{
"uniprot_canonical_ac": "P13569-1",
"uniprot_ac": "P13569",
"uniprot_id": "CFTR_HUMAN",
"mass": {
"chemical_mass": 168142.0,
"monoisotopic_mass": 168142.0
},
"refseq": {
"ac": "NP_000483",
"name": "cystic fibrosis transmembrane conductance regulator",
"summary": "This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
},
"gene_names": [
{
"name": "CFTR",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P13569",
"id": "P13569"
},
{
"name": "ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483",
"id": "NP_000483"
},
{
"name": "ABCC7",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P13569",
"id": "P13569"
},
{
"name": "CFTR",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483",
"id": "NP_000483"
}
],
"protein_names": [
{
"name": "Cystic fibrosis transmembrane conductance regulator",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P13569"
},
{
"name": "5.6.1.6",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13569"
},
{
"name": "ATP-binding cassette sub-family C member 7",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13569"
},
{
"name": "CFTR",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13569"
},
{
"name": "Channel conductance-controlling ATPase",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13569"
},
{
"name": "cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); cystic fibrosis transmembrane conductance regulating",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483",
"id": "NP_000483"
},
{
"name": "cAMP-dependent chloride channel",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P13569"
},
{
"name": "cystic fibrosis transmembrane conductance regulator",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483",
"id": "NP_000483"
}
],
"function": [
{
"annotation": "A Novel Co-Culture Model Reveals Enhanced CFTR Rescue in Primary Cystic Fibrosis Airway Epithelial Cultures with Persistent Pseudomonas aeruginosa Infection. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
},
{
"database": "PubMed",
"id": "37998353",
"url": "https://glygen.org/publication/PubMed/37998353"
}
]
},
{
"annotation": "Antenatal Screening for CFTR Variants-Reply.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
},
{
"database": "PubMed",
"id": "37815569",
"url": "https://glygen.org/publication/PubMed/37815569"
}
]
},
{
"annotation": "Cystic Fibrosis. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
},
{
"database": "PubMed",
"id": "37913507",
"url": "https://glygen.org/publication/PubMed/37913507"
}
]
},
{
"annotation": "Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer.",
"evidence": [
{
"database": "UniProtKB",
"id": "A0A3B3ITE0",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITE0#function"
},
{
"database": "UniProtKB",
"id": "RU362037",
"url": "https://www.uniprot.org/uniprot/RU362037#function"
},
{
"database": "UniProtKB",
"id": "A0A8V8TPV6",
"url": "https://www.uniprot.org/uniprot/A0A8V8TPV6#function"
},
{
"database": "UniProtKB",
"id": "A0A8V8TNN0",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNN0#function"
},
{
"database": "UniProtKB",
"id": "A0A8I5KVV2",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVV2#function"
},
{
"database": "UniProtKB",
"id": "A0A8I5KVL1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVL1#function"
},
{
"database": "UniProtKB",
"id": "A0A8V8TNH2",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNH2#function"
},
{
"database": "UniProtKB",
"id": "A0A3B3ITW5",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITW5#function"
},
{
"database": "UniProtKB",
"id": "E7EPB6",
"url": "https://www.uniprot.org/uniprot/E7EPB6#function"
},
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569#function"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "27941075",
"url": "https://glygen.org/publication/PubMed/27941075"
},
{
"database": "PubMed",
"id": "17036051",
"url": "https://glygen.org/publication/PubMed/17036051"
},
{
"database": "PubMed",
"id": "17182731",
"url": "https://glygen.org/publication/PubMed/17182731"
},
{
"database": "PubMed",
"id": "27714810",
"url": "https://glygen.org/publication/PubMed/27714810"
},
{
"database": "PubMed",
"id": "22178883",
"url": "https://glygen.org/publication/PubMed/22178883"
},
{
"database": "PubMed",
"id": "11524016",
"url": "https://glygen.org/publication/PubMed/11524016"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
},
{
"database": "PubMed",
"id": "26823428",
"url": "https://glygen.org/publication/PubMed/26823428"
},
{
"database": "PubMed",
"id": "19923167",
"url": "https://glygen.org/publication/PubMed/19923167"
},
{
"database": "PubMed",
"id": "10792060",
"url": "https://glygen.org/publication/PubMed/10792060"
},
{
"database": "PubMed",
"id": "19019741",
"url": "https://glygen.org/publication/PubMed/19019741"
},
{
"database": "PubMed",
"id": "8910473",
"url": "https://glygen.org/publication/PubMed/8910473"
},
{
"database": "PubMed",
"id": "19621064",
"url": "https://glygen.org/publication/PubMed/19621064"
},
{
"database": "PubMed",
"id": "14668433",
"url": "https://glygen.org/publication/PubMed/14668433"
},
{
"database": "PubMed",
"id": "12519745",
"url": "https://glygen.org/publication/PubMed/12519745"
},
{
"database": "PubMed",
"id": "9804160",
"url": "https://glygen.org/publication/PubMed/9804160"
},
{
"database": "PubMed",
"id": "1712898",
"url": "https://glygen.org/publication/PubMed/1712898"
},
{
"database": "PubMed",
"id": "12403779",
"url": "https://glygen.org/publication/PubMed/12403779"
},
{
"database": "PubMed",
"id": "19398555",
"url": "https://glygen.org/publication/PubMed/19398555"
},
{
"database": "PubMed",
"id": "11707463",
"url": "https://glygen.org/publication/PubMed/11707463"
},
{
"database": "PubMed",
"id": "12529365",
"url": "https://glygen.org/publication/PubMed/12529365"
},
{
"database": "PubMed",
"id": "15010471",
"url": "https://glygen.org/publication/PubMed/15010471"
},
{
"database": "PubMed",
"id": "16645176",
"url": "https://glygen.org/publication/PubMed/16645176"
},
{
"database": "PubMed",
"id": "28087700",
"url": "https://glygen.org/publication/PubMed/28087700"
},
{
"database": "PubMed",
"id": "26846474",
"url": "https://glygen.org/publication/PubMed/26846474"
},
{
"database": "PubMed",
"id": "26627831",
"url": "https://glygen.org/publication/PubMed/26627831"
}
]
},
{
"annotation": "Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
},
{
"database": "PubMed",
"id": "38003474",
"url": "https://glygen.org/publication/PubMed/38003474"
}
]
},
{
"annotation": "This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0111864",
"recommended_name": {
"id": "DOID:0111864",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111864",
"name": "autosomal recessive congenital bilateral absence of vas deferens",
"description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2."
},
"synonyms": [
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral aplasia of vas deferens from CFTR mutation",
"description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis."
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral absence of vas deferens",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral aplasia of the vas deferens",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "vas deferens, congenital bilateral aplasia of",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "CAVD",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "CBAVD",
"description": ""
},
{
"id": "MIM:277180",
"resource": "MIM",
"url": "https://www.omim.org/entry/277180",
"name": "Congenital bilateral absence of the vas deferens",
"description": "Congenital bilateral absence of the vas deferens"
}
],
"evidence": [
{
"id": "277180",
"database": "MIM",
"url": "https://www.omim.org/entry/277180"
}
]
},
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
],
"evidence": [
{
"id": "219700",
"database": "MIM",
"url": "https://www.omim.org/entry/219700"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
},
{
"id": "rs1221344688",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221344688"
},
{
"id": "rs1221344688",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221344688"
},
{
"id": "rs1221344688",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1221344688#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1214,
"end_pos": 1214,
"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 (DLT->NLT).",
"chr_id": "7",
"chr_pos": "117627693",
"ref_nt": "G",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "D1214",
"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": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1481648296",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1481648296"
},
{
"id": "rs1481648296",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1481648296"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1226,
"end_pos": 1226,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAI->NAT).",
"chr_id": "7",
"chr_pos": "117627730",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I1226",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1012483278",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1012483278"
},
{
"id": "rs1012483278",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1012483278#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 189,
"end_pos": 189,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).",
"chr_id": "7",
"chr_pos": "117534352",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N189",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs140026105",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140026105"
},
{
"id": "rs140026105",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140026105"
},
{
"id": "rs140026105",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140026105"
},
{
"id": "rs140026105",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs140026105"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 371,
"end_pos": 371,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKI->NKT).",
"chr_id": "7",
"chr_pos": "117540342",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "I371",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
}
],
"glycoeffect": [],
"start_pos": 417,
"end_pos": 417,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "7",
"chr_pos": "117548682",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "N417",
"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": ""
}
]
},
{
"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"
}
]
},
{
"disease_id": "DOID:2531",
"recommended_name": {
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematologic cancer",
"description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
},
"synonyms": [
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic malignancy",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematological tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "blood cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic and lymphoid system tumor",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "malignant hematopoietic neoplasm",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs397508185",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508185"
},
{
"id": "rs397508185",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508185"
},
{
"id": "rs397508185",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs397508185#frequency_tab"
},
{
"id": "rs397508185",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs397508185"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 418,
"end_pos": 418,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNN->NNS).",
"chr_id": "7",
"chr_pos": "117548684",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N418",
"disease": [
{
"disease_id": "DOID:0080526",
"recommended_name": {
"id": "DOID:0080526",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080526",
"name": "bronchiectasis 1",
"description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12."
},
"synonyms": [
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1, modifier of",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride type 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "BESC1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "cystic fibrosis-like syndrome",
"description": ""
},
{
"id": "MIM:211400",
"resource": "MIM",
"url": "https://www.omim.org/entry/211400",
"name": "Bronchiectasis with or without elevated sweat chloride 1",
"description": "Bronchiectasis with or without elevated sweat chloride 1"
}
]
},
{
"disease_id": "DOID:9563",
"recommended_name": {
"id": "DOID:9563",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9563",
"name": "bronchiectasis",
"description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances."
},
"synonyms": [
{
"id": "DOID:9563",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9563",
"name": "Polynesian bronchiectasis",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride 1, modifier of",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "bronchiectasis with or without elevated sweat chloride type 1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "BESC1",
"description": ""
},
{
"id": "MONDO:0008887",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008887",
"name": "cystic fibrosis-like syndrome",
"description": ""
},
{
"id": "MIM:211400",
"resource": "MIM",
"url": "https://www.omim.org/entry/211400",
"name": "Bronchiectasis with or without elevated sweat chloride 1",
"description": "Bronchiectasis with or without elevated sweat chloride 1"
}
]
},
{
"disease_id": "DOID:0111864",
"recommended_name": {
"id": "DOID:0111864",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111864",
"name": "autosomal recessive congenital bilateral absence of vas deferens",
"description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2."
},
"synonyms": [
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral aplasia of vas deferens from CFTR mutation",
"description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis."
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral absence of vas deferens",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "congenital bilateral aplasia of the vas deferens",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "vas deferens, congenital bilateral aplasia of",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "CAVD",
"description": ""
},
{
"id": "MONDO:0010178",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010178",
"name": "CBAVD",
"description": ""
},
{
"id": "MIM:277180",
"resource": "MIM",
"url": "https://www.omim.org/entry/277180",
"name": "Congenital bilateral absence of the vas deferens",
"description": "Congenital bilateral absence of the vas deferens"
}
]
},
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
},
{
"disease_id": "DOID:4989",
"recommended_name": {
"id": "DOID:4989",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4989",
"name": "pancreatitis",
"description": "A pancreas disease that is characterized by inflammation of the pancreas."
},
"synonyms": [
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "HPC",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "Hp",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "PCTT",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "autosomal dominant hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "familial pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, hereditary",
"description": ""
},
{
"id": "MIM:167800",
"resource": "MIM",
"url": "https://www.omim.org/entry/167800",
"name": "Pancreatitis, hereditary",
"description": "Pancreatitis, hereditary"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs1562907184",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562907184"
},
{
"id": "rs1562907184",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1562907184"
},
{
"id": "rs1562907184",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562907184"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 425,
"end_pos": 425,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).",
"chr_id": "7",
"chr_pos": "117590372",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D425",
"keywords": [
"ebi",
"somatic"
]
},
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
},
{
"id": "rs397508198",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508198"
},
{
"id": "rs397508198",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs397508198"
},
{
"id": "rs397508198",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508198"
},
{
"id": "rs397508198",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs397508198#frequency_tab"
},
{
"id": "rs397508198",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs397508198"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 464,
"end_pos": 464,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).",
"chr_id": "7",
"chr_pos": "117548823",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "K464",
"disease": [
{
"disease_id": "DOID:2531",
"recommended_name": {
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematologic cancer",
"description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
},
"synonyms": [
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic malignancy",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematological tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "blood cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic and lymphoid system tumor",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "malignant hematopoietic neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
},
{
"disease_id": "DOID:4989",
"recommended_name": {
"id": "DOID:4989",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4989",
"name": "pancreatitis",
"description": "A pancreas disease that is characterized by inflammation of the pancreas."
},
"synonyms": [
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "HPC",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "Hp",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "PCTT",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "autosomal dominant hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "familial pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, hereditary",
"description": ""
},
{
"id": "MIM:167800",
"resource": "MIM",
"url": "https://www.omim.org/entry/167800",
"name": "Pancreatitis, hereditary",
"description": "Pancreatitis, hereditary"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs397508235",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508235"
},
{
"id": "rs397508235",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs397508235"
},
{
"id": "22842228",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/22842228"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 529,
"end_pos": 529,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).",
"chr_id": "7",
"chr_pos": "117587739",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D529",
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
],
"keywords": [
"ebi",
"somatic",
"disease"
]
},
{
"evidence": [
{
"id": "rs1239044735",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239044735"
},
{
"id": "rs1239044735",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1239044735"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 661,
"end_pos": 661,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).",
"chr_id": "7",
"chr_pos": "117592149",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I661",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs750642366",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750642366"
},
{
"id": "rs121908746",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908746"
},
{
"id": "rs121908746",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908746"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 684,
"end_pos": 684,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).",
"chr_id": "7",
"chr_pos": "117592219",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "K684",
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs769375972",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769375972"
},
{
"id": "rs769375972",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769375972"
},
{
"id": "rs769375972",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs769375972#frequency_tab"
},
{
"id": "rs769375972",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs769375972"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 708,
"end_pos": 708,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).",
"chr_id": "7",
"chr_pos": "117592290",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I708",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 760,
"end_pos": 760,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "7",
"chr_pos": "117592446",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "T760",
"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"
}
]
},
{
"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"
}
]
},
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"synonyms": [
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult malignant brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm, adult",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of Brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of adult brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary malignant neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "tumor of the Brain",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs765432538",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765432538"
},
{
"id": "rs765432538",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765432538"
},
{
"id": "rs765432538",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs765432538"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 786,
"end_pos": 786,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).",
"chr_id": "7",
"chr_pos": "117592525",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "K786",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1488966637",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488966637"
},
{
"id": "rs1488966637",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1488966637"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 894,
"end_pos": 894,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST).",
"chr_id": "7",
"chr_pos": "117603556",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N894",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1278852401",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278852401"
},
{
"id": "rs1278852401",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1278852401"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 894,
"end_pos": 894,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).",
"chr_id": "7",
"chr_pos": "117603555",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N894",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs752617117",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752617117"
},
{
"id": "rs752617117",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752617117"
},
{
"id": "rs752617117",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs752617117#frequency_tab"
},
{
"id": "rs752617117",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs752617117"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 896,
"end_pos": 896,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).",
"chr_id": "7",
"chr_pos": "117603561",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T896",
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 8,
"end_pos": 8,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KAS->NAS).",
"chr_id": "7",
"chr_pos": "117480118",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "K8",
"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"
]
},
{
"evidence": [
{
"id": "rs672601315",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs672601315"
},
{
"id": "rs672601315",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs672601315"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 900,
"end_pos": 900,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).",
"chr_id": "7",
"chr_pos": "117603574",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N900",
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs397508422",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508422"
},
{
"id": "rs397508422",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs397508422"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 902,
"end_pos": 902,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNR).",
"chr_id": "7",
"chr_pos": "117603580",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S902",
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs369521395",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369521395"
},
{
"id": "rs369521395",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369521395"
},
{
"id": "rs369521395",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs369521395#frequency_tab"
},
{
"id": "rs369521395",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs369521395"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 908,
"end_pos": 908,
"sequence_org": "T",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TST->NST).",
"chr_id": "7",
"chr_pos": "117603597",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T908",
"keywords": [
"ebi",
"germline",
"disease"
],
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
}
]
},
{
"evidence": [
{
"id": "P13569",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 912,
"end_pos": 912,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "S",
"sequence_mut": "L",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "7",
"chr_pos": "117603609",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "S912",
"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"
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:4159",
"recommended_name": {
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "skin cancer",
"description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
},
"synonyms": [
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "CA - skin cancer",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "malignant neoplasm of skin",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "melanoma and Non-melanoma skin cancer",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs1800110",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800110"
},
{
"id": "rs1800110",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1800110"
},
{
"id": "rs1800110",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1800110"
},
{
"id": "rs1800110",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1800110#frequency_tab"
},
{
"id": "rs1800110",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1800110"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 967,
"end_pos": 967,
"sequence_org": "L",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTL->NTS).",
"chr_id": "7",
"chr_pos": "117603774",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "0.000399",
"site_lbl": "L967",
"keywords": [
"ebi",
"germline",
"disease"
],
"disease": [
{
"disease_id": "DOID:1485",
"recommended_name": {
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "cystic fibrosis",
"description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."
},
"synonyms": [
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "CF",
"description": ""
},
{
"id": "DOID:1485",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1485",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity."
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "CF",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "cystic fibrosis lung disease, modifier of",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "mucoviscidosis",
"description": ""
},
{
"id": "MONDO:0009061",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009061",
"name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
"description": ""
},
{
"id": "MIM:219700",
"resource": "MIM",
"url": "https://www.omim.org/entry/219700",
"name": "Cystic fibrosis",
"description": "Cystic fibrosis"
}
]
},
{
"disease_id": "DOID:4989",
"recommended_name": {
"id": "DOID:4989",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4989",
"name": "pancreatitis",
"description": "A pancreas disease that is characterized by inflammation of the pancreas."
},
"synonyms": [
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary chronic pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "HPC",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "Hp",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "PCTT",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "autosomal dominant hereditary pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "familial pancreatitis",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, calcific, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, protection against, included",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, chronic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0008185",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008185",
"name": "pancreatitis, hereditary",
"description": ""
},
{
"id": "MIM:167800",
"resource": "MIM",
"url": "https://www.omim.org/entry/167800",
"name": "Pancreatitis, hereditary",
"description": "Pancreatitis, hereditary"
}
]
}
]
},
{
"evidence": [
{
"id": "rs770891418",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770891418"
},
{
"id": "rs770891418",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770891418"
},
{
"id": "rs770891418",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs770891418"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 976,
"end_pos": 976,
"sequence_org": "F",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRF->NRS).",
"chr_id": "7",
"chr_pos": "117606692",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "F976",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 1137,
"end_pos": 1137,
"sequence_org": "M",
"sequence_mut": "R",
"comment": "Abolishes channel activity. Impairs protein maturation, suggesting the protein is retained in the endoplasmic reticulum.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "9804160",
"url": "https://glygen.org/publication/PubMed/9804160"
}
]
},
{
"start_pos": 1139,
"end_pos": 1139,
"sequence_org": "I",
"sequence_mut": "V",
"comment": "Decreases channel activity, no visible effect on protein maturation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "9804160",
"url": "https://glygen.org/publication/PubMed/9804160"
}
]
},
{
"start_pos": 1154,
"end_pos": 1154,
"sequence_org": "D",
"sequence_mut": "G",
"comment": "Decreases channel activity, no visible effect on protein maturation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "9804160",
"url": "https://glygen.org/publication/PubMed/9804160"
}
]
},
{
"start_pos": 1250,
"end_pos": 1250,
"sequence_org": "K",
"sequence_mut": "M",
"comment": "No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "1699669",
"url": "https://glygen.org/publication/PubMed/1699669"
}
]
},
{
"start_pos": 1478,
"end_pos": 1480,
"sequence_org": "TRL",
"sequence_mut": "",
"comment": "Reduces interaction with MARCHF2 and abolishes subsequent MARCHF2-mediated degradation. No effect on localization to the Golgi.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "23818989",
"url": "https://glygen.org/publication/PubMed/23818989"
}
]
},
{
"start_pos": 464,
"end_pos": 464,
"sequence_org": "K",
"sequence_mut": "M",
"comment": "Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "1699669",
"url": "https://glygen.org/publication/PubMed/1699669"
}
]
},
{
"start_pos": 508,
"end_pos": 508,
"sequence_org": "F",
"sequence_mut": "R",
"comment": "Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "1699669",
"url": "https://glygen.org/publication/PubMed/1699669"
},
{
"database": "PubMed",
"id": "1712898",
"url": "https://glygen.org/publication/PubMed/1712898"
}
]
},
{
"start_pos": 508,
"end_pos": 508,
"sequence_org": "F",
"sequence_mut": "",
"comment": "Abolishes MARCHF2-mediated degradation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "23818989",
"url": "https://glygen.org/publication/PubMed/23818989"
}
]
},
{
"start_pos": 539,
"end_pos": 539,
"sequence_org": "I",
"sequence_mut": "T",
"comment": "Enhances trafficking from the endoplasmic reticulum to the cell membrane.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "28001373",
"url": "https://glygen.org/publication/PubMed/28001373"
}
]
},
{
"start_pos": 894,
"end_pos": 894,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-900.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "20008117",
"url": "https://glygen.org/publication/PubMed/20008117"
}
]
},
{
"start_pos": 900,
"end_pos": 900,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-894.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "20008117",
"url": "https://glygen.org/publication/PubMed/20008117"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "67",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "55.46",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "65.93",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "55.74",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "77.08",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "96.05",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "78.62",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "63.48",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "70.38",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "54.97",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "72.38",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "74.56",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "73.76",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "No",
"trend": "up",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13569"
}
],
"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": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"common_name": "Human"
}
],
"gene": [
{
"name": "CFTR",
"url": "https://www.uniprot.org/uniprot/P13569",
"locus": {
"chromosome": "7",
"start_pos": 207882,
"end_pos": 19180,
"strand": "-",
"evidence": [
{
"database": "Ensembl Gene",
"id": "LRG_663",
"url": "https://www.ensembl.org/id/LRG_663"
}
]
}
}
],
"crossref": [
{
"id": "ENSG00000001626",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000001626",
"database": "Bgee",
"categories": [
"Gene Expression"
]
},
{
"id": "P13569",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13569",
"database": "BioMuta",
"categories": [
"Variation"
]
},
{
"id": "2.7.4.3",
"url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.7.4.3&UniProtAcc=P13569",
"database": "BRENDA",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "5.6.1.6",
"url": "https://www.brenda-enzymes.org/enzyme.php?ecno=5.6.1.6&UniProtAcc=P13569",
"database": "BRENDA",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "cd03289",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03289",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd03291",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03291",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd18594",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18594",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd18600",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18600",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "CHEMBL4051",
"url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4051",
"database": "ChEMBL",
"categories": [
"Other"
]
},
{
"id": "CFTR",
"url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFTR",
"database": "GeneCards",
"categories": [
"Gene Annotation",
"Organism-specific"
]
},
{
"id": "1080",
"url": "https://www.ncbi.nlm.nih.gov/gene/1080",
"database": "GeneID",
"categories": [
"Genome Annotation"
]
},
{
"id": "1884",
"url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1884",
"database": "HGNC",
"categories": [
"Organism-specific"
]
},
{
"id": "P13569",
"url": "https://www.ebi.ac.uk/intact/interactors/id:P13569*",
"database": "IntAct",
"categories": [
"Other"
]
},
{
"id": "IPR003439",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR003439",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR003593",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR003593",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR009147",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR009147",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR011527",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR011527",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR017871",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR017871",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR025837",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR025837",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR027417",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR027417",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR036640",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR036640",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR047082",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR047082",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "hsa:1080",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1080",
"database": "KEGG Pathway",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "219700",
"url": "http://www.omim.org/entry/219700",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "277180",
"url": "http://www.omim.org/entry/277180",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "602421",
"url": "http://www.omim.org/entry/602421",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "NX_P13569",
"url": "https://www.nextprot.org/entry/NX_P13569",
"database": "neXtProt",
"categories": [
"Protein",
"Organism-specific"
]
},
{
"id": "TEVMMEN",
"url": "https://omabrowser.org/oma/group/TEVMMEN/",
"database": "OMA",
"categories": [
"Protein Classification"
]
},
{
"id": "3384185at2759",
"url": "http://www.orthodb.org/?query=3384185at2759",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR24223",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR24223:SF19",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF19",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "1XMI",
"url": "https://www.rcsb.org/structure/1XMI",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1XMJ",
"url": "https://www.rcsb.org/structure/1XMJ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2BBO",
"url": "https://www.rcsb.org/structure/2BBO",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2BBS",
"url": "https://www.rcsb.org/structure/2BBS",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2BBT",
"url": "https://www.rcsb.org/structure/2BBT",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2LOB",
"url": "https://www.rcsb.org/structure/2LOB",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2PZE",
"url": "https://www.rcsb.org/structure/2PZE",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2PZF",
"url": "https://www.rcsb.org/structure/2PZF",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2PZG",
"url": "https://www.rcsb.org/structure/2PZG",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "3GD7",
"url": "https://www.rcsb.org/structure/3GD7",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "3ISW",
"url": "https://www.rcsb.org/structure/3ISW",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "4WZ6",
"url": "https://www.rcsb.org/structure/4WZ6",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5D2D",
"url": "https://www.rcsb.org/structure/5D2D",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5D3E",
"url": "https://www.rcsb.org/structure/5D3E",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5D3F",
