KA, Lee K, Bae J", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "19255499", "url": "https://glygen.org/publication/PubMed/19255499" } ] }, { "title": "Clathrin regulates the association of PIPKIgamma661 with the AP-2 adaptor beta2 appendage.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Thieman JR, Mishra SK, Ling K, Doray B, Anderson RA, Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19287005", "url": "https://glygen.org/publication/PubMed/19287005" } ] }, { "title": "Cargo and dynamin regulate clathrin-coated pit maturation.", "journal": "PLoS biology", "date": "2009", "authors": "Loerke D, Mettlen M, Yarar D, Jaqaman K, Jaqaman H, Danuser G, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19296720", "url": "https://glygen.org/publication/PubMed/19296720" } ] }, { "title": "Endocytic accessory proteins are functionally distinguished by their differential effects on the maturation of clathrin-coated pits.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Mettlen M, Stoeber M, Loerke D, Antonescu CN, Danuser G, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19458185", "url": "https://glygen.org/publication/PubMed/19458185" } ] }, { "title": "A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.", "journal": "The EMBO journal", "date": "2009", "authors": "Mao Y, Balkin DM, Zoncu R, Erdmann KS, Tomasini L, Hu F, Jin MM, Hodsdon ME, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19536138", "url": "https://glygen.org/publication/PubMed/19536138" } ] }, { "title": "Molecular circuitry of endocytosis at nerve terminals.", "journal": "Annual review of cell and developmental biology", "date": "2009", "authors": "Dittman J, Ryan TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19575674", "url": "https://glygen.org/publication/PubMed/19575674" } ] }, { "title": "Rab GTPases as coordinators of vesicle traffic.", "journal": "Nature reviews. Molecular cell biology", "date": "2009", "authors": "Stenmark H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19603039", "url": "https://glygen.org/publication/PubMed/19603039" } ] }, { "title": "Tickets to ride: selecting cargo for clathrin-regulated internalization.", "journal": "Nature reviews. Molecular cell biology", "date": "2009", "authors": "Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19696796", "url": "https://glygen.org/publication/PubMed/19696796" } ] }, { "title": "Syp1 is a conserved endocytic adaptor that contains domains involved in cargo selection and membrane tubulation.", "journal": "The EMBO journal", "date": "2009", "authors": "Reider A, Barker SL, Mishra SK, Im YJ, Maldonado-Baez L, Hurley JH, Traub LM, Wendland B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19713939", "url": "https://glygen.org/publication/PubMed/19713939" } ] }, { "title": "Early-arriving Syp1p and Ede1p function in endocytic site placement and formation in budding yeast.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Stimpson HE, Toret CP, Cheng AT, Pauly BS, Drubin DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19776351", "url": "https://glygen.org/publication/PubMed/19776351" } ] }, { "title": "Distinct dynamics of endocytic clathrin-coated pits and coated plaques.", "journal": "PLoS biology", "date": "2009", "authors": "Saffarian S, Cocucci E, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "19809571", "url": "https://glygen.org/publication/PubMed/19809571" } ] }, { "title": "Structure of clathrin coat with bound Hsc70 and auxilin: mechanism of Hsc70-facilitated disassembly.", "journal": "The EMBO journal", "date": "2010", "authors": "Xing Y, Bocking T, Wolf M, Grigorieff N, Kirchhausen T, Harrison SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20033059", "url": "https://glygen.org/publication/PubMed/20033059" } ] }, { "title": "Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits.", "journal": "Developmental cell", "date": "2009", "authors": "Ferguson SM, Raimondi A, Paradise S, Shen H, Mesaki K, Ferguson A, Destaing O, Ko G, Takasaki J, Cremona O, O' Toole E, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20059951", "url": "https://glygen.org/publication/PubMed/20059951" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75146-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75146-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "ArfGAP1 interacts with coat proteins through tryptophan-based motifs.", "journal": "Biochemical and biophysical research communications", "date": "2010", "authors": "Rawet M, Levi-Tal S, Szafer-Glusman E, Parnis A, Cassel D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20211604", "url": "https://glygen.org/publication/PubMed/20211604" } ] }, { "title": "Cargo- and adaptor-specific mechanisms regulate clathrin-mediated endocytosis.