{ "uniprot_canonical_ac": "A6NIX2-1", "uniprot_ac": "A6NIX2", "uniprot_id": "WTIP_HUMAN", "mass": { "chemical_mass": 45124.0, "monoisotopic_mass": 45124.0 }, "refseq": { "ac": "NP_001073905", "name": "Wilms tumor protein 1-interacting protein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, "gene_names": [ { "name": "WTIP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NIX2", "id": "A6NIX2" }, { "name": "WTIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905", "id": "NP_001073905" } ], "protein_names": [ { "name": "Wilms tumor protein 1-interacting protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NIX2" }, { "name": "WT1-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NIX2" }, { "name": "Wilms tumor 1 interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905", "id": "NP_001073905" }, { "name": "Wilms tumor protein 1-interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905", "id": "NP_001073905" } ], "function": [ { "annotation": "Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadherin transcription. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. In podocytes, may play a role in the regulation of actin dynamics and/or foot process cytoarchitecture (By similarity). In the course of podocyte injury, shuttles into the nucleus and acts as a transcription regulator that represses WT1-dependent transcription regulation, thereby translating changes in slit diaphragm structure into altered gene expression and a less differentiated phenotype. Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A6NIX2", "url": "https://www.uniprot.org/uniprot/A6NIX2#function" }, { "database": "PubMed", "id": "20303269", "url": "https://glygen.org/publication/PubMed/20303269" }, { "database": "UniProtKB", "id": "A9LS46", "url": "https://www.uniprot.org/uniprot/A9LS46#function" }, { "database": "PubMed", "id": "21834987", "url": "https://glygen.org/publication/PubMed/21834987" }, { "database": "PubMed", "id": "20616046", "url": "https://glygen.org/publication/PubMed/20616046" }, { "database": "PubMed", "id": "22286099", "url": "https://glygen.org/publication/PubMed/22286099" } ] }, { "annotation": "Full-length Ror2 recruits Wtip to the cell membrane, a mutant involved in human disease fails to do so. Both genes and proteins show overlapping expression in the mouse embryo.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "19785987", "url": "https://glygen.org/publication/PubMed/19785987" } ] }, { "annotation": "Stress signaling pathways initiate WTIP nuclear translocation, and the concomitant loss of WTIP from cell contacts changes podocyte morphology and dynamic actin assembly, suggesting a mechanism that transmits changes in podocyte morphology to the nucleus.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "20086015", "url": "https://glygen.org/publication/PubMed/20086015" } ] }, { "annotation": "The S-phase-induced lncRNA SUNO1 promotes cell proliferation by controlling YAP1/Hippo signaling pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "33108271", "url": "https://glygen.org/publication/PubMed/33108271" } ] }, { "annotation": "The findings suggest that the UBA2-WTIP fusion is an oncogenic fusion gene, as well as a promising therapeutic target for the treatment of acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "30179602", "url": "https://glygen.org/publication/PubMed/30179602" } ] }, { "annotation": "WTIP impairs AKT phosphorylation and activation, leading to enhanced expression and transcriptional activity of FOXO1, which further increases p21Cip1 and p27Kip1, and decreases cyclin D1, which consequently results in cell cycle arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "30690883", "url": "https://glygen.org/publication/PubMed/30690883" } ] }, { "annotation": "WTIP is a member of the Ajuba family of LIM-domain containing proteins. Ajuba LIM proteins co-repress E-cadherin expression through interaction with the SNAG domain of Snail/Slug and promote epithelial to mesenchymal differentiation in a Xenopus model.