"url": "https://www.rcsb.org/structure/5D3F",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TF7",
"url": "https://www.rcsb.org/structure/5TF7",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TF8",
"url": "https://www.rcsb.org/structure/5TF8",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFA",
"url": "https://www.rcsb.org/structure/5TFA",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFB",
"url": "https://www.rcsb.org/structure/5TFB",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFC",
"url": "https://www.rcsb.org/structure/5TFC",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFD",
"url": "https://www.rcsb.org/structure/5TFD",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFF",
"url": "https://www.rcsb.org/structure/5TFF",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFG",
"url": "https://www.rcsb.org/structure/5TFG",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFI",
"url": "https://www.rcsb.org/structure/5TFI",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TFJ",
"url": "https://www.rcsb.org/structure/5TFJ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5TGK",
"url": "https://www.rcsb.org/structure/5TGK",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "5UAK",
"url": "https://www.rcsb.org/structure/5UAK",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6GJQ",
"url": "https://www.rcsb.org/structure/6GJQ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6GJS",
"url": "https://www.rcsb.org/structure/6GJS",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6GJU",
"url": "https://www.rcsb.org/structure/6GJU",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6GK4",
"url": "https://www.rcsb.org/structure/6GK4",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6GKD",
"url": "https://www.rcsb.org/structure/6GKD",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6HEP",
"url": "https://www.rcsb.org/structure/6HEP",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6MSM",
"url": "https://www.rcsb.org/structure/6MSM",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6O1V",
"url": "https://www.rcsb.org/structure/6O1V",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6O2P",
"url": "https://www.rcsb.org/structure/6O2P",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6UK1",
"url": "https://www.rcsb.org/structure/6UK1",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6WBS",
"url": "https://www.rcsb.org/structure/6WBS",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6ZE1",
"url": "https://www.rcsb.org/structure/6ZE1",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7QI1",
"url": "https://www.rcsb.org/structure/7QI1",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7SV7",
"url": "https://www.rcsb.org/structure/7SV7",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7SVD",
"url": "https://www.rcsb.org/structure/7SVD",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7SVR",
"url": "https://www.rcsb.org/structure/7SVR",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8EIG",
"url": "https://www.rcsb.org/structure/8EIG",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8EIO",
"url": "https://www.rcsb.org/structure/8EIO",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8EIQ",
"url": "https://www.rcsb.org/structure/8EIQ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8EJ1",
"url": "https://www.rcsb.org/structure/8EJ1",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8FZQ",
"url": "https://www.rcsb.org/structure/8FZQ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "PF00005",
"url": "http://pfam.xfam.org/family/PF00005",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00664",
"url": "http://pfam.xfam.org/family/PF00664",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF14396",
"url": "http://pfam.xfam.org/family/PF14396",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "P13569",
"url": "https://pharos.nih.gov/targets/P13569",
"database": "PHAROS",
"categories": [
"Organism-specific"
]
},
{
"id": "PR_P13569",
"url": "http://purl.obolibrary.org/obo/PR_P13569",
"database": "PRO",
"categories": [
"Protein"
]
},
{
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-5627083",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627083",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-8856828",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9615710",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3IT97",
"url": "https://www.uniprot.org/uniprot/A0A3B3IT97",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3IT97-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3IT97-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITE0",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITE0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITE0-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITE0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITW0",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITW0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITW0-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITW0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITW5",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITW5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITW5-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITW5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A669KBE8",
"url": "https://www.uniprot.org/uniprot/A0A669KBE8",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A669KBE8-1",
"url": "https://www.uniprot.org/uniprot/A0A669KBE8-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KVL1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVL1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KVL1-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVL1-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KVV2",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVV2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KVV2-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KVV2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KXQ9",
"url": "https://www.uniprot.org/uniprot/A0A8I5KXQ9",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8I5KXQ9-1",
"url": "https://www.uniprot.org/uniprot/A0A8I5KXQ9-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNG7",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNG7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNG7-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNG7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNH2",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNH2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNH2-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNH2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNN0",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNN0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNN0-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNN0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNN7",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNN7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TNN7-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TNN7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TPV6",
"url": "https://www.uniprot.org/uniprot/A0A8V8TPV6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TPV6-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TPV6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TQ89",
"url": "https://www.uniprot.org/uniprot/A0A8V8TQ89",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TQ89-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TQ89-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TQ94",
"url": "https://www.uniprot.org/uniprot/A0A8V8TQ94",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A8V8TQ94-1",
"url": "https://www.uniprot.org/uniprot/A0A8V8TQ94-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "C9J6L5",
"url": "https://www.uniprot.org/uniprot/C9J6L5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "C9J6L5-1",
"url": "https://www.uniprot.org/uniprot/C9J6L5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EPB6",
"url": "https://www.uniprot.org/uniprot/E7EPB6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E7EPB6-1",
"url": "https://www.uniprot.org/uniprot/E7EPB6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "H0Y8A9",
"url": "https://www.uniprot.org/uniprot/H0Y8A9",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "H0Y8A9-1",
"url": "https://www.uniprot.org/uniprot/H0Y8A9-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0QYZ3",
"url": "https://www.uniprot.org/uniprot/M0QYZ3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "M0QYZ3-1",
"url": "https://www.uniprot.org/uniprot/M0QYZ3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13569-1",
"url": "https://www.uniprot.org/uniprot/P13569-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13569-2",
"url": "https://www.uniprot.org/uniprot/P13569-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P13569-3",
"url": "https://www.uniprot.org/uniprot/P13569-3",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL",
"length": 1480,
"header": "sp|P13569-1|CFTR_HUMAN Isoform 1 of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=3 CANONICAL=P13569-1"
},
"isoforms": [
{
"isoform_ac": "A0A3B3IT97-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLERKAN",
"length": 58,
"header": "tr|A0A3B3IT97-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117505164,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000649850.2",
"url": "https://www.ensembl.org/id/ENST00000649850.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514457.1",
"url": "https://www.ensembl.org/id/ENSP00000514457.1"
}
]
}
},
{
"isoform_ac": "A0A3B3ITE0-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGGPLGKNWIREEYFVISFFETTEH",
"length": 1196,
"header": "tr|A0A3B3ITE0-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=2 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117642508,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000647720.2",
"url": "https://www.ensembl.org/id/ENST00000647720.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497673.2",
"url": "https://www.ensembl.org/id/ENSP00000497673.2"
}
]
}
},
{
"isoform_ac": "A0A3B3ITW0-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVRFEHCLLC",
"length": 842,
"header": "tr|A0A3B3ITW0-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117627797,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000648260.1",
"url": "https://www.ensembl.org/id/ENST00000648260.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497957.1",
"url": "https://www.ensembl.org/id/ENSP00000497957.1"
}
]
}
},
{
"isoform_ac": "A0A3B3ITW5-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVRFEHCLLC",
"length": 1187,
"header": "tr|A0A3B3ITW5-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117627797,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000649406.1",
"url": "https://www.ensembl.org/id/ENST00000649406.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497965.1",
"url": "https://www.ensembl.org/id/ENSP00000497965.1"
}
]
}
},
{
"isoform_ac": "A0A669KBE8-1",
"url": "",
"sequence": {
"sequence": "MFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQ",
"length": 333,
"header": "tr|A0A669KBE8-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117548673,
"end_pos": 117509113,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000673785.1",
"url": "https://www.ensembl.org/id/ENST00000673785.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000501235.1",
"url": "https://www.ensembl.org/id/ENSP00000501235.1"
}
]
}
},
{
"isoform_ac": "A0A8I5KVL1-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLVVGFGSFSHPLTVGLTSKDYFLES",
"length": 1180,
"header": "tr|A0A8I5KVL1-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=2 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117626075,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000687278.2",
"url": "https://www.ensembl.org/id/ENST00000687278.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000509593.2",
"url": "https://www.ensembl.org/id/ENSP00000509593.2"
}
]
}
},
{
"isoform_ac": "A0A8I5KVV2-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQLFFVPASVA",
"length": 1300,
"header": "tr|A0A8I5KVV2-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=2 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117642894,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000685018.2",
"url": "https://www.ensembl.org/id/ENST00000685018.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000510194.2",
"url": "https://www.ensembl.org/id/ENSP00000510194.2"
}
]
}
},
{
"isoform_ac": "A0A8I5KXQ9-1",
"url": "",
"sequence": {
"sequence": "XSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLQLQFY",
"length": 280,
"header": "tr|A0A8I5KXQ9-1|A0A8I5KXQ9_HUMAN Computationally mapped isoform of CF transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117666663,
"end_pos": 117614664,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000689011.1",
"url": "https://www.ensembl.org/id/ENST00000689011.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000510587.1",
"url": "https://www.ensembl.org/id/ENSP00000510587.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TNG7-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGADFTSNGDYGRTGAFRG",
"length": 478,
"header": "tr|A0A8V8TNG7-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117559510,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699597.1",
"url": "https://www.ensembl.org/id/ENST00000699597.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514466.1",
"url": "https://www.ensembl.org/id/ENSP00000514466.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TNH2-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL",
"length": 1478,
"header": "tr|A0A8V8TNH2-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117667105,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699602.1",
"url": "https://www.ensembl.org/id/ENST00000699602.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514471.1",
"url": "https://www.ensembl.org/id/ENSP00000514471.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TNN0-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLKRTKCGSTIPSRNC",
"length": 1428,
"header": "tr|A0A8V8TNN0-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117666956,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699598.1",
"url": "https://www.ensembl.org/id/ENST00000699598.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514467.1",
"url": "https://www.ensembl.org/id/ENSP00000514467.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TNN7-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLERMG",
"length": 57,
"header": "tr|A0A8V8TNN7-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117509042,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699604.1",
"url": "https://www.ensembl.org/id/ENST00000699604.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514472.1",
"url": "https://www.ensembl.org/id/ENSP00000514472.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TPV6-1",
"url": "",
"sequence": {
"sequence": "MFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL",
"length": 1338,
"header": "tr|A0A8V8TPV6-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117667105,
"end_pos": 117509113,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699605.1",
"url": "https://www.ensembl.org/id/ENST00000699605.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514473.1",
"url": "https://www.ensembl.org/id/ENSP00000514473.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TQ89-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEVRNYVKTF",
"length": 536,
"header": "tr|A0A8V8TQ89-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117559679,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699596.1",
"url": "https://www.ensembl.org/id/ENST00000699596.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514465.1",
"url": "https://www.ensembl.org/id/ENSP00000514465.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TQ94-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLASIQRC",
"length": 564,
"header": "tr|A0A8V8TQ94-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117590370,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000699601.1",
"url": "https://www.ensembl.org/id/ENST00000699601.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000514470.1",
"url": "https://www.ensembl.org/id/ENSP00000514470.1"
}
]
}
},
{
"isoform_ac": "C9J6L5-1",
"url": "",
"sequence": {
"sequence": "MFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEER",
"length": 36,
"header": "tr|C9J6L5-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=8 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117530976,
"end_pos": 117509113,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000446805.2",
"url": "https://www.ensembl.org/id/ENST00000446805.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000417012.1",
"url": "https://www.ensembl.org/id/ENSP00000417012.1"
}
]
}
},
{
"isoform_ac": "E7EPB6-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALK",
"length": 1438,
"header": "tr|E7EPB6-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117667069,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000426809.5",
"url": "https://www.ensembl.org/id/ENST00000426809.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000389119.1",
"url": "https://www.ensembl.org/id/ENSP00000389119.1"
}
]
}
},
{
"isoform_ac": "H0Y8A9-1",
"url": "",
"sequence": {
"sequence": "XKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVRFEHCLLC",
"length": 190,
"header": "tr|H0Y8A9-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117627798,
"end_pos": 117611617,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000468795.1",
"url": "https://www.ensembl.org/id/ENST00000468795.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419254.1",
"url": "https://www.ensembl.org/id/ENSP00000419254.1"
}
]
}
},
{
"isoform_ac": "M0QYZ3-1",
"url": "",
"sequence": {
"sequence": "XVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLIMMVAGPLFNGGIASLLAMKEKVISTNPGNSYL",
"length": 156,
"header": "tr|M0QYZ3-1|CFTR_HUMAN Computationally mapped isoform of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=1 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117715857,
"end_pos": 117652843,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000600166.1",
"url": "https://www.ensembl.org/id/ENST00000600166.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000470177.1",
"url": "https://www.ensembl.org/id/ENSP00000470177.1"
}
]
}
},
{
"isoform_ac": "P13569-1",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL",
"length": 1480,
"header": "sp|P13569-1|CFTR_HUMAN Isoform 1 of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=3 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117667105,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000003084.11",
"url": "https://www.ensembl.org/id/ENST00000003084.11"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000003084.6",
"url": "https://www.ensembl.org/id/ENSP00000003084.6"
}
]
}
},
{
"isoform_ac": "P13569-2",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEETSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL",
"length": 1419,
"header": "sp|P13569-2|CFTR_HUMAN Isoform 2 of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=3 CANONICAL=P13569-1"
},
"locus": {
"chromosome": "7",
"start_pos": 117667105,
"end_pos": 117480095,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000649781.2",
"url": "https://www.ensembl.org/id/ENST00000649781.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497203.1",
"url": "https://www.ensembl.org/id/ENSP00000497203.1"
}
]
}
},
{
"isoform_ac": "P13569-3",
"url": "",
"sequence": {
"sequence": "MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFERRRCSCLLDRNKKTIF",
"length": 604,
"header": "sp|P13569-3|CFTR_HUMAN Isoform 3 of Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens OX=9606 GN=CFTR PE=1 SV=3 CANONICAL=P13569-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 894,
"start_aa": "Asn",
"end_pos": 894,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn894",
"evidence": [
{
"id": "P13569",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13569#ptm_processing"
},
{
"id": "20008117",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/20008117"
},
{
"id": "7518437",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/7518437"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 900,
"start_aa": "Asn",
"end_pos": 900,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn900",
"evidence": [
{
"id": "P13569",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13569#ptm_processing"
},
{
"id": "20008117",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/20008117"
},
{
"id": "7518437",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/7518437"
}
]
}
],
"phosphorylation": [
{
"start_pos": 1176,
"end_pos": 1176,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "19413330",
"url": "https://glygen.org/publication/PubMed/19413330"
}
],
"site_lbl": "Thr1176"
},
{
"start_pos": 1362,
"end_pos": 1362,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Ser1362"
},
{
"start_pos": 1444,
"end_pos": 1444,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"site_lbl": "Ser1444"
},
{
"start_pos": 1456,
"end_pos": 1456,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"site_lbl": "Ser1456"
},
{
"start_pos": 1471,
"end_pos": 1471,
"kinase_uniprot_canonical_ac": "P68400-1",
"kinase_gene_name": "CSNK2A1",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "21930781",
"url": "https://glygen.org/publication/PubMed/21930781"
}
],
"site_lbl": "Thr1471"
},
{
"start_pos": 1471,
"end_pos": 1471,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "24058532",
"url": "https://glygen.org/publication/PubMed/24058532"
}
],
"site_lbl": "Thr1471"
},
{
"start_pos": 291,
"end_pos": 291,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Thr291"
},
{
"start_pos": 422,
"end_pos": 422,
"kinase_uniprot_canonical_ac": "P68400-1",
"kinase_gene_name": "CSNK2A1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "21930781",
"url": "https://glygen.org/publication/PubMed/21930781"
}
],
"site_lbl": "Ser422"
},
{
"start_pos": 422,
"end_pos": 422,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "18597485",
"url": "https://glygen.org/publication/PubMed/18597485"
},
{
"database": "PubMed",
"id": "28003367",
"url": "https://glygen.org/publication/PubMed/28003367"
}
],
"site_lbl": "Ser422"
},
{
"start_pos": 511,
"end_pos": 511,
"kinase_uniprot_canonical_ac": "P68400-1",
"kinase_gene_name": "CSNK2A1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "21930781",
"url": "https://glygen.org/publication/PubMed/21930781"
}
],
"site_lbl": "Ser511"
},
{
"start_pos": 511,
"end_pos": 511,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "18597485",
"url": "https://glygen.org/publication/PubMed/18597485"
},
{
"database": "PubMed",
"id": "24178769",
"url": "https://glygen.org/publication/PubMed/24178769"
}
],
"site_lbl": "Ser511"
},
{
"start_pos": 512,
"end_pos": 512,
"kinase_uniprot_canonical_ac": "P07948-1",
"kinase_gene_name": "LYN",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "24178769",
"url": "https://glygen.org/publication/PubMed/24178769"
}
],
"site_lbl": "Tyr512"
},
{
"start_pos": 512,
"end_pos": 512,
"kinase_uniprot_canonical_ac": "P43405-1",
"kinase_gene_name": "SYK",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "21930781",
"url": "https://glygen.org/publication/PubMed/21930781"
}
],
"site_lbl": "Tyr512"
},
{
"start_pos": 512,
"end_pos": 512,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "21807898",
"url": "https://glygen.org/publication/PubMed/21807898"
}
],
"site_lbl": "Tyr512"
},
{
"start_pos": 515,
"end_pos": 515,
"kinase_uniprot_canonical_ac": "P07948-1",
"kinase_gene_name": "LYN",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "24178769",
"url": "https://glygen.org/publication/PubMed/24178769"
}
],
"site_lbl": "Tyr515"
},
{
"start_pos": 517,
"end_pos": 517,
"kinase_uniprot_canonical_ac": "P07948-1",
"kinase_gene_name": "LYN",
"residue": "Tyr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "24178769",
"url": "https://glygen.org/publication/PubMed/24178769"
}
],
"site_lbl": "Tyr517"
},
{
"start_pos": 549,
"end_pos": 549,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"site_lbl": "Ser549"
},
{
"start_pos": 573,
"end_pos": 573,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "32387766",
"url": ""
}
],
"site_lbl": "Ser573"
},
{
"start_pos": 582,
"end_pos": 582,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Thr582"
},
{
"start_pos": 604,
"end_pos": 604,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Thr604"
},
{
"start_pos": 641,
"end_pos": 641,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Ser641"
},
{
"start_pos": 660,
"end_pos": 660,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
}
],
"site_lbl": "Ser660"
},
{
"start_pos": 660,
"end_pos": 660,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "10581361",
"url": "https://glygen.org/publication/PubMed/10581361"
}
],
"site_lbl": "Ser660"
},
{
"start_pos": 660,
"end_pos": 660,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "7690753",
"url": "https://glygen.org/publication/PubMed/7690753"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser660"
},
{
"start_pos": 670,
"end_pos": 670,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "18597485",
"url": "https://glygen.org/publication/PubMed/18597485"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
}
],
"site_lbl": "Ser670"
},
{
"start_pos": 682,
"end_pos": 682,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Thr682"
},
{
"start_pos": 686,
"end_pos": 686,
"kinase_uniprot_canonical_ac": "P17252-1",
"kinase_gene_name": "PRKCA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser686"
},
{
"start_pos": 686,
"end_pos": 686,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
}
],
"site_lbl": "Ser686"
},
{
"start_pos": 700,
"end_pos": 700,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser700"
},
{
"start_pos": 700,
"end_pos": 700,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser700"
},
{
"start_pos": 700,
"end_pos": 700,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "30296824",
"url": "https://glygen.org/publication/PubMed/30296824"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser700"
},
{
"start_pos": 707,
"end_pos": 707,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Ser707"
},
{
"start_pos": 712,
"end_pos": 712,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
}
],
"site_lbl": "Ser712"
},
{
"start_pos": 717,
"end_pos": 717,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "Phosphothreonine",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"site_lbl": "Thr717"
},
{
"start_pos": 737,
"end_pos": 737,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
}
],
"site_lbl": "Ser737"
},
{
"start_pos": 737,
"end_pos": 737,
"kinase_uniprot_canonical_ac": "Q13131-1",
"kinase_gene_name": "PRKAA1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
}
],
"site_lbl": "Ser737"
},
{
"start_pos": 737,
"end_pos": 737,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser737"
},
{
"start_pos": 737,
"end_pos": 737,
"kinase_uniprot_canonical_ac": "Q8IWU2-1",
"kinase_gene_name": "LMTK2",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "16887929",
"url": "https://glygen.org/publication/PubMed/16887929"
}
],
"site_lbl": "Ser737"
},
{
"start_pos": 737,
"end_pos": 737,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
},
{
"database": "PubMed",
"id": "24727471",
"url": "https://glygen.org/publication/PubMed/24727471"
},
{
"database": "PubMed",
"id": "35353541",
"url": "https://glygen.org/publication/PubMed/35353541"
},
{
"database": "PubMed",
"id": "7690753",
"url": "https://glygen.org/publication/PubMed/7690753"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser737"
},
{
"start_pos": 753,
"end_pos": 753,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "7530719",
"url": "https://glygen.org/publication/PubMed/7530719"
},
{
"database": "PubMed",
"id": "30296824",
"url": "https://glygen.org/publication/PubMed/30296824"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
}
],
"site_lbl": "Ser753"
},
{
"start_pos": 768,
"end_pos": 768,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
}
],
"site_lbl": "Ser768"
},
{
"start_pos": 768,
"end_pos": 768,
"kinase_uniprot_canonical_ac": "Q13131-1",
"kinase_gene_name": "PRKAA1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "19419994",
"url": "https://glygen.org/publication/PubMed/19419994"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
}
],
"site_lbl": "Ser768"
},
{
"start_pos": 768,
"end_pos": 768,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser768"
},
{
"start_pos": 768,
"end_pos": 768,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
},
{
"database": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
},
{
"database": "PubMed",
"id": "19419994",
"url": "https://glygen.org/publication/PubMed/19419994"
},
{
"database": "PubMed",
"id": "20952391",
"url": "https://glygen.org/publication/PubMed/20952391"
},
{
"database": "PubMed",
"id": "30296824",
"url": "https://glygen.org/publication/PubMed/30296824"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser768"
},
{
"start_pos": 790,
"end_pos": 790,
"kinase_uniprot_canonical_ac": "P17252-1",
"kinase_gene_name": "PRKCA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
],
"site_lbl": "Ser790"
},
{
"start_pos": 790,
"end_pos": 790,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Ser790"
},
{
"start_pos": 791,
"end_pos": 791,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
],
"site_lbl": "Thr791"
},
{
"start_pos": 795,
"end_pos": 795,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
}
],
"site_lbl": "Ser795"
},
{
"start_pos": 795,
"end_pos": 795,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "10581361",
"url": "https://glygen.org/publication/PubMed/10581361"
}
],
"site_lbl": "Ser795"
},
{
"start_pos": 795,
"end_pos": 795,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
},
{
"database": "PubMed",
"id": "7690753",
"url": "https://glygen.org/publication/PubMed/7690753"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser795"
},
{
"start_pos": 813,
"end_pos": 813,
"kinase_uniprot_canonical_ac": "P17612-1",
"kinase_gene_name": "PRKACA",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
}
],
"site_lbl": "Ser813"
},
{
"start_pos": 813,
"end_pos": 813,
"kinase_uniprot_canonical_ac": "Q13976-1",
"kinase_gene_name": "PRKG1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PubMed",
"id": "10581361",
"url": "https://glygen.org/publication/PubMed/10581361"
}
],
"site_lbl": "Ser813"
},
{
"start_pos": 813,
"end_pos": 813,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by PKA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
},
{
"database": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
},
{
"database": "phospho.ELM",
"id": "P13569",
"url": "http://phospho.elm.eu.org/byAccession/P13569.html"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
},
{
"database": "PRO",
"id": "P13569",
"url": "http://purl.obolibrary.org/obo/P13569"
},
{
"database": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
},
{
"database": "PubMed",
"id": "21455600",
"url": "https://glygen.org/publication/PubMed/21455600"
},
{
"database": "PubMed",
"id": "7690753",
"url": "https://glygen.org/publication/PubMed/7690753"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
],
"site_lbl": "Ser813"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycoprotein",
"glycoprotein_reported"
],
"publication": [
{
"title": "Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.",
"journal": "Clinical genetics",
"date": "1999-01",
"authors": "Onay T, Kayserili H, Apak M Y, Kirdar B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10066035",
"url": "https://glygen.org/publication/PubMed/10066035"
}
]
},
{
"title": "Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair.",
"journal": "Cell",
"date": "1999",
"authors": "Hofmann RM, Pickart CM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "10089880",
"url": "https://glygen.org/publication/PubMed/10089880"
}
]
},
{
"title": "Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. Online.",
"journal": "Human mutation",
"date": "1999",
"authors": "Picci L, Cameran M, Olante P, Zacchello F, Scarpa M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10094564",
"url": "https://glygen.org/publication/PubMed/10094564"
}
]
},
{
"title": "The beta2-adrenergic receptor/betaarrestin complex recruits the clathrin adaptor AP-2 during endocytosis.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1999",
"authors": "Laporte SA, Oakley RH, Zhang J, Holt JA, Ferguson SS, Caron MG, Barak LS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10097102",
"url": "https://glygen.org/publication/PubMed/10097102"
}
]
},
{
"title": "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic.",
"journal": "Molecular biology of the cell",
"date": "1999",
"authors": "Tebar F, Bohlander SK, Sorkin A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10436022",
"url": "https://glygen.org/publication/PubMed/10436022"
}
]
},
{
"title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.",
"journal": "Genomics",
"date": "1999",
"authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "10444327",
"url": "https://glygen.org/publication/PubMed/10444327"
}
]
},
{
"title": "Profound differences in the transport of steroids by two mouse P-glycoproteins.",
"journal": "Biochemical pharmacology",
"date": "1999",
"authors": "Gruol DJ, Vo QD, Zee MC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "10484077",
"url": "https://glygen.org/publication/PubMed/10484077"
}
]
},
{
"title": "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.",
"journal": "Molecular and cellular biology",
"date": "1999",
"authors": "Joberty G, Perlungher RR, Macara IG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "10490598",
"url": "https://glygen.org/publication/PubMed/10490598"
}
]
},
{
"title": "Characterization and dynamics of aggresome formation by a cytosolic GFP-chimera.",
"journal": "The Journal of cell biology",
"date": "1999",
"authors": "Garcia-Mata R, Bebok Z, Sorscher EJ, Sztul ES",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "10491388",
"url": "https://glygen.org/publication/PubMed/10491388"
}
]
},
{
"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": "The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module.",
"journal": "The Journal of biological chemistry",
"date": "1999",
"authors": "Rosenthal JA, Chen H, Slepnev VI, Pellegrini L, Salcini AE, Di Fiore PP, De Camilli P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10567358",
"url": "https://glygen.org/publication/PubMed/10567358"
}
]
},
{
"title": "Influence of phosphorylation by protein kinase A on CFTR at the cell surface and endoplasmic reticulum.",
"journal": "Biochimica et biophysica acta",
"date": "1999",
"authors": "Seibert FS, Chang XB, Aleksandrov AA, Clarke DM, Hanrahan JW, Riordan JR",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10581361",
"url": "https://glygen.org/publication/PubMed/10581361"
}
]
},
{
"title": "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport.",
"journal": "The Journal of cell biology",
"date": "1999",
"authors": "Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10613896",
"url": "https://glygen.org/publication/PubMed/10613896"
}
]
},
{
"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": "A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.",
"journal": "Human mutation",
"date": "1998",
"authors": "Bienvenu T, Bousquet S, Vidaud D, Hubert D, Francoual C, Beldjord C, Kaplan JC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10651488",
"url": "https://glygen.org/publication/PubMed/10651488"
}
]
},
{
"title": "Interaction of docetaxel (`Taxotere`) with human P-glycoprotein.",
"journal": "Japanese journal of cancer research : Gann",
"date": "1999",
"authors": "Shirakawa K, Takara K, Tanigawara Y, Aoyama N, Kasuga M, Komada F, Sakaeda T, Okumura K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "10665657",
"url": "https://glygen.org/publication/PubMed/10665657"
}
]
},
{
"title": "Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes.",
"journal": "The Journal of biological chemistry",
"date": "2000",
"authors": "Zhang F, Zhang W, Liu L, Fisher CL, Hui D, Childs S, Dorovini-Zis K, Ling V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "10748049",
"url": "https://glygen.org/publication/PubMed/10748049"
}
]
},
{
"title": "Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.",
"journal": "J. Biol. Chem.",
"date": "2000",
"authors": "Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle F E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10766763",
"url": "https://glygen.org/publication/PubMed/10766763"
}
]
},
{
"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": "Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic receptor gp600/megalin.",
"journal": "The Biochemical journal",
"date": "2000",
"authors": "Oleinikov AV, Zhao J, Makker SP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10769163",
"url": "https://glygen.org/publication/PubMed/10769163"
}
]
},
{
"title": "A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2000",
"authors": "Ostedgaard LS, Baldursson O, Vermeer DW, Welsh MJ, Robertson AD",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10792060",
"url": "https://glygen.org/publication/PubMed/10792060"
}
]
},
{
"title": "Is the spectrum of mutations in Indian patients with cystic fibrosis different?",
"journal": "American journal of medical genetics",
"date": "2000-07-17",
"authors": "Kabra M, Kabra S K, Ghosh M, Khanna A, Arora S, Menon P S, Verma I C, Wallace A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10869121",
"url": "https://glygen.org/publication/PubMed/10869121"
}
]
},
{
"title": "Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.",
"journal": "Human mutation",
"date": "2000",
"authors": "Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge M C, Monnier N, Malzac P, Mittre H, Chomel J C, Bonnefont J P, Iron A, Chery M, Georges M D",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "10923036",
"url": "https://glygen.org/publication/PubMed/10923036"
}
]
},
{
"title": "Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.",
"journal": "The American journal of gastroenterology",
"date": "2000",
"authors": "Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dork T, Manns MP",
"evidence": [
{
"database": "Entrez",
"id": "1080",
"url": "https://www.ncbi.nlm.nih.gov/gene/1080"
}
],
"reference": [
{
"type": "PubMed",
"id": "10950058",
"url": "https://glygen.org/publication/PubMed/10950058"
}
]
},
{
"title": "Characterization of TCL, a new GTPase of the rho family related to TC10 andCcdc42.",
"journal": "The Journal of biological chemistry",
"date": "2000",
"authors": "Vignal E, De Toledo M, Comunale F, Ladopoulou A, Gauthier-Rouviere C, Blangy A, Fort P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "10967094",
"url": "https://glygen.org/publication/PubMed/10967094"
}
]
},
{
"title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.",
"journal": "The Journal of biological chemistry",
"date": "2000",
"authors": "Kato M, Miyazawa K, Kitamura N",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "10982817",
"url": "https://glygen.org/publication/PubMed/10982817"
}
]
},
{
"title": "The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome.",
"journal": "Molecular cell",
"date": "2000",