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Mettlen M, Loerke D, Yarar D, Danuser G, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20231386", "url": "https://glygen.org/publication/PubMed/20231386" } ] }, { "title": "G domain dimerization controls dynamin's assembly-stimulated GTPase activity.", "journal": "Nature", "date": "2010", "authors": "Chappie JS, Acharya S, Leonard M, Schmid SL, Dyda F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20428113", "url": "https://glygen.org/publication/PubMed/20428113" } ] }, { "title": "FCHo proteins are nucleators of clathrin-mediated endocytosis.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Henne WM, Boucrot E, Meinecke M, Evergren E, Vallis Y, Mittal R, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20448150", "url": "https://glygen.org/publication/PubMed/20448150" } ] }, { "title": "Structure of the PTEN-like region of auxilin, a detector of clathrin-coated vesicle budding.", "journal": "Structure (London, England : 1993)", "date": "2010", "authors": "Guan R, Dai H, Harrison SC, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20826345", "url": "https://glygen.org/publication/PubMed/20826345" } ] }, { "title": "Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.", "journal": "Biochemical and biophysical research communications", "date": "2010", "authors": "Dergai O, Novokhatska O, Dergai M, Skrypkina I, Tsyba L, Moreau J, Rynditch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "20946875", "url": "https://glygen.org/publication/PubMed/20946875" } ] }, { "title": "Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments.", "journal": "Cell", "date": "1990", "authors": "Chavrier P, Parton RG, Hauri HP, Simons K, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "2115402", "url": "https://glygen.org/publication/PubMed/2115402" } ] }, { "title": "Local clustering of transferrin receptors promotes clathrin-coated pit initiation.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Liu AP, Aguet F, Danuser G, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21187331", "url": "https://glygen.org/publication/PubMed/21187331" } ] }, { "title": "Single-molecule analysis of a molecular disassemblase reveals the mechanism of Hsc70-driven clathrin uncoating.", "journal": "Nature structural & molecular biology", "date": "2011", "authors": "Bocking T, Aguet F, Harrison SC, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21278753", "url": "https://glygen.org/publication/PubMed/21278753" } ] }, { "title": "Synaptojanin 1-mediated PI(4,5)P2 hydrolysis is modulated by membrane curvature and facilitates membrane fission.", "journal": "Developmental cell", "date": "2011", "authors": "Chang-Ileto B, Frere SG, Chan RB, Voronov SV, Roux A, Di Paolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21316588", "url": "https://glygen.org/publication/PubMed/21316588" } ] }, { "title": "A high precision survey of the molecular dynamics of mammalian clathrin-mediated endocytosis.", "journal": "PLoS biology", "date": "2011", "authors": "Taylor MJ, Perrais D, Merrifield CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21445324", "url": "https://glygen.org/publication/PubMed/21445324" } ] }, { "title": "A sequential mechanism for clathrin cage disassembly by 70-kDa heat-shock cognate protein (Hsc70) and auxilin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Rothnie A, Clarke AR, Kuzmic P, Cameron A, Smith CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21482805", "url": "https://glygen.org/publication/PubMed/21482805" } ] }, { "title": "ARFGAP1 promotes AP-2-dependent endocytosis.", "journal": "Nature cell biology", "date": "2011", "authors": "Bai M, Gad H, Turacchio G, Cocucci E, Yang JS, Li J, Beznoussenko GV, Nie Z, Luo R, Fu L, Collawn JF, Kirchhausen T, Luini A, Hsu VW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21499258", "url": "https://glygen.org/publication/PubMed/21499258" } ] }, { "title": "Phosphatidylinositol-(4,5)-bisphosphate regulates clathrin-coated pit initiation, stabilization, and size.