{ "uniprot_canonical_ac": "Q9NWT6-1", "uniprot_ac": "Q9NWT6", "uniprot_id": "HIF1N_HUMAN", "mass": { "chemical_mass": 40285.0, "monoisotopic_mass": 40285.0 }, "refseq": { "ac": "NP_060372", "name": "hypoxia-inducible factor 1-alpha inhibitor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, "gene_names": [ { "name": "HIF1AN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NWT6", "id": "Q9NWT6" }, { "name": "FIH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "id": "NP_060372" }, { "name": "FIH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NWT6", "id": "Q9NWT6" }, { "name": "HIF1AN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "id": "NP_060372" } ], "protein_names": [ { "name": "Hypoxia-inducible factor 1-alpha inhibitor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NWT6" }, { "name": "1.14.11.30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWT6" }, { "name": "1.14.11.n4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWT6" }, { "name": "FIH-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWT6" }, { "name": "Factor inhibiting HIF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWT6" }, { "name": "Hypoxia-inducible factor asparagine hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWT6" }, { "name": "factor inhibiting HIF1; peptide-aspartate beta-dioxygenase; FIH-1; factor inhibiting HIF-1; hypoxia-inducible factor asparagine hydroxylase; hypoxia inducible factor 1 alpha subunit inhibitor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "id": "NP_060372" }, { "name": "hypoxia-inducible factor 1-alpha inhibitor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "id": "NP_060372" } ], "function": [ { "annotation": "FIH-1 is an asparaginyl hydroxylase enzyme that regulates the transcriptional activity of hypoxia-inducible factor", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" } ] }, { "annotation": "Factor inhibiting HIF can catalyze two asparaginyl hydroxylations in VNVN motifs of ankyrin fold proteins.", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "35537551", "url": "https://glygen.org/publication/PubMed/35537551" } ] }, { "annotation": "Gene name = FIH1Encoded protein (factor inhibiting HIF-1) is a co-repressor that interacts with hypoxia-inducible factor 1 (HIF-1) alpha and the von Hippel-Lindau tumor suppressor protein to mediate repression of HIF-1 transcriptional activity.", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "11641274", "url": "https://glygen.org/publication/PubMed/11641274" } ] }, { "annotation": "High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "34007987", "url": "https://glygen.org/publication/PubMed/34007987" } ] }, { "annotation": "Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6#function" }, { "database": "PubMed", "id": "21251231", "url": "https://glygen.org/publication/PubMed/21251231" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" }, { "database": "PubMed", "id": "18299578", "url": "https://glygen.org/publication/PubMed/18299578" }, { "database": "PubMed", "id": "17003112", "url": "https://glygen.org/publication/PubMed/17003112" }, { "database": "PubMed", "id": "19245366", "url": "https://glygen.org/publication/PubMed/19245366" }, { "database": "PubMed", "id": "17573339", "url": "https://glygen.org/publication/PubMed/17573339" }, { "database": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" }, { "database": "PubMed", "id": "12042299", "url": "https://glygen.org/publication/PubMed/12042299" } ] }, { "annotation": "Structural basis for recruitment of CBP/p300 by hypoxia-inducible factor-1 alpha", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "11959990", "url": "https://glygen.org/publication/PubMed/11959990" } ] }, { "annotation": "TMEM161B-AS1 suppresses proliferation, invasion and glycolysis by targeting miR-23a-3p/HIF1AN signal axis in oesophageal squamous cell carcinoma. Erratum:[J Cell Mol Med. 2023 Feb;27(4):591-592. PMID: 36790069]", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "34046994", "url": "https://glygen.org/publication/PubMed/34046994" } ] }, { "annotation": "The Asparagine Hydroxylase FIH: A Unique Oxygen Sensor. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "35166119", "url": "https://glygen.org/publication/PubMed/35166119" } ] }, { "annotation": "Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" }, { "database": "PubMed", "id": "36683111", "url": "https://glygen.org/publication/PubMed/36683111" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9NWT6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NWT6" } ], "glycoeffect": [], "start_pos": 166, "end_pos": 166, "subjects_tested": "57", "subjects_positive": "1", "frequency": "1.8", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.8%).", "chr_id": "10", "chr_pos": "100540701", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N166", "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" ] } ], "mutagenesis": [ { "start_pos": 199, "end_pos": 199, "sequence_org": "H", "sequence_mut": "A", "comment": "Prevents suppression of HIFCAD activity. Strongly stimulates 2-oxoglutarate turnover. No stimulation of 2-oxoglutarate turnover; when associated with R-340.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "D", "sequence_mut": "A", "comment": "Prevents suppression of HIFCAD activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" }, { "database": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" }, { "database": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of HIF1AAsn hydroxylation activity. Slightly stimulates 2-oxoglutarate turnover.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" }, { "database": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" }, { "database": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "start_pos": 201, "end_pos": 201, "sequence_org": "D", "sequence_mut": "G", "comment": "No impact on HIF1AAsn hydroxylation activity. Loss of Asp hydroxylation ability. Strongly stimulates 2-oxoglutarate turnover. Loss of HIF1AAsn hydroxylation activity and slight stimulation of 2-oxoglutarate turnover; when associated with R-296.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" }, { "database": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" }, { "database": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "start_pos": 239, "end_pos": 239, "sequence_org": "Q", "sequence_mut": "H", "comment": "No effect on Asp hydroxylation ability.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" } ] }, { "start_pos": 296, "end_pos": 296, "sequence_org": "W", "sequence_mut": "R", "comment": "Loss of HIF1AAsn hydroxylation activity and slight stimulation of 2-oxoglutarate turnover; when associated with G-201.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "start_pos": 340, "end_pos": 340, "sequence_org": "L", "sequence_mut": "R", "comment": "Impairs dimer formation, leading to loss of HIF1AAsn hydroxylation activity. No stimulation of 2-oxoglutarate turnover; when associated with A-201.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "15239670", "url": "https://glygen.org/publication/PubMed/15239670" }, { "database": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "start_pos": 344, "end_pos": 344, "sequence_org": "I", "sequence_mut": "R", "comment": "No effect on dimer formation and HIF1AAsn hydroxylation activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "PubMed", "id": "15239670", "url": "https://glygen.org/publication/PubMed/15239670" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "73.2", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "78.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NWT6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWT6" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9NWT6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWT6" } ], "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 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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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "common_name": "Human" } ], "gene": [ { "name": "HIF1AN", "url": "https://www.uniprot.org/uniprot/Q9NWT6", "locus": { "chromosome": "10", "start_pos": 100559998, "end_pos": 100529072, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166135", "url": "https://www.ensembl.org/id/ENSG00000166135" } ] } } ], "crossref": [ { "id": "ENSG00000166135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166135", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9NWT6", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NWT6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "1.14.11.16", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.11.16&UniProtAcc=Q9NWT6", "database": 