"authors": "Kleijnen MF, Shih AH, Zhou P, Kumar S, Soccio RE, Kedersha NL, Gill G, Howley PM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "10983987",
"url": "https://glygen.org/publication/PubMed/10983987"
}
]
},
{
"title": "Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3.",
"journal": "The Journal of biological chemistry",
"date": "2001",
"authors": "Storch S, Braulke T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11071885",
"url": "https://glygen.org/publication/PubMed/11071885"
}
]
},
{
"title": "Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.",
"journal": "The Journal of cell biology",
"date": "2000",
"authors": "Mah AL, Perry G, Smith MA, Monteiro MJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11076969",
"url": "https://glygen.org/publication/PubMed/11076969"
}
]
},
{
"title": "Unique properties of lamp2a compared to other lamp2 isoforms.",
"journal": "Journal of cell science",
"date": "2000",
"authors": "Cuervo AM, Dice JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "11082038",
"url": "https://glygen.org/publication/PubMed/11082038"
}
]
},
{
"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": "The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation.",
"journal": "Nature cell biology",
"date": "2001",
"authors": "Meacham GC, Patterson C, Zhang W, Younger JM, Cyr DM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "11146634",
"url": "https://glygen.org/publication/PubMed/11146634"
}
]
},
{
"title": "PIST: a novel PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10.",
"journal": "Biochemical and biophysical research communications",
"date": "2001",
"authors": "Neudauer CL, Joberty G, Macara IG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5627083",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627083"
}
],
"reference": [
{
"type": "PubMed",
"id": "11162552",
"url": "https://glygen.org/publication/PubMed/11162552"
}
]
},
{
"title": "Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue.",
"journal": "Journal of human genetics",
"date": "2000",
"authors": "Osada N, Kusuda J, Suzuki Y, Sugano S, Hashimoto K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "11185749",
"url": "https://glygen.org/publication/PubMed/11185749"
}
]
},
{
"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": "Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.",
"journal": "Nature",
"date": "2001",
"authors": "Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "11242048",
"url": "https://glygen.org/publication/PubMed/11242048"
}
]
},
{
"title": "Disabled-2 colocalizes with the LDLR in clathrin-coated pits and interacts with AP-2.",
"journal": "Traffic (Copenhagen, Denmark)",
"date": "2001",
"authors": "Morris SM, Cooper JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11247302",
"url": "https://glygen.org/publication/PubMed/11247302"
}
]
},
{
"title": "Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator.",
"journal": "J. Biol. Chem.",
"date": "2001",
"authors": "Karthikeyan S, Leung T, Ladias J A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "11304524",
"url": "https://glygen.org/publication/PubMed/11304524"
}
]
},
{
"title": "Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating.",
"journal": "EMBO reports",
"date": "2001",
"authors": "Walther K, Krauss M, Diril MK, Lemke S, Ricotta D, Honing S, Kaiser S, Haucke V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11454741",
"url": "https://glygen.org/publication/PubMed/11454741"
}
]
},
{
"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": "Kinetics of P-glycoprotein-mediated efflux of paclitaxel.",
"journal": "The Journal of pharmacology and experimental therapeutics",
"date": "2001",
"authors": "Jang SH, Wientjes MG, Au JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "11504826",
"url": "https://glygen.org/publication/PubMed/11504826"
}
]
},
{
"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": "A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator.",
"journal": "Biochemistry",
"date": "2001-09-04",
"authors": "Ramjeesingh M, Li C, Kogan I, Wang Y, Huan L J, Bear C E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "11524016",
"url": "https://glygen.org/publication/PubMed/11524016"
}
]
},
{
"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": "Na+:HCO(3-) cotransporters (NBC): cloning and characterization.",
"journal": "The Journal of membrane biology",
"date": "2001",
"authors": "Soleimani M, Burnham CE",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "11562789",
"url": "https://glygen.org/publication/PubMed/11562789"
}
]
},
{
"title": "A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14.",
"journal": "The EMBO journal",
"date": "2001",
"authors": "Borodovsky A, Kessler BM, Casagrande R, Overkleeft HS, Wilkinson KD, Ploegh HL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "11566882",
"url": "https://glygen.org/publication/PubMed/11566882"
}
]
},
{
"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": "Regulation of receptor fate by ubiquitination of activated beta 2-adrenergic receptor and beta-arrestin.",
"journal": "Science (New York, N.Y.)",
"date": "2001",
"authors": "Shenoy SK, McDonald PH, Kohout TA, Lefkowitz RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11588219",
"url": "https://glygen.org/publication/PubMed/11588219"
}
]
},
{
"title": "A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.",
"journal": "The Journal of biological chemistry",
"date": "2002-02-01",
"authors": "Cheng Jie, Moyer Bryan D, Milewski Michal, Loffing Johannes, Ikeda Masahiro, Mickle John E, Cutting Garry R, Li Min, Stanton Bruce A, Guggino William B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "11707463",
"url": "https://glygen.org/publication/PubMed/11707463"
}
]
},
{
"title": "A principal role for the proteasome in endoplasmic reticulum-associated degradation of misfolded intracellular cystic fibrosis transmembrane conductance regulator.",
"journal": "The Journal of biological chemistry",
"date": "2002",
"authors": "Gelman MS, Kannegaard ES, Kopito RR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "11812794",
"url": "https://glygen.org/publication/PubMed/11812794"
}
]
},
{
"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": "Reactome",
"id": "R-HSA-8856828",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828"
}
],
"reference": [
{
"type": "PubMed",
"id": "11889126",
"url": "https://glygen.org/publication/PubMed/11889126"
}
]
},
{
"title": "A single motif responsible for ubiquitin recognition and monoubiquitination in endocytic proteins.",
"journal": "Nature",
"date": "2002",
"authors": "Polo S, Sigismund S, Faretta M, Guidi M, Capua MR, Bossi G, Chen H, De Camilli P, Di Fiore PP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11919637",
"url": "https://glygen.org/publication/PubMed/11919637"
}
]
},
{
"title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.",
"journal": "Nature",
"date": "2002",
"authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "11923872",
"url": "https://glygen.org/publication/PubMed/11923872"
}
]
},
{
"title": "Dual roles for the Dab2 adaptor protein in embryonic development and kidney transport.",
"journal": "The EMBO journal",
"date": "2002",
"authors": "Morris SM, Tallquist MD, Rock CO, Cooper JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11927540",
"url": "https://glygen.org/publication/PubMed/11927540"
}
]
},
{
"title": "Epsins and Vps27p/Hrs contain ubiquitin-binding domains that function in receptor endocytosis.",
"journal": "Nature cell biology",
"date": "2002",
"authors": "Shih SC, Katzmann DJ, Schnell JD, Sutanto M, Emr SD, Hicke L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "11988742",
"url": "https://glygen.org/publication/PubMed/11988742"
}
]
},
{
"title": "HDAC6 is a microtubule-associated deacetylase.",
"journal": "Nature",
"date": "2002",
"authors": "Hubbert C, Guardiola A, Shao R, Kawaguchi Y, Ito A, Nixon A, Yoshida M, Wang XF, Yao TP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "12024216",
"url": "https://glygen.org/publication/PubMed/12024216"
}
]
},
{
"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": "Molecular architecture and functional model of the endocytic AP2 complex.",
"journal": "Cell",
"date": "2002",
"authors": "Collins BM, McCoy AJ, Kent HM, Evans PR, Owen DJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12086608",
"url": "https://glygen.org/publication/PubMed/12086608"
}
]
},
{
"title": "Variant cystic fibrosis phenotypes in the absence of CFTR mutations.",
"journal": "The New England journal of medicine",
"date": "2002",
"authors": "Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12167682",
"url": "https://glygen.org/publication/PubMed/12167682"
}
]
},
{
"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": "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.",
"journal": "The Journal of biological chemistry",
"date": "2002",
"authors": "He G, Gupta S, Yi M, Michaely P, Hobbs HH, Cohen JC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12221107",
"url": "https://glygen.org/publication/PubMed/12221107"
}
]
},
{
"title": "Disabled-2 exhibits the properties of a cargo-selective endocytic clathrin adaptor.",
"journal": "The EMBO journal",
"date": "2002",
"authors": "Mishra SK, Keyel PA, Hawryluk MJ, Agostinelli NR, Watkins SC, Traub LM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12234931",
"url": "https://glygen.org/publication/PubMed/12234931"
}
]
},
{
"title": "The TC10-interacting protein CIP4/2 is required for insulin-stimulated Glut4 translocation in 3T3L1 adipocytes.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2002",
"authors": "Chang L, Adams RD, Saltiel AR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "12242347",
"url": "https://glygen.org/publication/PubMed/12242347"
}
]
},
{
"title": "Functional analysis of ABCA8, a new drug transporter.",
"journal": "Biochemical and biophysical research communications",
"date": "2002",
"authors": "Tsuruoka S, Ishibashi K, Yamamoto H, Wakaumi M, Suzuki M, Schwartz GJ, Imai M, Fujimura A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "12379217",
"url": "https://glygen.org/publication/PubMed/12379217"
}
]
},
{
"title": "The role of the efflux transporter P-glycoprotein in brain penetration of prednisolone.",
"journal": "The Journal of endocrinology",
"date": "2002",
"authors": "Karssen AM, Meijer OC, van der Sandt IC, De Boer AG, De Lange EC, De Kloet ER",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "12379510",
"url": "https://glygen.org/publication/PubMed/12379510"
}
]
},
{
"title": "The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.",
"journal": "Genetics in medicine : official journal of the American College of Medical Genetics",
"date": "2002",
"authors": "Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, Silverman LM, Allitto BA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12394343",
"url": "https://glygen.org/publication/PubMed/12394343"
}
]
},
{
"title": "The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.",
"journal": "The Journal of biological chemistry",
"date": "2002",
"authors": "Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "12403779",
"url": "https://glygen.org/publication/PubMed/12403779"
}
]
},
{
"title": "Transforming growth factor-beta receptors interact with AP2 by direct binding to beta2 subunit.",
"journal": "Molecular biology of the cell",
"date": "2002",
"authors": "Yao D, Ehrlich M, Henis YI, Leof EB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12429842",
"url": "https://glygen.org/publication/PubMed/12429842"
}
]
},
{
"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": "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2002",
"authors": "Mishra SK, Watkins SC, Traub LM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12451172",
"url": "https://glygen.org/publication/PubMed/12451172"
}
]
},
{
"title": "Small GTPase Tc10 and its homologue RhoT induce N-WASP-mediated long process formation and neurite outgrowth.",
"journal": "Journal of cell science",
"date": "2003",
"authors": "Abe T, Kato M, Miki H, Takenawa T, Endo T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "12456725",
"url": "https://glygen.org/publication/PubMed/12456725"
}
]
},
{
"title": "Phosphorylation of key serine residues is required for internalization of the complement 5a (C5a) anaphylatoxin receptor via a beta-arrestin, dynamin, and clathrin-dependent pathway.",
"journal": "The Journal of biological chemistry",
"date": "2003",
"authors": "Braun L, Christophe T, Boulay F",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12464600",
"url": "https://glygen.org/publication/PubMed/12464600"
}
]
},
{
"title": "Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells.",
"journal": "American journal of physiology. Cell physiology",
"date": "2003",
"authors": "Hallows KR, Kobinger GP, Wilson JM, Witters LA, Foskett JK",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12519745",
"url": "https://glygen.org/publication/PubMed/12519745"
}
]
},
{
"title": "A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.",
"journal": "The Journal of biological chemistry",
"date": "2003",
"authors": "Silvis MR, Picciano JA, Bertrand C, Weixel K, Bridges RJ, Bradbury NA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12529365",
"url": "https://glygen.org/publication/PubMed/12529365"
}
]
},
{
"title": "Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.",
"journal": "The Journal of physiology",
"date": "2003",
"authors": "Chappe V, Hinkson DA, Zhu T, Chang XB, Riordan JR, Hanrahan JW",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
}
]
},
{
"title": "Distribution of STI-571 to the brain is limited by P-glycoprotein-mediated efflux.",
"journal": "The Journal of pharmacology and experimental therapeutics",
"date": "2003",
"authors": "Dai H, Marbach P, Lemaire M, Hayes M, Elmquist WF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "12604685",
"url": "https://glygen.org/publication/PubMed/12604685"
}
]
},
{
"title": "Multiple monoubiquitination of RTKs is sufficient for their endocytosis and degradation.",
"journal": "Nature cell biology",
"date": "2003",
"authors": "Haglund K, Sigismund S, Polo S, Szymkiewicz I, Di Fiore PP, Dikic I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12717448",
"url": "https://glygen.org/publication/PubMed/12717448"
}
]
},
{
"title": "[Frequency of CFTR gene mutations in idiopathic pancreatitis].",
"journal": "Gastroenterologie clinique et biologique",
"date": "2003",
"authors": "Maire F, Bienvenu T, Ngukam A, Hammel P, Ruszniewski P, Levy P",
"evidence": [
{
"database": "Entrez",
"id": "1080",
"url": "https://www.ncbi.nlm.nih.gov/gene/1080"
}
],
"reference": [
{
"type": "PubMed",
"id": "12759680",
"url": "https://glygen.org/publication/PubMed/12759680"
}
]
},
{
"title": "TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport.",
"journal": "The EMBO journal",
"date": "2003",
"authors": "Chiang SH, Hwang J, Legendre M, Zhang M, Kimura A, Saltiel AR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "12773384",
"url": "https://glygen.org/publication/PubMed/12773384"
}
]
},
{
"title": "Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.",
"journal": "Human molecular genetics",
"date": "1992",
"authors": "Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284466",
"url": "https://glygen.org/publication/PubMed/1284466"
}
]
},
{
"title": "A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.",
"journal": "Human molecular genetics",
"date": "1992",
"authors": "Cheadle JP, Meredith AL, al-Jader LN",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284468",
"url": "https://glygen.org/publication/PubMed/1284468"
}
]
},
{
"title": "Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.",
"journal": "Human molecular genetics",
"date": "1992",
"authors": "Shackleton S, Beards F, Harris A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284529",
"url": "https://glygen.org/publication/PubMed/1284529"
}
]
},
{
"title": "A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.",
"journal": "Human molecular genetics",
"date": "1992",
"authors": "Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284530",
"url": "https://glygen.org/publication/PubMed/1284530"
}
]
},
{
"title": "Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.",
"journal": "Human mutation",
"date": "1992",
"authors": "Tsui L C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284534",
"url": "https://glygen.org/publication/PubMed/1284534"
}
]
},
{
"title": "Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.",
"journal": "Nature genetics",
"date": "1992",
"authors": "Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1284548",
"url": "https://glygen.org/publication/PubMed/1284548"
}
]
},
{
"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": "Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.",
"journal": "Hum. Mol. Genet.",
"date": "2003",
"authors": "Aznarez Isabel, Chan Elayne M, Zielenski Julian, Blencowe Benjamin J, Tsui Lap-Chee",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "12913074",
"url": "https://glygen.org/publication/PubMed/12913074"
}
]
},
{
"title": "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.",
"journal": "Nature",
"date": "2003",
"authors": "Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "12917689",
"url": "https://glygen.org/publication/PubMed/12917689"
}
]
},
{
"title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.",
"journal": "Nature",
"date": "2003",
"authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "12917691",
"url": "https://glygen.org/publication/PubMed/12917691"
}
]
},
{
"title": "Xenopus autosomal recessive hypercholesterolemia protein couples lipoprotein receptors with the AP-2 complex in oocytes and embryos and is required for vitellogenesis.",
"journal": "The Journal of biological chemistry",
"date": "2003",
"authors": "Zhou Y, Zhang J, King ML",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12944396",
"url": "https://glygen.org/publication/PubMed/12944396"
}
]
},
{
"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": "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4.",
"journal": "Science (New York, N.Y.)",
"date": "2003",
"authors": "Chen W, ten Berge D, Brown J, Ahn S, Hu LA, Miller WE, Caron MG, Barak LS, Nusse R, Lefkowitz RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "12958364",
"url": "https://glygen.org/publication/PubMed/12958364"
}
]
},
{
"title": "Characterization of the signal for rapid internalization of the bovine mannose 6-phosphate/insulin-like growth factor-II receptor.",
"journal": "The Journal of biological chemistry",
"date": "1992",
"authors": "Jadot M, Canfield WM, Gregory W, Kornfeld S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "1317852",
"url": "https://glygen.org/publication/PubMed/1317852"
}
]
},
{
"title": "Efficient inhibition of P-glycoprotein-mediated multidrug resistance with a monoclonal antibody.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1992",
"authors": "Mechetner EB, Roninson IB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "1352877",
"url": "https://glygen.org/publication/PubMed/1352877"
}
]
},
{
"title": "Partial purification and reconstitution of the human multidrug-resistance pump: characterization of the drug-stimulatable ATP hydrolysis.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1992",
"authors": "Ambudkar SV, Lelong IH, Zhang J, Cardarelli CO, Gottesman MM, Pastan I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "1356264",
"url": "https://glygen.org/publication/PubMed/1356264"
}
]
},
{
"title": "P-glycoprotein but not topoisomerase II and glutathione-S-transferase-pi accounts for enhanced intracellular drug-resistance in LoVo MDR human cell lines.",
"journal": "Tumori",
"date": "1992",
"authors": "Boiocchi M, Tumiotto L, Giannini F, Viel A, Biscontin G, Sartor F, Toffoli G",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "1359686",
"url": "https://glygen.org/publication/PubMed/1359686"
}
]
},
{
"title": "Phosphorylation of the cystic fibrosis transmembrane conductance regulator.",
"journal": "The Journal of biological chemistry",
"date": "1992",
"authors": "Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
},
{
"database": "iPTMnet",
"id": "P13569-1",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569-1"
}
],
"reference": [
{
"type": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
]
},
{
"title": "Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.",
"journal": "FASEB J.",
"date": "1992",
"authors": "McIntosh I, Cutting G R",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1378801",
"url": "https://glygen.org/publication/PubMed/1378801"
}
]
},
{
"title": "Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.",
"journal": "Genomics",
"date": "1992",
"authors": "Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1379210",
"url": "https://glygen.org/publication/PubMed/1379210"
}
]
},
{
"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": "Protein kinase A regulates ATP hydrolysis and dimerization by a CFTR (cystic fibrosis transmembrane conductance regulator) domain.",
"journal": "The Biochemical journal",
"date": "2004",
"authors": "Howell LD, Borchardt R, Kole J, Kaz AM, Randak C, Cohn JA",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "14602047",
"url": "https://glygen.org/publication/PubMed/14602047"
}
]
},
{
"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": "Two isoforms of otubain 1 regulate T cell anergy via GRAIL.",
"journal": "Nature immunology",
"date": "2004",
"authors": "Soares L, Seroogy C, Skrenta H, Anandasabapathy N, Lovelace P, Chung CD, Engleman E, Fathman CG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "14661020",
"url": "https://glygen.org/publication/PubMed/14661020"
}
]
},
{
"title": "Structural determinants of P-glycoprotein-mediated transport of glucocorticoids.",
"journal": "Pharmaceutical research",
"date": "2003",
"authors": "Yates CR, Chang C, Kearbey JD, Yasuda K, Schuetz EG, Miller DD, Dalton JT, Swaan PW",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "14661924",
"url": "https://glygen.org/publication/PubMed/14661924"
}
]
},
{
"title": "The ubiquitin-related protein PLIC-1 regulates heterotrimeric G protein function through association with Gbetagamma.",
"journal": "The Journal of cell biology",
"date": "2003",
"authors": "N'Diaye EN, Brown EJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "14662753",
"url": "https://glygen.org/publication/PubMed/14662753"
}
]
},
{
"title": "Abnormal surface liquid pH regulation by cultured cystic fibrosis bronchial epithelium.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2003-12-23",
"authors": "Coakley Raymond D, Grubb Barbara R, Paradiso Anthony M, Gatzy John T, Johnson Larry G, Kreda Sylvia M, O'Neal Wanda K, Boucher Richard C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "14668433",
"url": "https://glygen.org/publication/PubMed/14668433"
}
]
},
{
"title": "The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress.",
"journal": "Cell",
"date": "2003",
"authors": "Kawaguchi Y, Kovacs JJ, McLaurin A, Vance JM, Ito A, Yao TP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "14675537",
"url": "https://glygen.org/publication/PubMed/14675537"
}
]
},
{
"title": "Functional dissection of the interactions of stonin 2 with the adaptor complex AP-2 and synaptotagmin.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2004",
"authors": "Walther K, Diril MK, Jung N, Haucke V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "14726597",
"url": "https://glygen.org/publication/PubMed/14726597"
}
]
},
{
"title": "Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-).",
"journal": "The Journal of biological chemistry",
"date": "2004-05-21",
"authors": "Shcheynikov Nikolay, Kim Kil Hwan, Kim Kyung-Mi, Dorwart Michael R, Ko Shigeru B H, Goto Hidemi, Naruse Satoru, Thomas Philip J, Muallem Shmuel",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "15010471",
"url": "https://glygen.org/publication/PubMed/15010471"
}
]
},
{
"title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.",
"journal": "Molecular cell",
"date": "2004",
"authors": "Li M, Brooks CL, Kon N, Gu W",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "15053880",
"url": "https://glygen.org/publication/PubMed/15053880"
}
]
},
{
"title": "The adaptor disabled-2 binds to the third psi xNPxY sequence on the cytoplasmic tail of megalin.",
"journal": "Biochimie",
"date": "2004",
"authors": "Gallagher H, Oleinikov AV, Fenske C, Newman DJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "15134832",
"url": "https://glygen.org/publication/PubMed/15134832"
}
]
},
{
"title": "Pharmacokinetics of erythromycin in rabbit corneas after single-dose infusion: role of P-glycoprotein as a barrier to in vivo ocular drug absorption.",
"journal": "The Journal of pharmacology and experimental therapeutics",
"date": "2004",
"authors": "Dey S, Gunda S, Mitra AK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "15175422",
"url": "https://glygen.org/publication/PubMed/15175422"
}
]
},
{
"title": "Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator.",
"journal": "J. Biol. Chem.",
"date": "2004",
"authors": "Swiatecka-Urban Agnieszka, Boyd Cary, Coutermarsh Bonita, Karlson Katherine H, Barnaby Roxanna, Aschenbrenner Laura, Langford George M, Hasson Tama, Stanton Bruce A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "15247260",
"url": "https://glygen.org/publication/PubMed/15247260"
}
]
},
{
"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": "A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity.",
"journal": "J. Biol. Chem.",
"date": "2004",
"authors": "Kidd Jackie F, Ramjeesingh Mohabir, Stratford Fiona, Huan Ling-Jun, Bear Christine E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "15284228",
"url": "https://glygen.org/publication/PubMed/15284228"
}
]
},
{
"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": "A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains.",
"journal": "Cell",
"date": "1992",
"authors": "Letourneur F, Klausner RD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "1535555",
"url": "https://glygen.org/publication/PubMed/1535555"
}
]
},
{
"title": "Identification of budesonide and prednisone as substrates of the intestinal drug efflux pump P-glycoprotein.",
"journal": "Inflammatory bowel diseases",
"date": "2004",
"authors": "Dilger K, Schwab M, Fromm MF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "15472518",
"url": "https://glygen.org/publication/PubMed/15472518"
}
]
},
{
"title": "Adaptors for clathrin coats: structure and function.",
"journal": "Annual review of cell and developmental biology",
"date": "2004",
"authors": "Owen DJ, Collins BM, Evans PR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "15473838",
"url": "https://glygen.org/publication/PubMed/15473838"
}
]
},
{
"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": "Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Lewis HA, Zhao X, Wang C, Sauder JM, Rooney I, Noland BW, Lorimer D, Kearins MC, Conners K, Condon B, Maloney PC, Guggino WB, Hunt JF, Emtage S",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "15528182",
"url": "https://glygen.org/publication/PubMed/15528182"
}
]
},
{
"title": "Regulation of cystic fibrosis transmembrane regulator trafficking and protein expression by a Rho family small GTPase TC10.",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Cheng J, Wang H, Guggino WB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5627083",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627083"
}
],
"reference": [
{
"type": "PubMed",
"id": "15546864",
"url": "https://glygen.org/publication/PubMed/15546864"
}
]
},
{
"title": "A foldable CFTR{Delta}F508 biogenic intermediate accumulates upon inhibition of the Hsc70-CHIP E3 ubiquitin ligase.",
"journal": "The Journal of cell biology",
"date": "2004",
"authors": "Younger JM, Ren HY, Chen L, Fan CY, Fields A, Patterson C, Cyr DM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "15611333",
"url": "https://glygen.org/publication/PubMed/15611333"
}
]
},
{
"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": "Different G protein-coupled receptor kinases govern G protein and beta-arrestin-mediated signaling of V2 vasopressin receptor.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2005",
"authors": "Ren XR, Reiter E, Ahn S, Kim J, Chen W, Lefkowitz RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "15671180",
"url": "https://glygen.org/publication/PubMed/15671180"
}
]
},
{
"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": "Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia.",
"journal": "Molecular biology of the cell",
"date": "2005",
"authors": "Kreda SM, Mall M, Mengos A, Rochelle L, Yankaskas J, Riordan JR, Boucher RC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "15716351",
"url": "https://glygen.org/publication/PubMed/15716351"
}
]
},
{
"title": "Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein.",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Mishra SK, Keyel PA, Edeling MA, Dupin AL, Owen DJ, Traub LM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "15728179",
"url": "https://glygen.org/publication/PubMed/15728179"
}
]
},
{
"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": "Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9).",
"journal": "The Journal of biological chemistry",
"date": "2005",
"authors": "Wolters JC, Abele R, Tampe R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "15863492",
"url": "https://glygen.org/publication/PubMed/15863492"
}
]
},
{
"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": "ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.",
"journal": "Cancer research",
"date": "2005",
"authors": "Frank NY, Margaryan A, Huang Y, Schatton T, Waaga-Gasser AM, Gasser M, Sayegh MH, Sadee W, Frank MH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "15899824",
"url": "https://glygen.org/publication/PubMed/15899824"
}
]
},
{
"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": "Loss of HAUSP-mediated deubiquitination contributes to DNA damage-induced destabilization of Hdmx and Hdm2.",
"journal": "Molecular cell",
"date": "2005",
"authors": "Meulmeester E, Maurice MM, Boutell C, Teunisse AF, Ovaa H, Abraham TE, Dirks RW, Jochemsen AG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "15916963",
"url": "https://glygen.org/publication/PubMed/15916963"
}
]
},
{
"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": "Ubiquilin recruits Eps15 into ubiquitin-rich cytoplasmic aggregates via a UIM-UBL interaction.",
"journal": "Journal of cell science",
"date": "2005",
"authors": "Regan-Klapisz E, Sorokina I, Voortman J, de Keizer P, Roovers RC, Verheesen P, Urbe S, Fallon L, Fon EA, Verkleij A, Benmerah A, van Bergen en Henegouwen PM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "16159959",
"url": "https://glygen.org/publication/PubMed/16159959"
}
]
},
{
"title": "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB.",
"journal": "Cellular signalling",
"date": "2006",
"authors": "Tzimas C, Michailidou G, Arsenakis M, Kieff E, Mosialos G, Hatzivassiliou EG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "16214042",
"url": "https://glygen.org/publication/PubMed/16214042"
}
]
},
{
"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": "Association of the cystic fibrosis transmembrane regulator with CAL: structural features and molecular dynamics.",
"journal": "Biochemistry",
"date": "2005",
"authors": "Piserchio Andrea, Fellows Abigail, Madden Dean R, Mierke Dale F",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "16331976",
"url": "https://glygen.org/publication/PubMed/16331976"
}
]
},
{
"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": "Stonin 2 is an AP-2-dependent endocytic sorting adaptor for synaptotagmin internalization and recycling.",
"journal": "Developmental cell",
"date": "2006",
"authors": "Diril MK, Wienisch M, Jung N, Klingauf J, Haucke V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "16459302",
"url": "https://glygen.org/publication/PubMed/16459302"
}
]
},
{
"title": "The structural basis of arrestin-mediated regulation of G-protein-coupled receptors.",
"journal": "Pharmacology & therapeutics",
"date": "2006",
"authors": "Gurevich VV, Gurevich EV",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "16460808",
"url": "https://glygen.org/publication/PubMed/16460808"
}
]
},
{
"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-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "16516836",
"url": "https://glygen.org/publication/PubMed/16516836"
}
]
},
{
"title": "Ion and fluid transport properties of small airways in cystic fibrosis.",
"journal": "American journal of respiratory and critical care medicine",
"date": "2006-08-01",
"authors": "Blouquit Sabine, Regnier Agathe, Dannhoffer Luc, Fermanian Christophe, Naline Emmanuel, Boucher Richard, Chinet Thierry",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "16645176",
"url": "https://glygen.org/publication/PubMed/16645176"
}
]
},
{
"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": "Endocytosis of the glucose transporter GLUT8 is mediated by interaction of a dileucine motif with the beta2-adaptin subunit of the AP-2 adaptor complex.",
"journal": "Journal of cell science",
"date": "2006",
"authors": "Schmidt U, Briese S, Leicht K, Schurmann A, Joost HG, Al-Hasani H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "16723738",
"url": "https://glygen.org/publication/PubMed/16723738"
}
]
},
{
"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": "Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins.",
"journal": "Physiological reviews",
"date": "2006",
"authors": "Deeley RG, Westlake C, Cole SP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "16816140",
"url": "https://glygen.org/publication/PubMed/16816140"
}
]
},
{
"title": "Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.",
"journal": "American journal of physiology. Cell physiology",
"date": "2007",
"authors": "Suaud L, Yan W, Rubenstein RC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "16822950",
"url": "https://glygen.org/publication/PubMed/16822950"
}
]
},
{
"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": "Peptide microarray analysis of substrate specificity of the transmembrane Ser/Thr kinase KPI-2 reveals reactivity with cystic fibrosis transmembrane conductance regulator and phosphorylase.",
"journal": "Molecular & cellular proteomics : MCP",
"date": "2006",
"authors": "Wang H, Brautigan DL",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "16887929",
"url": "https://glygen.org/publication/PubMed/16887929"
}
]
},
{
"title": "A role for the deubiquitinating enzyme USP28 in control of the DNA-damage response.",
"journal": "Cell",
"date": "2006",
"authors": "Zhang D, Zaugg K, Mak TW, Elledge SJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "16901786",
"url": "https://glygen.org/publication/PubMed/16901786"
}
]
},
{
"title": "Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.",
"journal": "Cell",
"date": "2006",
"authors": "Younger JM, Chen L, Ren HY, Rosser MF, Turnbull EL, Fan CY, Patterson C, Cyr DM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "16901789",
"url": "https://glygen.org/publication/PubMed/16901789"
}
]
},
{
"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": "A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.",
"journal": "Nature",
"date": "1990",
"authors": "Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "1695717",
"url": "https://glygen.org/publication/PubMed/1695717"
}
]
},
{
"title": "FOXO4 transcriptional activity is regulated by monoubiquitination and USP7/HAUSP.",
"journal": "Nature cell biology",
"date": "2006",
"authors": "van der Horst A, de Vries-Smits AM, Brenkman AB, van Triest MH, van den Broek N, Colland F, Maurice MM, Burgering BM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "16964248",
"url": "https://glygen.org/publication/PubMed/16964248"
}
]
},
{
"title": "Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.",
"journal": "Cell",
"date": "1990",
"authors": "Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1699669",
"url": "https://glygen.org/publication/PubMed/1699669"
}
]
},
{
"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": "In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.",
"journal": "The EMBO journal",
"date": "2006",
"authors": "Mense M, Vergani P, White DM, Altberg G, Nairn AC, Gadsby DC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17036051",
"url": "https://glygen.org/publication/PubMed/17036051"
}
]
},
{
"title": "Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2006",
"authors": "Roxo-Rosa M, Xu Z, Schmidt A, Neto M, Cai Z, Soares CM, Sheppard DN, Amaral MD",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17098864",
"url": "https://glygen.org/publication/PubMed/17098864"
}
]
},
{
"title": "Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.",
"journal": "Genomics",
"date": "1991",
"authors": "Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J R, Rommens J, Tsui L C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1710598",
"url": "https://glygen.org/publication/PubMed/1710598"
}
]
},
{
"title": "Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).",
"journal": "Genomics",
"date": "1991",
"authors": "White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov NI, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1710600",
"url": "https://glygen.org/publication/PubMed/1710600"
}
]
},
{
"title": "Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.",
"journal": "Molecular and cellular biology",
"date": "1991",
"authors": "Gregory RJ, Rich DP, Cheng SH, Souza DW, Paul S, Manavalan P, Anderson MP, Welsh MJ, Smith AE",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "1712898",
"url": "https://glygen.org/publication/PubMed/1712898"
}
]
},
{
"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": "Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel.",
"journal": "Cell",
"date": "1991",
"authors": "Cheng SH, Rich DP, Marshall J, Gregory RJ, Welsh MJ, Smith AE",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569-1",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569-1"
}
],
"reference": [
{
"type": "PubMed",
"id": "1716180",
"url": "https://glygen.org/publication/PubMed/1716180"
}
]
},
{
"title": "Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC.",
"journal": "American journal of physiology. Cell physiology",
"date": "2007",
"authors": "Suaud L, Yan W, Carattino MD, Robay A, Kleyman TR, Rubenstein RC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17182731",
"url": "https://glygen.org/publication/PubMed/17182731"
}
]
},
{
"title": "Asef is a Cdc42-specific guanine nucleotide exchange factor.",
"journal": "Biological chemistry",
"date": "2007",
"authors": "Gotthardt K, Ahmadian MR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "17214551",
"url": "https://glygen.org/publication/PubMed/17214551"
}
]
},
{
"title": "Downregulation of CD4 by human immunodeficiency virus type 1 Nef is dependent on clathrin and involves direct interaction of Nef with the AP2 clathrin adaptor.",
"journal": "Journal of virology",
"date": "2007",
"authors": "Chaudhuri R, Lindwasser OW, Smith WJ, Hurley JH, Bonifacino JS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "17267500",
"url": "https://glygen.org/publication/PubMed/17267500"
}
]
},
{
"title": "The deubiquitinating enzyme USP2a regulates the p53 pathway by targeting Mdm2.",
"journal": "The EMBO journal",
"date": "2007",