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Antonescu CN, Aguet F, Danuser G, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21613550", "url": "https://glygen.org/publication/PubMed/21613550" } ] }, { "title": "Molecular mechanism and physiological functions of clathrin-mediated endocytosis.", "journal": "Nature reviews. Molecular cell biology", "date": "2011", "authors": "McMahon HT, Boucrot E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21779028", "url": "https://glygen.org/publication/PubMed/21779028" } ] }, { "title": "Actin dynamics counteract membrane tension during clathrin-mediated endocytosis.", "journal": "Nature cell biology", "date": "2011", "authors": "Boulant S, Kural C, Zeeh JC, Ubelmann F, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21841790", "url": "https://glygen.org/publication/PubMed/21841790" } ] }, { "title": "Hotspots organize clathrin-mediated endocytosis by efficient recruitment and retention of nucleating resources.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2011", "authors": "Nunez D, Antonescu C, Mettlen M, Liu A, Schmid SL, Loerke D, Danuser G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21883765", "url": "https://glygen.org/publication/PubMed/21883765" } ] }, { "title": "Crystal structure of nucleotide-free dynamin.", "journal": "Nature", "date": "2011", "authors": "Faelber K, Posor Y, Gao S, Held M, Roske Y, Schulze D, Haucke V, Noe F, Daumke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21927000", "url": "https://glygen.org/publication/PubMed/21927000" } ] }, { "title": "The crystal structure of dynamin.", "journal": "Nature", "date": "2011", "authors": "Ford MG, Jenni S, Nunnari J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21927001", "url": "https://glygen.org/publication/PubMed/21927001" } ] }, { "title": "A pseudoatomic model of the dynamin polymer identifies a hydrolysis-dependent powerstroke.", "journal": "Cell", "date": "2011", "authors": "Chappie JS, Mears JA, Fang S, Leonard M, Schmid SL, Milligan RA, Hinshaw JE, Dyda F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "21962517", "url": "https://glygen.org/publication/PubMed/21962517" } ] }, { "title": "Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.", "journal": "Neuron", "date": "2011", "authors": "Milosevic I, Giovedi S, Lou X, Raimondi A, Collesi C, Shen H, Paradise S, O'Toole E, Ferguson S, Cremona O, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22099461", "url": "https://glygen.org/publication/PubMed/22099461" } ] }, { "title": "Dynamin, a membrane-remodelling GTPase.", "journal": "Nature reviews. Molecular cell biology", "date": "2012", "authors": "Ferguson SM, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22233676", "url": "https://glygen.org/publication/PubMed/22233676" } ] }, { "title": "Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning.", "journal": "Nature cell biology", "date": "2012", "authors": "Umasankar PK, Sanker S, Thieman JR, Chakraborty S, Wendland B, Tsang M, Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22484487", "url": "https://glygen.org/publication/PubMed/22484487" } ] }, { "title": "A feedback loop between dynamin and actin recruitment during clathrin-mediated endocytosis.", "journal": "PLoS biology", "date": "2012", "authors": "Taylor MJ, Lampe M, Merrifield CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22505844", "url": "https://glygen.org/publication/PubMed/22505844" } ] }, { "title": "BRAG2/GEP100/IQSec1 interacts with clathrin and regulates alpha5beta1 integrin endocytosis through activation of ADP ribosylation factor 5 (Arf5).", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Moravec R, Conger KK, D'Souza R, Allison AB, Casanova JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22815487", "url": "https://glygen.org/publication/PubMed/22815487" } ] }, { "title": "The first five seconds in the life of a clathrin-coated pit.", "journal": "Cell", "date": "2012", "authors": "Cocucci E, Aguet F, Boulant S, Kirchhausen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "22863004", "url": "https://glygen.org/publication/PubMed/22863004" } ] }, { "title": "Cooperative recruitment of dynamin and BIN/amphiphysin/Rvs (BAR) domain-containing proteins leads to GTP-dependent membrane scission.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Meinecke M, Boucrot E, Camdere G, Hon WC, Mittal R, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "23297414", "url": "https://glygen.org/publication/PubMed/23297414" } ] }, { "title": "Divergent modes for cargo-mediated control of clathrin-coated pit dynamics.