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "18331720", "url": "https://glygen.org/publication/PubMed/18331720" } ] }, { "annotation": "WTIP monitors slit diaphragm protein assembly as part of a multiple protein complex, linking this specialized adhesion junction to the actin cytoskeleton, and shuttles into the nucleus after podocyte injury", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "14736876", "url": "https://glygen.org/publication/PubMed/14736876" } ] }, { "annotation": "WTIP upregulates FOXO3a and induces apoptosis through PUMA in acute myeloid leukemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "34930905", "url": "https://glygen.org/publication/PubMed/34930905" } ] }, { "annotation": "Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" }, { "database": "PubMed", "id": "35671065", "url": "https://glygen.org/publication/PubMed/35671065" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "74.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "64.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142279", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142279" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6NIX2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NIX2" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NIX2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NIX2" } ], "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": "" }, { 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"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", 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"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": "" }, { 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"MQRSRAGADEAALLLAGLALRELEPGCGSPGRGRRGPRPGPGDEAAPALGRRGKGSGGPEAGADGLSRGERGPRRAAVPELSAQPAGSPRASLAGSDGGGGGGSARSSGISLGYDQRHGSPRSGRSDPRPGPGPPSVGSARSSVSSLGSRGSAGAYADFLPPGACPAPARSPEPAGPAPFPLPALPLPPGREGGPSAAERRLEALTRELERALEARTARDYFGICIKCGLGIYGAQQACQAMGSLYHTDCFTCDSCGRRLRGKAFYNVGEKVYCQEDFLYSGFQQTADKCSVCGHLIMEMILQALGKSYHPGCFRCSVCNECLDGVPFTVDVENNIYCVRDYHTVFAPKCASCARPILPAQGCETTIRVVSMDRDYHVACYHCEDCGLQLSGEEGRRCYPLAGHLLCRRCHLRRLQPGPLPSPTVHVTEL", "length": 430, "header": "sp|A6NIX2-1|WTIP_HUMAN Isoform 1 of Wilms tumor protein 1-interacting protein OS=Homo sapiens OX=9606 GN=WTIP PE=1 SV=3 CANONICAL=A6NIX2-1" }, "isoforms": [ { "isoform_ac": "A6NIX2-1", "url": "", "sequence": { "sequence": "MQRSRAGADEAALLLAGLALRELEPGCGSPGRGRRGPRPGPGDEAAPALGRRGKGSGGPEAGADGLSRGERGPRRAAVPELSAQPAGSPRASLAGSDGGGGGGSARSSGISLGYDQRHGSPRSGRSDPRPGPGPPSVGSARSSVSSLGSRGSAGAYADFLPPGACPAPARSPEPAGPAPFPLPALPLPPGREGGPSAAERRLEALTRELERALEARTARDYFGICIKCGLGIYGAQQACQAMGSLYHTDCFTCDSCGRRLRGKAFYNVGEKVYCQEDFLYSGFQQTADKCSVCGHLIMEMILQALGKSYHPGCFRCSVCNECLDGVPFTVDVENNIYCVRDYHTVFAPKCASCARPILPAQGCETTIRVVSMDRDYHVACYHCEDCGLQLSGEEGRRCYPLAGHLLCRRCHLRRLQPGPLPSPTVHVTEL", "length": 430, "header": "sp|A6NIX2-1|WTIP_HUMAN Isoform 1 of Wilms tumor protein 1-interacting protein OS=Homo sapiens OX=9606 GN=WTIP PE=1 SV=3 CANONICAL=A6NIX2-1" }, "locus": { "chromosome": "19", "start_pos": 34500266, "end_pos": 34481975, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590071.7", "url": "https://www.ensembl.org/id/ENST00000590071.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000466953.2", "url": "https://www.ensembl.org/id/ENSP00000466953.2" } ] } }, { "isoform_ac": "K7EKM1-1", "url": "", "sequence": { "sequence": "XPLPPGREGGPSAAERRLEALTRELERALEARTARDYFGICIKCGLGIYGAQQACQAMGSLYHTDCFTCDSCGRRLRGKAFYNVGEKVYCQEDFLYSGFQQTADKCSVCGHLIMEMILQALGKSYHPGCFRCSVCNECLDGVPFTVDVENNIYCVRDYHTVFAPKCASCARPILPAQGCETTIRVVSMDRDYHVACYHCE", "length": 200, "header": "tr|K7EKM1-1|K7EKM1_HUMAN Computationally mapped isoform of WT1 interacting protein OS=Homo sapiens OX=9606 GN=WTIP PE=1 SV=1 CANONICAL=A6NIX2-1" }, "locus": { "chromosome": "19", "start_pos": 34495771, "end_pos": 34482528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585928.1", "url": "https://www.ensembl.org/id/ENST00000585928.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465683.1", "url": "https://www.ensembl.org/id/ENSP00000465683.