"authors": "Stevenson LF, Sparks A, Allende-Vega N, Xirodimas DP, Lane DP, Saville MK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "17290220",
"url": "https://glygen.org/publication/PubMed/17290220"
}
]
},
{
"title": "Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.",
"journal": "Human reproduction (Oxford, England)",
"date": "2007",
"authors": "Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17329263",
"url": "https://glygen.org/publication/PubMed/17329263"
}
]
},
{
"title": "The gamma/sigma1 and alpha/sigma2 hemicomplexes of clathrin adaptors AP-1 and AP-2 harbor the dileucine recognition site.",
"journal": "Molecular biology of the cell",
"date": "2007",
"authors": "Doray B, Lee I, Knisely J, Bu G, Kornfeld S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "17360967",
"url": "https://glygen.org/publication/PubMed/17360967"
}
]
},
{
"title": "CFTR stabilizes ENaC at the plasma membrane.",
"journal": "J. Cyst. Fibros.",
"date": "2007",
"authors": "Lu C, Jiang C, Pribanic S, Rotin D",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17434346",
"url": "https://glygen.org/publication/PubMed/17434346"
}
]
},
{
"title": "Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities.",
"journal": "Nature",
"date": "2007",
"authors": "Stegmeier F, Rape M, Draviam VM, Nalepa G, Sowa ME, Ang XL, McDonald ER 3rd, Li MZ, Hannon GJ, Sorger PK, Kirschner MW, Harper JW, Elledge SJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "17443180",
"url": "https://glygen.org/publication/PubMed/17443180"
}
]
},
{
"title": "Src-dependent phosphorylation of beta2-adaptin dissociates the beta-arrestin-AP-2 complex.",
"journal": "Journal of cell science",
"date": "2007",
"authors": "Fessart D, Simaan M, Zimmerman B, Comeau J, Hamdan FF, Wiseman PW, Bouvier M, Laporte SA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "17456551",
"url": "https://glygen.org/publication/PubMed/17456551"
}
]
},
{
"title": "Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells.",
"journal": "J. Biol. Chem.",
"date": "2007",
"authors": "Swiatecka-Urban Agnieszka, Talebian Laleh, Kanno Eiko, Moreau-Marquis Sophie, Coutermarsh Bonita, Hansen Karyn, Karlson Katherine H, Barnaby Roxanna, Cheney Richard E, Langford George M, Fukuda Mitsunori, Stanton Bruce A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17462998",
"url": "https://glygen.org/publication/PubMed/17462998"
}
]
},
{
"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": "Clathrin-dependent entry of severe acute respiratory syndrome coronavirus into target cells expressing ACE2 with the cytoplasmic tail deleted.",
"journal": "Journal of virology",
"date": "2007",
"authors": "Inoue Y, Tanaka N, Tanaka Y, Inoue S, Morita K, Zhuang M, Hattori T, Sugamura K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "17522231",
"url": "https://glygen.org/publication/PubMed/17522231"
}
]
},
{
"title": "Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4.",
"journal": "Hepatology (Baltimore, Md.)",
"date": "2007",
"authors": "Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, Matsuo M, Ueda K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "17523162",
"url": "https://glygen.org/publication/PubMed/17523162"
}
]
},
{
"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": "CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.",
"journal": "Nat. Struct. Mol. Biol.",
"date": "2007",
"authors": "Baker Jennifer M R, Hudson Rhea P, Kanelis Voula, Choy Wing-Yiu, Thibodeau Patrick H, Thomas Philip J, Forman-Kay Julie D",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "17660831",
"url": "https://glygen.org/publication/PubMed/17660831"
}
]
},
{
"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": "Integrating molecular and network biology to decode endocytosis.",
"journal": "Nature",
"date": "2007",
"authors": "Schmid EM, McMahon HT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "17713526",
"url": "https://glygen.org/publication/PubMed/17713526"
}
]
},
{
"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": "HDAC6 controls major cell response pathways to cytotoxic accumulation of protein aggregates.",
"journal": "Genes & development",
"date": "2007",
"authors": "Boyault C, Zhang Y, Fritah S, Caron C, Gilquin B, Kwon SH, Garrido C, Yao TP, Vourc'h C, Matthias P, Khochbin S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "17785525",
"url": "https://glygen.org/publication/PubMed/17785525"
}
]
},
{
"title": "Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.",
"journal": "The Journal of cell biology",
"date": "2007",
"authors": "Olzmann JA, Li L, Chudaev MV, Chen J, Perez FA, Palmiter RD, Chin LS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "17846173",
"url": "https://glygen.org/publication/PubMed/17846173"
}
]
},
{
"title": "A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.",
"journal": "The Journal of physiology",
"date": "2007",
"authors": "Tammaro P, Ashcroft FM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "17855752",
"url": "https://glygen.org/publication/PubMed/17855752"
}
]
},
{
"title": "Fbw7 and Usp28 regulate myc protein stability in response to DNA damage.",
"journal": "Cell cycle (Georgetown, Tex.)",
"date": "2007",
"authors": "Popov N, Herold S, Llamazares M, Schulein C, Eilers M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "17873522",
"url": "https://glygen.org/publication/PubMed/17873522"
}
]
},
{
"title": "The N-terminal region of ABC50 interacts with eukaryotic initiation factor eIF2 and is a target for regulatory phosphorylation by CK2.",
"journal": "The Biochemical journal",
"date": "2008",
"authors": "Paytubi S, Morrice NA, Boudeau J, Proud CG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "17894550",
"url": "https://glygen.org/publication/PubMed/17894550"
}
]
},
{
"title": "Identification of a lysosomal peptide transport system induced during dendritic cell development.",
"journal": "The Journal of biological chemistry",
"date": "2007",
"authors": "Demirel O, Waibler Z, Kalinke U, Grunebach F, Appel S, Brossart P, Hasilik A, Tampe R, Abele R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "17977821",
"url": "https://glygen.org/publication/PubMed/17977821"
}
]
},
{
"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": "Human USP3 is a chromatin modifier required for S phase progression and genome stability.",
"journal": "Current biology : CB",
"date": "2007",
"authors": "Nicassio F, Corrado N, Vissers JH, Areces LB, Bergink S, Marteijn JA, Geverts B, Houtsmuller AB, Vermeulen W, Di Fiore PP, Citterio E",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "17980597",
"url": "https://glygen.org/publication/PubMed/17980597"
}
]
},
{
"title": "Regulation of early wave of germ cell apoptosis and spermatogenesis by deubiquitinating enzyme CYLD.",
"journal": "Developmental cell",
"date": "2007",
"authors": "Wright A, Reiley WW, Chang M, Jin W, Lee AJ, Zhang M, Sun SC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "17981138",
"url": "https://glygen.org/publication/PubMed/17981138"
}
]
},
{
"title": "A diacidic motif in human immunodeficiency virus type 1 Nef is a novel determinant of binding to AP-2.",
"journal": "Journal of virology",
"date": "2008",
"authors": "Lindwasser OW, Smith WJ, Chaudhuri R, Yang P, Hurley JH, Bonifacino JS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "18032517",
"url": "https://glygen.org/publication/PubMed/18032517"
}
]
},
{
"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": "Molecular basis of synaptic vesicle cargo recognition by the endocytic sorting adaptor stonin 2.",
"journal": "The Journal of cell biology",
"date": "2007",
"authors": "Jung N, Wienisch M, Gu M, Rand JB, Muller SL, Krause G, Jorgensen EM, Klingauf J, Haucke V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "18166656",
"url": "https://glygen.org/publication/PubMed/18166656"
}
]
},
{
"title": "Deubiquitylation of histone H2A activates transcriptional initiation via trans-histone cross-talk with H3K4 di- and trimethylation.",
"journal": "Genes & development",
"date": "2008",
"authors": "Nakagawa T, Kajitani T, Togo S, Masuko N, Ohdan H, Hishikawa Y, Koji T, Matsuyama T, Ikura T, Muramatsu M, Ito T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "18172164",
"url": "https://glygen.org/publication/PubMed/18172164"
}
]
},
{
"title": "The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis.",
"journal": "Molecular biology of the cell",
"date": "2008",
"authors": "N'Diaye EN, Hanyaloglu AC, Kajihara KK, Puthenveedu MA, Wu P, von Zastrow M, Brown EJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "18199683",
"url": "https://glygen.org/publication/PubMed/18199683"
}
]
},
{
"title": "Inhibition of MDR1 expression by retinol treatment increases sensitivity to etoposide (VP16) in human neoplasic cell line.",
"journal": "Toxicology in vitro : an international journal published in association with BIBRA",
"date": "2008",
"authors": "Klamt F, Passos DT, Castro MA, Gelain DP, Grivicich I, Moreira JC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "18282684",
"url": "https://glygen.org/publication/PubMed/18282684"
}
]
},
{
"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": "Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL).",
"journal": "The Journal of biological chemistry",
"date": "2008",
"authors": "Zhao C, Haase W, Tampe R, Abele R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "18434309",
"url": "https://glygen.org/publication/PubMed/18434309"
}
]
},
{
"title": "Regulation of IkappaB kinase-related kinases and antiviral responses by tumor suppressor CYLD.",
"journal": "The Journal of biological chemistry",
"date": "2008",
"authors": "Zhang M, Wu X, Lee AJ, Jin W, Chang M, Wright A, Imaizumi T, Sun SC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "18467330",
"url": "https://glygen.org/publication/PubMed/18467330"
}
]
},
{
"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": "Modulation of protein kinase CK2 activity by fragments of CFTR encompassing F508 may reflect functional links with cystic fibrosis pathogenesis.",
"journal": "Biochemistry",
"date": "2008",
"authors": "Pagano MA, Arrigoni G, Marin O, Sarno S, Meggio F, Treharne KJ, Mehta A, Pinna LA",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "18597485",
"url": "https://glygen.org/publication/PubMed/18597485"
}
]
},
{
"title": "Vasopressin-inducible ubiquitin-specific protease 10 increases ENaC cell surface expression by deubiquitylating and stabilizing sorting nexin 3.",
"journal": "American journal of physiology. Renal physiology",
"date": "2008",
"authors": "Boulkroun S, Ruffieux-Daidie D, Vitagliano JJ, Poirot O, Charles RP, Lagnaz D, Firsov D, Kellenberger S, Staub O",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "18632802",
"url": "https://glygen.org/publication/PubMed/18632802"
}
]
},
{
"title": "The tumour suppressor CYLD is a negative regulator of RIG-I-mediated antiviral response.",
"journal": "EMBO reports",
"date": "2008",
"authors": "Friedman CS, O'Donnell MA, Legarda-Addison D, Ng A, Cardenas WB, Yount JS, Moran TM, Basler CF, Komuro A, Horvath CM, Xavier R, Ting AT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "18636086",
"url": "https://glygen.org/publication/PubMed/18636086"
}
]
},
{
"title": "The chaperone-mediated autophagy receptor organizes in dynamic protein complexes at the lysosomal membrane.",
"journal": "Molecular and cellular biology",
"date": "2008",
"authors": "Bandyopadhyay U, Kaushik S, Varticovski L, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "18644871",
"url": "https://glygen.org/publication/PubMed/18644871"
}
]
},
{
"title": "Assembly and misassembly of cystic fibrosis transmembrane conductance regulator: folding defects caused by deletion of F508 occur before and after the calnexin-dependent association of membrane spanning domain (MSD) 1 and MSD2.",
"journal": "Molecular biology of the cell",
"date": "2008",
"authors": "Rosser MF, Grove DE, Chen L, Cyr DM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "18716059",
"url": "https://glygen.org/publication/PubMed/18716059"
}
]
},
{
"title": "Molecular basis for the sorting of the SNARE VAMP7 into endocytic clathrin-coated vesicles by the ArfGAP Hrb.",
"journal": "Cell",
"date": "2008",
"authors": "Pryor PR, Jackson L, Gray SR, Edeling MA, Thompson A, Sanderson CM, Evans PR, Owen DJ, Luzio JP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "18775314",
"url": "https://glygen.org/publication/PubMed/18775314"
}
]
},
{
"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": "Role of HRB in clathrin-dependent endocytosis.",
"journal": "The Journal of biological chemistry",
"date": "2008",
"authors": "Chaineau M, Danglot L, Proux-Gillardeaux V, Galli T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "18819912",
"url": "https://glygen.org/publication/PubMed/18819912"
}
]
},
{
"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": "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.",
"journal": "Nature",
"date": "2008",
"authors": "Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "18987736",
"url": "https://glygen.org/publication/PubMed/18987736"
}
]
},
{
"title": "One step at a time: endoplasmic reticulum-associated degradation.",
"journal": "Nature reviews. Molecular cell biology",
"date": "2008",
"authors": "Vembar SS, Brodsky JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "19002207",
"url": "https://glygen.org/publication/PubMed/19002207"
}
]
},
{
"title": "USP19 deubiquitinating enzyme supports cell proliferation by stabilizing KPC1, a ubiquitin ligase for p27Kip1.",
"journal": "Molecular and cellular biology",
"date": "2009",
"authors": "Lu Y, Adegoke OA, Nepveu A, Nakayama KI, Bedard N, Cheng D, Peng J, Wing SS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19015242",
"url": "https://glygen.org/publication/PubMed/19015242"
}
]
},
{
"title": "Mechanism of direct bicarbonate transport by the CFTR anion channel.",
"journal": "Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society",
"date": "2009-03",
"authors": "Tang Lin, Fatehi Mohammad, Linsdell Paul",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19019741",
"url": "https://glygen.org/publication/PubMed/19019741"
}
]
},
{
"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": "Mechanistic insight into control of CFTR by AMPK.",
"journal": "The Journal of biological chemistry",
"date": "2009",
"authors": "Kongsuphol P, Cassidy D, Hieke B, Treharne KJ, Schreiber R, Mehta A, Kunzelmann K",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19095655",
"url": "https://glygen.org/publication/PubMed/19095655"
}
]
},
{
"title": "FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.",
"journal": "Cell",
"date": "2009",
"authors": "Dupont S, Mamidi A, Cordenonsi M, Montagner M, Zacchigna L, Adorno M, Martello G, Stinchfield MJ, Soligo S, Morsut L, Inui M, Moro S, Modena N, Argenton F, Newfeld SJ, Piccolo S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19135894",
"url": "https://glygen.org/publication/PubMed/19135894"
}
]
},
{
"title": "A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex.",
"journal": "Nature",
"date": "2008",
"authors": "Kelly BT, McCoy AJ, Spate K, Miller SE, Evans PR, Honing S, Owen DJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "19140243",
"url": "https://glygen.org/publication/PubMed/19140243"
}
]
},
{
"title": "USP17 regulates Ras activation and cell proliferation by blocking RCE1 activity.",
"journal": "The Journal of biological chemistry",
"date": "2009",
"authors": "Burrows JF, Kelvin AA, McFarlane C, Burden RE, McGrattan MJ, De la Vega M, Govender U, Quinn DJ, Dib K, Gadina M, Scott CJ, Johnston JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19188362",
"url": "https://glygen.org/publication/PubMed/19188362"
}
]
},
{
"title": "TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin.",
"journal": "Journal of cell science",
"date": "2009",
"authors": "Coisy-Quivy M, Touzet O, Bourret A, Hipskind RA, Mercier J, Fort P, Philips A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "19258391",
"url": "https://glygen.org/publication/PubMed/19258391"
}
]
},
{
"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": "Beta-arrestin-dependent signaling and trafficking of 7-transmembrane receptors is reciprocally regulated by the deubiquitinase USP33 and the E3 ligase Mdm2.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2009",
"authors": "Shenoy SK, Modi AS, Shukla AK, Xiao K, Berthouze M, Ahn S, Wilkinson KD, Miller WE, Lefkowitz RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19363159",
"url": "https://glygen.org/publication/PubMed/19363159"
}
]
},
{
"title": "The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.",
"journal": "The Journal of biological chemistry",
"date": "2009",
"authors": "Bomberger JM, Barnaby RL, Stanton BA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19398555",
"url": "https://glygen.org/publication/PubMed/19398555"
}
]
},
{
"title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.",
"journal": "Analytical chemistry",
"date": "2009",
"authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569-1",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569-1"
}
],
"reference": [
{
"type": "PubMed",
"id": "19413330",
"url": "https://glygen.org/publication/PubMed/19413330"
}
]
},
{
"title": "AMP-activated protein kinase phosphorylation of the R domain inhibits PKA stimulation of CFTR.",
"journal": "American journal of physiology. Cell physiology",
"date": "2009",
"authors": "King JD Jr, Fitch AC, Lee JK, McCane JE, Mak DO, Foskett JK, Hallows KR",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19419994",
"url": "https://glygen.org/publication/PubMed/19419994"
}
]
},
{
"title": "The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization.",
"journal": "The EMBO journal",
"date": "2009",
"authors": "Berthouze M, Venkataramanan V, Li Y, Shenoy SK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19424180",
"url": "https://glygen.org/publication/PubMed/19424180"
}
]
},
{
"title": "Influx and efflux transport as determinants of melphalan cytotoxicity: Resistance to melphalan in MDR1 overexpressing tumor cell lines.",
"journal": "Biochemical pharmacology",
"date": "2009",
"authors": "Kuhne A, Tzvetkov MV, Hagos Y, Lage H, Burckhardt G, Brockmoller J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "19447222",
"url": "https://glygen.org/publication/PubMed/19447222"
}
]
},
{
"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": "ABC50 promotes translation initiation in mammalian cells.",
"journal": "The Journal of biological chemistry",
"date": "2009",
"authors": "Paytubi S, Wang X, Lam YW, Izquierdo L, Hunter MJ, Jan E, Hundal HS, Proud CG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "19570978",
"url": "https://glygen.org/publication/PubMed/19570978"
}
]
},
{
"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": "CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium.",
"journal": "PLoS biology",
"date": "2009-07",
"authors": "Zhang Liqun, Button Brian, Gabriel Sherif E, Burkett Susan, Yan Yu, Skiadopoulos Mario H, Dang Yan Li, Vogel Leatrice N, McKay Tristan, Mengos April, Boucher Richard C, Collins Peter L, Pickles Raymond J",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19621064",
"url": "https://glygen.org/publication/PubMed/19621064"
}
]
},
{
"title": "NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor.",
"journal": "The Journal of biological chemistry",
"date": "1990",
"authors": "Chen WJ, Goldstein JL, Brown MS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "1968060",
"url": "https://glygen.org/publication/PubMed/1968060"
}
]
},
{
"title": "Multidrug resistance phenotype of human BRO melanoma cells transfected with a wild-type human mdr1 complementary DNA.",
"journal": "Cancer research",
"date": "1990",
"authors": "Lincke CR, van der Bliek AM, Schuurhuis GJ, van der Velde-Koerts T, Smit JJ, Borst P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "1968359",
"url": "https://glygen.org/publication/PubMed/1968359"
}
]
},
{
"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": "Endocytosis and signalling: intertwining molecular networks.",
"journal": "Nature reviews. Molecular cell biology",
"date": "2009",
"authors": "Sorkin A, von Zastrow M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "19696798",
"url": "https://glygen.org/publication/PubMed/19696798"
}
]
},
{
"title": "Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.",
"journal": "The Journal of biological chemistry",
"date": "2009",
"authors": "Wang Z, Kumamoto Y, Wang P, Gan X, Lehmann D, Smrcka AV, Cohn L, Iwasaki A, Li L, Wu D",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "19713215",
"url": "https://glygen.org/publication/PubMed/19713215"
}
]
},
{
"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": "Stonins--specialized adaptors for synaptic vesicle recycling and beyond?",
"journal": "Traffic (Copenhagen, Denmark)",
"date": "2010",
"authors": "Maritzen T, Podufall J, Haucke V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "19732400",
"url": "https://glygen.org/publication/PubMed/19732400"
}
]
},
{
"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": "MdmX is a substrate for the deubiquitinating enzyme USP2a.",
"journal": "Oncogene",
"date": "2010",
"authors": "Allende-Vega N, Sparks A, Lane DP, Saville MK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19838211",
"url": "https://glygen.org/publication/PubMed/19838211"
}
]
},
{
"title": "Arrestin development: emerging roles for beta-arrestins in developmental signaling pathways.",
"journal": "Developmental cell",
"date": "2009",
"authors": "Kovacs JJ, Hara MR, Davenport CL, Kim J, Lefkowitz RJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "19853559",
"url": "https://glygen.org/publication/PubMed/19853559"
}
]
},
{
"title": "MDR1 polymorphism role in patients treated with cetuximab and irinotecan in irinotecan refractory colorectal cancer.",
"journal": "Medical oncology (Northwood, London, England)",
"date": "2010",
"authors": "Paule B, Castagne V, Picard V, Saffroy R, Adam R, Guettier C, Farinotti R, Bonhomme-Faivre L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "19862647",
"url": "https://glygen.org/publication/PubMed/19862647"
}
]
},
{
"title": "USP11 negatively regulates TNFalpha-induced NF-kappaB activation by targeting on IkappaBalpha.",
"journal": "Cellular signalling",
"date": "2010",
"authors": "Sun W, Tan X, Shi Y, Xu G, Mao R, Gu X, Fan Y, Yu Y, Burlingame S, Zhang H, Rednam SP, Lu X, Zhang T, Fu S, Cao G, Qin J, Yang J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19874889",
"url": "https://glygen.org/publication/PubMed/19874889"
}
]
},
{
"title": "Ubiquitin-specific peptidase 21 inhibits tumor necrosis factor alpha-induced nuclear factor kappaB activation via binding to and deubiquitinating receptor-interacting protein 1.",
"journal": "The Journal of biological chemistry",
"date": "2010",
"authors": "Xu G, Tan X, Wang H, Sun W, Shi Y, Burlingame S, Gu X, Cao G, Zhang T, Qin J, Yang J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "19910467",
"url": "https://glygen.org/publication/PubMed/19910467"
}
]
},
{
"title": "CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans.",
"journal": "Human reproduction (Oxford, England)",
"date": "2010-02",
"authors": "Li Chu-Yan, Jiang Ling-Ying, Chen Wen-Ying, Li Kun, Sheng Hui-Qiang, Ni Ya, Lu Jian-Xin, Xu Wan-Xiang, Zhang Song-Ying, Shi Qi-Xian",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19923167",
"url": "https://glygen.org/publication/PubMed/19923167"
}
]
},
{
"title": "Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry.",
"journal": "J. Mol. Biol.",
"date": "2010",
"authors": "Lewis H A, Wang C, Zhao X, Hamuro Y, Conners K, Kearins M C, Lu F, Sauder J M, Molnar K S, Coales S J, Maloney P C, Guggino W B, Wetmore D R, Weber P C, Hunt J F",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "19944699",
"url": "https://glygen.org/publication/PubMed/19944699"
}
]
},
{
"title": "A mutation in the second nucleotide binding fold of the cystic fibrosis gene.",
"journal": "American journal of human genetics",
"date": "1991",
"authors": "Osborne L, Knight R, Santis G, Hodson M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "1998343",
"url": "https://glygen.org/publication/PubMed/1998343"
}
]
},
{
"title": "Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.",
"journal": "American journal of physiology. Lung cellular and molecular physiology",
"date": "2010",
"authors": "Cholon DM, O'Neal WK, Randell SH, Riordan JR, Gentzsch M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569#ptm_processing"
},
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "20008117",
"url": "https://glygen.org/publication/PubMed/20008117"
}
]
},
{
"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": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569-1",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569-1"
}
],
"reference": [
{
"type": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
]
},
{
"title": "USP10 regulates p53 localization and stability by deubiquitinating p53.",
"journal": "Cell",
"date": "2010",
"authors": "Yuan J, Luo K, Zhang L, Cheville JC, Lou Z",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "20096447",
"url": "https://glygen.org/publication/PubMed/20096447"
}
]
},
{
"title": "Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.",
"journal": "Protein engineering, design & selection : PEDS",
"date": "2010",
"authors": "Atwell S, Brouillette CG, Conners K, Emtage S, Gheyi T, Guggino WB, Hendle J, Hunt JF, Lewis HA, Lu F, Protasevich II, Rodgers LA, Romero R, Wasserman SR, Weber PC, Wetmore D, Zhang FF, Zhao X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "20150177",
"url": "https://glygen.org/publication/PubMed/20150177"
}
]
},
{
"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": "Ubiquitin hydrolase Dub3 promotes oncogenic transformation by stabilizing Cdc25A.",
"journal": "Nature cell biology",
"date": "2010",
"authors": "Pereg Y, Liu BY, O'Rourke KM, Sagolla M, Dey A, Komuves L, French DM, Dixit VM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "20228808",
"url": "https://glygen.org/publication/PubMed/20228808"
}
]
},
{
"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-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "20231386",
"url": "https://glygen.org/publication/PubMed/20231386"
}
]
},
{
"title": "Alpha-AP-2 directs myosin VI-dependent endocytosis of cystic fibrosis transmembrane conductance regulator chloride channels in the intestine.",
"journal": "The Journal of biological chemistry",
"date": "2010",
"authors": "Collaco A, Jakab R, Hegan P, Mooseker M, Ameen N",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "20351096",
"url": "https://glygen.org/publication/PubMed/20351096"
}
]
},
{
"title": "The ubiquitin-specific protease 17 is involved in virus-triggered type I IFN signaling.",
"journal": "Cell research",
"date": "2010",
"authors": "Chen R, Zhang L, Zhong B, Tan B, Liu Y, Shu HB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "20368735",
"url": "https://glygen.org/publication/PubMed/20368735"
}
]
},
{
"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": "The deubiquitinating enzyme USP26 is a regulator of androgen receptor signaling.",
"journal": "Molecular cancer research : MCR",
"date": "2010",
"authors": "Dirac AM, Bernards R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "20501646",
"url": "https://glygen.org/publication/PubMed/20501646"
}
]
},
{
"title": "P-glycoprotein, but not multidrug resistance protein 4, plays a role in the systemic clearance of irinotecan and SN-38 in mice.",
"journal": "Drug metabolism letters",
"date": "2010",
"authors": "Tagen M, Zhuang Y, Zhang F, Harstead KE, Shen J, Schaiquevich P, Fraga CH, Panetta JC, Waters CM, Stewart CF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "20583968",
"url": "https://glygen.org/publication/PubMed/20583968"
}
]
},
{
"title": "Differences in assessment of macrolide interaction with human MDR1 (ABCB1, P-gp) using rhodamine-123 efflux, ATPase activity and cellular accumulation assays.",
"journal": "European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences",
"date": "2010",
"authors": "Munic V, Kelneric Z, Mikac L, Erakovic Haber V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "20621639",
"url": "https://glygen.org/publication/PubMed/20621639"
}
]
},
{
"title": "Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.",
"journal": "Clinical and investigative medicine. Medecine clinique et experimentale",
"date": "2010",
"authors": "Tomaiuolo AC, Alghisi F, Petrocchi S, Surace C, Roberti MC, Bella S, Lucidi V, Angioni A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "20691141",
"url": "https://glygen.org/publication/PubMed/20691141"
}
]
},
{
"title": "Identification of regulators of chaperone-mediated autophagy.",
"journal": "Molecular cell",
"date": "2010",
"authors": "Bandyopadhyay U, Sridhar S, Kaushik S, Kiffin R, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "20797626",
"url": "https://glygen.org/publication/PubMed/20797626"
}
]
},
{
"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": "Cse1l is a negative regulator of CFTR-dependent fluid secretion.",
"journal": "Curr. Biol.",
"date": "2010",
"authors": "Bagnat Michel, Navis Adam, Herbstreith Sara, Brand-Arzamendi Koroboshka, Curado Silvia, Gabriel Sherif, Mostov Keith, Huisken Jan, Stainier Didier Y R",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "20933420",
"url": "https://glygen.org/publication/PubMed/20933420"
}
]
},
{
"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": "State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.",
"journal": "The Journal of biological chemistry",
"date": "2010",
"authors": "Wang G",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "20952391",
"url": "https://glygen.org/publication/PubMed/20952391"
}
]
},
{
"title": "Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.",
"journal": "The New England journal of medicine",
"date": "2010",
"authors": "Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordonez CL, Campbell PW, Ashlock MA, Ramsey BW",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "21083385",
"url": "https://glygen.org/publication/PubMed/21083385"
}
]
},
{
"title": "CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.",
"journal": "The EMBO journal",
"date": "2011",
"authors": "Granata A, Koo SJ, Haucke V, Schiavo G, Warner TT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "21102408",
"url": "https://glygen.org/publication/PubMed/21102408"
}
]
},
{
"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": "Microautophagy of cytosolic proteins by late endosomes.",
"journal": "Developmental cell",
"date": "2011",
"authors": "Sahu R, Kaushik S, Clement CC, Cannizzo ES, Scharf B, Follenzi A, Potolicchio I, Nieves E, Cuervo AM, Santambrogio L",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9615710",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710"
}
],
"reference": [
{
"type": "PubMed",
"id": "21238931",
"url": "https://glygen.org/publication/PubMed/21238931"
}
]
},
{
"title": "Lys-63-specific deubiquitination of SDS3 by USP17 regulates HDAC activity.",
"journal": "The Journal of biological chemistry",
"date": "2011",
"authors": "Ramakrishna S, Suresh B, Lee EJ, Lee HJ, Ahn WS, Baek KH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21239494",
"url": "https://glygen.org/publication/PubMed/21239494"
}
]
},
{
"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": "Chaperone-mediated autophagy at a glance.",
"journal": "Journal of cell science",
"date": "2011",
"authors": "Kaushik S, Bandyopadhyay U, Sridhar S, Kiffin R, Martinez-Vicente M, Kon M, Orenstein SJ, Wong E, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "21282471",
"url": "https://glygen.org/publication/PubMed/21282471"
}
]
},
{
"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 child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.",
"journal": "Journal of medical genetics",
"date": "1990",
"authors": "Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, Van den Berghe H, Cassiman JJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "2135388",
"url": "https://glygen.org/publication/PubMed/2135388"
}
]
},
{
"title": "USP47 is a deubiquitylating enzyme that regulates base excision repair by controlling steady-state levels of DNA polymerase beta.",
"journal": "Molecular cell",
"date": "2011",
"authors": "Parsons JL, Dianova II, Khoronenkova SV, Edelmann MJ, Kessler BM, Dianov GL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21362556",
"url": "https://glygen.org/publication/PubMed/21362556"
}
]
},
{
"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": "Mechanistic insights into specificity, activity, and regulatory elements of the regulator of G-protein signaling (RGS)-containing Rho-specific guanine nucleotide exchange factors (GEFs) p115, PDZ-RhoGEF (PRG), and leukemia-associated RhoGEF (LARG).",
"journal": "The Journal of biological chemistry",
"date": "2011",
"authors": "Jaiswal M, Gremer L, Dvorsky R, Haeusler LC, Cirstea IC, Uhlenbrock K, Ahmadian MR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "21454492",
"url": "https://glygen.org/publication/PubMed/21454492"
}
]
},
{
"title": "Structural models of CFTR-AMPK and CFTR-PKA interactions: R-domain flexibility is a key factor in CFTR regulation.",
"journal": "Journal of molecular modeling",
"date": "2012",
"authors": "Siwiak M, Edelman A, Zielenkiewicz P",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "21455600",
"url": "https://glygen.org/publication/PubMed/21455600"
}
]
},
{
"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": "Ubiquitin-recognition protein Ufd1 couples the endoplasmic reticulum (ER) stress response to cell cycle control.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2011",
"authors": "Chen M, Gutierrez GJ, Ronai ZA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21571647",
"url": "https://glygen.org/publication/PubMed/21571647"
}
]
},
{
"title": "Deubiquitinase USP37 is activated by CDK2 to antagonize APC(CDH1) and promote S phase entry.",
"journal": "Molecular cell",
"date": "2011",
"authors": "Huang X, Summers MK, Pham V, Lill JR, Liu J, Lee G, Kirkpatrick DS, Jackson PK, Fang G, Dixit VM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21596315",
"url": "https://glygen.org/publication/PubMed/21596315"
}
]
},
{
"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": "Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment.",
"journal": "Chest",
"date": "2011",
"authors": "Rogan MP, Stoltz DA, Hornick DB",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "21652558",
"url": "https://glygen.org/publication/PubMed/21652558"
}
]
},
{
"title": "USP13 enzyme regulates Siah2 ligase stability and activity via noncatalytic ubiquitin-binding domains.",
"journal": "The Journal of biological chemistry",
"date": "2011",
"authors": "Scortegagna M, Subtil T, Qi J, Kim H, Zhao W, Gu W, Kluger H, Ronai ZA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21659512",
"url": "https://glygen.org/publication/PubMed/21659512"
}
]
},
{
"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": "Antagonistic regulation of cystic fibrosis transmembrane conductance regulator cell surface expression by protein kinases WNK4 and spleen tyrosine kinase.",
"journal": "Molecular and cellular biology",
"date": "2011",
"authors": "Mendes AI, Matos P, Moniz S, Luz S, Amaral MD, Farinha CM, Jordan P",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "21807898",
"url": "https://glygen.org/publication/PubMed/21807898"
}
]
},
{
"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": "The USP19 deubiquitinase regulates the stability of c-IAP1 and c-IAP2.",
"journal": "The Journal of biological chemistry",
"date": "2011",
"authors": "Mei Y, Hahn AA, Hu S, Yang X",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21849505",
"url": "https://glygen.org/publication/PubMed/21849505"
}
]
},
{
"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": "Rescue of DeltaF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway.",
"journal": "Cell",
"date": "2011",
"authors": "Gee HY, Noh SH, Tang BL, Kim KH, Lee MG",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "21884936",
"url": "https://glygen.org/publication/PubMed/21884936"
}
]
},
{
"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": "Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.",
"journal": "Molecular and cellular biology",
"date": "2011",
"authors": "Luz S, Kongsuphol P, Mendes AI, Romeiras F, Sousa M, Schreiber R, Matos P, Jordan P, Mehta A, Amaral MD, Kunzelmann K, Farinha CM",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "21930781",
"url": "https://glygen.org/publication/PubMed/21930781"
}
]
},
{
"title": "The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.",
"journal": "J. Biol. Chem.",
"date": "2011",
"authors": "Rosenberg Mark F, O'Ryan Liam P, Hughes Guy, Zhao Zhefeng, Aleksandrov Luba A, Riordan John R, Ford Robert C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "21931164",
"url": "https://glygen.org/publication/PubMed/21931164"
}
]
},
{
"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": "Beclin1 controls the levels of p53 by regulating the deubiquitination activity of USP10 and USP13.",
"journal": "Cell",
"date": "2011",
"authors": "Liu J, Xia H, Kim M, Xu L, Li Y, Zhang L, Cai Y, Norberg HV, Zhang T, Furuya T, Jin M, Zhu Z, Wang H, Yu J, Li Y, Hao Y, Choi A, Ke H, Ma D, Yuan J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "21962518",
"url": "https://glygen.org/publication/PubMed/21962518"
}
]
},
{
"title": "Dab2 is a key regulator of endocytosis and post-endocytic trafficking of the cystic fibrosis transmembrane conductance regulator.",
"journal": "The Biochemical journal",
"date": "2012",
"authors": "Fu L, Rab A, Tang LP, Rowe SM, Bebok Z, Collawn JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "21995445",
"url": "https://glygen.org/publication/PubMed/21995445"
}
]
},
{
"title": "Ubiquitin-specific protease 4 (USP4) targets TRAF2 and TRAF6 for deubiquitination and inhibits TNFalpha-induced cancer cell migration.",
"journal": "The Biochemical journal",
"date": "2012",
"authors": "Xiao N, Li H, Luo J, Wang R, Chen H, Chen J, Wang P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "22029577",
"url": "https://glygen.org/publication/PubMed/22029577"
}
]
},
{
"title": "Peptide sequences that target cytosolic proteins for lysosomal proteolysis.",
"journal": "Trends in biochemical sciences",
"date": "1990",
"authors": "Dice JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9615710",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710"
}
],
"reference": [
{
"type": "PubMed",
"id": "2204156",
"url": "https://glygen.org/publication/PubMed/2204156"
}
]
},
{
"title": "A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.",
"journal": "The New England journal of medicine",
"date": "2011",
"authors": "Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Drevinek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordonez C, Elborn JS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "22047557",
"url": "https://glygen.org/publication/PubMed/22047557"
}
]
},
{
"title": "Regulation of p53 stability and function by the deubiquitinating enzyme USP42.",
"journal": "The EMBO journal",
"date": "2011",
"authors": "Hock AK, Vigneron AM, Carter S, Ludwig RL, Vousden KH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "22085928",
"url": "https://glygen.org/publication/PubMed/22085928"
}
]
},
{