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Soohoo AL, Puthenveedu MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "23536704", "url": "https://glygen.org/publication/PubMed/23536704" } ] }, { "title": "Spatiotemporal control of endocytosis by phosphatidylinositol-3,4-bisphosphate.", "journal": "Nature", "date": "2013", "authors": "Posor Y, Eichhorn-Gruenig M, Puchkov D, Schoneberg J, Ullrich A, Lampe A, Muller R, Zarbakhsh S, Gulluni F, Hirsch E, Krauss M, Schultz C, Schmoranzer J, Noe F, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "23823722", "url": "https://glygen.org/publication/PubMed/23823722" } ] }, { "title": "Dual role of BAR domain-containing proteins in regulating vesicle release catalyzed by the GTPase, dynamin-2.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Neumann S, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "23861397", "url": "https://glygen.org/publication/PubMed/23861397" } ] }, { "title": "Advances in analysis of low signal-to-noise images link dynamin and AP2 to the functions of an endocytic checkpoint.", "journal": "Developmental cell", "date": "2013", "authors": "Aguet F, Antonescu CN, Mettlen M, Schmid SL, Danuser G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "23891661", "url": "https://glygen.org/publication/PubMed/23891661" } ] }, { "title": "NECAP 1 regulates AP-2 interactions to control vesicle size, number, and cargo during clathrin-mediated endocytosis.", "journal": "PLoS biology", "date": "2013", "authors": "Ritter B, Murphy S, Dokainish H, Girard M, Gudheti MV, Kozlov G, Halin M, Philie J, Jorgensen EM, Gehring K, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "24130457", "url": "https://glygen.org/publication/PubMed/24130457" } ] }, { "title": "Cargo recognition in clathrin-mediated endocytosis.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2013", "authors": "Traub LM, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "24186068", "url": "https://glygen.org/publication/PubMed/24186068" } ] }, { "title": "BAR domain scaffolds in dynamin-mediated membrane fission.", "journal": "Cell", "date": "2014", "authors": "Daumke O, Roux A, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "24581490", "url": "https://glygen.org/publication/PubMed/24581490" } ] }, { "title": "Molecular structure, function, and dynamics of clathrin-mediated membrane traffic.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2014", "authors": "Kirchhausen T, Owen D, Harrison SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "24789820", "url": "https://glygen.org/publication/PubMed/24789820" } ] }, { "title": "Inositol lipid phosphatases in membrane trafficking and human disease.", "journal": "The Biochemical journal", "date": "2014", "authors": "Billcliff PG, Lowe M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "24966051", "url": "https://glygen.org/publication/PubMed/24966051" } ] }, { "title": "A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.", "journal": "eLife", "date": "2014", "authors": "Nandez R, Balkin DM, Messa M, Liang L, Paradise S, Czapla H, Hein MY, Duncan JS, Mann M, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "25107275", "url": "https://glygen.org/publication/PubMed/25107275" } ] }, { "title": "The membrane-associated proteins FCHo and SGIP are allosteric activators of the AP2 clathrin adaptor complex.", "journal": "eLife", "date": "2014", "authors": "Hollopeter G, Lange JJ, Zhang Y, Vu TN, Gu M, Ailion M, Lambie EJ, Slaughter BD, Unruh JR, Florens L, Jorgensen EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "25303366", "url": "https://glygen.org/publication/PubMed/25303366" } ] }, { "title": "Rab proteins and the compartmentalization of the endosomal system.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2014", "authors": "Wandinger-Ness A, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "25341920", "url": "https://glygen.org/publication/PubMed/25341920" } ] }, { "title": "The role of molecular chaperones in clathrin mediated vesicular trafficking.", "journal": "Frontiers in molecular biosciences", "date": "2015", "authors": "Sousa R, Lafer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "26042225", "url": "https://glygen.org/publication/PubMed/26042225" } ] }, { "title": "Forty Years of Clathrin-coated Vesicles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2015", "authors": "Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "26403691", "url": "https://glygen.org/publication/PubMed/26403691" } ] }, { "title": "HIP1R targets PD-L1 to lysosomal degradation to alter T cell-mediated