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Iwai K, Yamanaka K, Kamura T, Minato N, Conaway RC, Conaway JW, Klausner RD, Pause A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10535940", "url": "https://glygen.org/publication/PubMed/10535940" } ] }, { "title": "Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10823831", "url": "https://glygen.org/publication/PubMed/10823831" } ] }, { "title": "Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.", "journal": "Nature cell biology", "date": "2000", "authors": "Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, Pavletich N, Chau V, Kaelin WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10878807", "url": "https://glygen.org/publication/PubMed/10878807" } ] }, { "title": "Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Tanimoto K, Makino Y, Pereira T, Poellinger L", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10944113", "url": "https://glygen.org/publication/PubMed/10944113" } ] }, { "title": "Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Kamura T, Sato S, Iwai K, Czyzyk-Krzeska M, Conaway RC, Conaway JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "10973499", "url": "https://glygen.org/publication/PubMed/10973499" } ] }, { "title": "Role of exon 2-encoded beta -domain of the von Hippel-Lindau tumor suppressor protein.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bonicalzi ME, Groulx I, de Paulsen N, Lee S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11024059", "url": "https://glygen.org/publication/PubMed/11024059" } ] }, { "title": "Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, von Kriegsheim A, Hebestreit HF, Mukherji M, Schofield CJ, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11292861", "url": "https://glygen.org/publication/PubMed/11292861" } ] }, { "title": "HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11292862", "url": "https://glygen.org/publication/PubMed/11292862" } ] }, { "title": "Dynamic, site-specific interaction of hypoxia-inducible factor-1alpha with the von Hippel-Lindau tumor suppressor protein.", "journal": "Cancer research", "date": "2001", "authors": "Yu F, White SB, Zhao Q, Lee FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11358837", "url": "https://glygen.org/publication/PubMed/11358837" } ] }, { "title": "Hypoxia-inducible factor-1 alpha (HIF-1 alpha) escapes O(2)-driven proteasomal degradation irrespective of its subcellular localization: nucleus or cytoplasm.", "journal": "EMBO reports", "date": "2001", "authors": "Berra E, Roux D, Richard DE, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11454738", "url": "https://glygen.org/publication/PubMed/11454738" } ] }, { "title": "HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Yu F, White SB, Zhao Q, Lee FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11504942", "url": "https://glygen.org/publication/PubMed/11504942" } ] }, { "title": "A conserved family of prolyl-4-hydroxylases that modify HIF.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Bruick RK, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "11598268", "url": "https://glygen.org/publication/PubMed/11598268" } ] }, { "title": "Oxygen-dependent ubiquitination and degradation of hypoxia-inducible factor requires nuclear-cytoplasmic trafficking of the von Hippel-Lindau tumor suppressor protein.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Groulx I, Lee S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12101228", "url": "https://glygen.org/publication/PubMed/12101228" } ] }, { "title": "Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Ivan M, Haberberger T, Gervasi DC, Michelson KS, Gunzler V, Kondo K, Yang H, Sorokina I, Conaway RC, Conaway JW, Kaelin WG Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12351678", "url": "https://glygen.org/publication/PubMed/12351678" } ] }, { "title": "Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Maynard MA, Qi H, Chung J, Lee EH, Kondo Y, Hara S, Conaway RC, Conaway JW, Ohh M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12538644", "url": "https://glygen.org/publication/PubMed/12538644" } ] }, { "title": "Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing.", "journal": "Journal of cell science", "date": "2003", "authors": "Metzen E, Berchner-Pfannschmidt U, Stengel P, Marxsen JH, Stolze I, Klinger M, Huang WQ, Wotzlaw C, Hellwig-Burgel T, Jelkmann W, Acker H, Fandrey J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12615973", "url": "https://glygen.org/publication/PubMed/12615973" } ] }, { "title": "Characterization of the human prolyl 4-hydroxylases that modify the hypoxia-inducible factor.