"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": "Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.",
"journal": "Human genetics",
"date": "1990",
"authors": "Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "2210768",
"url": "https://glygen.org/publication/PubMed/2210768"
}
]
},
{
"title": "The molecular basis for the endocytosis of small R-SNAREs by the clathrin adaptor CALM.",
"journal": "Cell",
"date": "2011",
"authors": "Miller SE, Sahlender DA, Graham SC, Honing S, Robinson MS, Peden AA, Owen DJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "22118466",
"url": "https://glygen.org/publication/PubMed/22118466"
}
]
},
{
"title": "Purification of CFTR for mass spectrometry analysis: identification of palmitoylation and other post-translational modifications.",
"journal": "Protein engineering, design & selection : PEDS",
"date": "2012",
"authors": "McClure M, DeLucas LJ, Wilson L, Ray M, Rowe SM, Wu X, Dai Q, Hong JS, Sorscher EJ, Kappes JC, Barnes S",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
}
]
},
{
"title": "The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.",
"journal": "Hum. Mol. Genet.",
"date": "2012",
"authors": "Rode Baptiste, Dirami Thassadite, Bakouh Naziha, Rizk-Rabin Marthe, Norez Caroline, Lhuillier Pierre, Lor\u00e8s Patrick, Jollivet Mathilde, Melin Patricia, Zvetkova Ilona, Bienvenu Thierry, Becq Fr\u00e9d\u00e9ric, Planelles Gabrielle, Edelman Aleksander, Gacon G\u00e9rard, Tour\u00e9 Aminata",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "22121115",
"url": "https://glygen.org/publication/PubMed/22121115"
}
]
},
{
"title": "Ubiquitin-specific protease 19 (USP19) regulates hypoxia-inducible factor 1alpha (HIF-1alpha) during hypoxia.",
"journal": "The Journal of biological chemistry",
"date": "2012",
"authors": "Altun M, Zhao B, Velasco K, Liu H, Hassink G, Paschke J, Pereira T, Lindsten K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "22128162",
"url": "https://glygen.org/publication/PubMed/22128162"
}
]
},
{
"title": "CFTR and TMEM16A are separate but functionally related Cl- channels.",
"journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology",
"date": "2011",
"authors": "Ousingsawat J, Kongsuphol P, Schreiber R, Kunzelmann K",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "22178883",
"url": "https://glygen.org/publication/PubMed/22178883"
}
]
},
{
"title": "Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.",
"journal": "Histochem. Cell Biol.",
"date": "2012",
"authors": "Enuka Yehoshua, Hanukoglu Israel, Edelheit Oded, Vaknine Hananya, Hanukoglu Aaron",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "22207244",
"url": "https://glygen.org/publication/PubMed/22207244"
}
]
},
{
"title": "Domain analysis reveals that a deubiquitinating enzyme USP13 performs non-activating catalysis for Lys63-linked polyubiquitin.",
"journal": "PloS one",
"date": "2011",
"authors": "Zhang YH, Zhou CJ, Zhou ZR, Song AX, Hu HY",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "22216260",
"url": "https://glygen.org/publication/PubMed/22216260"
}
]
},
{
"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": "Drug bests cystic-fibrosis mutation.",
"journal": "Nature",
"date": "2012",
"authors": "Ledford H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "22318583",
"url": "https://glygen.org/publication/PubMed/22318583"
}
]
},
{
"title": "The role of ubiquitylation in receptor endocytosis and endosomal sorting.",
"journal": "Journal of cell science",
"date": "2012",
"authors": "Haglund K, Dikic I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "22357968",
"url": "https://glygen.org/publication/PubMed/22357968"
}
]
},
{
"title": "Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1990",
"authors": "Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "2236053",
"url": "https://glygen.org/publication/PubMed/2236053"
}
]
},
{
"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": "Transferrin receptor internalization sequence YXRF implicates a tight turn as the structural recognition motif for endocytosis.",
"journal": "Cell",
"date": "1990",
"authors": "Collawn JF, Stangel M, Kuhn LA, Esekogwu V, Jing SQ, Trowbridge IS, Tainer JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "2257624",
"url": "https://glygen.org/publication/PubMed/2257624"
}
]
},
{
"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": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.",
"journal": "Nature genetics",
"date": "2012",
"authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R",
"evidence": [
{
"database": "dbSNP",
"id": "rs397508235",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397508235"
}
],
"reference": [
{
"type": "PubMed",
"id": "22842228",
"url": "https://glygen.org/publication/PubMed/22842228"
}
]
},
{
"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": "The epsin protein family: coordinators of endocytosis and signaling.",
"journal": "Biomolecular concepts",
"date": "2012",
"authors": "Sen A, Madhivanan K, Mukherjee D, Aguilar RC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "22942912",
"url": "https://glygen.org/publication/PubMed/22942912"
}
]
},
{
"title": "Characterisation of the roles of ABCB1, ABCC1, ABCC2 and ABCG2 in the transport and pharmacokinetics of actinomycin D in vitro and in vivo.",
"journal": "Biochemical pharmacology",
"date": "2013",
"authors": "Hill CR, Jamieson D, Thomas HD, Brown CD, Boddy AV, Veal GJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "23063411",
"url": "https://glygen.org/publication/PubMed/23063411"
}
]
},
{
"title": "The deubiquitinating protein USP24 interacts with DDB2 and regulates DDB2 stability.",
"journal": "Cell cycle (Georgetown, Tex.)",
"date": "2012",
"authors": "Zhang L, Lubin A, Chen H, Sun Z, Gong F",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "23159851",
"url": "https://glygen.org/publication/PubMed/23159851"
}
]
},
{
"title": "Deciphering the molecular and functional basis of Dbl family proteins: a novel systematic approach toward classification of selective activation of the Rho family proteins.",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "Jaiswal M, Dvorsky R, Ahmadian MR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "23255595",
"url": "https://glygen.org/publication/PubMed/23255595"
}
]
},
{
"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": "Identification of the E3 deubiquitinase ubiquitin-specific peptidase 21 (USP21) as a positive regulator of the transcription factor GATA3.",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "Zhang J, Chen C, Hou X, Gao Y, Lin F, Yang J, Gao Z, Pan L, Tao L, Wen C, Yao Z, Tsun A, Shi G, Li B",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "23395819",
"url": "https://glygen.org/publication/PubMed/23395819"
}
]
},
{
"title": "USP33 regulates centrosome biogenesis via deubiquitination of the centriolar protein CP110.",
"journal": "Nature",
"date": "2013",
"authors": "Li J, D'Angiolella V, Seeley ES, Kim S, Kobayashi T, Fu W, Campos EI, Pagano M, Dynlacht BD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "23486064",
"url": "https://glygen.org/publication/PubMed/23486064"
}
]
},
{
"title": "Reduction of oxidative stress during recovery accelerates normalization of primary cilia length that is altered after ischemic injury in murine kidneys.",
"journal": "American journal of physiology. Renal physiology",
"date": "2013",
"authors": "Kim JI, Kim J, Jang HS, Noh MR, Lipschutz JH, Park KM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "23515720",
"url": "https://glygen.org/publication/PubMed/23515720"
}
]
},
{
"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": "Ubiquitination and degradation of CFTR by the E3 ubiquitin ligase MARCH2 through its association with adaptor proteins CAL and STX6.",
"journal": "PloS one",
"date": "2013",
"authors": "Cheng J, Guggino W",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "23818989",
"url": "https://glygen.org/publication/PubMed/23818989"
}
]
},
{
"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": "USP49 deubiquitinates histone H2B and regulates cotranscriptional pre-mRNA splicing.",
"journal": "Genes & development",
"date": "2013",
"authors": "Zhang Z, Jones A, Joo HY, Zhou D, Cao Y, Chen S, Erdjument-Bromage H, Renfrow M, He H, Tempst P, Townes TM, Giles KE, Ma L, Wang H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "23824326",
"url": "https://glygen.org/publication/PubMed/23824326"
}
]
},
{
"title": "USP18 inhibits NF-kappaB and NFAT activation during Th17 differentiation by deubiquitinating the TAK1-TAB1 complex.",
"journal": "The Journal of experimental medicine",
"date": "2013",
"authors": "Liu X, Li H, Zhong B, Blonska M, Gorjestani S, Yan M, Tian Q, Zhang DE, Lin X, Dong C",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "23825189",
"url": "https://glygen.org/publication/PubMed/23825189"
}
]
},
{
"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": "RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "El Khouri E, Le Pavec G, Toledano MB, Delaunay-Moisan A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "24019521",
"url": "https://glygen.org/publication/PubMed/24019521"
}
]
},
{
"title": "Deubiquitinating enzyme Usp12 is a novel co-activator of the androgen receptor.",
"journal": "The Journal of biological chemistry",
"date": "2013",
"authors": "Burska UL, Harle VJ, Coffey K, Darby S, Ramsey H, O'Neill D, Logan IR, Gaughan L, Robson CN",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "24056413",
"url": "https://glygen.org/publication/PubMed/24056413"
}
]
},
{
"title": "Detection of phospho-sites generated by protein kinase CK2 in CFTR: mechanistic aspects of Thr1471 phosphorylation.",
"journal": "PloS one",
"date": "2013",
"authors": "Venerando A, Franchin C, Cant N, Cozza G, Pagano MA, Tosoni K, Al-Zahrani A, Arrigoni G, Ford RC, Mehta A, Pinna LA",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "24058532",
"url": "https://glygen.org/publication/PubMed/24058532"
}
]
},
{
"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": "Phosphorylation of cystic fibrosis transmembrane conductance regulator (CFTR) serine-511 by the combined action of tyrosine kinases and CK2: the implication of tyrosine-512 and phenylalanine-508.",
"journal": "Amino acids",
"date": "2013",
"authors": "Cesaro L, Marin O, Venerando A, Donella-Deana A, Pinna LA",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "24178769",
"url": "https://glygen.org/publication/PubMed/24178769"
}
]
},
{
"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-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "24186068",
"url": "https://glygen.org/publication/PubMed/24186068"
}
]
},
{
"title": "Histone deacetylase 6-mediated selective autophagy regulates COPD-associated cilia dysfunction.",
"journal": "The Journal of clinical investigation",
"date": "2013",
"authors": "Lam HC, Cloonan SM, Bhashyam AR, Haspel JA, Singh A, Sathirapongsasuti JF, Cervo M, Yao H, Chung AL, Mizumura K, An CH, Shan B, Franks JM, Haley KJ, Owen CA, Tesfaigzi Y, Washko GR, Quackenbush J, Silverman EK, Rahman I, Kim HP, Mahmood A, Biswal SS, Ryter SW, Choi AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "24200693",
"url": "https://glygen.org/publication/PubMed/24200693"
}
]
},
{
"title": "Ubiquitin-specific proteases 25 negatively regulates virus-induced type I interferon signaling.",
"journal": "PloS one",
"date": "2013",
"authors": "Zhong H, Wang D, Fang L, Zhang H, Luo R, Shang M, Ouyang C, Ouyang H, Chen H, Xiao S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "24260525",
"url": "https://glygen.org/publication/PubMed/24260525"
}
]
},
{
"title": "Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2013",
"authors": "Mayer S, Kumar R, Jaiswal M, Soykan T, Ahmadian MR, Brose N, Betz H, Rhee JS, Papadopoulos T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "24297911",
"url": "https://glygen.org/publication/PubMed/24297911"
}
]
},
{
"title": "IQGAP1 is a key node within the small GTPase network.",
"journal": "Small GTPases",
"date": "2013",
"authors": "Jacquemet G, Humphries MJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "24355937",
"url": "https://glygen.org/publication/PubMed/24355937"
}
]
},
{
"title": "Ubiquitin-dependent sorting in endocytosis.",
"journal": "Cold Spring Harbor perspectives in biology",
"date": "2014",
"authors": "Piper RC, Dikic I, Lukacs GL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "24384571",
"url": "https://glygen.org/publication/PubMed/24384571"
}
]
},
{
"title": "USP21 negatively regulates antiviral response by acting as a RIG-I deubiquitinase.",
"journal": "The Journal of experimental medicine",
"date": "2014",
"authors": "Fan Y, Mao R, Yu Y, Liu S, Shi Z, Cheng J, Zhang H, An L, Zhao Y, Xu X, Chen Z, Kogiso M, Zhang D, Zhang H, Zhang P, Jung JU, Li X, Xu G, Yang J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "24493797",
"url": "https://glygen.org/publication/PubMed/24493797"
}
]
},
{
"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": "Role of beta-arrestins and arrestin domain-containing proteins in G protein-coupled receptor trafficking.",
"journal": "Current opinion in cell biology",
"date": "2014",
"authors": "Kang DS, Tian X, Benovic JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "24680432",
"url": "https://glygen.org/publication/PubMed/24680432"
}
]
},
{
"title": "Biosynthesis of cystic fibrosis transmembrane conductance regulator.",
"journal": "The international journal of biochemistry & cell biology",
"date": "2014",
"authors": "Pranke IM, Sermet-Gaudelus I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "24685677",
"url": "https://glygen.org/publication/PubMed/24685677"
}
]
},
{
"title": "LMTK2-mediated phosphorylation regulates CFTR endocytosis in human airway epithelial cells.",
"journal": "The Journal of biological chemistry",
"date": "2014",
"authors": "Luz S, Cihil KM, Brautigan DL, Amaral MD, Farinha CM, Swiatecka-Urban A",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "24727471",
"url": "https://glygen.org/publication/PubMed/24727471"
}
]
},
{
"title": "Regulation of clathrin-mediated endocytosis by dynamic ubiquitination and deubiquitination.",
"journal": "Current biology : CB",
"date": "2014",
"authors": "Weinberg JS, Drubin DG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "24746795",
"url": "https://glygen.org/publication/PubMed/24746795"
}
]
},
{
"title": "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.",
"journal": "Science",
"date": "1989",
"authors": "Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "2475911",
"url": "https://glygen.org/publication/PubMed/2475911"
}
]
},
{
"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": "The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.",
"journal": "Nature",
"date": "2014",
"authors": "Bingol B, Tea JS, Phu L, Reichelt M, Bakalarski CE, Song Q, Foreman O, Kirkpatrick DS, Sheng M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "24896179",
"url": "https://glygen.org/publication/PubMed/24896179"
}
]
},
{
"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": "Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency.",
"journal": "International journal of rheumatology",
"date": "2014",
"authors": "Abdul Wahab A, Hammoudeh M, Allangawi M, Al-Khalaf F, Chandra P",
"evidence": [
{
"database": "Entrez",
"id": "1080",
"url": "https://www.ncbi.nlm.nih.gov/gene/1080"
}
],
"reference": [
{
"type": "PubMed",
"id": "25093022",
"url": "https://glygen.org/publication/PubMed/25093022"
}
]
},
{
"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": "Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.",
"journal": "BioMed research international",
"date": "2014",
"authors": "Morita SY, Terada T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "25133187",
"url": "https://glygen.org/publication/PubMed/25133187"
}
]
},
{
"title": "Deubiquitination and stabilization of IL-33 by USP21.",
"journal": "International journal of clinical and experimental pathology",
"date": "2014",
"authors": "Tao L, Chen C, Song H, Piccioni M, Shi G, Li B",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "25197364",
"url": "https://glygen.org/publication/PubMed/25197364"
}
]
},
{
"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": "The histone H2A deubiquitinase USP16 interacts with HERC2 and fine-tunes cellular response to DNA damage.",
"journal": "The Journal of biological chemistry",
"date": "2014",
"authors": "Zhang Z, Yang H, Wang H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "25305019",
"url": "https://glygen.org/publication/PubMed/25305019"
}
]
},
{
"title": "The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation.",
"journal": "Proteomics",
"date": "2015",
"authors": "Pasyk S, Molinski S, Ahmadi S, Ramjeesingh M, Huan LJ, Chin S, Du K, Yeger H, Taylor P, Moran MF, Bear CE",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
}
]
},
{
"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 deubiquitinating enzyme USP24 is a regulator of the UV damage response.",
"journal": "Cell reports",
"date": "2015",
"authors": "Zhang L, Nemzow L, Chen H, Lubin A, Rong X, Sun Z, Harris TK, Gong F",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "25578727",
"url": "https://glygen.org/publication/PubMed/25578727"
}
]
},
{
"title": "Ivacaftor: a novel mutation modulating drug.",
"journal": "Journal of clinical and diagnostic research : JCDR",
"date": "2014",
"authors": "Kapoor H, Koolwal A, Singh A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "25584290",
"url": "https://glygen.org/publication/PubMed/25584290"
}
]
},
{
"title": "Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.",
"journal": "The Journal of biological chemistry",
"date": "2015",
"authors": "Papadopoulos T, Schemm R, Grubmuller H, Brose N",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "25678704",
"url": "https://glygen.org/publication/PubMed/25678704"
}
]
},
{
"title": "Transepithelial transport of drugs by the multidrug transporter in cultured Madin-Darby canine kidney cell epithelia.",
"journal": "The Journal of biological chemistry",
"date": "1989",
"authors": "Horio M, Chin KV, Currier SJ, Goldenberg S, Williams C, Pastan I, Gottesman MM, Handler J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "2570070",
"url": "https://glygen.org/publication/PubMed/2570070"
}
]
},
{
"title": "Identification of the cystic fibrosis gene: genetic analysis.",
"journal": "Science (New York, N.Y.)",
"date": "1989",
"authors": "Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "2570460",
"url": "https://glygen.org/publication/PubMed/2570460"
}
]
},
{
"title": "Degradation of lipid droplet-associated proteins by chaperone-mediated autophagy facilitates lipolysis.",
"journal": "Nature cell biology",
"date": "2015",
"authors": "Kaushik S, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9615710",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710"
}
],
"reference": [
{
"type": "PubMed",
"id": "25961502",
"url": "https://glygen.org/publication/PubMed/25961502"
}
]
},
{
"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": "Lysosomal mTORC2/PHLPP1/Akt Regulate Chaperone-Mediated Autophagy.",
"journal": "Molecular cell",
"date": "2015",
"authors": "Arias E, Koga H, Diaz A, Mocholi E, Patel B, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "26118642",
"url": "https://glygen.org/publication/PubMed/26118642"
}
]
},
{
"title": "Temozolomide competes for P-glycoprotein and contributes to chemoresistance in glioblastoma cells.",
"journal": "Cancer letters",
"date": "2015",
"authors": "Munoz JL, Walker ND, Scotto KW, Rameshwar P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "26208431",
"url": "https://glygen.org/publication/PubMed/26208431"
}
]
},
{
"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": "Binding screen for cystic fibrosis transmembrane conductance regulator correctors finds new chemical matter and yields insights into cystic fibrosis therapeutic strategy.",
"journal": "Protein Sci.",
"date": "2016",
"authors": "Hall Justin D, Wang Hong, Byrnes Laura J, Shanker Suman, Wang Kelong, Efremov Ivan V, Chong P Andrew, Forman-Kay Julie D, Aulabaugh Ann E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "26444971",
"url": "https://glygen.org/publication/PubMed/26444971"
}
]
},
{
"title": "Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop.",
"journal": "The Journal of biological chemistry",
"date": "2016-01-22",
"authors": "Ehrhardt Annette, Chung W Joon, Pyle Louise C, Wang Wei, Nowotarski Krzysztof, Mulvihill Cory M, Ramjeesingh Mohabir, Hong Jeong, Velu Sadanandan E, Lewis Hal A, Atwell Shane, Aller Steve, Bear Christine E, Lukacs Gergely L, Kirk Kevin L, Sorscher Eric J",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "26627831",
"url": "https://glygen.org/publication/PubMed/26627831"
}
]
},
{
"title": "Airway acidification initiates host defense abnormalities in cystic fibrosis mice.",
"journal": "Science (New York, N.Y.)",
"date": "2016",
"authors": "Shah VS, Meyerholz DK, Tang XX, Reznikov L, Abou Alaiwa M, Ernst SE, Karp PH, Wohlford-Lenane CL, Heilmann KP, Leidinger MR, Allen PD, Zabner J, McCray PB Jr, Ostedgaard LS, Stoltz DA, Randak CO, Welsh MJ",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "26823428",
"url": "https://glygen.org/publication/PubMed/26823428"
}
]
},
{
"title": "beta-Arrestin drives MAP kinase signalling from clathrin-coated structures after GPCR dissociation.",
"journal": "Nature cell biology",
"date": "2016",
"authors": "Eichel K, Jullie D, von Zastrow M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "26829388",
"url": "https://glygen.org/publication/PubMed/26829388"
}
]
},
{
"title": "On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.",
"journal": "The Journal of physiology",
"date": "2016",
"authors": "Yu YC, Sohma Y, Hwang TC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "26846474",
"url": "https://glygen.org/publication/PubMed/26846474"
}
]
},
{
"title": "Rattlesnake Phospholipase A2 Increases CFTR-Chloride Channel Current and Corrects F508CFTR Dysfunction: Impact in Cystic Fibrosis.",
"journal": "Journal of molecular biology",
"date": "2016",
"authors": "Faure G, Bakouh N, Lourdel S, Odolczyk N, Premchandar A, Servel N, Hatton A, Ostrowski MK, Xu H, Saul FA, Moquereau C, Bitam S, Pranke I, Planelles G, Teulon J, Herrmann H, Roldan A, Zielenkiewicz P, Dadlez M, Lukacs GL, Sermet-Gaudelus I, Ollero M, Corringer PJ, Edelman A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "27241308",
"url": "https://glygen.org/publication/PubMed/27241308"
}
]
},
{
"title": "Deciphering the Molecular and Functional Basis of RHOGAP Family Proteins: A SYSTEMATIC APPROACH TOWARD SELECTIVE INACTIVATION OF RHO FAMILY PROTEINS.",
"journal": "The Journal of biological chemistry",
"date": "2016",
"authors": "Amin E, Jaiswal M, Derewenda U, Reis K, Nouri K, Koessmeier KT, Aspenstrom P, Somlyo AV, Dvorsky R, Ahmadian MR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "27481945",
"url": "https://glygen.org/publication/PubMed/27481945"
}
]
},
{
"title": "Essential Role of CFTR in PKA-Dependent Phosphorylation, Alkalinization, and Hyperpolarization During Human Sperm Capacitation.",
"journal": "Journal of cellular physiology",
"date": "2017-06",
"authors": "Puga Molina Lis C, Pinto Nicol\u00e1s A, Torres Rodr\u00edguez Paulina, Romarowski Ana, Vicens Sanchez Alberto, Visconti Pablo E, Darszon Alberto, Trevi\u00f1o Claudia L, Buffone Mariano G",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "27714810",
"url": "https://glygen.org/publication/PubMed/27714810"
}
]
},
{
"title": "deltabetagamma-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.",
"journal": "American journal of physiology. Lung cellular and molecular physiology",
"date": "2017",
"authors": "Rauh R, Hoerner C, Korbmacher C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "27941075",
"url": "https://glygen.org/publication/PubMed/27941075"
}
]
},
{
"title": "A role for a 70-kilodalton heat shock protein in lysosomal degradation of intracellular proteins.",
"journal": "Science (New York, N.Y.)",
"date": "1989",
"authors": "Chiang HL, Terlecky SR, Plant CP, Dice JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9615710",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710"
}
],
"reference": [
{
"type": "PubMed",
"id": "2799391",
"url": "https://glygen.org/publication/PubMed/2799391"
}
]
},
{
"title": "Direct Measurement of Trafficking of the Cystic Fibrosis Transmembrane Conductance Regulator to the Cell Surface and Binding to a Chemical Chaperone.",
"journal": "Biochemistry",
"date": "2017",
"authors": "Zhang Z, Baksh MM, Finn MG, Heidary DK, Richards CI",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "28001373",
"url": "https://glygen.org/publication/PubMed/28001373"
}
]
},
{
"title": "Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.",
"journal": "The Journal of biological chemistry",
"date": "2017",
"authors": "Chin S, Yang D, Miles AJ, Eckford PDW, Molinski S, Wallace BA, Bear CE",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "28003367",
"url": "https://glygen.org/publication/PubMed/28003367"
}
]
},
{
"title": "Sec16A is critical for both conventional and unconventional secretion of CFTR.",
"journal": "Scientific reports",
"date": "2017",
"authors": "Piao H, Kim J, Noh SH, Kweon HS, Kim JY, Lee MG",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "28067262",
"url": "https://glygen.org/publication/PubMed/28067262"
}
]
},
{
"title": "Two Small Molecules Restore Stability to a Subpopulation of the Cystic Fibrosis Transmembrane Conductance Regulator with the Predominant Disease-causing Mutation.",
"journal": "The Journal of biological chemistry",
"date": "2017",
"authors": "Meng X, Wang Y, Wang X, Wrennall JA, Rimington TL, Li H, Cai Z, Ford RC, Sheppard DN",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "28087700",
"url": "https://glygen.org/publication/PubMed/28087700"
}
]
},
{
"title": "Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.",
"journal": "Histochem. Cell Biol.",
"date": "2017",
"authors": "Hanukoglu Israel, Boggula Vijay R, Vaknine Hananya, Sharma Sachin, Kleyman Thomas, Hanukoglu Aaron",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "28130590",
"url": "https://glygen.org/publication/PubMed/28130590"
}
]
},
{
"title": "Polymorphisms in the multidrug-resistance 1 gene related to glucocorticoid response in rheumatoid arthritis treatment.",
"journal": "Rheumatology international",
"date": "2017",
"authors": "Cuppen BV, Pardali K, Kraan MC, Marijnissen AC, Yrlid L, Olsson M, Bijlsma JW, Lafeber FP, Fritsch-Stork RD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "28132103",
"url": "https://glygen.org/publication/PubMed/28132103"
}
]
},
{
"title": "Clathrin assembly proteins: affinity purification and a model for coat assembly.",
"journal": "The Journal of cell biology",
"date": "1987",
"authors": "Keen JH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "2890644",
"url": "https://glygen.org/publication/PubMed/2890644"
}
]
},
{
"title": "A retrovirus carrying an MDR1 cDNA confers multidrug resistance and polarized expression of P-glycoprotein in MDCK cells.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1988",
"authors": "Pastan I, Gottesman MM, Ueda K, Lovelace E, Rutherford AV, Willingham MC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "2898143",
"url": "https://glygen.org/publication/PubMed/2898143"
}
]
},
{
"title": "Correcting CFTR folding defects by small-molecule correctors to cure cystic fibrosis.",
"journal": "Current opinion in pharmacology",
"date": "2017",
"authors": "Mijnders M, Kleizen B, Braakman I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "29055231",
"url": "https://glygen.org/publication/PubMed/29055231"
}
]
},
{
"title": "The coming of age of chaperone-mediated autophagy.",
"journal": "Nature reviews. Molecular cell biology",
"date": "2018",
"authors": "Kaushik S, Cuervo AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "29626215",
"url": "https://glygen.org/publication/PubMed/29626215"
}
]
},
{
"title": "A Thermodynamic Model for Multivalency in 14-3-3 Protein-Protein Interactions.",
"journal": "Journal of the American Chemical Society",
"date": "2018",
"authors": "Stevers LM, de Vink PJ, Ottmann C, Huskens J, Brunsveld L",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "30296824",
"url": "https://glygen.org/publication/PubMed/30296824"
}
]
},
{
"title": "VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.",
"journal": "The New England journal of medicine",
"date": "2018",
"authors": "Keating D, Marigowda G, Burr L, Daines C, Mall MA, McKone EF, Ramsey BW, Rowe SM, Sass LA, Tullis E, McKee CM, Moskowitz SM, Robertson S, Savage J, Simard C, Van Goor F, Waltz D, Xuan F, Young T, Taylor-Cousar JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "30334692",
"url": "https://glygen.org/publication/PubMed/30334692"
}
]
},
{
"title": "VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.",
"journal": "The New England journal of medicine",
"date": "2018",
"authors": "Davies JC, Moskowitz SM, Brown C, Horsley A, Mall MA, McKone EF, Plant BJ, Prais D, Ramsey BW, Taylor-Cousar JL, Tullis E, Uluer A, McKee CM, Robertson S, Shilling RA, Simard C, Van Goor F, Waltz D, Xuan F, Young T, Rowe SM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "30334693",
"url": "https://glygen.org/publication/PubMed/30334693"
}
]
},
{
"title": "Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.",
"journal": "Lancet (London, England)",
"date": "2019",
"authors": "Heijerman HGM, McKone EF, Downey DG, Van Braeckel E, Rowe SM, Tullis E, Mall MA, Welter JJ, Ramsey BW, McKee CM, Marigowda G, Moskowitz SM, Waltz D, Sosnay PR, Simard C, Ahluwalia N, Xuan F, Zhang Y, Taylor-Cousar JL, McCoy KS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5678895",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895"
}
],
"reference": [
{
"type": "PubMed",
"id": "31679946",
"url": "https://glygen.org/publication/PubMed/31679946"
}
]
},
{
"title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.",
"journal": "Nature cell biology",
"date": "2020",
"authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "31871319",
"url": "https://glygen.org/publication/PubMed/31871319"
}
]
},
{
"title": "Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.",
"journal": "Annals of Saudi medicine",
"date": "2020",
"authors": "Banjar Hanaa Hasan, Tuleimat Lin, El Seoudi Abdul Aziz Agha, Mogarri Ibrahim, Alhaider Sami, Nizami Imran Yaqoob, AlMaghamsi Talal, Alkaf Sara Andulrahman, Moghrabi Nabil",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "32026723",
"url": "https://glygen.org/publication/PubMed/32026723"
}
]
},
{
"title": "Is the emperor wearing shorts? The published structures of ABC transporters.",
"journal": "FEBS letters",
"date": "2020",
"authors": "Jones PM, George AM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "32981041",
"url": "https://glygen.org/publication/PubMed/32981041"
}
]
},
{
"title": "Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.",
"journal": "Genes",
"date": "2021-01-31",
"authors": "Bozdogan Sevcan Tug, Mujde Cem, Boga Ibrahim, Sonmezler Ozge, Hanta Abdullah, Rencuzogullari Cagla, Ozcan Dilek, Altintas Derya Ufuk, Bisgin Atil",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "33572515",
"url": "https://glygen.org/publication/PubMed/33572515"
}
]
},
{
"title": "Deep-etch visualization of proteins involved in clathrin assembly.",
"journal": "The Journal of cell biology",
"date": "1988",
"authors": "Heuser JE, Keen J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "3417785",
"url": "https://glygen.org/publication/PubMed/3417785"
}
]
},
{
"title": "Human multidrug-resistant cell lines: increased mdr1 expression can precede gene amplification.",
"journal": "Science (New York, N.Y.)",
"date": "1986",
"authors": "Shen DW, Fojo A, Chin JE, Roninson IB, Richert N, Pastan I, Gottesman MM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "3457471",
"url": "https://glygen.org/publication/PubMed/3457471"
}
]
},
{
"title": "Expression of a full-length cDNA for the human `MDR1` gene confers resistance to colchicine, doxorubicin, and vinblastine.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1987",
"authors": "Ueda K, Cardarelli C, Gottesman MM, Pastan I",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "3472246",
"url": "https://glygen.org/publication/PubMed/3472246"
}
]
},
{
"title": "A PI3Kgamma mimetic peptide triggers CFTR gating, bronchodilation, and reduced inflammation in obstructive airway diseases.",
"journal": "Science translational medicine",
"date": "2022",
"authors": "Ghigo A, Murabito A, Sala V, Pisano AR, Bertolini S, Gianotti A, Caci E, Montresor A, Premchandar A, Pirozzi F, Ren K, Della Sala A, Mergiotti M, Richter W, de Poel E, Matthey M, Caldrer S, Cardone RA, Civiletti F, Costamagna A, Quinney NL, Butnarasu C, Visentin S, Ruggiero MR, Baroni S, Crich SG, Ramel D, Laffargue M, Tocchetti CG, Levi R, Conti M, Lu XY, Melotti P, Sorio C, De Rose V, Facchinetti F, Fanelli V, Wenzel D, Fleischmann BK, Mall MA, Beekman J, Laudanna C, Gentzsch M, Lukacs GL, Pedemonte N, Hirsch E",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "35353541",
"url": "https://glygen.org/publication/PubMed/35353541"
}
]
},
{
"title": "Antenatal Screening for CFTR Variants-Reply.",
"journal": "JAMA",
"date": "2023-10-10",
"authors": "Ong Thida, Ramsey Bonnie W",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
}
],
"reference": [
{
"type": "PubMed",
"id": "37815569",
"url": "https://glygen.org/publication/PubMed/37815569"
}
]
},
{
"title": "Cystic Fibrosis.",
"journal": "The New England journal of medicine",
"date": "2023-11-02",
"authors": "Grasemann Hartmut, Ratjen Felix",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
}
],
"reference": [
{
"type": "PubMed",
"id": "37913507",
"url": "https://glygen.org/publication/PubMed/37913507"
}
]
},
{
"title": "A Novel Co-Culture Model Reveals Enhanced CFTR Rescue in Primary Cystic Fibrosis Airway Epithelial Cultures with Persistent Pseudomonas aeruginosa Infection.",
"journal": "Cells",
"date": "2023-11-13",
"authors": "Cholon Deborah M, Greenwald Matthew A, Higgs Matthew G, Quinney Nancy L, Boyles Susan E, Meinig Suzanne L, Minges John T, Chaubal Ashlesha, Tarran Robert, Ribeiro Carla M P, Wolfgang Matthew C, Gentzsch Martina",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
}
],
"reference": [
{
"type": "PubMed",
"id": "37998353",
"url": "https://glygen.org/publication/PubMed/37998353"
}
]
},
{
"title": "Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.",
"journal": "International journal of molecular sciences",
"date": "2023-11-14",
"authors": "Chernykh Vyacheslav, Krasovsky Stanislav, Solovova Olga, Adyan Tagui, Stepanova Anna, Marnat Ekaterina, Shtaut Maria, Sedova Anna, Sorokina Tatyana, Beskorovainaya Tatyana, Kondratyeva Elena, Shchagina Olga, Polyakov Aleksandr",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000483",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000483"
}
],
"reference": [
{
"type": "PubMed",
"id": "38003474",
"url": "https://glygen.org/publication/PubMed/38003474"
}
]
},
{
"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": "Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.",
"journal": "Human mutation",
"date": "1993",
"authors": "Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti P F, Cabrini G",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7504969",
"url": "https://glygen.org/publication/PubMed/7504969"
}
]
},
{
"title": "Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.",
"journal": "Human molecular genetics",
"date": "1993",
"authors": "Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7505694",
"url": "https://glygen.org/publication/PubMed/7505694"
}
]
},
{
"title": "Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.",
"journal": "Human genetics",
"date": "1994-01",
"authors": "D\u00f6rk T, Fislage R, Neumann T, Wulf B, T\u00fcmmler B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7505767",
"url": "https://glygen.org/publication/PubMed/7505767"
}
]
},
{
"title": "Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.",
"journal": "Genomics",
"date": "1993-12",
"authors": "Cuppens H, Marynen P, De Boeck C, Cassiman J J",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7508414",
"url": "https://glygen.org/publication/PubMed/7508414"
}
]
},
{
"title": "Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.",
"journal": "Human genetics",
"date": "1994",
"authors": "Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7513296",
"url": "https://glygen.org/publication/PubMed/7513296"
}
]
},
{
"title": "Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).",
"journal": "Human mutation",
"date": "1994",
"authors": "Chillon M, Casals T, Gimenez J, Nunes V, Estivill X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7517264",
"url": "https://glygen.org/publication/PubMed/7517264"
}
]
},
{
"title": "Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion.",
"journal": "The Journal of biological chemistry",
"date": "1994",
"authors": "Chang XB, Hou YX, Jensen TJ, Riordan JR",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569#ptm_processing"
},
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7518437",
"url": "https://glygen.org/publication/PubMed/7518437"
}
]
},
{
"title": "A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.",
"journal": "Human heredity",
"date": "1994",
"authors": "Greil I, Wagner K, Rosenkranz W",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7520022",
"url": "https://glygen.org/publication/PubMed/7520022"
}
]
},
{
"title": "Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.",
"journal": "Genomics",
"date": "1994",
"authors": "Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7522211",
"url": "https://glygen.org/publication/PubMed/7522211"
}
]
},
{
"title": "Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.",
"journal": "The Journal of biological chemistry",
"date": "1994",
"authors": "Ward CL, Kopito RR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "7523390",
"url": "https://glygen.org/publication/PubMed/7523390"
}
]
},
{
"title": "A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.",
"journal": "Human molecular genetics",
"date": "1994",
"authors": "Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7524909",
"url": "https://glygen.org/publication/PubMed/7524909"
}
]
},
{
"title": "Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.",
"journal": "Human molecular genetics",
"date": "1994",
"authors": "Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7524913",
"url": "https://glygen.org/publication/PubMed/7524913"
}
]
},
{
"title": "Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.",
"journal": "Human genetics",
"date": "1994",
"authors": "Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7525450",
"url": "https://glygen.org/publication/PubMed/7525450"
}
]
},
{
"title": "Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP.",
"journal": "The EMBO journal",
"date": "1994",
"authors": "Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "7529176",
"url": "https://glygen.org/publication/PubMed/7529176"
}
]
},
{
"title": "Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.",
"journal": "American journal of human genetics",
"date": "1995",
"authors": "Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7529962",
"url": "https://glygen.org/publication/PubMed/7529962"
}
]
},
{
"title": "cAMP-dependent protein kinase-mediated phosphorylation of cystic fibrosis transmembrane conductance regulator residue Ser-753 and its role in channel activation.",
"journal": "The Journal of biological chemistry",
"date": "1995",
"authors": "Seibert FS, Tabcharani JA, Chang XB, Dulhanty AM, Mathews C, Hanrahan JW, Riordan JR",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7530719",
"url": "https://glygen.org/publication/PubMed/7530719"
}
]
},
{
"title": "Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.",
"journal": "Human mutation",
"date": "1995",
"authors": "Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7537150",
"url": "https://glygen.org/publication/PubMed/7537150"
}
]
},
{
"title": "Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.",
"journal": "Clinical chemistry",
"date": "1995-06",
"authors": "J\u00e9z\u00e9quel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall J Y, Le Lannou D, Blayau M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7539342",
"url": "https://glygen.org/publication/PubMed/7539342"
}
]
},
{
"title": "Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.",
"journal": "Human mutation",
"date": "1995",
"authors": "Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Ferec C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7541273",
"url": "https://glygen.org/publication/PubMed/7541273"
}
]
},
{
"title": "Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.",
"journal": "Molecular and cellular probes",
"date": "1995",
"authors": "Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7541510",
"url": "https://glygen.org/publication/PubMed/7541510"
}
]
},
{
"title": "A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.",
"journal": "The Journal of pediatrics",
"date": "1995",
"authors": "Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli MC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7543567",
"url": "https://glygen.org/publication/PubMed/7543567"
}
]
},
{
"title": "Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.",
"journal": "Human genetics",
"date": "1995",
"authors": "Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7544319",
"url": "https://glygen.org/publication/PubMed/7544319"
}
]
},
{
"title": "Degradation of CFTR by the ubiquitin-proteasome pathway.",
"journal": "Cell",
"date": "1995",
"authors": "Ward CL, Omura S, Kopito RR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "7553863",
"url": "https://glygen.org/publication/PubMed/7553863"
}
]
},
{
"title": "Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.",
"journal": "Cell",
"date": "1995",
"authors": "Jensen TJ, Loo MA, Pind S, Williams DB, Goldberg AL, Riordan JR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "7553864",
"url": "https://glygen.org/publication/PubMed/7553864"
}
]
},
{
"title": "Interaction of tyrosine-based sorting signals with clathrin-associated proteins.",
"journal": "Science (New York, N.Y.)",
"date": "1995",
"authors": "Ohno H, Stewart J, Fournier MC, Bosshart H, Rhee I, Miyatake S, Saito T, Gallusser A, Kirchhausen T, Bonifacino JS",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "7569928",
"url": "https://glygen.org/publication/PubMed/7569928"
}
]
},
{
"title": "Metabolism of the polyubiquitin degradation signal: structure, mechanism, and role of isopeptidase T.",
"journal": "Biochemistry",
"date": "1995",
"authors": "Wilkinson KD, Tashayev VL, O'Connor LB, Larsen CN, Kasperek E, Pickart CM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-5689880",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880"
}
],
"reference": [
{
"type": "PubMed",
"id": "7578059",
"url": "https://glygen.org/publication/PubMed/7578059"
}
]
},
{
"title": "Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.",
"journal": "Human mutation",
"date": "1995",
"authors": "Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7581407",
"url": "https://glygen.org/publication/PubMed/7581407"
}
]
},
{
"title": "Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.",
"journal": "Clinical genetics",
"date": "1995",
"authors": "Orozco L, Lezana JL, Villarreal MT, Chavez M, Carnevale A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7606851",
"url": "https://glygen.org/publication/PubMed/7606851"
}
]
},
{
"title": "Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.",
"journal": "American journal of human genetics",
"date": "1993",
"authors": "Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7680525",
"url": "https://glygen.org/publication/PubMed/7680525"
}
]
},
{
"title": "Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.",
"journal": "Genomics",
"date": "1993",
"authors": "Mercier B, Lissens W, Novelli G, Kalaydjieva L, De Arce M, Kapranov N, Klain NC, Lenoir G, Chauveau P, Lenaerts C, et al.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7683628",
"url": "https://glygen.org/publication/PubMed/7683628"
}
]
},
{
"title": "A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.",
"journal": "Human molecular genetics",
"date": "1993",
"authors": "Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7683954",
"url": "https://glygen.org/publication/PubMed/7683954"
}
]
},
{
"title": "Regulation of the cystic fibrosis transmembrane conductance regulator Cl- channel by negative charge in the R domain.",
"journal": "The Journal of biological chemistry",
"date": "1993-09-25",
"authors": "Rich D P, Berger H A, Cheng S H, Travis S M, Saxena M, Smith A E, Welsh M J",
"evidence": [
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "7690753",
"url": "https://glygen.org/publication/PubMed/7690753"
}
]
},
{
"title": "Direct involvement of the small GTP-binding protein Rho in lbc oncogene function.",
"journal": "The Journal of biological chemistry",
"date": "1995",
"authors": "Zheng Y, Olson MF, Hall A, Cerione RA, Toksoz D",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "7721814",
"url": "https://glygen.org/publication/PubMed/7721814"
}
]
},
{
"title": "Arrestin interactions with G protein-coupled receptors. Direct binding studies of wild type and mutant arrestins with rhodopsin, beta 2-adrenergic, and m2 muscarinic cholinergic receptors.",
"journal": "The Journal of biological chemistry",
"date": "1995",
"authors": "Gurevich VV, Dion SB, Onorato JJ, Ptasienski J, Kim CM, Sterne-Marr R, Hosey MM, Benovic JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "7822302",
"url": "https://glygen.org/publication/PubMed/7822302"
}
]
},
{
"title": "P-glycoprotein mediates profound resistance to bisantrene.",
"journal": "Oncology research",
"date": "1994",
"authors": "Zhang XP, Ritke MK, Yalowich JC, Slovak ML, Ho JP, Collins KI, Annable T, Arceci RJ, Durr FE, Greenberger LM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "7865904",
"url": "https://glygen.org/publication/PubMed/7865904"
}
]
},
{
"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": "A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.",
"journal": "Human mutation",
"date": "1994",
"authors": "Bienvenu T, Petitpretz P, Beldjord C, Kaplan JC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8081395",
"url": "https://glygen.org/publication/PubMed/8081395"
}
]
},
{
"title": "Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.",
"journal": "Human heredity",
"date": "1993",
"authors": "Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8406518",
"url": "https://glygen.org/publication/PubMed/8406518"
}
]
},
{
"title": "Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.",
"journal": "Human genetics",
"date": "1995",
"authors": "Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8522333",
"url": "https://glygen.org/publication/PubMed/8522333"
}
]
},
{
"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-8856828",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828"
}
],
"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": "Role of beta-arrestin in mediating agonist-promoted G protein-coupled receptor internalization.",
"journal": "Science (New York, N.Y.)",
"date": "1996",
"authors": "Ferguson SS, Downey WE 3rd, Colapietro AM, Barak LS, Menard L, Caron MG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "8553074",
"url": "https://glygen.org/publication/PubMed/8553074"
}
]
},
{
"title": "A receptor for the selective uptake and degradation of proteins by lysosomes.",
"journal": "Science (New York, N.Y.)",
"date": "1996",
"authors": "Cuervo AM, Dice JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "8662539",
"url": "https://glygen.org/publication/PubMed/8662539"
}
]
},
{
"title": "A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.",
"journal": "Human mutation",
"date": "1996",
"authors": "Petreska L, Plaseska D, Koceva S, Stavljenic-Rukavina A, Efremov GD",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8723693",
"url": "https://glygen.org/publication/PubMed/8723693"
}
]
},
{
"title": "Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.",
"journal": "Human mutation",
"date": "1996",
"authors": "Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, Kaplan JC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8723695",
"url": "https://glygen.org/publication/PubMed/8723695"
}
]
},
{
"title": "Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.",
"journal": "European journal of human genetics : EJHG",
"date": "1996",
"authors": "Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8800923",
"url": "https://glygen.org/publication/PubMed/8800923"
}
]
},
{
"title": "Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.",
"journal": "Human mutation",
"date": "1996",
"authors": "Nasr SZ, Strong TV, Mansoura MK, Dawson DC, Collins FS",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8829633",
"url": "https://glygen.org/publication/PubMed/8829633"
}
]
},
{
"title": "Beta-arrestin acts as a clathrin adaptor in endocytosis of the beta2-adrenergic receptor.",
"journal": "Nature",
"date": "1996",
"authors": "Goodman OB Jr, Krupnick JG, Santini F, Gurevich VV, Penn RB, Gagnon AW, Keen JH, Benovic JL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "8837779",
"url": "https://glygen.org/publication/PubMed/8837779"
}
]
},
{
"title": "ATPase activity of the cystic fibrosis transmembrane conductance regulator.",
"journal": "The Journal of biological chemistry",
"date": "1996",
"authors": "Li C, Ramjeesingh M, Wang W, Garami E, Hewryk M, Lee D, Rommens JM, Galley K, Bear CE",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8910473",
"url": "https://glygen.org/publication/PubMed/8910473"
}
]
},
{
"title": "Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.",
"journal": "Human mutation",
"date": "1996",
"authors": "Hughes DJ, Hill AJ, Macek M Jr, Redmond AO, Nevin NC, Graham CA",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "8956039",
"url": "https://glygen.org/publication/PubMed/8956039"
}
]
},
{
"title": "A population of rat liver lysosomes responsible for the selective uptake and degradation of cytosolic proteins.",
"journal": "The Journal of biological chemistry",
"date": "1997",
"authors": "Cuervo AM, Dice JF, Knecht E",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "9038169",
"url": "https://glygen.org/publication/PubMed/9038169"
}
]
},
{
"title": "Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).",
"journal": "Human mutation",
"date": "1997",
"authors": "Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9067761",
"url": "https://glygen.org/publication/PubMed/9067761"
}
]
},
{
"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": "Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.",
"journal": "Human mutation",
"date": "1997",
"authors": "Clavel C, Pennaforte F, Pigeon F, Verlingue C, Birembaut P, Ferec C",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9101301",
"url": "https://glygen.org/publication/PubMed/9101301"
}
]
},
{
"title": "An intralysosomal hsp70 is required for a selective pathway of lysosomal protein degradation.",
"journal": "The Journal of cell biology",
"date": "1997",
"authors": "Agarraberes FA, Terlecky SR, Dice JF",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9613829",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829"
}
],
"reference": [
{
"type": "PubMed",
"id": "9151685",
"url": "https://glygen.org/publication/PubMed/9151685"
}
]
},
{
"title": "Arrestin/clathrin interaction. Localization of the arrestin binding locus to the clathrin terminal domain.",
"journal": "The Journal of biological chemistry",
"date": "1997",
"authors": "Goodman OB Jr, Krupnick JG, Gurevich VV, Benovic JL, Keen JH",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "9169477",
"url": "https://glygen.org/publication/PubMed/9169477"
}
]
},
{
"title": "Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.",
"journal": "Human mutation",
"date": "1997",
"authors": "Gouya L, Pascaud O, Munck A, Elion J, Denamur E",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9222768",
"url": "https://glygen.org/publication/PubMed/9222768"
}
]
},
{
"title": "Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module.",
"journal": "Genes & development",
"date": "1997",
"authors": "Salcini AE, Confalonieri S, Doria M, Santolini E, Tassi E, Minenkova O, Cesareni G, Pelicci PG, Di Fiore PP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "9303539",
"url": "https://glygen.org/publication/PubMed/9303539"
}
]
},
{
"title": "Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.",
"journal": "Human mutation",
"date": "1997",
"authors": "Casals T, Pacheco P, Barreto C, Gimenez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vazquez C, Rocha H, Seculi JL, Perez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9375855",
"url": "https://glygen.org/publication/PubMed/9375855"
}
]
},
{
"title": "Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry.",
"journal": "Protein science : a publication of the Protein Society",
"date": "1997",
"authors": "Neville DC, Rozanas CR, Price EM, Gruis DB, Verkman AS, Townsend RR",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "iPTMnet",
"id": "P13569",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
}
]
},
{
"title": "Cystic fibrosis mutation frequencies in upstate New York.",
"journal": "Human mutation",
"date": "1997",
"authors": "Shrimpton AE, Borowitz D, Swender P",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9401006",
"url": "https://glygen.org/publication/PubMed/9401006"
}
]
},
{
"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": "Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.",
"journal": "American journal of human genetics",
"date": "1998",
"authors": "Friedman KJ, Leigh MW, Czarnecki P, Feldman GL",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9443874",
"url": "https://glygen.org/publication/PubMed/9443874"
}
]
},
{
"title": "Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.",
"journal": "Human mutation",
"date": "1998",
"authors": "Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9452048",
"url": "https://glygen.org/publication/PubMed/9452048"
}
]
},
{
"title": "Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.",
"journal": "Human mutation",
"date": "1998",
"authors": "Casals T, Ramos MD, Gimenez J, Nadal M, Nunes V, Estivill X",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9452054",
"url": "https://glygen.org/publication/PubMed/9452054"
}
]
},
{
"title": "A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.",
"journal": "Human mutation",
"date": "1998",
"authors": "Shackleton S, Harris A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9452073",
"url": "https://glygen.org/publication/PubMed/9452073"
}
]
},
{
"title": "Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).",
"journal": "Human mutation",
"date": "1998",
"authors": "Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9482579",
"url": "https://glygen.org/publication/PubMed/9482579"
}
]
},
{
"title": "P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.",
"journal": "Journal of medical genetics",
"date": "1998-02",
"authors": "Gilfillan A, Warner J P, Kirk J M, Marshall T, Greening A, Ho L P, Hargreave T, Stack B, McIntyre D, Davidson R, Dean J C, Middleton W, Brock D J",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9507391",
"url": "https://glygen.org/publication/PubMed/9507391"
}
]
},
{
"title": "A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase.",
"journal": "Proteins",
"date": "1998",
"authors": "Hoedemaeker F J, Davidson A R, Rose D R",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9517543",
"url": "https://glygen.org/publication/PubMed/9517543"
}
]
},
{
"title": "Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).",
"journal": "Human genetics",
"date": "1998",
"authors": "Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9521595",
"url": "https://glygen.org/publication/PubMed/9521595"
}
]
},
{
"title": "Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.",
"journal": "Human mutation",
"date": "1998",
"authors": "Leoni GB, Pitzalis S, Tonelli R, Cao A",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9554753",
"url": "https://glygen.org/publication/PubMed/9554753"
}
]
},
{
"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": "Stoichiometry of coupling of rhodamine 123 transport to ATP hydrolysis by P-glycoprotein.",
"journal": "European journal of biochemistry",
"date": "1998",
"authors": "Shapiro AB, Ling V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "9652413",
"url": "https://glygen.org/publication/PubMed/9652413"
}
]
},
{
"title": "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis.",
"journal": "Nature",
"date": "1998",
"authors": "Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "9723620",
"url": "https://glygen.org/publication/PubMed/9723620"
}
]
},
{
"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": "Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.",
"journal": "Human molecular genetics",
"date": "1998",
"authors": "Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9736778",
"url": "https://glygen.org/publication/PubMed/9736778"
}
]
},
{
"title": "Characterization of mutations located in exon 18 of the CFTR gene.",
"journal": "FEBS letters",
"date": "1998",
"authors": "Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman JJ, Nilius B, Cuppens H",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9804160",
"url": "https://glygen.org/publication/PubMed/9804160"
}
]
},
{
"title": "A structural explanation for the recognition of tyrosine-based endocytotic signals.",
"journal": "Science (New York, N.Y.)",
"date": "1998",
"authors": "Owen DJ, Evans PR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8856825",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825"
}
],
"reference": [
{
"type": "PubMed",
"id": "9812899",
"url": "https://glygen.org/publication/PubMed/9812899"
}
]
},
{
"title": "Retroviral transfer of the human MDR1 gene confers resistance to bisantrene-specific hematotoxicity.",
"journal": "Clinical cancer research : an official journal of the American Association for Cancer Research",
"date": "1996",
"authors": "Aksentijevich I, Cardarelli CO, Pastan I, Gottesman MM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "9816258",
"url": "https://glygen.org/publication/PubMed/9816258"
}
]
},
{
"title": "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.",
"journal": "Circulation research",
"date": "1998",
"authors": "Babenko AP, Gonzalez G, Aguilar-Bryan L, Bryan J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "9831708",
"url": "https://glygen.org/publication/PubMed/9831708"
}
]
},
{
"title": "Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPases.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Ren Y, Li R, Zheng Y, Busch H",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9013406",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406"
}
],
"reference": [
{
"type": "PubMed",
"id": "9857026",
"url": "https://glygen.org/publication/PubMed/9857026"
}
]
},
{
"title": "Aggresomes: a cellular response to misfolded proteins.",
"journal": "The Journal of cell biology",
"date": "1998",
"authors": "Johnston JA, Ward CL, Kopito RR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-9646399",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399"
}
],
"reference": [
{
"type": "PubMed",
"id": "9864362",
"url": "https://glygen.org/publication/PubMed/9864362"
}
]
},
{
"title": "Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.",
"journal": "Human genetics",
"date": "1998",
"authors": "Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"reference": [
{
"type": "PubMed",
"id": "9921909",
"url": "https://glygen.org/publication/PubMed/9921909"
}
]
}
],
"pathway": [
{
"id": "hsa:1080",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1080",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-382556",
"name": "ABC-family proteins mediated transport",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556",
"resource": "Reactome",
"description": "ABC-family proteins mediated transport"
},
{
"id": "R-HSA-5627083",
"name": "RHO GTPases regulate CFTR trafficking",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627083",
"resource": "Reactome",
"description": "RHO GTPases regulate CFTR trafficking"
},
{
"id": "R-HSA-5678895",
"name": "Defective CFTR causes cystic fibrosis",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678895",
"resource": "Reactome",
"description": "Defective CFTR causes cystic fibrosis"
},
{
"id": "R-HSA-5689880",
"name": "Ub-specific processing proteases",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880",
"resource": "Reactome",
"description": "Ub-specific processing proteases"
},
{
"id": "R-HSA-8856825",
"name": "Cargo recognition for clathrin-mediated endocytosis",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825",
"resource": "Reactome",
"description": "Cargo recognition for clathrin-mediated endocytosis"
},
{
"id": "R-HSA-8856828",
"name": "Clathrin-mediated endocytosis",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828",
"resource": "Reactome",
"description": "Clathrin-mediated endocytosis"
},
{
"id": "R-HSA-9013406",
"name": "RHOQ GTPase cycle",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406",
"resource": "Reactome",
"description": "RHOQ GTPase cycle"
},
{
"id": "R-HSA-9613829",
"name": "Chaperone Mediated Autophagy",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613829",
"resource": "Reactome",
"description": "Chaperone Mediated Autophagy"
},
{
"id": "R-HSA-9615710",
"name": "Late endosomal microautophagy",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615710",
"resource": "Reactome",
"description": "Late endosomal microautophagy"
},
{
"id": "R-HSA-9646399",
"name": "Aggrephagy",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399",
"resource": "Reactome",
"description": "Aggrephagy"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "P26361-1",
"protein_name": "Cystic fibrosis transmembrane conductance regulator",
"gene_name": "Cftr",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MQKSPLEKASFISKLFFSWTTPILRKGYRHHLELSDIYQAPSADSADHLSEKLEREWDREQASKKNPQLIHALRRCFFWRFLFYGILLYLGEVTKAVQPVLLGRIIASYDPENKVERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHRIGMQMRTAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFIWIAPLQVTLLMGLLWDLLQFSAFCGLGLLIILVIFQAILGKMMVKYRDQRAAKINERLVITSEIIDNIYSVKAYCWESAMEKMIENLREVELKMTRKAAYMRFFTSSAFFFSGFFVVFLSVLPYTVINGIVLRKIFTTISFCIVLRMSVTRQFPTAVQIWYDSFGMIRKIQDFLQKQEYKVLEYNLMTTGIIMENVTAFWEEGFGELLEKVQQSNGDRKHSSDENNVSFSHLCLVGNPVLKNINLNIEKGEMLAITGSTGSGKTSLLMLILGELEASEGIIKHSGRVSFCSQFSWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQQDITKFAEQDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVFTEEQVFESCVCKLMANKTRILVTSKMEHLRKADKILILHQGSSYFYGTFSELQSLRPDFSSKLMGYDTFDQFTEERRSSILTETLRRFSVDDSSAPWSKPKQSFRQTGEVGEKRKNSILNSFSSVRKISIVQKTPLCIDGESDDLQEKRLSLVPDSEQGEAALPRSNMIATGPTFPGRRRQSVLDLMTFTPNSGSSNLQRTRTSIRKISLVPQISLNEVDVYSRRLSQDSTLNITEEINEEDLKECFLDDVIKIPPVTTWNTYLRYFTLHKGLLLVLIWCVLVFLVEVAASLFVLWLLKNNPVNSGNNGTKISNSSYVVIITSTSFYYIFYIYVGVADTLLALSLFRGLPLVHTLITASKILHRKMLHSILHAPMSTISKLKAGGILNRFSKDIAILDDFLPLTIFDFIQLVFIVIGAIIVVSALQPYIFLATVPGLVVFILLRAYFLHTAQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLHTANWFMYLATLRWFQMRIDMIFVLFFIVVTFISILTTGEGEGTAGIILTLAMNIMSTLQWAVNSSIDTDSLMRSVSRVFKFIDIQTEESMYTQIIKELPREGSSDVLVIKNEHVKKSDIWPSGGEMVVKDLTVKYMDDGNAVLENISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGDIEIDGVSWNSVTLQEWRKAFGVITQKVFIFSGTFRQNLDPNGKWKDEEIWKVADEVGLKSVIEQFPGQLNFTLVDGGYVLSHGHKQLMCLARSVLSKAKIILLDEPSAHLDPITYQVIRRVLKQAFAGCTVILCEHRIEAMLDCQRFLVIEESNVWQYDSLQALLSEKSIFQQAISSSEKMRFFQGRHSSKHKPRTQITALKEETEEEVQETRL",
"length": 1476
},
"evidence": [
{
"id": "45923303",
"url": "http://www.informatics.jax.org/homology/45923303",
"database": "MGI"
},
{
"id": "P13569",
"url": "https://omabrowser.org/oma/group/P13569/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "P34158-1",
"protein_name": "Cystic fibrosis transmembrane conductance regulator",
"gene_name": "Cftr",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MQKSPLEKASFISKLFFSWTTPILRKGYRHHLELSDIYQAPSSDSADHLSEKLEREWDREQASKKKPQLIHALRRCFVWRFVFYGVLLYLGEVTKAVQPVLLGRIIASYDPDNTEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLISLLSNNLNKFDEGLALAHFIWIAPLQVVLLMGLLWDLLQFSAFCGLGLLIVLVIFQAILGKMMVKYRDKRAAKINERLVITSEVIDNIYSVKAYCWESAMEKIIESLREEELKMTRRSAYMRFFTSSAFFFSGFFVVFLSVLPYTVINGIVLRKIFTTISFCIVLRMSVTRQFPTAVQIWYDSLGMIRKIQDFLQTQEYKVLEYNLMFTGLVMENVTAFWEEGFQELLEKVQLNNDDRKTSNGENHLSFSHLCLVGNPVLKNINLNIKKGEMLAITGSTGAGKTSLLMLILGELEASEGIIKHSGRVSFSSQISWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQEDITKFAEQDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEEQIFESCVCKLMASKTRILVTSKMEQLKKADKILILHEGSSYFYGTFSELQSLRPDFSSKLMGYDTFDQFTEERRSSILTETLRRFSVDDASTTWNKAKQSFRQTGEFGEKRKNSILSSFSSVKKISIVQKTPLSIEGESDDLQERRLSLVPDSEHGEAALPRSNMITAGPTFPGRRRQSVLDLMTFTPSSVSSSLQRTRASIRKISLAPRISLKEEDIYSRRLSQDSTLNITEEINEEDLKECFFDDMVKIPTVTTWNTYLRYFTLHRGLFAVLIWCVLVFLVEVAASLFVLWLLKNNPVNGGNNGTKIANTSYVVVITSSSFYYIFYIYVGVADTLLALSLFRGLPLVHTLITASKILHRKMLHSILHAPMSTFNKLKAGGILNRFSKDIAILDDFLPLTIFDFIQLLFIVVGAIIVVSALQPYIFLATVPGLAVFILLRAYFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLHTANWFMYLATLRWFQMRIDMIFVLFFIVVTFISILTTGEGEGTTGIILTLAMNIMSTLQWAVNSSIDTDSLMRSVSRVFKFIDIQTEESICTKIMKELHSEDSPNALVIKNEHVKKCDTWPSGGEMVVKDLTVKYVDDGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGEIQIDGVSWNSMTLQEWRKAFGVITQKVFIFSGTFRQNLDPNGKWRDEEIWKVADQVGLKSVIEQFPGQLNFTLVDGGYVLSHGHKQLMCLARSVLSKAKIILLDEPSANLDPITYQVIRRVLRQAFAGCTVVLCEHRIEAMLDCQRFLVIEQGNVWQYESLQALLSEKSVFQRALSSSEKMKLFHGRHSSKQKPRTQITAVKEETEEEVQETRL",
"length": 1476
},
"evidence": [
{
"id": "45923303",
"url": "http://www.informatics.jax.org/homology/45923303",
"database": "MGI"
}
],
"common_name": "Rat"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 16,
"go_terms": [
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride channel activity",
"id": "GO:0005254",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "ABC-type transporter activity",
"id": "GO:0140359",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "intracellularly ATP-gated chloride channel activity",
"id": "GO:0005260",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005260",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "isomerase activity",
"id": "GO:0016853",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016853",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride channel inhibitor activity",
"id": "GO:0019869",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019869",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "enzyme binding",
"id": "GO:0019899",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "ATPase-coupled transmembrane transporter activity",
"id": "GO:0042626",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "protein-folding chaperone binding",
"id": "GO:0051087",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride channel regulator activity",
"id": "GO:0017081",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017081",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "ATPase-coupled inorganic anion transmembrane transporter activity",
"id": "GO:0043225",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043225",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "PDZ domain binding",
"id": "GO:0030165",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "bicarbonate transmembrane transporter activity",
"id": "GO:0015106",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride transmembrane transporter activity",
"id": "GO:0015108",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "Sec61 translocon complex binding",
"id": "GO:0106138",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106138",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 18,
"go_terms": [
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum membrane",
"id": "GO:0005789",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "apical plasma membrane",
"id": "GO:0016324",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "early endosome membrane",
"id": "GO:0031901",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "recycling endosome membrane",
"id": "GO:0055038",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride channel complex",
"id": "GO:0034707",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "early endosome",
"id": "GO:0005769",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cell surface",
"id": "GO:0009986",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "recycling endosome",
"id": "GO:0055037",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "lysosomal membrane",
"id": "GO:0005765",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "clathrin-coated endocytic vesicle membrane",
"id": "GO:0030669",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "endosome membrane",
"id": "GO:0010008",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "protein-containing complex",
"id": "GO:0032991",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "Golgi-associated vesicle membrane",
"id": "GO:0030660",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030660",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 21,
"go_terms": [
{
"name": "positive regulation of cyclic nucleotide-gated ion channel activity",
"id": "GO:1902161",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902161",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "positive regulation of voltage-gated chloride channel activity",
"id": "GO:1902943",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902943",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "transmembrane transport",
"id": "GO:0055085",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cellular response to cAMP",
"id": "GO:0071320",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus",
"id": "GO:0035774",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cellular response to forskolin",
"id": "GO:1904322",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cholesterol biosynthetic process",
"id": "GO:0006695",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "sperm capacitation",
"id": "GO:0048240",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "chloride transmembrane transport",
"id": "GO:1902476",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "membrane hyperpolarization",
"id": "GO:0060081",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "cholesterol transport",
"id": "GO:0030301",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "response to endoplasmic reticulum stress",
"id": "GO:0034976",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "positive regulation of enamel mineralization",
"id": "GO:0070175",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070175",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "bicarbonate transport",
"id": "GO:0015701",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "transepithelial water transport",
"id": "GO:0035377",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035377",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "multicellular organismal-level water homeostasis",
"id": "GO:0050891",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "amelogenesis",
"id": "GO:0097186",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "establishment of localization in cell",
"id": "GO:0051649",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "positive regulation of exocytosis",
"id": "GO:0045921",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "vesicle docking involved in exocytosis",
"id": "GO:0006904",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
},
{
"name": "intracellular pH elevation",
"id": "GO:0051454",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051454",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 1148,
"end_pos": 1150,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1229,
"end_pos": 1231,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1454,
"end_pos": 1456,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 306,
"end_pos": 308,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 386,
"end_pos": 388,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 396,
"end_pos": 398,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 432,
"end_pos": 434,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 48,
"end_pos": 50,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 597,
"end_pos": 599,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 801,
"end_pos": 803,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 894,
"end_pos": 896,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 900,
"end_pos": 902,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "N-glycosylated.",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "20008117",
"url": "https://glygen.org/publication/PubMed/20008117"
},
{
"database": "PubMed",
"id": "1699669",
"url": "https://glygen.org/publication/PubMed/1699669"
},
{
"database": "PubMed",
"id": "28067262",
"url": "https://glygen.org/publication/PubMed/28067262"
},
{
"database": "PubMed",
"id": "21884936",
"url": "https://glygen.org/publication/PubMed/21884936"
},
{
"database": "PubMed",
"id": "12529365",
"url": "https://glygen.org/publication/PubMed/12529365"
}
]
},
{
"annotation": "Phosphorylated; cAMP treatment promotes phosphorylation and activates the channel (PubMed:12588899, PubMed:17036051, PubMed:8910473). Dephosphorylation decreases the ATPase activity (in vitro) (PubMed:8910473). Phosphorylation at PKA sites activates the channel (PubMed:10792060, PubMed:12519745, PubMed:12588899, PubMed:25330774). Phosphorylation at PKC sites enhances the response to phosphorylation by PKA (PubMed:12588899). Phosphorylated by AMPK; this inhibits channel activity (PubMed:12519745).",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "25330774",
"url": "https://glygen.org/publication/PubMed/25330774"
},
{
"database": "PubMed",
"id": "17036051",
"url": "https://glygen.org/publication/PubMed/17036051"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "12588899",
"url": "https://glygen.org/publication/PubMed/12588899"
},
{
"database": "PubMed",
"id": "9385646",
"url": "https://glygen.org/publication/PubMed/9385646"
},
{
"database": "PubMed",
"id": "10792060",
"url": "https://glygen.org/publication/PubMed/10792060"
},
{
"database": "PubMed",
"id": "8910473",
"url": "https://glygen.org/publication/PubMed/8910473"
},
{
"database": "PubMed",
"id": "12519745",
"url": "https://glygen.org/publication/PubMed/12519745"
},
{
"database": "PubMed",
"id": "1377674",
"url": "https://glygen.org/publication/PubMed/1377674"
}
]
},
{
"annotation": "Ubiquitinated, leading to its degradation in the lysosome (PubMed:19398555, PubMed:23818989). Deubiquitination by USP10 in early endosomes enhances its endocytic recycling to the cell membrane (PubMed:19398555). Ubiquitinated by RNF185 during ER stress (PubMed:24019521). Ubiquitinated by MARCHF2 (PubMed:23818989).",
"evidence": [
{
"database": "UniProtKB",
"id": "P13569",
"url": "https://www.uniprot.org/uniprot/P13569"
},
{
"database": "PubMed",
"id": "22119790",
"url": "https://glygen.org/publication/PubMed/22119790"
},
{
"database": "PubMed",
"id": "23818989",
"url": "https://glygen.org/publication/PubMed/23818989"
},
{
"database": "PubMed",
"id": "19398555",
"url": "https://glygen.org/publication/PubMed/19398555"
},
{
"database": "PubMed",
"id": "24019521",
"url": "https://glygen.org/publication/PubMed/24019521"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "R-HSA-1454916",
"name": "The ABCC family mediates organic anion transport",
"equation": "",
"summary": "The multidrug resistance associated protein (MRPs) subfamily of the ABC transporter family can transport a wide and diverse range of organic anions that can be endogenous compounds and xenobiotics and their metabolites. All human MRPs (except MRP9) can mediate these transport reactions (Deeley et al. 2006). Separately, specific reactions have also been annotated to describe the roles of ABCC4 in platelet dense granule assembly, of ABCC1 in LTC4 export (an aspect of leukotriene synthesis), and of ABCC3 in bile salt efflux.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [
"R-ALL-1454930"
],
"output_participant_list": [
"R-ALL-1454919"
],
"enzyme_list": [
"Q96J66-1",
"P13569-1",
"O15440-1",
"P33527-1",
"Q5T3U5-1",
"O15439-1",
"O95255-1",
"Q92887-1",
"O15438-1"
],
"evidence": [
{
"id": "R-HSA-1454916",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1454916"
}
]
},
{
"id": "R-HSA-383190",
"name": "HCO3- transport through ion channel",
"equation": "",
"summary": "Regulation of epithelial chloride flux, which is defective in patients with cystic fibrosis, may be mediated by phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR) by cyclic AMP-dependent protein kinase (PKA) or protein kinase C (PKC). CFTR regulates both HCO(3)(-) secretion and HCO(3)(-) salvage in secretory epithelia.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-383190",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383190"
}
]
},
{
"id": "R-HSA-5627071",
"name": "RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membrane",
"equation": "",
"summary": "While binding of GOPC (also known as CAL, PIST or FIG) to CFTR (cystic fibrosis transmembrane conductance regulator) promotes lysosomal degradation of CFTR, binding of active RHOQ to GOPC:CFTR complex redirects CFTR to the plasma membrane and prevents its degradation (Cheng et al. 2005).",
"cellular_location": "plasma membrane, Golgi-associated vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5627071",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627071"
}
]
},
{
"id": "R-HSA-5627072",
"name": "RHOQ binds GOPC:CFTR",
"equation": "",
"summary": "GTP-bound RHO GTPase RHOQ (TC10) binds GOPC (also known as PIST, CAL or FIG) dimer (Neudauer et al. 2001, Cheng et al. 2005) in complex with CFTR (cystic fibrosis transmembrane conductance regulator) on Golgi-associated vesicles (Cheng et al. 2005).",
"cellular_location": "Golgi-associated vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5627072",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627072"
}
]
},
{
"id": "R-HSA-5627275",
"name": "GOPC promotes translocation of CFTR to lysosomes",
"equation": "",
"summary": "Binding of GOPC (also known as CAL, PIST or FIG) to CFTR (cystic fibrosis transmembrane conductance regulator) promotes translocation of GOPC:CFTR complex to lysosomes, which is followed by lysosomal degradation of CFTR (Cheng et al. 2005).",
"cellular_location": "lysosomal membrane, Golgi-associated vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5627275",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5627275"
}
]
},
{
"id": "R-HSA-5678822",
"name": "Defective CFTR does not transport Cl- from cytosol to extracellular region",
"equation": "",
"summary": "Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat.
The most common mutation that causes CF is F508del (Kerem et al. 1989). Although more than 1,500 mutations of CFTR have been identified, only four mutations besides F508del reach a frequency of 1% to 3%: G551D, W1282X, G542X, and N1303K (Rogan et al. 2011, Cutting et al. 1990, Vidaud et al. 1990, Kerem et al. 1990, Cuppens et al. 1990, Osborne et al. 1991).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5678822",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678822"
}
]
},
{
"id": "R-HSA-5678863",
"name": "CFTR transports Cl- from cytosol to extracellular region",
"equation": "",
"summary": "Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells which plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver (Riordan et al. 1999, Ousingsawat et al. 2011).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5678863",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678863"
}
]
},
{
"id": "R-HSA-5678992",
"name": "Ivacaftor:CFTR G551D transports Cl- from cytosol to extracellular region",
"equation": "",
"summary": "Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells which plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat.
The class 3 mutations of CFTR such as G551D strongly decrease the time spent by CFTR in the open state (a gating defect). Results from 2-phase clinical trials using VX-770 (aka Ivacaftor), a CFTR potentiator, showed an increased CFTR channel open probability in G551D patients. Ivacaftor use showed improvements in CFTR and lung function of patients with at least one G551D allele (Accurso et al. 2010, Ramsey et al. 2011, Kapoor et al. 2014). In 2012, the FDA approved Ivacaftor (under the trade name Kalydeco) for use in cystic fibrosis patients with the G551D mutation (Ledford 2012).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5678992",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678992"
}
]
},
{
"id": "R-HSA-5679000",
"name": "Ivacaftor binds CFTR G551D",
"equation": "",
"summary": "Defects in cystic fibrosis transmembrane conductance regulator (CFTR) can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat. The class 3 mutations of CFTR such as G551D strongly decrease the time spent by CFTR in the open state (a gating defect). Results from 2-phase clinical trials using VX-770 (aka Ivacaftor), a CFTR potentiator, showed an increased CFTR channel open probability in G551D patients. Ivacaftor use showed improvements in CFTR and lung function of patients with at least one G551D allele (Accurso et al. 2010, Ramsey et al. 2011, Kapoor et al. 2014). In 2012, the FDA approved Ivacaftor (under the trade name Kalydeco) for use in cystic fibrosis patients with the G551D mutation (Ledford 2012).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-5679000",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5679000"
}
]
},
{
"id": "R-HSA-6782106",
"name": "USP10 deubiquitinates SNX3, CFTR",
"equation": "",
"summary": "USP10 deubiquitinates and stabilizes endogenous SNX3 and consequently promotes cell surface expression of ENaC (Boulkroun et al. 2008). USP10 deubiquitinates CFTR in early endosomes thereby enhancing its endocytic recycling (Bomberger et al. 2009).",
"cellular_location": "cytosol, endosome membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q14694-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-6782106",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782106"
}
]
},
{
"id": "R-HSA-8866277",
"name": "AP-2 directly binds some endocytic cargo",
"equation": "",
"summary": "AP-2 is a heterotetrameric complex that was originally identified as a factor required to help assemble clathrin at the plasma membrane to promote endocytosis (Keen et al, 1987; reviewed in Robinson, 2015). In addition to its structural role, AP-2 also contributes to cargo recognition and recruitment through direct binding of tyrosine- and dileucine-based sorting motifs in the cytoplasmic tails of cargo such as the transferrin receptor, cation dependent and independent mannose-6-phosphate receptors, CFTR, CD3 and CD4 proteins, glucose transporters and the viral Nef protein, among many others (Collawn et al, 1990; Jadot et al, 1992; Storch and Braulke, 2001; Ohno et al, 1995; Letourneur and Klausner, 1992; Kelly et al, 2008; Schmidt et al, 2006; Doray et al, 2007; Chaudhuri et al, 2007; Lindwasser et al, 2008; Collaco et al, 2010; Fu et al, 2012; reviewed in Traub and Bonifacino, 2013). Both membrane recruitment and interaction of AP-2 with the sorting signals of cargo are mediated by the large 'trunk' domain of AP-2, made up of the medium and small subunits and the N-terminal domains of the 2 large subunits (Collins et al, 2002; Heuser and Keen, 1988; Owen and Evans, 1998; Kelly et al, 2008; reviewed in Traub and Bonifacino, 2013).
AP-2 also facilitates the recruitment of many other endocytic cargo indirectly by binding to CLASP proteins (clathrin associated sorting proteins) that themselves interact with cargo (Schmid et al, 2006; Edeling et al, 2006; reviewed in Traub and Bonifacino, 2013). CLASP proteins generally interact with AP-2 through the globular 'beta-2 ear', one of 2 ear domains made up of the C-terminal regions of the two large subunits (reviewed in Owen, 2004; Schmid and McMahon, 2007).
",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866277",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866277"
}
]
},
{
"id": "R-HSA-8866542",
"name": "VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol",
"equation": "",
"summary": "Retrotranslocation of the misfolded CFTR likely depends on the ERAD ATPase VCP (reviewed in Vembar and Brodsky, 2008; Pranke and Sermet-Gaudelus, 2014).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866542",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866542"
}
]
},
{
"id": "R-HSA-8866546",
"name": "RNF5 and RNF185 ubiquitinate misfolded CFTR",
"equation": "",
"summary": "RNF5 and RNF185 ubiquitinate misfolded CFTR as part of the retrotranslocon that targets the receptor for degradation through the ERAD pathway. Both depletion of the E3 ligases by siRNA and expression of a catalytically inactive form of the enzyme strongly inhibits CFTR degradation (El Khouri et al, 2013; Younger et al, 2006).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866546",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866546"
}
]
},
{
"id": "R-HSA-8866551",
"name": "CFTR binds components of the ERAD machinery for ubiquitination and degradation",
"equation": "",
"summary": "Up to two thirds of wild-type CFTR is targeted for co-translational degradation by the ERAD pathway due to inefficient folding (Jensen et al, 1995; Ward et al, 1994; Ward et al, 1995; Gelman et al, 2002; Lukacs et al, 1994). Misfolded CFTR is ubiquitinated in the ER by E3 ligases RNF5 and RNF185, likely as part of a mulitprotein retrotranslocation complex containing the hexameric ATPase VCP and various scaffolding and structural proteins (reviewed in Vembar and Brodsky, 2008). Consistent with this, RNF185 interacts directly both with CFTR and with other components of the ERAD machinery, including E2 proteins, ERLIN and DERLIN proteins (Younger et al, 2006; El Khouri et al, 2013).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866551",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866551"
}
]
},
{
"id": "R-HSA-8866553",
"name": "misfolded CFTR is degraded by the 26S proteasome",
"equation": "",
"summary": "After VCP-mediated translocation to the cytosol, misfolded CFTR is degraded by the 26S proteasome (El Khouri et al, 2013).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"A5LHX3-1",
"O00487-1",
"P28074-1",
"Q99436-1",
"P28072-1",
"P13569-1",
"P40306-1",
"P28065-1",
"P28062-1"
],
"evidence": [
{
"id": "R-HSA-8866553",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866553"
}
]
},
{
"id": "R-HSA-8866851",
"name": "CFTR transits to the plasma membrane",
"equation": "",
"summary": "The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-regulated chloride ion channel that undergoes multiple folding processes and post-translational modifications during its biosynthesis. 60-80% of CFTR protein encoded by the wild-type (WT) gene is successfully modified and transits the secretory system to the plasma membrane. The remaining misfolded protein is targeted for degradation by the ER, lysosomes or autophagy (reviewed in Pranke and Sermet-Gaudelus, 2014)",
"cellular_location": "plasma membrane",
"input_participant_list": [
"R-HSA-8866837"
],
"output_participant_list": [
"R-HSA-383188"
],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866851",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866851"
}
]
},
{
"id": "R-HSA-8866854",
"name": "VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol",
"equation": "",
"summary": "Retrotranslocation of the misfolded CFTR F508del likely depends on the ERAD ATPase VCP (reviewed in Vembar and Brodsky, 2008; Pranke and Sermet-Gaudelus, 2014).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866854",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866854"
}
]
},
{
"id": "R-HSA-8866856",
"name": "RNF5 and RNF185 ubiquitinate CFTR F508del",
"equation": "",
"summary": "RNF5 and RNF185 ubiquitinate CFTR F508del as part of the retrotranslocon that targets the receptor for degradation through the ERAD pathway. Both depletion of the E3 ligases by siRNA and expression of a catalytically inactive form of the enzyme strongly inhibits CFTR degradation (El Khouri et al, 2013; Younger et al, 2006).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866856",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866856"
}
]
},
{
"id": "R-HSA-8866857",
"name": "CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation",
"equation": "",
"summary": "Deletion of phenylalanine 508 in CFTR is the most prevalent mutation causing cystic fibrosis (Riordan et al, 1989; Kerem et al, 1989). F508 deletion causes destabilization and subsequent targeting for co-translational degradation by the ER-associated degradation machinery (ERAD). Like misfolded WT CFTR protein, F508del is ubiquitinated by ERAD-associated E3 ligases including RNF5 and RNF 185, targeting it for VCP-mediated retrotranslocation and 26S proteasomal degradation (Meachem et al, 2001; Rosser et al, 2008; Younger et al, 2004; Younger et al, 2006; El Khouri et al, 2013; reviewed in Pranke and Sermet-Gaudelus, 2014).",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q96GF1-1",
"Q99942-1",
"P55072-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8866857",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866857"
}
]
},
{
"id": "R-HSA-8866858",
"name": "CFTR F508del is degraded by the 26S proteasome",
"equation": "",
"summary": "After VCP-mediated translocation to the cytosol, misfolded CFTR F508del is degraded by the 26S proteasome (El Khouri et al, 2013).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"A5LHX3-1",
"O00487-1",
"P28074-1",
"Q99436-1",
"P28072-1",
"P13569-1",
"P40306-1",
"P28065-1",
"P28062-1"
],
"evidence": [
{
"id": "R-HSA-8866858",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866858"
}
]
},
{
"id": "R-HSA-8867754",
"name": "F- and N- BAR domain proteins bind the clathrin-coated pit",
"equation": "",
"summary": "BAR (BIN/amphiphysin/Rvs) domain proteins sense and contribute to membrane curvature. BAR domain proteins generally form long, coiled-coil homo- or hetero-dimers with a concave inner surface that interacts with membranes (reviewed in Gallop and McMahon, 2005; Daumke et al, 2014). F-BAR domain proteins such as FCHo 1 and 2 recognize shallow membrane curvature and are generally recruited early in the formation of clathrin-coated pit (Itoh et al, 2005; Kamioka et al, 2004; Henne et al, 2007; Shimada et al, 2007; Henne et al, 2010). FNBP proteins and N-BAR containing endocytic proteins such as SNX9 and 18, amphiphysin (AMPH) and endophilins recognize regions of membrane with greater curvature, interact with dynamin and likely play a later role in CCP formation with spatiotemporal coupling to vesicle scission (Kamioka et al, 2004; Itoh et al, 2005; Soulet et al, 2005; Shimada et al, 2007; Shin et al, 2008; Taylor et al, 2011; reveiwed in McMahon and Boucrot, 2011). These proteins are recruited to the complex through interactions with core components of the clathrin-coated pit, and in the case of SNX9, also through interaction with PI(3,4)P2, which is generated at late stages by clathrin-associated PIK3C2A (Lundmark and Carlson, 2003; Schmid et al, 2006; Dergai et al, 2010; Brett et al, 2002 : Posor et al, 2013; reviewed in Daumke et al, 2014). Early BAR domain containing proteins such as FCHo1 and 2 are not present in either late stage clathrin-coated pits or in free clathrin-coated vesicles. Although the precise timing of their dissociation is not known, in this pathway, they are shown leaving the clathrin-coated pit upon recruitment of the more highly curved N-BAR proteins (Taylor et al, 2011).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00443-1",
"P00533-1",
"P22681-1",
"Q2M2I8-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8867754",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867754"
}
]
},
{
"id": "R-HSA-8867756",
"name": "CLASP proteins and cargo are recruited to the nascent clathrin-coated pit",
"equation": "",
"summary": "CLASP proteins are recruited to nascent clathrin-coated pits (CCPs) through interactions with AP-2 and clathrin. Although in this pathway cargo recruitment is depicted as occuring after the recruitment of bulk AP-2 and clathrin, a number of studies suggest that they are largely recruited concomitantly (Liu et al, 2010; reviewed in McMahon and Boucrot, 2011). Concurrent interactions with sorting signals in cargo cytoplasmic tails and with clathrin and/or AP-2 ensure that CLASPs and cargo are incorporated into the emerging CCP (Schmid et al, 2006; Edeling et al, 2006; reviewed in Traub, 2009; Traub and Bonifacino, 2013; Kirchausen et al, 2014). In addition, incorporation of CLASPs and cargo may play a role in regulating the timing and dynamics of endocytosis (Loerke et al, 2009; Mettlen et al, 2009; Soohoo et al, 2013; Mettlen et al, 2010; Puthenveedu et al, 2005).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00533-1",
"P22681-1",
"Q2M2I8-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8867756",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867756"
}
]
},
{
"id": "R-HSA-8868071",
"name": "Clathrin recruits PIK3C2A",
"equation": "",
"summary": "PIK3C2A is a member of the class II PI 3 kinases, and phosphorylates PI(4)P to PI(3,4)P2 at the plasma membrane. PIK3C2A interacts with clathrin through a clathrin-binding domain in its unique N-terminal tail and localizes to late-stage clathrin-coated pits (Domin et al, 2000; Gaidarov et al, 2001; Gaidarov et al, 2005). Binding to clathrin stimulates the kinase activity of PIK3C2A and promotes the production of PI(3,4)P2 at the plasma membrane (Gaidarov et al, 2001). PI(3,4)P2 formation by PIK3C2A contributes to maturation of clathrin-coated pits by promoting the recruitment of BAR-domain containing proteins such as SNX9, which stimulate membrane curvature required for vesicle formation and eventual fission (Posor et al, 2013; reveiwed in Daumke et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00443-1",
"P00533-1",
"P22681-1",
"Q2M2I8-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8868071",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868071"
}
]
},
{
"id": "R-HSA-8868072",
"name": "Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2",
"equation": "",
"summary": "Clathrin-associated PIK3C2A catalyzes the conversion of PI(4)P to PI(3,4)P2, which contributes to the recruitment of BAR domain proteins such as SNX9 to the clathrin-coated pit (Domin et al, 2000; Gaidarov et al, 2001; Gaidarov et al, 2005; Posor et al, 2013; reviewed in Daumke et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00443-1",
"P00533-1",
"P22681-1",
"Q2M2I8-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8868072",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868072"
}
]
},
{
"id": "R-HSA-8868230",
"name": "SNX9 recruits components of the actin polymerizing machinery",
"equation": "",
"summary": "Actin polymerization is not absolutely required for clathrin-mediated endocytosis, and disruption of actin does not interfere with the early stages of clathrin-coated pit formation. Actin is required to complete vesicle formation under conditions of high membrane tension, such as on the apical side of polarized epithelial cell, while actin is dispensable for this process in the absence of membrane tension (Boulant et al, 2011). In cases where actin is required, it appears to be recruited late to the emerging clathrin-coated pit, just prior to or coincident with the recruitment of dynamin and vesicle scission (Taylor et al, 2011; Taylor et al, 2012; reviewed in McMahon and Boucrot, 2011). Recruitment of actin depends on the ARP2/3 complex, and cortactin or the neural Wiscott-Aldrich syndrome proteins WASL. These proteins, in turn, are recruited through interactions with N-BAR domain containing proteins such as SNX9 (Yarar et al, 2007; Shin et al, 2007; Shin et al, 2008; Ferguson et al, 2009; reviewed in Lundmark and Carlsson, 2009; McMahon and Boucrot, 2011).
HIP1 and HIP1R are additional components of the late clathrin-coated pit that interact with clathrin and AP-2 and may contribute to actin nucleation (Waelter et al, 2001; Mishra et al, 2001;Metzler et al, 2001; Legendre-Guillemin et al, 2002; Wilbur et al, 2008; Taylor et al, 2011).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P63261-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8868230",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868230"
}
]
},
{
"id": "R-HSA-8868236",
"name": "BAR domain proteins recruit dynamin",
"equation": "",
"summary": "Dynamin is a large GTPase whose GTP hydrolysis activity is required for the scission of clathrin-coated vesicles from the plasma membrane (reviewed in Ferguson and De Camilli, 2012). Dynamin is recruited to the plasma membrane through protein-protein interactions with many components of the clathrin-coated pit including ITSNs, SNX9 and 18 and amphiphysin (Lundmark and Carlsson, 2003; Soulet et al, 2005; David et al, 1996; Owen et al, 1998; Shupliakov et al, 1997). Although dynamin is recruited at lower levels throughout formation of the clathrin-coated pit, the bulk of dynamin is recruited at late stages, after the incorporation of BAR domain-containing proteins and actin-polymerizing factors (Ferguson et al, 2009; Taylor et al, 2011; Taylor et al, 2012; Posor et al, 2013; Meineke et al, 2013; Aguet et al, 2013; reviewed in Daumke et al, 2014). Several BAR domain proteins have SH3 domains that bind the proline rich domain (PRD) of dynamin. These interactions regulate dynamin GTPsae activity and vesicle formation (Neuman and Schmid, 2013). To facilitate scission of a clathrin-coated pit from the plasma membrane, dynamin self assembles into helical oligomers, stimulating its GTPase activity and contributing to the membrane remodeling required to form the neck of the emerging vesicle (Sweitzer and Hinshaw 1998; Yoshida et al, 2004; Chappie et al, 2010; Faelber et al, 2011; Ford et al, 2011; reviewed in McMahon and Boucrot, 2011; Daumke et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-8868236",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868236"
}
]
},
{
"id": "R-HSA-8868648",
"name": "SYNJ hydrolyze PI(4,5)P2 to PI(4)P",
"equation": "",
"summary": "Inositol-5-phosphatases like SYNJs and OCRL hydrolyze PI(4,5)P2 to PI(4)P. In the context of CME, this promotes the abortive turnover (disassembly) of some CCPs, contributes to the dynamin-mediated scission of the clathrin-coated vesicle neck, and promotes clathrin uncoating following scission (Guan et al, 2010; Cremona et al, 1999; Mani et al, 2007; Chang-Ileto et al, 2011; Antonescu et al, 2011; reviewed in McMahon and Boucrot, 2011; Daumke et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868648",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868648"
}
]
},
{
"id": "R-HSA-8868651",
"name": "Endophilins recruit synaptojanins to the clathrin-coated pit",
"equation": "",
"summary": "Synaptojanin (SYNJ) 1 and 2 are inositol-5-phosphatases that sequentially convert PI(4,5)P2 to PI(4)P and PI (Cremona et al 1999; reviewed in Billcliff and Lowe, 2014). Conversion of PI(4,5)P2 to PI(4)P and PI accompanies maturation of the clathrin-coated pit, and consistent with this, SYNJ proteins are recruited to the clathrin-coated pit through interactions with a number of endocytic proteins including ITSNs, EPS15, PACSIN proteins and endophilins, as well as with clathrin and AP-2 (Haffner et al, 1997; Cestra et al, 1999; Maire et al, 2004; Schuske et al, 2003; Verstreken et al, 2003; Modregger et al, 2000; Perera et al 2006; Milosevic et al, 2011; reviewed in Dittman and Ryan, 2009). SYJN1 exists in two isoforms, a longer 170 kDA isoform and a shorter 145 kDA isoform, with slightly different roles. The recruitment and activity of SYNJ1-145 appears to largely coincide with that of dynamin at later stages of vesicle formation, while the SYNJ1-170 isoform also plays earlier roles in stabilizing the growing clathrin-coated vesicle (Perera et al, 2006; Taylor et al, 2011; Antonescu et al, 2011). SYNJ-mediated hydrolysis of PI(4,5)P2 to PI(4)P is most efficient on highly curved, endophilin-coated tubules of the vesicle neck and contributes to dynamin-mediated membrane scission (Chang-Ileto et al, 2011; reviewed in Daumke et al, 2014; McMahon and Boucrot, 2011).
In addition to SYNJ1 and 2, other inositol-5-phosphatases are also recruited to the CCP at the time of scission. These include OCRL, which is recruited through interaction with clathrin as well as the RAB5 interactor APPL1 (Erdmann et al, 2007; Mao et al, 2009; Taylor et al, 2011; Nandez et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868651",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868651"
}
]
},
{
"id": "R-HSA-8868658",
"name": "HSPA8-mediated ATP hydrolysis promotes vesicle uncoating",
"equation": "",
"summary": "HSPA8 hydrolyzes ATP to promote dissociation of the clathrin coat from the vesicle (reviewed in Sousa and Lafer, 2015). Interaction of HSPA8 with the C-terminal tail of clathrin may sterically block re-stabilization of the clathrin coat, which is thought to undergo transient cycles of 'breathing', or loosening of the interactions between the triskelions (Barouch et al, 1997; Rapoport et al, 2008; Xing et al, 2010). Alternately, HSPA8 may destabilize the clathrin coat through intermolecular collisions with the coat (reveiwed in Sousa and Lafer, 2015). The HSPA8-clathrin interaction persists once clathrin has been removed from the vesicle. This is thought to preclude aberrant repolymerization of clathrin by sequestering free clathrin (Schlossman et al, 1984; reviewed in Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P11142-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868658",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868658"
}
]
},
{
"id": "R-HSA-8868659",
"name": "Clathrin recruits auxilins to the clathrin-coated vesicle",
"equation": "",
"summary": "After fission from the plasma membrane, auxilin proteins DNAJC6 and GAK are recruited to the vesicle through interaction with clathrin and phosphoinositides, in particular PI4P (Greener et al, 2000; Lee et al, 2006; Massol et al, 2006; Taylor et al, 2011; Scheele et al, 2001; Fotin et al, 2004a; Fotin et al, 2004b; Guan et al, 2010; reviewed in McMahon and Boucrot, 2011; Sousa and Lafer, 2015). Auxilin in turn recruits the ATPase HSPA8 (also known as HSC70) , which uses the energy from ATP hydrolysis to remove the clathrin-coat from the vesicle, priming it for fusion with a subsequent endosomal compartment (Schlossman et al, 1984; Ungewickell et al, 1995; Rappoport et al, 2008; Xing et al, 2010; Bocking et al, 2011; Rothnie et al, 2011; reviewed in McMahon and Boucrot, 2011; Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868659",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868659"
}
]
},
{
"id": "R-HSA-8868660",
"name": "Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle",
"equation": "",
"summary": "HSPA8 (also known as HSC70) is recruited to the clathrin-coated vesicle through interaction with DNA J proteins GAK and DNAJC6 (Rapoport et al, 2008; Xing et al, 2010; reviewed in Sousa and Lafer, 2015). Recent studies examining the stoichiometry of uncoating predict between one and three HSPA8 molecules are required per clathrin triskelion for maximal uncoating in vitro (Bocking et al, 2011; Rothnie et al, 2011). After ATP hydrolysis, HSPA8 remains associated with the liberated clathrin, which prevents aberrant repolymerization and association of clathrin (Schlossman et al, 1984; reviewed in Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P11142-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868660",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868660"
}
]
},
{
"id": "R-HSA-8868661",
"name": "Dynamin-mediated GTP hydrolysis promotes vesicle scission",
"equation": "",
"summary": "Self-assembly of dynamin around the neck of the emerging clathrin-coated vesicle stimulates its GTPase activity. This in turn promotes a conformational change in dynamin organization that is required for membrane fission (Hinshaw and Schmid, 1995; Sweitzer and Hinshaw, 1998; Takei et al, 1999; Yoshida et al, 2004; Chappie et al, 2010; Chappie et al, 2011; Ford et al, 2011; Faelber et al, 2011; reviewed in Daumke et al, 2014).",
"cellular_location": "plasma membrane, clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868661",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868661"
}
]
},
{
"id": "R-HSA-8869438",
"name": "Dissociation of clathrin-associated proteins",
"equation": "",
"summary": "After the removal of the clathrin coat, it is likely that many of the proteins that contributed to vesicle formation are lost, although the timing and mechanism of this step are poorly understood (reviewed in McMahon and Boucrot, 2011; Lemmon, 2001).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8869438",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8869438"
}
]
},
{
"id": "R-HSA-8871193",
"name": "Dissociation of AAK1 and dephosphorylation of AP-2 mu2",
"equation": "",
"summary": "GAPVD1 binds the alpha adaptin ear domain of AP-2 mu2, activating its RAB5-directed GEF activity and displacing AAK1. AAK1 displacement results in a net dephosphorylation of the AP-2 mu2 subunit, destabilizing the interaction of AP-2 with the vesicle membrane (Sato et al, 2005; Smerdjieva et al, 2008). In addition, RAB5 contributes to PI(4,5)P2 turnover through recruitment of a PI3K or PI phosphatase, and this also destabilizes the interaction of AP-2 with the membrane (Smerdjieva et al, 2008; Christoforidis et al, 1999; Shin et al, 2005).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8871193",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8871193"
}
]
},
{
"id": "R-HSA-8871194",
"name": "RAB5 and GAPVD1 bind AP-2",
"equation": "",
"summary": "RAB5 is a small GTPase that is implicated in clathrin-mediated endocytosis (Chavrier et al, 1990; McLauchlan et al, 1998; Shin et al, 2002; Taylor et al, 2011; reviewed in Stenmark, 2009; Wandiger-Ness and Zerial, 2014). Recent studies have shown that RAB5 and its associated GEF GAPVD1 may contribute to AP-2 uncoating by displacing AAK1 and promoting the net dephosphorylation of the AP-2 mu2 subunit. This is predicted to destabilize interactions with the plasma membrane and promote uncoating (Sato et al, 2005; Hunker et al, 2006; Smerdjieva et al, 2008). RAB5 and GAPVD1 also increase PI(4,5)P2 turnover, likely through recruitment of a class I PI3K or a PI phosphatase (Christoforidis et al, 1999; Shin et al, 2005).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8871194",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8871194"
}
]
},
{
"id": "R-HSA-9615721",
"name": "HSPA8 binds substrate",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds substrate proteins in the cytosol. HSPA8 recognizes a motif based on the charge of the amino acids (Chiang H et al. 1989, Dice JF et al. 1990). This allows the motif to have multiple sequence possibilities and also create a motif through post-translational modifications such as phosphorylation and acetylation. Once bound with HSPA8, the substrates are targeted to the lysosome or endosome.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9615721",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615721"
}
]
},
{
"id": "R-HSA-9620197",
"name": "HSPA8:Substrate binds LAMP2a",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a) (Cuervo AM and Dice JF. 1996). Four positively charged amino acids in the cytosolic tail of the LAMP2a isoform is known to regulate the binding mechanism (Cuervo AM and Dice JF. 2000). Experiments confirming this binding were performed on rat models.",
"cellular_location": "cytosol, lysosomal membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9620197",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9620197"
}
]
},
{
"id": "R-HSA-9622831",
"name": "Substrate:LAMP2a binds HSP90",
"equation": "",
"summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). HSPA8 is then released from this complex. Subsequently, Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a (Bandyopadhyay U et al. 2008). This facilitates the multimerization of LAMP2a and internalization of substrate into the lumen. Experiments confirming this binding were performed on rat models.",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9622831",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9622831"
}
]
},
{
"id": "R-HSA-9622840",
"name": "HSPA8 dissociates from LAMP2A-bound substrate",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from the cytosol to the lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Post-binding, HSPA8 is released from the complex to allow multimerization of LAMP2a and internalization of the substrate (Bandyopadhyay U et al. 2008). Experiments confirming this binding were performed on rat models.",
"cellular_location": "cytosol, lysosomal membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9622840",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9622840"
}
]
},
{
"id": "R-HSA-9624158",
"name": "Substrate:LAMP2a:HSP90 polymerizes",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the Hspa8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, HSPA8 is released and Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a. Binding of HSP90 stabilizes LAMP2 to multimerize into a 700 kDa complex (Bandyopadhyay U et al. 2008). This facilitates the internalization of substrate into the lumen. Experiments confirming this binding were performed on rat models.",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9624158",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9624158"
}
]
},
{
"id": "R-HSA-9625188",
"name": "HSPA8 transports unfolded substrate to lysosomal lumen for degradation",
"equation": "",
"summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from the cytosol to the lysosomal membrane. Subsequently, the substrate unfolds and binds to HSPA8 in the lysosomal lumen. HSPA8 facilitates the transport of the unfolded substrate to the lumen where it is then degraded (Agarraberes FA et al. 1997, Cuervo AM et al. 1997).",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9625188",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625188"
}
]
},
{
"id": "R-HSA-9625196",
"name": "Unfolded substrate in LAMP2a multimeric complex binds HSPA8",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds a KFERQ-domain containing substrate in the cytosol and translocates to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, Hspa8 is released and Heat shock protein HSP90 binds to the lysosomal luminal end of LAMP2a. The LAMP2a complex then multimerizes and stabilizes. Now, the substrate unfolds and binds to HSPA8 in the lysosomal lumen (Agarraberes FA et al. 1997, Cuervo AM et al. 1997). Subsequently, the substrate is internalized and degraded in the lumen. Experiments confirming this interaction were performed in rats.",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9625196",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625196"
}
]
},
{
"id": "R-HSA-9625197",
"name": "GFAP binds LAMP2a multimer",
"equation": "",
"summary": "Intracellular proteins are targeted for proteolytic degradation in the lysosome with the aid of chaperones. Heat shock cognate 71 kDa protein (HSPA8) acts as the constitutive chaperone that binds KFERQ-domain containing substrates in the cytosol. Consequently, the HSPA8:Substrate complex translocates from cytosol to lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). Subsequently, HSPA8 is released and Heat shock protein HSP 90 binds to the lysosomal luminal end of LAMP2a. This LAMP2a complex then multimerizes into a 700 kDa entity and is stabilized by the binding of Glial fibrillary acidic protein (GFAP) (Bandyopadhyay U et al. 2010). Subsequently, the substrate is unfolded and internalized into the lumen. Experiments confirming this binding were performed on rat models.",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9625197",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9625197"
}
]
},
{
"id": "R-HSA-9626060",
"name": "HSPA8:Substrate dissociates from LAMP2a multimer",
"equation": "",
"summary": "Heat shock cognate 71 kDa protein (HSPA8) translocates substrates from the cytosol to the lysosomal membrane where it binds to Lysosome-associated membrane glycoprotein 2 (LAMP2a). The LAMP2a complex then multimerizes and stabilizes. Subsequently, the substrate unfolds and translocates to the lumen. The substrate bound HSPA8 then dissociates from LAMP2a multimer (Agarraberes FA et al. 1997, Cuervo AM et al. 1997). The function of LAMP2a multimer is now complete and starts to disassemble.",
"cellular_location": "lysosomal membrane, lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9626060",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9626060"
}
]
},
{
"id": "R-HSA-9631065",
"name": "Substrate translocates into late endosomal lumen",
"equation": "",
"summary": "In addition to bulk protein degradation, Microautophagy (MI) can also target KFERQ motif protein substrates similar to Chaperone Mediated Autophagy (CMA). However, MI is distinct from CMA in that it occurs during late endosomes/multivesicular bodies formation. Upon binding with Hspa8, substrates are transported from the cytosol to late endosomes. HSPA8 binds with the phospholipids on the late endosomal membrane. Subsequently, the substrate is transported into the lumen via endosomal sorting complexes required for transport (ESCRTI and ESCRTIII systems) (Sahu R et al. 2011). This event is represented as a black box since the precise molecular mechanism of the substrate transport into the endosomal lumen is unclear. Experiments confirming this event were performed in mouse.",
"cellular_location": "cytosol, late endosome membrane, late endosome lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9631065",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9631065"
}
]
},
{
"id": "R-HSA-9631068",
"name": "HSPA8:substrate binds late endosomal phospholipids",
"equation": "",
"summary": "Microautophagy (MI) can target KFERQ motif containing protein substrates to endosomal degradation. Upon binding with HSPA8, substrates are transported from the cytosol to late endosomes. Here, HSPA8 binds with the phospholipids on the late endosomal membrane. This interaction facilitates the vesicle-mediated transport of HSPA8:substrate complex into the late endosomes for degradation (Sahu R et al. 2011). Experiments confirming this interaction were performed in mouse cells.",
"cellular_location": "cytosol, late endosome membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11142-1",
"Q99497-1",
"Q9UBN7-1",
"P07998-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9631068",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9631068"
}
]
},
{
"id": "R-HSA-9641109",
"name": "PolyUb:misfolded proteins dissociate from PRKN:UBE2N:UBE2V1",
"equation": "",
"summary": "Misfolded proteins from cellular stress are destined for degradation via ubiquitination. The E2 ubiquitin conjugating enzymes UBE2N/UBE2V1 and E3 ligase enzyme Parkin recruit and tag multiple K63-linked ubiquitin molecules to the misfolded proteins. Subsequently, the polyubiquitinated proteins dissociate from the E2/E3 system and are driven to degradation (Olzmann JA et al. 2007).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60260-1",
"Q99497-1",
"P61088-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9641109",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9641109"
}
]
},
{
"id": "R-HSA-9641111",
"name": "Parkin transfers Ub to misfolded proteins",
"equation": "",
"summary": "Misfolded proteins in the cytosol are tagged with ubiquitin molecules via the E2 UBE2N/UBE2V1 conjugation complex and E3 ligase Parkin. Misfolded proteins bind Parkin and subsequently Parkin transfers ubiquitin from E2 complex to the proteins (Olzmann JA et al. 2007).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60260-1",
"Q99497-1",
"P61088-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9641111",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9641111"
}
]
},
{
"id": "R-HSA-9641127",
"name": "Ub:misfolded proteins polymerize to PolyUb:misfolded proteins",
"equation": "",
"summary": "Misfolded proteins in the cytosol are targeted to degradation via ubiquitination. The E2 UBE2N/UBE2V1 and E3 ligase ubiquitination system recruits and transfers ubiquitin molecules to misfolded proteins. The E3 ligase Parkin tags the proteins with multiple K63-linked ubiquitin molecules (Olzmann JA et al. 2007).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60260-1",
"Q99497-1",
"P61088-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9641127",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9641127"
}
]
},
{
"id": "R-HSA-9646347",
"name": "PolyUb-misfolded proteins bind VCP:HDAC6:HSP90:HSF1",
"equation": "",
"summary": "When the proteasome machinery is deregulated, misfolded proteins are eliminated by forming aggresomes. To this end, poly-ubiquitinated misfolded proteins bind to a complex comprising of Transitional endoplasmic reticulum ATPase (VCP), Histone deacetylase 6 (HDAC6), Heat shock protein HSP 90 (HSP90) and Heat shock factor protein 1 (HSF1). HDAC6 in the complex interacts with the ubiquitin molecules in the misfolded proteins. Following this binding event, this complex starts dissociating (Boyault C et al. 2007).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P55072-1",
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9646347",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646347"
}
]
},
{
"id": "R-HSA-9646348",
"name": "PolyUb-Misfolded Proteins:HDAC6 bind dynein motor",
"equation": "",
"summary": "Histone deacetylase 6 (HDAC6) plays a key role in the removal of misfolded proteins when the proteosome system is dysregulated. HDAC6 associates with poly-ubiquitinated misfolded proteins and also to the dynein motor system. Subsequently, this complex of HDAC6,misfolded proteins and dynein motor form aggresomes (Kawaguchi Y et al. 2003).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q99497-1",
"Q9UBN7-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9646348",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646348"
}
]
},
{
"id": "R-HSA-9646354",
"name": "PolyUb-Misfolded Proteins:HDAC6 dissociate from complex",
"equation": "",
"summary": "Histone deacetylase 6 (HDAC6) appears to be a master regulator of the cell protective response to cytotoxic protein aggregate formation (Boyault et al. 2007).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P55072-1",
"P07900-1",
"Q99497-1",
"Q9UBN7-1",
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9646354",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646354"
}
]
},
{
"id": "R-HSA-9646383",
"name": "Dynein motors transport misfolded proteins",
"equation": "",
"summary": "Misfolded proteins are transported from the microtubule to the microtubule-organizing center (MTOC) in a dynein-mediated mechanism. Dynein motors carry the cargo along the microtubules from the plus end to the minus end (Garcia Mata R et al. 1999). Confirmatory experiments were performed in grivet cell lines.",
"cellular_location": "cytosol, microtubule organizing center",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"Q99497-1",
"P68363-1",
"Q9UBN7-1",
"P13569-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-9646383",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646383"
}
]
},
{
"id": "R-HSA-9646390",
"name": "Misfolded proteins:HDAC6:Dynein motor binds microtubule",
"equation": "",
"summary": "Histone deacetylase 6 (HDAC6) binds misfolded proteins destined to form aggresomes and subsequently delivers this to dynein motor proteins. HDAC6 can also bind to microtubules thereby anchoring the misfolded proteins and the dynein motor to the microtubule (Hubbert C et al. 2002). Following this, the dynein motors traverse the microtubule to reach the microtubule-organizing center (MTOC).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"Q99497-1",
"P68363-1",
"Q9UBN7-1",
"P13569-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-9646390",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646390"
}
]
},
{
"id": "R-HSA-9646679",
"name": "PolyUb-Misfolded proteins bind vimentin to form aggresome",
"equation": "",
"summary": "Dynein motor complex drives the multi-ubiquitinated misfolded proteins along the microtubule towards the microtubule organizing center. Here, intermediate filament proteins such as vimentin (VIM) are redistributed to ensheath misfolded proteins to form the aggresome (Johnston JA et al. 1998). Subsequently, the aggresome is removed with the help of autophagy machinery.",
"cellular_location": "microtubule organizing center",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"Q99497-1",
"P68363-1",
"Q9UBN7-1",
"P13569-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-9646679",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646679"
}
]
},
{
"id": "R-HSA-9646685",
"name": "Aggresome dissociates from dynein and microtubule",
"equation": "",
"summary": "Misfolded proteins are transformed into aggresomes at the microtubule organizing center. Dynein motor proteins facilitate the transport of misfolded proteins along the microtubule. Subsequently, the system disassembles to release the aggresome. The aggresome then recruits chaperone to be degraded by the autophagy machinery (Garcia Mata R et al. 1999).",
"cellular_location": "microtubule organizing center",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"Q99497-1",
"P68363-1",
"Q9UBN7-1",
"P13569-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-9646685",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646685"
}
]
},
{
"id": "R-HSA-9700266",
"name": "CFTR F508del binds CFTR correctors",
"equation": "",
"summary": "Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is a chloride channel in the apical membrane of epithelial cells where it functions to maintain salt and fluid homeostasis. CF is the most common autosomal recessive disease in Caucasian populations. It is a life-limiting condition, with respiratory failure secondary to end-stage lung disease as the main cause of mortality. The majority of disease-causing mutations lead to misfolding of CFTR, including the deletion of phenylalanine at position 508, F508del, occurring in around 90% of patient alleles. Misfolding results in a defective channel where the mutant protein is either released to the cell surface, where it displays dysfunctionality, or is retained in the ER and translocated into the cytosol for degradation by the proteasome.