cytotoxicity.", "journal": "Nature chemical biology", "date": "2019", "authors": "Wang H, Yao H, Li C, Shi H, Lan J, Li Z, Zhang Y, Liang L, Fang JY, Xu J", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "30397328", "url": "https://glygen.org/publication/PubMed/30397328" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75146", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Clathrin light chain A drives selective myosin VI recruitment to clathrin-coated pits under membrane tension.", "journal": "Nature communications", "date": "2019", "authors": "Biancospino M, Buel GR, Nino CA, Maspero E, Scotto di Perrotolo R, Raimondi A, Redlingshofer L, Weber J, Brodsky FM, Walters KJ, Polo S", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "31672988", "url": "https://glygen.org/publication/PubMed/31672988" } ] }, { "title": "HIP1R acts as a tumor suppressor in gastric cancer by promoting cancer cell apoptosis and inhibiting migration and invasion through modulating Akt.", "journal": "Journal of clinical laboratory analysis", "date": "2020", "authors": "Zhu J, Wang X, Guan H, Xiao Q, Wu Z, Shi J, Zhang F, Gao P, Song Y, Wang Z", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "32548851", "url": "https://glygen.org/publication/PubMed/32548851" } ] }, { "title": "Flurbiprofen inhibits cell proliferation in thyroid cancer through interrupting HIP1R-induced endocytosis of PTEN.", "journal": "European journal of medical research", "date": "2022", "authors": "Yang N, Liang Y, Yang P, Jiang L", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "35209947", "url": "https://glygen.org/publication/PubMed/35209947" } ] }, { "title": "DNA methylation and miR-92a-3p-mediated repression of HIP1R promotes pancreatic cancer progression by activating the PI3K/AKT pathway.", "journal": "Journal of cellular and molecular medicine", "date": "2023-03", "authors": "Zhu Sixian, Xu Huiting, Chen Runzhi, Shen Qian, Yang Dongmei, Peng Hui, Tong Jin, Fu Qiang", "evidence": [ { "database": "RefSeq", "id": "NP_001290026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290026" } ], "reference": [ { "type": "PubMed", "id": "36811277", "url": "https://glygen.org/publication/PubMed/36811277" } ] }, { "title": "An enzyme that removes clathrin coats: purification of an uncoating ATPase.", "journal": "The Journal of cell biology", "date": "1984", "authors": "Schlossman DM, Schmid SL, Braell WA, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "6146630", "url": "https://glygen.org/publication/PubMed/6146630" } ] }, { "title": "Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding.", "journal": "Nature", "date": "1995", "authors": "Hinshaw JE, Schmid SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "7877694", "url": "https://glygen.org/publication/PubMed/7877694" } ] }, { "title": "Alteration of clathrin light chain expression by transfection and gene disruption.", "journal": "Molecular biology of the cell", "date": "1993", "authors": "Acton SL, Wong DH, Parham P, Brodsky FM, Jackson AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8374173", "url": "https://glygen.org/publication/PubMed/8374173" } ] }, { "title": "Role of auxilin in uncoating clathrin-coated vesicles.", "journal": "Nature", "date": "1995", "authors": "Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8524399", "url": "https://glygen.org/publication/PubMed/8524399" } ] }, { "title": "A role of amphiphysin in synaptic vesicle endocytosis suggested by its binding to dynamin in nerve terminals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "David C, McPherson PS, Mundigl O, de Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "8552632", "url": "https://glygen.org/publication/PubMed/8552632" } ] }, { "title": "Dynamin II binds to the trans-Golgi network.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Maier O, Knoblich M, Westermann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8670264", "url": "https://glygen.org/publication/PubMed/8670264" } ] }, { "title": "Synaptic vesicle endocytosis impaired by disruption of dynamin-SH3 domain interactions.