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hirsila M, Koivunen P, Gunzler V, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12788921", "url": "https://glygen.org/publication/PubMed/12788921" } ] }, { "title": "Role of nuclear and cytoplasmic localization in the tumour-suppressor activity of the von Hippel-Lindau protein.", "journal": "Oncogene", "date": "2003", "authors": "Lewis MD, Roberts BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12821933", "url": "https://glygen.org/publication/PubMed/12821933" } ] }, { "title": "HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1alpha in normoxia.", "journal": "The EMBO journal", "date": "2003", "authors": "Berra E, Benizri E, Ginouves A, Volmat V, Roux D, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "12912907", "url": "https://glygen.org/publication/PubMed/12912907" } ] }, { "title": "A WT1 co-regulator controls podocyte phenotype by shuttling between adhesion structures and nucleus.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Srichai MB, Konieczkowski M, Padiyar A, Konieczkowski DJ, Mukherjee A, Hayden PS, Kamat S, El-Meanawy MA, Khan S, Mundel P, Lee SB, Bruggeman LA, Schelling JR, Sedor JR", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" } ], "reference": [ { "type": "PubMed", "id": "14736876", "url": "https://glygen.org/publication/PubMed/14736876" } ] }, { "title": "Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Appelhoff RJ, Tian YM, Raval RR, Turley H, Harris AL, Pugh CW, Ratcliffe PJ, Gleadle JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "15247232", "url": "https://glygen.org/publication/PubMed/15247232" } ] }, { "title": "Determination and comparison of specific activity of the HIF-prolyl hydroxylases.", "journal": "FEBS letters", "date": "2004", "authors": "Tuckerman JR, Zhao Y, Hewitson KS, Tian YM, Pugh CW, Ratcliffe PJ, Mole DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "15474027", "url": "https://glygen.org/publication/PubMed/15474027" } ] }, { "title": "Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase.", "journal": "Cancer cell", "date": "2005", "authors": "Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "15652751", "url": "https://glygen.org/publication/PubMed/15652751" } ] }, { "title": "Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.", "journal": "Human molecular genetics", "date": "2005", "authors": "Pollard PJ, Briere JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "15987702", "url": "https://glygen.org/publication/PubMed/15987702" } ] }, { "title": "Cell-type-specific regulation of degradation of hypoxia-inducible factor 1 alpha: role of subcellular compartmentalization.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Zheng X, Ruas JL, Cao R, Salomons FA, Cao Y, Poellinger L, Pereira T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "16738327", "url": "https://glygen.org/publication/PubMed/16738327" } ] }, { "title": "Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Koivunen P, Hirsila M, Remes AM, Hassinen IE, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "17182618", "url": "https://glygen.org/publication/PubMed/17182618" } ] }, { "title": "Expression and purification of catalytically active human PHD3 in Escherichia coli.", "journal": "Protein expression and purification", "date": "2007", "authors": "Fedulova N, Hanrieder J, Bergquist J, Emren LO", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "17434750", "url": "https://glygen.org/publication/PubMed/17434750" } ] }, { "title": "A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.", "journal": "The New England journal of medicine", "date": "2008", "authors": "Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "18184961", "url": "https://glygen.org/publication/PubMed/18184961" } ] }, { "title": "Ajuba