CFTR correctors have been developed that rescue misfolded mutant CFTRs from the ER that can then translocate to the cell surface to allow any mutant to gain functionality (Mijnders et al. 2017). Small molecule CFTR correctors such as the approved drugs elexacaftor, lumacaftor and tezacaftor and the next-generation corrector bamocaftor have the potential to improve up to 90% of CF patients with the F508del mutation when combined with a CFTR potentiator such as ivacaftor (Keating et al. 2018, Davies et al. 2018, Heijerman et al. 2019).",
"cellular_location": "cytosol, endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P13569-1"
],
"evidence": [
{
"id": "R-HSA-9700266",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9700266"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-1454919",
"participant_name": "organic anion [extracellular region]",
"crossref": [
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-1454930",
"participant_name": "organic anion [cytosol]",
"crossref": [
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
},
{
"id": "25696",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-383188",
"participant_name": "CFTR [plasma membrane]",
"crossref": [
{
"id": "8EIO",
"database": "PDB",
"url": ""
},
{
"id": "5TFC",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP02121",
"database": "HMDB Protein",
"url": ""
},
{
"id": "5D2D",
"database": "PDB",
"url": ""
},
{
"id": "7SVD",
"database": "PDB",
"url": ""
},
{
"id": "7SV7",
"database": "PDB",
"url": ""
},
{
"id": "5TF8",
"database": "PDB",
"url": ""
},
{
"id": "6GJS",
"database": "PDB",
"url": ""
},
{
"id": "15441",
"database": "Orphanet",
"url": ""
},
{
"id": "3GD7",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - World Drugs",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Substances",
"url": ""
},
{
"id": "5TFD",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "PRO",
"url": ""
},
{
"id": "5TFG",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "GeneCards",
"url": ""
},
{
"id": "8FZQ",
"database": "PDB",
"url": ""
},
{
"id": "5TGK",
"database": "PDB",
"url": ""
},
{
"id": "7QI1",
"database": "PDB",
"url": ""
},
{
"id": "7SVR",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSG00000001626",
"database": "OpenTargets",
"url": ""
},
{
"id": "5TFA",
"database": "PDB",
"url": ""
},
{
"id": "6GKD",
"database": "PDB",
"url": ""
},
{
"id": "2LOB",
"database": "PDB",
"url": ""
},
{
"id": "6UK1",
"database": "PDB",
"url": ""
},
{
"id": "6HEP",
"database": "PDB",
"url": ""
},
{
"id": "5TF7",
"database": "PDB",
"url": ""
},
{
"id": "2PZG",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000003084",
"database": "Ensembl",
"url": ""
},
{
"id": "5UAK",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - FDA approved",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Biogenic",
"url": ""
},
{
"id": "8EJ1",
"database": "PDB",
"url": ""
},
{
"id": "5D3F",
"database": "PDB",
"url": ""
},
{
"id": "6GK4",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "ZINC target",
"url": ""
},
{
"id": "8EIQ",
"database": "PDB",
"url": ""
},
{
"id": "5TFF",
"database": "PDB",
"url": ""
},
{
"id": "1XMJ",
"database": "PDB",
"url": ""
},
{
"id": "5.6.1.6",
"database": "IntEnz",
"url": ""
},
{
"id": "6O2P",
"database": "PDB",
"url": ""
},
{
"id": "707",
"database": "Guide to Pharmacology - Targets",
"url": ""
},
{
"id": "5TFJ",
"database": "PDB",
"url": ""
},
{
"id": "5TFI",
"database": "PDB",
"url": ""
},
{
"id": "6GJQ",
"database": "PDB",
"url": ""
},
{
"id": "5TFB",
"database": "PDB",
"url": ""
},
{
"id": "2PZF",
"database": "PDB",
"url": ""
},
{
"id": "NP_000483.3",
"database": "RefSeq",
"url": ""
},
{
"id": "6ZE1",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000001626-CFTR",
"database": "HPA",
"url": ""
},
{
"id": "ENSP00000497203",
"database": "Ensembl",
"url": ""
},
{
"id": "P13569",
"database": "UniProt",
"url": ""
},
{
"id": "1XMI",
"database": "PDB",
"url": ""
},
{
"id": "2BBS",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000649781",
"database": "Ensembl",
"url": ""
},
{
"id": "6GJU",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000003084",
"database": "Ensembl",
"url": ""
},
{
"id": "4WZ6",
"database": "PDB",
"url": ""
},
{
"id": "8EIG",
"database": "PDB",
"url": ""
},
{
"id": "6WBS",
"database": "PDB",
"url": ""
},
{
"id": "6MSM",
"database": "PDB",
"url": ""
},
{
"id": "3ISW",
"database": "PDB",
"url": ""
},
{
"id": "5D3E",
"database": "PDB",
"url": ""
},
{
"id": "2BBT",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000001626",
"database": "Ensembl",
"url": ""
},
{
"id": "2BBO",
"database": "PDB",
"url": ""
},
{
"id": "2PZE",
"database": "PDB",
"url": ""
},
{
"id": "6O1V",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Predictions - Purchasable",
"url": ""
}
]
},
{
"participant_id": "R-HSA-8866837",
"participant_name": "CFTR [endoplasmic reticulum membrane]",
"crossref": [
{
"id": "P13569",
"database": "UniProt",
"url": ""
},
{
"id": "5TGK",
"database": "PDB",
"url": ""
},
{
"id": "5TFJ",
"database": "PDB",
"url": ""
},
{
"id": "7SVD",
"database": "PDB",
"url": ""
},
{
"id": "2BBS",
"database": "PDB",
"url": ""
},
{
"id": "7SVR",
"database": "PDB",
"url": ""
},
{
"id": "1XMJ",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "PRO",
"url": ""
},
{
"id": "2BBO",
"database": "PDB",
"url": ""
},
{
"id": "5UAK",
"database": "PDB",
"url": ""
},
{
"id": "6GJQ",
"database": "PDB",
"url": ""
},
{
"id": "8EIO",
"database": "PDB",
"url": ""
},
{
"id": "8EIG",
"database": "PDB",
"url": ""
},
{
"id": "2LOB",
"database": "PDB",
"url": ""
},
{
"id": "8EIQ",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Substances",
"url": ""
},
{
"id": "2BBT",
"database": "PDB",
"url": ""
},
{
"id": "2PZG",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000001626-CFTR",
"database": "HPA",
"url": ""
},
{
"id": "6GJS",
"database": "PDB",
"url": ""
},
{
"id": "6GJU",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000001626",
"database": "OpenTargets",
"url": ""
},
{
"id": "707",
"database": "Guide to Pharmacology - Targets",
"url": ""
},
{
"id": "8FZQ",
"database": "PDB",
"url": ""
},
{
"id": "2PZE",
"database": "PDB",
"url": ""
},
{
"id": "8EJ1",
"database": "PDB",
"url": ""
},
{
"id": "2PZF",
"database": "PDB",
"url": ""
},
{
"id": "5D2D",
"database": "PDB",
"url": ""
},
{
"id": "4WZ6",
"database": "PDB",
"url": ""
},
{
"id": "6GKD",
"database": "PDB",
"url": ""
},
{
"id": "6GK4",
"database": "PDB",
"url": ""
},
{
"id": "3GD7",
"database": "PDB",
"url": ""
},
{
"id": "3ISW",
"database": "PDB",
"url": ""
},
{
"id": "5TF7",
"database": "PDB",
"url": ""
},
{
"id": "6ZE1",
"database": "PDB",
"url": ""
},
{
"id": "7SV7",
"database": "PDB",
"url": ""
},
{
"id": "1XMI",
"database": "PDB",
"url": ""
},
{
"id": "7QI1",
"database": "PDB",
"url": ""
},
{
"id": "5.6.1.6",
"database": "IntEnz",
"url": ""
},
{
"id": "5TFG",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Predictions - Purchasable",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - FDA approved",
"url": ""
},
{
"id": "5TFI",
"database": "PDB",
"url": ""
},
{
"id": "5TFC",
"database": "PDB",
"url": ""
},
{
"id": "6WBS",
"database": "PDB",
"url": ""
},
{
"id": "6UK1",
"database": "PDB",
"url": ""
},
{
"id": "5TFF",
"database": "PDB",
"url": ""
},
{
"id": "5TFD",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000001626",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000003084",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000497203",
"database": "Ensembl",
"url": ""
},
{
"id": "5TF8",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000649781",
"database": "Ensembl",
"url": ""
},
{
"id": "P13569",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "6O2P",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "GeneCards",
"url": ""
},
{
"id": "6O1V",
"database": "PDB",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - Biogenic",
"url": ""
},
{
"id": "5TFB",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP02121",
"database": "HMDB Protein",
"url": ""
},
{
"id": "ENST00000003084",
"database": "Ensembl",
"url": ""
},
{
"id": "5TFA",
"database": "PDB",
"url": ""
},
{
"id": "P13569",
"database": "ZINC target",
"url": ""
},
{
"id": "CFTR_HUMAN",
"database": "ZINC - World Drugs",
"url": ""
},
{
"id": "5D3E",
"database": "PDB",
"url": ""
},
{
"id": "6HEP",
"database": "PDB",
"url": ""
},
{
"id": "NP_000483.3",
"database": "RefSeq",
"url": ""
},
{
"id": "15441",
"database": "Orphanet",
"url": ""
},
{
"id": "6MSM",
"database": "PDB",
"url": ""
},
{
"id": "5D3F",
"database": "PDB",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A5LHX3",
"gene_name": "PSMB11",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "A5LHX3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A5LHX3"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "A5LHX3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A5LHX3"
}
]
}
]
},
{
"uniprot_ac": "A6NHL2",
"gene_name": "TUBAL3",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A6NHL2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NHL2"
}
]
}
]
},
{
"uniprot_ac": "O00443",
"gene_name": "PIK3C2A",
"activity": [
{
"ec_number": "2.7.1.153",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + ADP + H(+).",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
},
{
"ec_number": "2.7.1.137",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ADP + H(+).",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
},
{
"ec_number": "2.7.1.154",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + ADP + H(+).",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
},
{
"ec_number": "2.7.1.137",
"activity": "",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
},
{
"ec_number": "2.7.1.154",
"activity": "",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
},
{
"ec_number": "2.7.1.153",
"activity": "",
"evidence": [
{
"id": "O00443",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00443"
}
]
}
]
},
{
"uniprot_ac": "O00487",
"gene_name": "PSMD14",
"activity": [
{
"ec_number": "3.4.19.-",
"activity": "",
"evidence": [
{
"id": "O00487",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00487"
}
]
}
]
},
{
"uniprot_ac": "O14976",
"gene_name": "GAK",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "O14976",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14976"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "O14976",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O14976"
}
]
}
]
},
{
"uniprot_ac": "O15056",
"gene_name": "SYNJ2",
"activity": [
{
"ec_number": "3.1.3.36",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
"evidence": [
{
"id": "O15056",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15056"
}
]
},
{
"ec_number": "3.1.3.36",
"activity": "",
"evidence": [
{
"id": "O15056",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15056"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "O15056",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15056"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "",
"evidence": [
{
"id": "O15056",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15056"
}
]
}
]
},
{
"uniprot_ac": "O15438",
"gene_name": "ABCC3",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
}
]
},
{
"uniprot_ac": "O15439",
"gene_name": "ABCC4",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15439"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O15439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15439"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15439"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "O15439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15439"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "O15439",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15439"
}
]
}
]
},
{
"uniprot_ac": "O15440",
"gene_name": "ABCC5",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15440"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O15440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15440"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "O15440",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15440"
}
]
}
]
},
{
"uniprot_ac": "O43426",
"gene_name": "SYNJ1",
"activity": [
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "O43426",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O43426"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "",
"evidence": [
{
"id": "O43426",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O43426"
}
]
},
{
"ec_number": "3.1.3.36",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
"evidence": [
{
"id": "O43426",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O43426"
}
]
},
{
"ec_number": "3.1.3.36",
"activity": "",
"evidence": [
{
"id": "O43426",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O43426"
}
]
}
]
},
{
"uniprot_ac": "O60260",
"gene_name": "PRKN",
"activity": [
{
"ec_number": "2.3.2.31",
"activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.",
"evidence": [
{
"id": "O60260",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60260"
}
]
},
{
"ec_number": "2.3.2.31",
"activity": "",
"evidence": [
{
"id": "O60260",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60260"
}
]
},
{
"ec_number": "6.3.2.19",
"activity": "",
"evidence": [
{
"id": "O60260",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60260"
}
]
}
]
},
{
"uniprot_ac": "O75061",
"gene_name": "DNAJC6",
"activity": [
{
"ec_number": "3.1.3.48",
"activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.",
"evidence": [
{
"id": "O75061",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75061"
}
]
},
{
"ec_number": "3.1.3.48",
"activity": "",
"evidence": [
{
"id": "O75061",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O75061"
}
]
}
]
},
{
"uniprot_ac": "O95255",
"gene_name": "ABCC6",
"activity": [
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O95255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95255"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "O95255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95255"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O95255",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95255"
}
]
}
]
},
{
"uniprot_ac": "P00533",
"gene_name": "EGFR",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P00533",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00533"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "P00533",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00533"
}
]
}
]
},
{
"uniprot_ac": "P07900",
"gene_name": "HSP90AA1",
"activity": [
{
"ec_number": "3.6.4.10",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "P07900",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07900"
}
]
},
{
"ec_number": "3.6.4.10",
"activity": "",
"evidence": [
{
"id": "P07900",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07900"
}
]
}
]
},
{
"uniprot_ac": "P07998",
"gene_name": "RNASE1",
"activity": [
{
"ec_number": "4.6.1.18",
"activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].",
"evidence": [
{
"id": "P07998",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07998"
}
]
},
{
"ec_number": "4.6.1.18",
"activity": "",
"evidence": [
{
"id": "P07998",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07998"
}
]
}
]
},
{
"uniprot_ac": "P0DPH7",
"gene_name": "TUBA3C",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P0DPH7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH7"
}
]
}
]
},
{
"uniprot_ac": "P0DPH8",
"gene_name": "TUBA3D",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P0DPH8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH8"
}
]
}
]
},
{
"uniprot_ac": "P11142",
"gene_name": "HSPA8",
"activity": [
{
"ec_number": "3.6.4.10",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "P11142",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11142"
}
]
},
{
"ec_number": "3.6.4.10",
"activity": "",
"evidence": [
{
"id": "P11142",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11142"
}
]
}
]
},
{
"uniprot_ac": "P13569",
"gene_name": "CFTR",
"activity": [
{
"ec_number": "5.6.1.6",
"activity": "ATP + H2O + closed Cl(-) channel = ADP + phosphate + open Cl(-) channel.",
"evidence": [
{
"id": "P13569",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13569"
}
]
},
{
"ec_number": "5.6.1.6",
"activity": "",
"evidence": [
{
"id": "P13569",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P13569"
}
]
}
]
},
{
"uniprot_ac": "P20339",
"gene_name": "RAB5A",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "P20339",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20339"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "P20339",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20339"
}
]
}
]
},
{
"uniprot_ac": "P22681",
"gene_name": "CBL",
"activity": [
{
"ec_number": "2.3.2.27",
"activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.",
"evidence": [
{
"id": "P22681",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22681"
}
]
},
{
"ec_number": "2.3.2.27",
"activity": "",
"evidence": [
{
"id": "P22681",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P22681"
}
]
}
]
},
{
"uniprot_ac": "P28062",
"gene_name": "PSMB8",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "P28062",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28062"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "P28062",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28062"
}
]
}
]
},
{
"uniprot_ac": "P28065",
"gene_name": "PSMB9",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "P28065",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28065"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "P28065",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28065"
}
]
}
]
},
{
"uniprot_ac": "P28072",
"gene_name": "PSMB6",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "P28072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28072"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "P28072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28072"
}
]
}
]
},
{
"uniprot_ac": "P28074",
"gene_name": "PSMB5",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "P28074",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28074"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "P28074",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28074"
}
]
}
]
},
{
"uniprot_ac": "P33527",
"gene_name": "ABCC1",
"activity": [
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "P33527",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P33527"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "P33527",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P33527"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "P33527",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P33527"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "P33527",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P33527"
}
]
}
]
},
{
"uniprot_ac": "P40306",
"gene_name": "PSMB10",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "P40306",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P40306"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "P40306",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P40306"
}
]
}
]
},
{
"uniprot_ac": "P50570",
"gene_name": "DNM2",
"activity": [
{
"ec_number": "3.6.5.5",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "P50570",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50570"
}
]
},
{
"ec_number": "3.6.5.5",
"activity": "",
"evidence": [
{
"id": "P50570",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P50570"
}
]
}
]
},
{
"uniprot_ac": "P51148",
"gene_name": "RAB5C",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "P51148",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51148"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "P51148",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P51148"
}
]
}
]
},
{
"uniprot_ac": "P55072",
"gene_name": "VCP",
"activity": [
{
"ec_number": "3.6.4.6",
"activity": "ATP + H2O = ADP + H(+) + phosphate.",
"evidence": [
{
"id": "P55072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55072"
}
]
},
{
"ec_number": "3.6.4.6",
"activity": "",
"evidence": [
{
"id": "P55072",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P55072"
}
]
}
]
},
{
"uniprot_ac": "P60709",
"gene_name": "ACTB",
"activity": [
{
"ec_number": "3.6.4.-",
"activity": "",
"evidence": [
{
"id": "P60709",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P60709"
}
]
}
]
},
{
"uniprot_ac": "P61020",
"gene_name": "RAB5B",
"activity": [
{
"ec_number": "3.6.5.2",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "P61020",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P61020"
}
]
},
{
"ec_number": "3.6.5.2",
"activity": "",
"evidence": [
{
"id": "P61020",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P61020"
}
]
}
]
},
{
"uniprot_ac": "P61088",
"gene_name": "UBE2N",
"activity": [
{
"ec_number": "2.3.2.23",
"activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.",
"evidence": [
{
"id": "P61088",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P61088"
}
]
},
{
"ec_number": "2.3.2.23",
"activity": "",
"evidence": [
{
"id": "P61088",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P61088"
}
]
}
]
},
{
"uniprot_ac": "P63261",
"gene_name": "ACTG1",
"activity": [
{
"ec_number": "3.6.4.-",
"activity": "",
"evidence": [
{
"id": "P63261",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P63261"
}
]
}
]
},
{
"uniprot_ac": "P68363",
"gene_name": "TUBA1B",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P68363",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P68363"
}
]
}
]
},
{
"uniprot_ac": "P68366",
"gene_name": "TUBA4A",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P68366",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P68366"
}
]
}
]
},
{
"uniprot_ac": "Q01968",
"gene_name": "OCRL",
"activity": [
{
"ec_number": "3.1.3.86",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate.",
"evidence": [
{
"id": "Q01968",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q01968"
}
]
},
{
"ec_number": "3.1.3.56",
"activity": "1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate.",
"evidence": [
{
"id": "Q01968",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q01968"
}
]
},
{
"ec_number": "3.1.3.36",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
"evidence": [
{
"id": "Q01968",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q01968"
}
]
},
{
"ec_number": "3.1.3.56",
"activity": "",
"evidence": [
{
"id": "Q01968",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q01968"
}
]
},
{
"ec_number": "3.1.3.36",
"activity": "",
"evidence": [
{
"id": "Q01968",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q01968"
}
]
}
]
},
{
"uniprot_ac": "Q05193",
"gene_name": "DNM1",
"activity": [
{
"ec_number": "3.6.5.5",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "Q05193",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q05193"
}
]
},
{
"ec_number": "3.6.5.5",
"activity": "",
"evidence": [
{
"id": "Q05193",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q05193"
}
]
}
]
},
{
"uniprot_ac": "Q14694",
"gene_name": "USP10",
"activity": [
{
"ec_number": "3.4.19.12",
"activity": "Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).",
"evidence": [
{
"id": "Q14694",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q14694"
}
]
},
{
"ec_number": "3.4.19.12",
"activity": "",
"evidence": [
{
"id": "Q14694",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q14694"
}
]
}
]
},
{
"uniprot_ac": "Q2M2I8",
"gene_name": "AAK1",
"activity": [
{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "Q2M2I8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q2M2I8"
}
]
},
{
"ec_number": "2.7.11.1",
"activity": "",
"evidence": [
{
"id": "Q2M2I8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q2M2I8"
}
]
}
]
},
{
"uniprot_ac": "Q5T3U5",
"gene_name": "ABCC10",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q5T3U5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5T3U5"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q5T3U5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5T3U5"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "Q5T3U5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5T3U5"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "Q5T3U5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5T3U5"
}
]
}
]
},
{
"uniprot_ac": "Q6PEY2",
"gene_name": "TUBA3E",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "Q6PEY2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6PEY2"
}
]
}
]
},
{
"uniprot_ac": "Q71U36",
"gene_name": "TUBA1A",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "Q71U36",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q71U36"
}
]
}
]
},
{
"uniprot_ac": "Q92887",
"gene_name": "ABCC2",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q92887",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92887"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "Q92887",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92887"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q92887",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92887"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "Q92887",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92887"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "Q92887",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q92887"
}
]
}
]
},
{
"uniprot_ac": "Q96GF1",
"gene_name": "RNF185",
"activity": [
{
"ec_number": "2.3.2.27",
"activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.",
"evidence": [
{
"id": "Q96GF1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96GF1"
}
]
},
{
"ec_number": "2.3.2.27",
"activity": "",
"evidence": [
{
"id": "Q96GF1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96GF1"
}
]
}
]
},
{
"uniprot_ac": "Q96J66",
"gene_name": "ABCC11",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q96J66",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96J66"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "Q96J66",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96J66"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "Q96J66",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96J66"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "Q96J66",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q96J66"
}
]
}
]
},
{
"uniprot_ac": "Q99436",
"gene_name": "PSMB7",
"activity": [
{
"ec_number": "3.4.25.1",
"activity": "Cleavage of peptide bonds with very broad specificity.",
"evidence": [
{
"id": "Q99436",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99436"
}
]
},
{
"ec_number": "3.4.25.1",
"activity": "",
"evidence": [
{
"id": "Q99436",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99436"
}
]
}
]
},
{
"uniprot_ac": "Q99497",
"gene_name": "PARK7",
"activity": [
{
"ec_number": "3.5.1.124",
"activity": "H2O + S-(1-hydroxy-2-oxopropyl)-L-cysteinyl-[protein] = H(+) + L-cysteinyl-[protein] + lactate.",
"evidence": [
{
"id": "Q99497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99497"
}
]
},
{
"ec_number": "3.5.1.124",
"activity": "",
"evidence": [
{
"id": "Q99497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99497"
}
]
},
{
"ec_number": "3.1.2.-",
"activity": "",
"evidence": [
{
"id": "Q99497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99497"
}
]
},
{
"ec_number": "3.5.1.-",
"activity": "",
"evidence": [
{
"id": "Q99497",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99497"
}
]
}
]
},
{
"uniprot_ac": "Q99942",
"gene_name": "RNF5",
"activity": [
{
"ec_number": "2.3.2.27",
"activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.",
"evidence": [
{
"id": "Q99942",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99942"
}
]
},
{
"ec_number": "2.3.2.27",
"activity": "",
"evidence": [
{
"id": "Q99942",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q99942"
}
]
}
]
},
{
"uniprot_ac": "Q9BQE3",
"gene_name": "TUBA1C",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "Q9BQE3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9BQE3"
}
]
}
]
},
{
"uniprot_ac": "Q9H853",
"gene_name": "TUBA4B",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "Q9H853",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9H853"
}
]
}
]
},
{
"uniprot_ac": "Q9NY65",
"gene_name": "TUBA8",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "Q9NY65",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9NY65"
}
]
}
]
},
{
"uniprot_ac": "Q9UBN7",
"gene_name": "HDAC6",
"activity": [
{
"ec_number": "3.5.1.98",
"activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].",
"evidence": [
{
"id": "Q9UBN7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UBN7"
}
]
},
{
"ec_number": "3.5.1.98",
"activity": "",
"evidence": [
{
"id": "Q9UBN7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UBN7"
}
]
},
{
"ec_number": "3.5.1.-",
"activity": "",
"evidence": [
{
"id": "Q9UBN7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UBN7"
}
]
}
]
},
{
"uniprot_ac": "Q9UQ16",
"gene_name": "DNM3",
"activity": [
{
"ec_number": "3.6.5.5",
"activity": "GTP + H2O = GDP + H(+) + phosphate.",
"evidence": [
{
"id": "Q9UQ16",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UQ16"
}
]
},
{
"ec_number": "3.6.5.5",
"activity": "",
"evidence": [
{
"id": "Q9UQ16",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q9UQ16"
}
]
}
]
}
],
"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": [
894,
900
],
"o_linked_sites": [],
"snv_sites": [
8,
189,
371,
417,
418,
425,
464,
529,
661,
684,
708,
760,
786,
894,
896,
900,
902,
908,
912,
967,
976,
1214,
1226
],
"glycation_sites": [],
"phosphorylation_sites": [
291,
422,
511,
512,
515,
517,
549,
573,
582,
604,
641,
660,
670,
682,
686,
700,
707,
712,
717,
737,
753,
768,
790,
791,
795,
813,
1176,
1362,
1444,
1456,
1471
],
"sequon_annotation_sites": [
{
"start_pos": 1148,
"end_pos": 1150
},
{
"start_pos": 1229,
"end_pos": 1231
},
{
"start_pos": 1454,
"end_pos": 1456
},
{
"start_pos": 306,
"end_pos": 308
},
{
"start_pos": 386,
"end_pos": 388
},
{
"start_pos": 396,
"end_pos": 398
},
{
"start_pos": 432,
"end_pos": 434
},
{
"start_pos": 48,
"end_pos": 50
},
{
"start_pos": 597,
"end_pos": 599
},
{
"start_pos": 801,
"end_pos": 803
},
{
"start_pos": 894,
"end_pos": 896
},
{
"start_pos": 900,
"end_pos": 902
}
]
},
"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": 2
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"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": 2
},
{
"field": "total_sites",
"count": 2
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 2
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"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_with_glycan",
"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_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": 53
},
{
"field": "total_sites",
"count": 31
}
],
"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": 24
},
{
"field": "total_sites",
"count": 23
}
],
"sort_fields": [
"start_pos",
"end_pos",
"subjects_tested",
"subjects_positive",
"frequency",
"sequence_org",
"sequence_mut",
"comment",
"chr_id",
"chr_pos",
"ref_nt",
"alt_nt",
"minor_allelic_frequency",
"site_lbl"
]
},
{
"table_id": "snv_disease",
"table_stats": [
{
"field": "total",
"count": 14
},
{
"field": "total_sites",
"count": 14
}
],
"sort_fields": [
"start_pos",
"end_pos",
"subjects_tested",
"subjects_positive",
"frequency",
"sequence_org",
"sequence_mut",
"comment",
"chr_id",
"chr_pos",
"ref_nt",
"alt_nt",
"minor_allelic_frequency",
"site_lbl"
]
},
{
"table_id": "snv_non_disease",
"table_stats": [
{
"field": "total",
"count": 10
},
{
"field": "total_sites",
"count": 9
}
],
"sort_fields": [
"start_pos",
"end_pos",
"subjects_tested",
"subjects_positive",
"frequency",
"sequence_org",
"sequence_mut",
"comment",
"chr_id",
"chr_pos",
"ref_nt",
"alt_nt",
"minor_allelic_frequency",
"site_lbl"
]
},
{
"table_id": "publication",
"table_stats": [
{
"field": "total",
"count": 526
}
],
"sort_fields": [
"title",
"journal",
"date",
"authors"
]
}
]
}