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Shupliakov O, Low P, Grabs D, Gad H, Chen H, David C, Takei K, De Camilli P, Brodin L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9092476", "url": "https://glygen.org/publication/PubMed/9092476" } ] }, { "title": "Auxilin-induced interaction of the molecular chaperone Hsc70 with clathrin baskets.", "journal": "Biochemistry", "date": "1997", "authors": "Barouch W, Prasad K, Greene L, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9100026", "url": "https://glygen.org/publication/PubMed/9100026" } ] }, { "title": "A novel role for Rab5-GDI in ligand sequestration into clathrin-coated pits.", "journal": "Current biology : CB", "date": "1998", "authors": "McLauchlan H, Newell J, Morrice N, Osborne A, West M, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9427626", "url": "https://glygen.org/publication/PubMed/9427626" } ] }, { "title": "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15.", "journal": "FEBS letters", "date": "1997", "authors": "Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9428629", "url": "https://glygen.org/publication/PubMed/9428629" } ] }, { "title": "Dynamin undergoes a GTP-dependent conformational change causing vesiculation.", "journal": "Cell", "date": "1998", "authors": "Sweitzer SM, Hinshaw JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9635431", "url": "https://glygen.org/publication/PubMed/9635431" } ] }, { "title": "Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation.", "journal": "The EMBO journal", "date": "1998", "authors": "Owen DJ, Wigge P, Vallis Y, Moore JD, Evans PR, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "9736607", "url": "https://glygen.org/publication/PubMed/9736607" } ] }, { "title": "Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1).", "journal": "J. Hum. Genet.", "date": "1998", "authors": "Seki N, Muramatsu M, Sugano S, Suzuki Y, Nakagawara A, Ohhira M, Hayashi A, Hori T, Saito T", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "reference": [ { "type": "PubMed", "id": "9852681", "url": "https://glygen.org/publication/PubMed/9852681" } ] } ], "pathway": [ { "id": "hsa:9026", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9026", "resource": "KEGG Pathway" }, { "id": "R-HSA-432722", "name": "Golgi Associated Vesicle Biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "resource": "Reactome", "description": "Golgi Associated Vesicle Biogenesis" }, { "id": "R-HSA-8856828", "name": "Clathrin-mediated endocytosis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828", "resource": "Reactome", "description": "Clathrin-mediated endocytosis" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LML7-1", "protein_name": "Huntingtin interacting protein 1 related", "gene_name": "Hip1r", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINSQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLRDQYGHLVNIYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLMFKLHSCLPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEEEEPENLIEISSGPPAGEPVQVVADLFDQTFGPPNGSMKDDRDLQIENLKREVETLRAELEKIKMEAQRYISQLKGQVNSLEAELEEQRKQKQKALVDNEQLRHELAQLKALQLEGARNQGLREEAERKASATEARYSKLKEKHNELINTHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQMEQVKRESEMKMEEQSDQLEKLKRELVAKAGELAHAQEALSRTEQSGSELSSRLDTLNAEKEALSGAIRQREAELLAAQSLVREKEEALSQEQQRSAQEKGELQGRLAEKESQEQGLQQKLLDEQFAVLRGAAAEAEAILQDAVSKLDDPLHLRCTSSPDYLVSRAQAALDSVSGLEKGHTQYLASSEDASALVAALTRFSHLAADTIVNGGATSHLAPTDPADRLIDTCRECGARALELMGQLQDQTKLPRAQPSLMRAPLQGILQLGQDLKPKSLDVRQEELGAMVDKEMAATSAAIEDAVRRIEDMMNQARHESSGVKLEVNERILNSCTDLMKAIRLLVMTSTSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVESADKVVLHMGKYEELIVCSHEIAASTAQLVAASKVKANKNSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERVRLGELRKQHYVLAGGMGTPGEEEPSRPSPAPRSGATKKPPLAQKPSIAPRPDNQLDKKDGVYPAQLVNY", "length": 1069 }, "evidence": [ { "id": "45931123", "url": "http://www.informatics.jax.org/homology/45931123", "database": "MGI" }, { "id": "O75146", "url": "https://omabrowser.org/oma/group/O75146/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P33338-1", "protein_name": "Protein SLA2", "gene_name": "SLA2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSRIDSDLQKALKKACSVEETAPKRKHVRACIVYTWDHQSSKAVFTTLKTLPLANDEVQLFKMLIVLHKIIQEGHPSALAEAIRDRDWIRSLGRVHSGGSSYSKLIREYVRYLVLKLDFHAHHRGFNNGTFEYEEYVSLVSVSDPDEGYETILDLMSLQDSLDEFSQIIFASIQSERRNTECKISALIPLIAESYGIYKFITSMLRAMHRQLNDAEGDAALQPLKERYELQHARLFEFYADCSSVKYLTTLVTIPKLPVDAPDVFLINDVDESKEIKFKKREPSVTPARTPARTPTPTPPVVAEPAISPRPVSQRTTSTPTGYLQTMPTGATTGMMIPTATGAANAIFPQATAQMQPDFWANQQAQFANEQNRLEQERVQQLQQQQAQQELFQQQLQKAQQDMMNMQLQQQNQHQNDLIALTNQYEKDQALLQQYDQRVQQLESEITTMDSTASKQLANKDEQLTALQDQLDVWERKYESLAKLYSQLRQEHLNLLPRFKKLQLKVNSAQESIQKKEQLEHKLKQKDLQMAELVKDRDRARLELERSINNAEADSAAATAAAETMTQDKMNPILDAILESGINTIQESVYNLDSPLSWSGPLTPPTFLLSLLESTSENATEFATSFNNLIVDGLAHGDQTEVIHCVSDFSTSMATLVTNSKAYAVTTLPQEQSDQILTLVKRCAREAQYFFEDLMSENLNQVGDEEKTDIVINANVDMQEKLQELSLAIEPLLNIQSVKSNKETNPHSELVATADKIVKSSEHLRVDVPKPLLSLALMIIDAVVALVKAAIQCQNEIATTTSIPLNQFYLKNSRWTEGLISAAKAVAGATNVLITTASKLITSEDNENTSPEQFIVASKEVAASTIQLVAASRVKTSIHSKAQDKLEHCSKDVTDACRSLGNHVMGMIEDDHSTSQQQQPLDFTSEHTLKTAEMEQQVEILKLEQSLSNARKRLGEIRRHAYYNQDDD", "length": 