LIM proteins are snail/slug corepressors required for neural crest development in Xenopus.", "journal": "Developmental cell", "date": "2008", "authors": "Langer EM, Feng Y, Zhaoyuan H, Rauscher FJ 3rd, Kroll KL, Longmore GD", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" } ], "reference": [ { "type": "PubMed", "id": "18331720", "url": "https://glygen.org/publication/PubMed/18331720" } ] }, { "title": "Prolyl hydroxylase PHD3 activates oxygen-dependent protein aggregation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Rantanen K, Pursiheimo J, Hogel H, Himanen V, Metzen E, Jaakkola PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "18337469", "url": "https://glygen.org/publication/PubMed/18337469" } ] }, { "title": "Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "19208626", "url": "https://glygen.org/publication/PubMed/19208626" } ] }, { "title": "The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "van Wijk NV, Witte F, Feike AC, Schambony A, Birchmeier W, Mundlos S, Stricker S", "evidence": [ { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" } ], "reference": [ { "type": "PubMed", "id": "19785987", "url": "https://glygen.org/publication/PubMed/19785987" } ] }, { "title": "Podocyte injury induces nuclear translocation of WTIP via microtubule-dependent transport.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Kim JH, Konieczkowski M, Mukherjee A, Schechtman S, Khan S, Schelling JR, Ross MD, Bruggeman LA, Sedor JR", "evidence": [ { "database": "UniProtKB", "id": "A6NIX2", "url": "https://www.uniprot.org/uniprot/A6NIX2" }, { "database": "RefSeq", "id": "NP_001073905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073905" } ], "reference": [ { "type": "PubMed", "id": "20086015", "url": "https://glygen.org/publication/PubMed/20086015" } ] }, { "title": "Ajuba LIM proteins are negative regulators of the Hippo signaling pathway.", "journal": "Current biology : CB", "date": "2010", "authors": "Das Thakur M, Feng Y, Jagannathan R, Seppa MJ, Skeath JB, Longmore GD", "evidence": [ { "database": "UniProtKB", "id": "A6NIX2", "url": "https://www.uniprot.org/uniprot/A6NIX2" } ], "reference": [ { "type": "PubMed", "id": "20303269", "url": "https://glygen.org/publication/PubMed/20303269" } ] }, { "title": "LIM-domain proteins, LIMD1, Ajuba, and WTIP are required for microRNA-mediated gene silencing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "James V, Zhang Y, Foxler DE, de Moor CH, Kong YW, Webb TM, Self TJ, Feng Y, Lagos D, Chu CY, Rana TM, Morley SJ, Longmore GD, Bushell M, Sharp TV", "evidence": [ { "database": "UniProtKB", "id": "A6NIX2", "url": "https://www.uniprot.org/uniprot/A6NIX2" } ], "reference": [ { "type": "PubMed", "id": "20616046", "url": "https://glygen.org/publication/PubMed/20616046" } ] }, { "title": "Differential sensitivity of hypoxia inducible factor hydroxylation sites to hypoxia and hydroxylase inhibitors.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Tian YM, Yeoh KK, Lee MK, Eriksson T, Kessler BM, Kramer HB, Edelmann MJ, Willam C, Pugh CW, Schofield CJ, Ratcliffe PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234176", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234176" } ], "reference": [ { "type": "PubMed", "id": "21335549", "url": "https://glygen.org/publication/PubMed/21335549" } ] }, { "title": "Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.", "journal": "BMC biology", "date": "2011", "authors": "Bai SW, Herrera-Abreu MT, Rohn JL, Racine V, Tajadura V, Suryavanshi N, Bechtel S, Wiemann S, Baum B, Ridley AJ", "evidence": [ { "database": "UniProtKB", "id": "A6NIX2", "url": "https://www.uniprot.org/uniprot/A6NIX2" } ], "reference": [ { "type": "PubMed", "id": "21834987", "url": "https://glygen.org/publication/PubMed/21834987" } ] }, { "title": "The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity.", "journal": "Nature cell biology", "date": "2012", "authors": "Foxler DE, Bridge KS, James V, Webb TM, Mee M, Wong SC, Feng Y, Constantin-Teodosiu D, Petursdottir TE, Bjornsson J, Ingvarsson S, Ratcliffe PJ, Longmore 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