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"http://pfam.xfam.org/family/PF13621", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9NWT6", "url": "https://pharos.nih.gov/targets/Q9NWT6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9NWT6", "url": "http://purl.obolibrary.org/obo/PR_Q9NWT6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "54264", "url": "https://www.rhea-db.org/rhea/54264", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "54268", "url": "https://www.rhea-db.org/rhea/54268", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "54272", "url": "https://www.rhea-db.org/rhea/54272", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "54280", "url": "https://www.rhea-db.org/rhea/54280", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E9PL41", "url": "https://www.uniprot.org/uniprot/E9PL41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PL41-1", "url": "https://www.uniprot.org/uniprot/E9PL41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNR8", "url": "https://www.uniprot.org/uniprot/E9PNR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNR8-1", "url": "https://www.uniprot.org/uniprot/E9PNR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWT6-1", "url": "https://www.uniprot.org/uniprot/Q9NWT6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAATAAEAVASGSGEPREEAGALGPAWDESQLRSYSFPTRPIPRLSQSDPRAEELIENEEPVVLTDTNLVYPALKWDLEYLQENIGNGDFSVYSASTHKFLYYDEKKMANFQNFKPRSNREEMKFHEFVEKLQDIQQRGGEERLYLQQTLNDTVGRKIVMDFLGFNWNWINKQQGKRGWGQLTSNLLLIGMEGNVTPAHYDEQQNFFAQIKGYKRCILFPPDQFECLYPYPVHHPCDRQSQVDFDNPDYERFPNFQNVVGYETVVGPGDVLYIPMYWWHHIESLLNGGITITVNFWYKGAPTPKRIEYPLKAHQKVAIMRNIEKMLGEALGNPQEVGPLLNTMIKGRYN", "length": 349, "header": "sp|Q9NWT6-1|HIF1N_HUMAN Isoform 1 of Hypoxia-inducible factor 1-alpha inhibitor OS=Homo sapiens OX=9606 GN=HIF1AN PE=1 SV=2 CANONICAL=Q9NWT6-1" }, "isoforms": [ { "isoform_ac": "E9PL41-1", "url": "", "sequence": { "sequence": "MANFQNFKPRSNREEMKFHEFVEKLQDIQQRGGEERLYLQQTLNDTVGRKIVMDFLGFNWNWINKQQGKRGWGQLTSNLLLIGMEGNVTPAHYDEQQNFFAQIKGYKRCILFPPDQFECLYPYPVHHPCDRQSQVDFDNPDYERFPNFQNVVGYETVVGPGDVLYIPMYWWHHIESLLNGGITITVNFWYK", "length": 191, "header": "tr|E9PL41-1|E9PL41_HUMAN Computationally mapped isoform of Hypoxia inducible factor 1 subunit alpha inhibitor OS=Homo sapiens OX=9606 GN=HIF1AN PE=1 SV=2 CANONICAL=Q9NWT6-1" }, "locus": { "chromosome": "10", "start_pos": 100546581, "end_pos": 100536555, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533589.6", "url": "https://www.ensembl.org/id/ENST00000533589.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000433360.2", "url": "https://www.ensembl.org/id/ENSP00000433360.2" } ] } }, { "isoform_ac": "E9PNR8-1", "url": "", "sequence": { "sequence": "MAATAAEAVASGSGEPREEAGALGPAWDESQSLWC", "length": 35, "header": "tr|E9PNR8-1|HIF1N_HUMAN Computationally mapped isoform of Hypoxia-inducible factor 1-alpha inhibitor OS=Homo sapiens OX=9606 GN=HIF1AN PE=1 SV=1 CANONICAL=Q9NWT6-1" }, "locus": { "chromosome": "10", "start_pos": 100536423, "end_pos": 100535959, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526476.5", "url": "https://www.ensembl.org/id/ENST00000526476.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432791.1", "url": "https://www.ensembl.org/id/ENSP00000432791.1" } ] } }, { "isoform_ac": "Q9NWT6-1", "url": "", "sequence": { "sequence": "MAATAAEAVASGSGEPREEAGALGPAWDESQLRSYSFPTRPIPRLSQSDPRAEELIENEEPVVLTDTNLVYPALKWDLEYLQENIGNGDFSVYSASTHKFLYYDEKKMANFQNFKPRSNREEMKFHEFVEKLQDIQQRGGEERLYLQQTLNDTVGRKIVMDFLGFNWNWINKQQGKRGWGQLTSNLLLIGMEGNVTPAHYDEQQNFFAQIKGYKRCILFPPDQFECLYPYPVHHPCDRQSQVDFDNPDYERFPNFQNVVGYETVVGPGDVLYIPMYWWHHIESLLNGGITITVNFWYKGAPTPKRIEYPLKAHQKVAIMRNIEKMLGEALGNPQEVGPLLNTMIKGRYN", "length": 349, "header": "sp|Q9NWT6-1|HIF1N_HUMAN Isoform 1 of Hypoxia-inducible factor 1-alpha inhibitor OS=Homo sapiens OX=9606 GN=HIF1AN PE=1 SV=2 CANONICAL=Q9NWT6-1" }, "locus": { "chromosome": "10", "start_pos": 100548134, "end_pos": 100535959, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299163.7", "url": "https://www.ensembl.org/id/ENST00000299163.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000299163.4", "url": "https://www.ensembl.org/id/ENSP00000299163.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.", "journal": "Genes Dev.", "date": "2001", "authors": "Mahon PC, Hirota K, Semenza GL", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "11641274", "url": "https://glygen.org/publication/PubMed/11641274" } ] }, { "title": "Asparagine hydroxylation of the HIF transactivation domain a hypoxic switch.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Lando D, Peet DJ, Whelan DA, Gorman JJ, Whitelaw ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" } ], "reference": [ { "type": "PubMed", "id": "11823643", "url": "https://glygen.org/publication/PubMed/11823643" } ] }, { "title": "Structural basis for recruitment of CBP/p300 by hypoxia-inducible factor-1 alpha.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Freedman SJ, Sun ZY, Poy F, Kung AL, Livingston DM, Wagner G, Eck MJ", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "11959990", "url": "https://glygen.org/publication/PubMed/11959990" } ] }, { "title": "Hypoxia-inducible factor (HIF) asparagine hydroxylase is identical to factor inhibiting HIF (FIH) and is related to the cupin structural family.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Hewitson KS, McNeill LA, Riordan MV, Tian YM, Bullock AN, Welford RW, Elkins JM, Oldham NJ, Bhattacharya S, Gleadle JM, Ratcliffe PJ, Pugh CW, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "Reactome", "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" } ], "reference": [ { "type": "PubMed", "id": "12042299", "url": "https://glygen.org/publication/PubMed/12042299" } ] }, { "title": "FIH-1 is an asparaginyl hydroxylase enzyme that regulates the transcriptional activity of hypoxia-inducible factor.", "journal": "Genes Dev.", "date": "2002", "authors": "Lando D, Peet DJ, Gorman JJ, Whelan DA, Whitelaw ML, Bruick RK", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "Reactome", "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" }, { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "12080085", "url": "https://glygen.org/publication/PubMed/12080085" } ] }, { "title": "Structure of factor-inhibiting hypoxia-inducible factor 1: an asparaginyl hydroxylase involved in the hypoxic response pathway.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Dann CE 3rd, Bruick RK, Deisenhofer J", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "12432100", "url": "https://glygen.org/publication/PubMed/12432100" } ] }, { "title": "Structure of factor-inhibiting hypoxia-inducible factor (HIF) reveals mechanism of oxidative modification of HIF-1 alpha.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Elkins JM, Hewitson KS, McNeill LA, Seibel JF, Schlemminger I, Pugh CW, Ratcliffe PJ, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "12446723", "url": "https://glygen.org/publication/PubMed/12446723" } ] }, { "title": "Structure of human FIH-1 reveals a unique active site pocket and interaction sites for HIF-1 and von Hippel-Lindau.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Kim S.J., Lee C., Lee S.M., Jeong D.G., Ryu S.E.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "12482756", "url": "https://glygen.org/publication/PubMed/12482756" } ] }, { "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-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" } ], "reference": [ { "type": "PubMed", "id": "12615973", "url": "https://glygen.org/publication/PubMed/12615973" } ] }, { "title": "Catalytic properties of the asparaginyl hydroxylase (FIH) in the oxygen sensing pathway are distinct from those of its prolyl 4-hydroxylases.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Koivunen P, Hirsila M, Gunzler V, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "Reactome", "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" } ], "reference": [ { "type": "PubMed", "id": "14701857", "url": "https://glygen.org/publication/PubMed/14701857" } ] }, { "title": "Substrate requirements of the oxygen-sensing asparaginyl hydroxylase factor-inhibiting hypoxia-inducible factor.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Booker G.W., Peet D.J., Whitelaw M.L., Stojkoski C., Kewley R.J., Linke S.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "14734545", "url": "https://glygen.org/publication/PubMed/14734545" } ] }, { "title": "Disruption of dimerization and substrate phosphorylation inhibit factor inhibiting hypoxia-inducible factor (FIH) activity.", "journal": "Biochem. J.", "date": "2004", "authors": "Lancaster DE, McNeill LA, McDonough MA, Aplin RT, Hewitson KS, Pugh CW, Ratcliffe PJ, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" }, { "database": "Reactome", "id": "R-HSA-1234174", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234174" } ], "reference": [ { "type": "PubMed", "id": "15239670", "url": "https://glygen.org/publication/PubMed/15239670" } ] }, { "title": "Selective inhibition of factor inhibiting hypoxia-inducible factor.", "journal": "J. Am. Chem. Soc.", "date": "2005", "authors": "McDonough MA, McNeill LA, Tilliet M, Papamicael CA, Chen QY, Banerji B, Hewitson KS, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "15913349", "url": "https://glygen.org/publication/PubMed/15913349" } ] }, { "title": "Posttranslational hydroxylation of ankyrin repeats in IkappaB proteins by the hypoxia-inducible factor (HIF) asparaginyl hydroxylase, factor inhibiting HIF (FIH).", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Cockman ME, Lancaster DE, Stolze IP, Hewitson KS, McDonough MA, Coleman ML, Coles CH, Yu X, Hay RT, Ley SC, Pugh CW, Oldham NJ, Masson N, Schofield CJ, Ratcliffe PJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "17003112", "url": "https://glygen.org/publication/PubMed/17003112" } ] }, { "title": "Structural and mechanistic studies on the inhibition of the hypoxia-inducible transcription factor hydroxylases by tricarboxylic acid cycle intermediates.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Hewitson KS, Lienard BM, McDonough MA, Clifton IJ, Butler D, Soares AS, Oldham NJ, McNeill LA, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "17135241", "url": "https://glygen.org/publication/PubMed/17135241" } ] }, { "title": "Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Coleman ML, McDonough MA, Hewitson KS, Coles C, Mecinovic J, Edelmann M, Cook KM, Cockman ME, Lancaster DE, Kessler BM, Oldham NJ, Ratcliffe PJ, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "17573339", "url": "https://glygen.org/publication/PubMed/17573339" } ] }, { "title": "Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2008", "authors": "Zheng X, Linke S, Dias JM, Zheng X, Gradin K, Wallis TP, Hamilton BR, Gustafsson M, Ruas JL, Wilkins S, Bilton RL, Brismar K, Whitelaw ML, Pereira T, Gorman JJ, Ericson J, Peet DJ, Lendahl U, Poellinger L", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "18299578", "url": "https://glygen.org/publication/PubMed/18299578" } ] }, { "title": "Evidence that two enzyme-derived histidine ligands are sufficient for iron binding and catalysis by factor inhibiting HIF (FIH).", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Hewitson KS, Holmes SL, Ehrismann D, Hardy AP, Chowdhury R, Schofield CJ, McDonough MA", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "18611856", "url": "https://glygen.org/publication/PubMed/18611856" } ] }, { "title": "MYPT1, the targeting subunit of smooth-muscle myosin phosphatase, is a substrate for the asparaginyl hydroxylase factor inhibiting hypoxia-inducible factor (FIH).", "journal": "Biochem. J.", "date": "2009", "authors": "Webb JD, Muranyi A, Pugh CW, Ratcliffe PJ, Coleman ML", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "19245366", "url": "https://glygen.org/publication/PubMed/19245366" } ] }, { "title": "Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Sakamoto T, Seiki M", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "19726677", "url": "https://glygen.org/publication/PubMed/19726677" } ] }, { "title": "Crystal structures of human FIH-1 in complex with quinol family inhibitors.", "journal": "Mol. Cells", "date": "2010", "authors": "Moon H, Han S, Park H, Choe J", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "20396966", "url": "https://glygen.org/publication/PubMed/20396966" } ] }, { "title": "Structural basis for binding of cyclic 2-oxoglutarate analogues to factor-inhibiting hypoxia-inducible factor.", "journal": "Bioorg. Med. Chem. Lett.", "date": "2010", "authors": "Conejo-Garcia A, McDonough MA, Loenarz C, McNeill LA, Hewitson KS, Ge W, Lienard BM, Schofield CJ, Clifton IJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "20822901", "url": "https://glygen.org/publication/PubMed/20822901" } ] }, { "title": "Asparagine and aspartate hydroxylation of the cytoskeletal ankyrin family is catalyzed by factor-inhibiting hypoxia-inducible factor.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Yang M, Ge W, Chowdhury R, Claridge TD, Kramer HB, Schmierer B, McDonough MA, Gong L, Kessler BM, Ratcliffe PJ, Coleman ML, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "21177872", "url": "https://glygen.org/publication/PubMed/21177872" } ] }, { "title": "Factor-inhibiting hypoxia-inducible factor (FIH) catalyses the post-translational hydroxylation of histidinyl residues within ankyrin repeat domains.", "journal": "FEBS J.", "date": "2011", "authors": "Yang M, Chowdhury R, Ge W, Hamed RB, McDonough MA, Claridge TD, Kessler BM, Cockman ME, Ratcliffe PJ, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "21251231", "url": "https://glygen.org/publication/PubMed/21251231" } ] }, { "title": "The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases.", "journal": "EMBO Rep.", "date": "2011", "authors": "Chowdhury R, Yeoh KK, Tian YM, Hillringhaus L, Bagg EA, Rose NR, Leung IK, Li XS, Woon EC, Yang M, McDonough MA, King ON, Clifton IJ, Klose RJ, Claridge TD, Ratcliffe PJ, Schofield CJ, Kawamura A", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "21460794", "url": "https://glygen.org/publication/PubMed/21460794" } ] }, { "title": "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.", "journal": "Mol. Cell. Proteomics", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "E9PNR8", "url": "https://www.uniprot.org/uniprot/E9PNR8" }, { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.", "journal": "Mol. Cell. Biol.", "date": "2012", "authors": "Harper J.W., Sowa M.E., Howley P.M., Arndt V., Galligan J.T., Martinez-Noel G., Overton T.M.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "22645313", "url": "https://glygen.org/publication/PubMed/22645313" } ] }, { "title": "NECAB3 promotes activation of hypoxia-inducible factor-1 during normoxia and enhances tumourigenicity of cancer cells.", "journal": "Sci. Rep.", "date": "2016", "authors": "Nakaoka HJ, Hara T, Yoshino S, Kanamori A, Matsui Y, Shimamura T, Sato H, Murakami Y, Seiki M, Sakamoto T", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "reference": [ { "type": "PubMed", "id": "26948053", "url": "https://glygen.org/publication/PubMed/26948053" } ] }, { "title": "High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.", "journal": "Human molecular genetics", "date": "2021", "authors": "Sharma K, Mishra A, Singh HN, Parashar D, Alam P, Thinlas T, Mohammad G, Kukreti R, Syed MA, Pasha MAQ", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "34007987", "url": "https://glygen.org/publication/PubMed/34007987" } ] }, { "title": "TMEM161B-AS1 suppresses proliferation, invasion and glycolysis by targeting miR-23a-3p/HIF1AN signal axis in oesophageal squamous cell carcinoma.", "journal": "Journal of cellular and molecular medicine", "date": "2021", "authors": "Shi Z, Li G, Li Z, Liu J, Tang Y", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "34046994", "url": "https://glygen.org/publication/PubMed/34046994" } ] }, { "title": "The Asparagine Hydroxylase FIH: A Unique Oxygen Sensor.", "journal": "Antioxidants & redox signaling", "date": "2022-11", "authors": "Volkova Yulia L, Pickel Christina, Jucht Agnieszka E, Wenger Roland H, Scholz Carsten C", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "35166119", "url": "https://glygen.org/publication/PubMed/35166119" } ] }, { "title": "Factor inhibiting HIF can catalyze two asparaginyl hydroxylations in VNVN motifs of ankyrin fold proteins.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Leissing TM, Hardy AP, Chan H, Wang Y, Tumber A, Chowdhury R, Feng T, Coleman ML, Cockman ME, Kramer HB, Berridge G, Fischer R, Kessler BM, Ratcliffe PJ, Lu X, Schofield CJ", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "35537551", "url": "https://glygen.org/publication/PubMed/35537551" } ] }, { "title": "Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.", "journal": "Biological research", "date": "2023", "authors": "Li N, Zhou Q, Yi Z, Zhang H, Zhou D", "evidence": [ { "database": "RefSeq", "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372" } ], "reference": [ { "type": "PubMed", "id": "36683111", "url": "https://glygen.org/publication/PubMed/36683111" } ] 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"https://www.ebi.ac.uk/QuickGO/term/GO:0036140", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" }, { "name": "ankyrin repeat binding", "id": "GO:0071532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071532", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" }, { "name": "peptidyl-aspartic acid 3-dioxygenase activity", "id": "GO:0062101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062101", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q9NWT6", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 151, "end_pos": 153, "annotation": "n_glycosylation_sequon" }, { "start_pos": 194, "end_pos": 196, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "54264", "name": "", "equation": "2-oxoglutarate + L-histidyl-[ankyrin-repeat domain protein] + O2 = (3S)-3-hydroxy-L-histidyl-[ankyrin-repeat domain protein] + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NWT6-1", "Q8BLR9-1" ], "evidence": [ { "id": "54264", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54264" } ] }, { "id": "54268", "name": "", "equation": "2-oxoglutarate + L-asparaginyl-[hypoxia-inducible factor alpha subunit] + O2 = (3S)-3-hydroxy-L-asparaginyl-[hypoxia-inducible factor alpha subunit] + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NWT6-1", "Q8BLR9-1" ], "evidence": [ { "id": "54268", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54268" } ] }, { "id": "54272", "name": "", "equation": "2-oxoglutarate + L-asparaginyl-[ankyrin-repeat domain protein] + O2 = (3S)-3-hydroxy-L-asparaginyl-[ankyrin-repeat domain protein] + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NWT6-1", "Q8BLR9-1" ], "evidence": [ { "id": "54272", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54272" } ] }, { "id": "54280", "name": "", "equation": "2-oxoglutarate + L-aspartyl-[ankyrin-repeat domain protein] + O2 = (3S)-3-hydroxy-L-aspartyl-[ankyrin-repeat domain protein] + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NWT6-1", "Q8BLR9-1" ], "evidence": [ { "id": "54280", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54280" } ] }, { "id": "R-HSA-1234164", "name": "Cytosolic HIF1AN (FIH1) hydroxylates asparagine residues of Hypoxia-inducible Factor Alpha (HIF1A,HIF2A)", "equation": "", "summary": "HIF1AN (FIH, FIH-1) forms a homodimer that hydroxylates an asparagine residue on HIF1A and HIF2A (Hewitson et al. 2002, Lando et al. 2002, Metzen et al. 2003, Koivunen et al. 2004, Lancaster et al. 2004). The hydroxylation of the asparagine interferes with the interaction between HIF1A/HIF2A and p300, a histone acetylase, and therefore inhibits the ability of HIF1A/2A to activate transcription of target genes (Lando et al. 2002). Because molecular oxygen is a substrate of the reaction, hypoxia is a negative regulator of this reaction and thereby increases transcriptional activation of target genes by HIF1A/2A.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NWT6-1" ], "evidence": [ { "id": "R-HSA-1234164", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1234164" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q8BLR9", "gene_name": "Hif1an", "activity": [ { "ec_number": "1.14.11.30", "activity": "2-oxoglutarate + L-asparaginyl-[hypoxia-inducible factor alpha subunit] + O2 = (3S)-3-hydroxy-L-asparaginyl-[hypoxia-inducible factor alpha subunit] + CO2 + succinate.", "evidence": [ { "id": "Q8BLR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BLR9" } ] }, { "ec_number": "1.14.11.n4", "activity": "2-oxoglutarate + L-asparaginyl-[ankyrin-repeat domain protein] + O2 = (3S)-3-hydroxy-L-asparaginyl-[ankyrin-repeat domain protein] + CO2 + succinate.", "evidence": [ { "id": "Q8BLR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BLR9" } ] }, { "ec_number": "1.14.11.n4", "activity": "", "evidence": [ { "id": "Q8BLR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BLR9" } ] }, { "ec_number": "1.14.11.30", "activity": "", "evidence": [ { "id": "Q8BLR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BLR9" } ] } ] }, { "uniprot_ac": "Q9NWT6", "gene_name": "HIF1AN", "activity": [ { "ec_number": "1.14.11.30", "activity": "2-oxoglutarate + L-asparaginyl-[hypoxia-inducible factor alpha subunit] + O2 = (3S)-3-hydroxy-L-asparaginyl-[hypoxia-inducible factor alpha subunit] + CO2 + succinate.", "evidence": [ { "id": "Q9NWT6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NWT6" } ] }, { "ec_number": "1.14.11.n4", "activity": "2-oxoglutarate + L-asparaginyl-[ankyrin-repeat domain 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"field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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 }, { 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