968 }, "evidence": [ { "id": "O75146", "url": "https://omabrowser.org/oma/group/O75146/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9JKY5-1", "protein_name": "Huntingtin-interacting protein 1-related protein", "gene_name": "Hip1r", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINSQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLPLSSSSILSWKFCHVLHKVLRDGHPNVLHDYQRYRSNIREIGDLWGHLRDQYGHLVNIYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLMFKLHSCLPADTLQGHRDRFHEQFHSLKNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIKPVVVIPEEAPEEEEPENLIEISSAPPAGEPVVVADLFDQTFGPPNGSMKDDRDLQIENLKREVETLRAELEKIKMEAQRYISQLKGQVNGLEAELEEQRKQKQKALVDNEQLRHELAQLKALQLEGARNQGLREEAERKASATEARYSKLKEKHSELINTHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQMEQAKRESEMKMEEQSDQLEKLKRELAARAGELARAQEALSRTEQSGSELSSRLDTLNAEKEALSGVVRQREAELLAAQSLVREKEEALSQEQQRSSQEKGELRGQLAEKESQEQGLRQKLLDEQLAVLRSAAAEAEAILQDAVSKLDDPLHLRCTSSPDYLVSRAQAALDSVSGLEQGHTQYLASSEDASALVAALTRFSHLAADTIVNGAATSHLAPTDPADRLMDTCRECGARALELVGQLQDQTVLPRAQPSLMRAPLQGILQLGQDLKPKSLDVRQEELGAMVDKEMAATSAAIEDAVRRIEDMMSQARHESSGVKLEVNERILNSCTDLMKAIRLLVMTSTSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVESADKVVLHMGKYEELIVCSHEIAASTAQLVAASKVKANKNSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERVRLGELRKQHYVLAGGMGTPSEEEPSRPSPAPRSGATKKPPLAQKPSIAPRTDNQLDKKDGVYPAQLVNY", "length": 1068 }, "evidence": [ { "id": "45931123", "url": "http://www.informatics.jax.org/homology/45931123", "database": "MGI" }, { "id": "O75146", "url": "https://omabrowser.org/oma/group/O75146/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 14, "go_terms": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin light chain binding", "id": "GO:0032051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032051", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "regulation of gastric acid secretion", "id": "GO:0060453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060453", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of clathrin coat assembly", "id": "GO:1905445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905445", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of protein binding", "id": "GO:0032092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032092", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "activation of cysteine-type endopeptidase activity involved in apoptotic process", "id": "GO:0006919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006919", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "digestive system development", "id": "GO:0055123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055123", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "negative regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034316", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprot/O75146" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "huntingtin-interacting protein 1-related protein O-glycosylated 1 (human)", "definition": "A huntingtin-interacting protein 1-related protein (human) that has been O-glycosylated at the residue equivalent to Ser-652 of the amino acid sequence represented by UniProtKB:O75146-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O75146-1, Ser-652, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050821", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050821" } ] }, { "name": "huntingtin-interacting protein 1-related protein O-glycosylated 2 (human)", "definition": "A huntingtin-interacting protein 1-related protein (human) that has been O-glycosylated at the residue equivalent to Thr-651 of the amino acid sequence represented by UniProtKB:O75146-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:O75146-1, Thr-651, MOD:00005~GNO:G73004SD. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050822", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050822" } ] } ], "site_annotation": [ { "start_pos": 345, "end_pos": 347, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 651, 652 ], "snv_sites": [ 8, 200, 319, 338, 356, 651, 707, 808, 822, 931, 945, 953, 967 ], "glycation_sites": [], "phosphorylation_sites": [ 1015, 1017 ], "sequon_annotation_sites": [ { "start_pos": 345, "end_pos": 347 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 152 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }