{ "uniprot_canonical_ac": "O43593-1", "uniprot_ac": "O43593", "uniprot_id": "HAIR_HUMAN", "mass": { "chemical_mass": 127495.0, "monoisotopic_mass": 127495.0 }, "refseq": { "ac": "NP_005135", "name": "lysine-specific demethylase hairless isoform a", "summary": "This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, "gene_names": [ { "name": "HR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43593", "id": "O43593" }, { "name": "ALUNC; AU; HSA277165; HYPT4; MUHH; MUHH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "id": "NP_005135" }, { "name": "HR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "id": "NP_005135" } ], "protein_names": [ { "name": "Lysine-specific demethylase hairless", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43593" }, { "name": "1.14.11.65", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43593" }, { "name": "[histone H3]-dimethyl-L-lysine(9) demethylase hairless", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43593" }, { "name": "lysine-specific demethylase hairless isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "id": "NP_005135" }, { "name": "protein hairless; hairless homolog; hair growth associated; lysine-specific demethylase hairless; [histone H3]-dimethyl-L-lysine(9) demethylase hairless", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "id": "NP_005135" } ], "function": [ { "annotation": "A pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). Erratum:[Nat Genet. 2009 Jun;41(6):762]", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, { "database": "PubMed", "id": "19122663", "url": "https://glygen.org/publication/PubMed/19122663" } ] }, { "annotation": "Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593#function" }, { "database": "PubMed", "id": "24334705", "url": "https://glygen.org/publication/PubMed/24334705" } ] }, { "annotation": "Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study.", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, { "database": "PubMed", "id": "32796265", "url": "https://glygen.org/publication/PubMed/32796265" } ] }, { "annotation": "Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT.", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, { "database": "PubMed", "id": "30809827", "url": "https://glygen.org/publication/PubMed/30809827" } ] }, { "annotation": "The first time that a mutation in U2HR has been identified in families from the Middle East", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, { "database": "PubMed", "id": "20055871", "url": "https://glygen.org/publication/PubMed/20055871" } ] }, { "annotation": "These results suggest that transcriptional repression or mutation of HR may contribute to glioblastoma pathogenesis, which uncovers a role of HR in brain and suggests that modulating HR activity in glioblastoma may be a therapeutic strategy.", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" }, { "database": "PubMed", "id": "30191601", "url": "https://glygen.org/publication/PubMed/30191601" } ] }, { "annotation": "This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ] } ], "disease": [ { "disease_id": "DOID:0050634", "recommended_name": { "id": "DOID:0050634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050634", "name": "alopecia universalis", "description": "An alopecia characterized by the complete loss of hair on the scalp and body." }, "synonyms": [ { "id": "DOID:0050634", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050634", "name": "ALOPECIA UNIVERSALIS CONGENITA", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalised", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalized", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "ALUNC", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "AU", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia areata universalis", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis", "description": "" }, { "id": "MIM:203655", "resource": "MIM", "url": "https://www.omim.org/entry/203655", "name": "Alopecia universalis congenita", "description": "Alopecia universalis congenita" } ], "evidence": [ { "id": "203655", "database": "MIM", "url": "https://www.omim.org/entry/203655" } ] }, { "disease_id": "DOID:0060689", "recommended_name": { "id": "DOID:0060689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060689", "name": "atrichia with papular lesions", "description": "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3." }, "synonyms": [ { "id": "DOID:0060689", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060689", "name": "papular atrichia", "description": "" }, { "id": "MONDO:0008847", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008847", "name": "atrichia with papular lesions", "description": "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." }, { "id": "MONDO:0008847", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008847", "name": "atrichia with papular lesions", "description": "" }, { "id": "MONDO:0008847", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008847", "name": "papular atrichia", "description": "" }, { "id": "MONDO:0008847", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008847", "name": "APL", "description": "" }, { "id": "MIM:209500", "resource": "MIM", "url": "https://www.omim.org/entry/209500", "name": "Atrichia with papular lesions", "description": "Atrichia with papular lesions" } ], "evidence": [ { "id": "209500", "database": "MIM", "url": "https://www.omim.org/entry/209500" } ] }, { "disease_id": "DOID:0110701", "recommended_name": { "id": "DOID:0110701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110701", "name": "hypotrichosis 4", "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3." }, "synonyms": [ { "id": "DOID:0110701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110701", "name": "Hypotrichosis, Marie Unna Type, 1", "description": "" }, { "id": "DOID:0110701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110701", "name": "Hypt4", "description": "" }, { "id": "DOID:0110701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110701", "name": "Marie Unna Hereditary Hypotrichosis 1", "description": "" }, { "id": "DOID:0110701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110701", "name": "Muhh1", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "hypotrichosis 4", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "HYPT4", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "MUHH1", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "Marie Unna hereditary hypotrichosis 1", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "hypotrichosis 4", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "hypotrichosis type 4", "description": "" }, { "id": "MONDO:0100522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100522", "name": "hypotrichosis, Marie Unna type, 1", "description": "" }, { "id": "MIM:146550", "resource": "MIM", "url": "https://www.omim.org/entry/146550", "name": "Hypotrichosis 4", "description": "Hypotrichosis 4" } ], "evidence": [ { "id": "146550", "database": "MIM", "url": "https://www.omim.org/entry/146550" } ] }, { "disease_id": "DOID:987", "recommended_name": { "id": "DOID:987", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body." }, "synonyms": [ { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis congenita", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalised", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "atrichia, generalized", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "ALUNC", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "AU", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia areata universalis", "description": "" }, { "id": "MONDO:0008757", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008757", "name": "alopecia universalis", "description": "" }, { "id": "MIM:203655", "resource": "MIM", "url": "https://www.omim.org/entry/203655", "name": "Alopecia universalis congenita", "description": "Alopecia universalis congenita" } ], "evidence": [ { "id": "203655", "database": "MIM", "url": "https://www.omim.org/entry/203655" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 1056, "end_pos": 1056, "sequence_org": "V", "sequence_mut": "M", "comment": "Markedly diminishes histone demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" }, { "database": "PubMed", "id": "24334705", "url": "https://glygen.org/publication/PubMed/24334705" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "58.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43593" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43593" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43593", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43593" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "common_name": "Human" } ], "gene": [ { "name": "HR", "url": "https://www.uniprot.org/uniprot/O43593", "locus": { "chromosome": "8", "start_pos": 22114419, "end_pos": 22133384, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000168453", "url": "https://www.ensembl.org/id/ENSG00000168453" } ] } } ], "crossref": [ { "id": "ENSG00000168453", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168453", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "1.14.11.65", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=1.14.11.65&UniProtAcc=O43593", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "HR", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HR", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "55806", "url": "https://www.ncbi.nlm.nih.gov/gene/55806", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "5172", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5172", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43593", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43593*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003347", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003347", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045109", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045109", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:55806", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55806", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "146550", "url": "http://www.omim.org/entry/146550", "database": "MIM", "categories": [ "Other" ] }, { "id": "203655", "url": "http://www.omim.org/entry/203655", "database": "MIM", "categories": [ "Other" ] }, { "id": "209500", "url": "http://www.omim.org/entry/209500", "database": "MIM", "categories": [ "Other" ] }, { "id": "602302", "url": "http://www.omim.org/entry/602302", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43593", "url": "https://www.nextprot.org/entry/NX_O43593", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "VCPPHYG", "url": "https://omabrowser.org/oma/group/VCPPHYG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3473445at2759", "url": "http://www.orthodb.org/?query=3473445at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12549", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12549", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12549:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12549:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02373", "url": "http://pfam.xfam.org/family/PF02373", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43593", "url": "https://pharos.nih.gov/targets/O43593", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43593", "url": "http://purl.obolibrary.org/obo/PR_O43593", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "60188", "url": "https://www.rhea-db.org/rhea/60188", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E5RK80", "url": "https://www.uniprot.org/uniprot/E5RK80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK80-1", "url": "https://www.uniprot.org/uniprot/E5RK80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43593-1", "url": "https://www.uniprot.org/uniprot/O43593-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43593-2", "url": "https://www.uniprot.org/uniprot/O43593-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSWLPPGFPQGPKDMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCGPLMPEHSGGHLKSDPVAFRPWHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWPLTPHPWVYSGGQPKVPSAFSLGSKGFYYKDPSIPRLAKEPLAAAEPGLFGLNSGGHLQRAGEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWPACPPGLVHTLGNVWAGPGDGNLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASEPSEEVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQGAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDPGLQDIPCLALPAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLSTGLAKHLLSGLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCCSRCHHGLFNTHWRCPRCSHRLCVACGRVAGTGRAREKAGFQEQSAEECTQEAGHAACSLMLTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWAPGDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLCLGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLPPPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQALSPLGPPQPSSLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLPEYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVCPAGAGALEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTVSVTQHFLSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK", "length": 1189, "header": "sp|O43593-1|HAIR_HUMAN Isoform 1 of Lysine-specific demethylase hairless OS=Homo sapiens OX=9606 GN=HR PE=1 SV=5 CANONICAL=O43593-1" }, "isoforms": [ { "isoform_ac": "E5RK80-1", "url": "", "sequence": { "sequence": "XTQEAGHAACSLMLTQFVSSQEGINTENAPNSTTFLQWRHPQDQEHQRGDPRFR", "length": 54, "header": "tr|E5RK80-1|E5RK80_HUMAN Computationally mapped isoform of HR lysine demethylase and nuclear receptor corepressor OS=Homo sapiens OX=9606 GN=HR PE=4 SV=2 CANONICAL=O43593-1" }, "locus": { "chromosome": "8", "start_pos": 22122851, "end_pos": 22121211, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517699.2", "url": "https://www.ensembl.org/id/ENST00000517699.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000430413.2", "url": "https://www.ensembl.org/id/ENSP00000430413.2" } ] } }, { "isoform_ac": "O43593-1", "url": "", "sequence": { "sequence": "MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSWLPPGFPQGPKDMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCGPLMPEHSGGHLKSDPVAFRPWHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWPLTPHPWVYSGGQPKVPSAFSLGSKGFYYKDPSIPRLAKEPLAAAEPGLFGLNSGGHLQRAGEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWPACPPGLVHTLGNVWAGPGDGNLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASEPSEEVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQGAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDPGLQDIPCLALPAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLSTGLAKHLLSGLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCCSRCHHGLFNTHWRCPRCSHRLCVACGRVAGTGRAREKAGFQEQSAEECTQEAGHAACSLMLTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWAPGDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLCLGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLPPPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQALSPLGPPQPSSLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLPEYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVCPAGAGALEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTVSVTQHFLSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK", "length": 1189, "header": "sp|O43593-1|HAIR_HUMAN Isoform 1 of Lysine-specific demethylase hairless OS=Homo sapiens OX=9606 GN=HR PE=1 SV=5 CANONICAL=O43593-1" }, "locus": { "chromosome": "8", "start_pos": 22129170, "end_pos": 22115703, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381418.9", "url": "https://www.ensembl.org/id/ENST00000381418.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000370826.4", "url": "https://www.ensembl.org/id/ENSP00000370826.4" } ] } }, { "isoform_ac": "O43593-2", "url": "", "sequence": { "sequence": "MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSWLPPGFPQGPKDMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCGPLMPEHSGGHLKSDPVAFRPWHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWPLTPHPWVYSGGQPKVPSAFSLGSKGFYYKDPSIPRLAKEPLAAAEPGLFGLNSGGHLQRAGEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWPACPPGLVHTLGNVWAGPGDGNLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASEPSEEVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQGAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDPGLQDIPCLALPAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLSTGLAKHLLSGLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCCSRCHHGLFNTHWRCPRCSHRLCVACGRVAGTGRAREKAGFQEQSAEECTQEAGHAACSLMLTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWAPGDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLCLGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLPPPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQALSPLGPPQPSSLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLPEYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVQGLVSTVSVTQHFLSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK", "length": 1134, "header": "sp|O43593-2|HAIR_HUMAN Isoform 2 of Lysine-specific demethylase hairless OS=Homo sapiens OX=9606 GN=HR PE=1 SV=5 CANONICAL=O43593-1" }, "locus": { "chromosome": "8", "start_pos": 22129170, "end_pos": 22115703, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312841.9", "url": "https://www.ensembl.org/id/ENST00000312841.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000326765.8", "url": "https://www.ensembl.org/id/ENSP00000326765.8" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.", "journal": "Genomics", "date": "1999", "authors": "Ahmad W, Zlotogorski A, Panteleyev A A, Lam H, Ahmad M, Faiyaz ul Haque M, Abdallah H M, Dragan L, Christiano A M", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "10051399", "url": "https://glygen.org/publication/PubMed/10051399" } ] }, { "title": "Variant 1859G-->A (Arg620Gln) of the 'hairless' gene: absence of association with papular atrichia or androgenic alopecia.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Hillmer A M, Kruse R, Betz R C, Schumacher J, Heyn U, Propping P, N\u00f6then M M, Cichon S", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "11410842", "url": "https://glygen.org/publication/PubMed/11410842" } ] }, { "title": "A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.", "journal": "The Journal of investigative dermatology", "date": "2002", "authors": "Klein I, Bergman R, Indelman M, Sprecher E", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "12406339", "url": "https://glygen.org/publication/PubMed/12406339" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.", "journal": "Nat. Genet.", "date": "2009", "authors": "Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nothen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" }, { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ], "reference": [ { "type": "PubMed", "id": "19122663", "url": "https://glygen.org/publication/PubMed/19122663" } ] }, { "title": "Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.", "journal": "Clinical and experimental dermatology", "date": "2009", "authors": "Duzenli S, Redler S, Muller M, Polat M, Dogruer D, Pasternack SM, Betz RC", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ], "reference": [ { "type": "PubMed", "id": "20055871", "url": "https://glygen.org/publication/PubMed/20055871" } ] }, { "title": "Hairless is a histone H3K9 demethylase.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2014", "authors": "Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "24334705", "url": "https://glygen.org/publication/PubMed/24334705" } ] }, { "title": "Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.", "journal": "Int. J. Dermatol.", "date": "2014", "authors": "Yun Seok-Kweon, Cho Yong-Gon, Song Ki Hun, Hwang Su-Ran, Kim Yoon Sung-Joo, Choi Keon-Woo, Kim Han-Uk, Park Jin", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "24961381", "url": "https://glygen.org/publication/PubMed/24961381" } ] }, { "title": "Hairless regulates p53 target genes to exert tumor suppressive functions in glioblastoma.", "journal": "Journal of cellular biochemistry", "date": "2019", "authors": "Brook L, Palade P, Maatough A, Whitfield GK, Emeterio LS, Hsieh D, Hsieh JC", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ], "reference": [ { "type": "PubMed", "id": "30191601", "url": "https://glygen.org/publication/PubMed/30191601" } ] }, { "title": "Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.", "journal": "The Journal of dermatology", "date": "2019", "authors": "Huang Y, Cai C, Ren L, Cui C, Zhang X, Liu W", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ], "reference": [ { "type": "PubMed", "id": "30809827", "url": "https://glygen.org/publication/PubMed/30809827" } ] }, { "title": "Impact of a High Coverage Vaccination Rate on Human Papillomavirus Infection Prevalence in Young Women: A Cross-sectional Study.", "journal": "Journal of lower genital tract disease", "date": "2020", "authors": "Saldanha C, Vieira-Baptista P, Costa M, Silva AR, Picao M, Sousa C", "evidence": [ { "database": "RefSeq", "id": "NP_005135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005135" } ], "reference": [ { "type": "PubMed", "id": "32796265", "url": "https://glygen.org/publication/PubMed/32796265" } ] }, { "title": "Alopecia universalis associated with a mutation in the human hairless gene.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "9445480", "url": "https://glygen.org/publication/PubMed/9445480" } ] }, { "title": "Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.", "journal": "Human molecular genetics", "date": "1998", "authors": "Cichon S, Anker M, Vogt IR, Rohleder H, Putzstuck M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nothen MM", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "9736769", "url": "https://glygen.org/publication/PubMed/9736769" } ] }, { "title": "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.", "journal": "Am. J. Hum. Genet.", "date": "1998", "authors": "Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "reference": [ { "type": "PubMed", "id": "9758627", "url": "https://glygen.org/publication/PubMed/9758627" } ] } ], "pathway": [ { "id": "hsa:55806", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55806", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P97609-1", "protein_name": "Lysine-specific demethylase hairless", "gene_name": "Hr", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MESMPSFLKDTPAWEKTAPVNGIVGQEPGTSPQDGLHHGALCLGEPVPFWRGVLSAPDSWLPPGFLQGPKDTLSVVEGEGSRNGERKANWLGSKEGLRWKEAMLAHPLAFCGPACPPRYGPLIPEHSSGHPKSDPVAFRPLHCPFLLETKILERAPFWVPTCLPPYLMSSLPPERSYDWPLAPSPWVYSGSQPKVPSAFSLGSKGFYHKDPNILRPAKEPLAASESGMLGLAPGGHLQQACDAEGPSLHQRDGETGAGRQQNLCPVFLGYPDTVPRTPWPSCPPGLVHTLGNVWAGPGSNSFGYQLGPPVTPRCPSPGPPTPPGGCCSSHLPAREGDPGPCRKCQDSPEGSSSGPGESSEERNKAGSRASPPSHHTKLKKTWLTRHSEQFECPGGCPGKGESPATGLRALKRAGSPEVQGARGPAPKRPSHTFPGTGRQGARAWQETPETSTGSKAEAQQQEEQRGPRDGRIRLRESRLEDTSCQHHLAGVTQCPSCVQAAGEVEILTSHSQKSHKLPLEEKPLEEDSCATSEEGGGSSPEASINKGLAKHLLSGLGDRLCRLLRKEREALAWAQREGQGPAMTEDSPGIPHCCSRCHHGLFNTHWRCSHCSHRLCVACGRIAGAGKNREKTGSREQRTDDCAQEAGHAACSLILTQFVSSQALAELSTVMHQVWAKFDIRGHCFCQVDARVWAPGDGGQQKEPTEKTPPAPQLSCNGDSNRTKDIKEETPDSTESPAEDRAGRSPLPCPSLCELLASTAVKLCLGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGSGLRKGLSLPLSPVRTQLSPPGALLWLQEPRPKHGFRLFQEHWRQGQPVLVSGIQKTLRLSLWGMEALGTLGGQVQTLTALGPPQPTSLDSTAFWKGFSHPEARPKLDEGSVLLLHRPLGDKDESRVENLASSLPLPEYCAHQGKLNLASYLPLGLTLHPLEPQLWAAYGVNSHRGHLGTKNLCVEVSDLISILVHAEAQLPPWYRAQKDFLSGLDGEGLWSPGSQTSTVWHVFRAQDAQRIRRFLQMVCPAGAGTLEPGAPGSCYLDSGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTISVTQHFLSPETSALSAQLCHQGASLPPDHRMLYAQMDRAVFQAVKVAVGTLQEAK", "length": 1181 }, "evidence": [ { "id": "45934042", "url": "http://www.informatics.jax.org/homology/45934042", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61645-1", "protein_name": "Lysine-specific demethylase hairless", "gene_name": "Hr", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MESMPSFLKDTPAWEKTAPVNGIVGQEPGTSPQDGLRHGALCLGEPAPFWRGVLSTPDSWLPPGFLQGPKDTLSLVEGEGPRNGERKGSWLGGKEGLRWKEAMLAHPLAFCGPACPPRYGPLIPEHSGGHPKSDPVAFRPLHCPFLLETKILERAPFWVPTCLPPYLMSSLPPERPYDWPLAPNPWVYSGSQPKVPSAFGLGSKGFYHKDPNILRPAKEPLAESGMLGLAPGGHLQQACESEGPSLHQRDGETGAGRQQNLCPVFLGYPDTVPRAPWPSCPPGLVHSLGNIWAGPGSNSLGYQLGPPATPRCPSPGPPTPPGGCCSSHLPAREGDLGPCRKCQDSPEGGSSGPGESSEERNKADSRACPPSHHTKLKKTWLTRHSEQFECPGGCSGKEESPATGLRALKRAGSPEVQGASRGPAPKRPSHPFPGTGRQGARAWQETPETIIGSKAEAEQQEEQRGPRDGRIRLQESRLVDTSCQHHLAGVTQCQSCVQAAGEVGVLTGHSQKSRRSPLEEKQLEEEDSSATSEEGGGGPGPEASLNKGLAKHLLSGLGDRLCRLLRKEREALAWAQREGQGPAMTEDSPGIPHCCSRCHHGLFNTHWRCSHCSHRLCVACGRIAGAGKNREKTGSQEQHTDDCAQEAGHAACSLILTQFVSSQALAELSTVMHQVWAKFDIRGHCFCQVDARVWAPGDGGQQKEPTEKTPPTPQPSCNGDSNRTKDIKEETPDSTESPAEDGAGRSPLPCPSLCELLASTAVKLCLGHDRIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGSGLRKGLSLPLSPVRTRLSPPGALLWLQEPRPKHGFHLFQEHWRQGQPVLVSGIQKTLRLSLWGMEALGTLGGQVQTLTALGPPQPTNLDSTAFWEGFSHPETRPKLDEGSVLLLHRTLGDKDASRVQNLASSLPLPEYCAHQGKLNLASYLPLGLTLHPLEPQLWAAYGVNSHRGHLGTKNLCVEVSDLISILVHAEAQLPPWYRAQKDFLSGLDGEGLWSPGSQTSTVWHVFRAQDAQRIRRFLQMVCPAGAGTLEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTISVTQHFLSPETSALSAQLYHQGASLPPDHRMLYAQMDRAVFQAVKAAVGALQEAK", "length": 1182 }, "evidence": [ { "id": "45934042", "url": "http://www.informatics.jax.org/homology/45934042", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "histone H3K9 demethylase activity", "id": "GO:0032454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032454", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" }, { "name": "histone H3K9me/H3K9me2 demethylase activity", "id": "GO:0140683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140683", "evidence": [ { "database": "UniProtKB", "id": "O43593", "url": "https://www.uniprot.org/uniprot/O43593" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 535, "end_pos": 537, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "60188", "name": "", "equation": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63679-1", "P97609-1", "A0A8I5ZXX2-1", "Q9Y4C1-1", "Q7LBC6-1", "O43593-1", "Q9UPP1-1", "Q6ZMT4-1", "Q3UWM4-1", "Q61645-1", "Q6PCM1-1", "Q80TJ7-1", "Q6ZPY7-1" ], "evidence": [ { "id": "60188", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60188" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I5ZXX2", "gene_name": "Kdm3b", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "A0A8I5ZXX2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZXX2" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "A0A8I5ZXX2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZXX2" } ] } ] }, { "uniprot_ac": "O43593", "gene_name": "HR", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "O43593", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43593" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "O43593", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43593" } ] } ] }, { "uniprot_ac": "P97609", "gene_name": "Hr", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "P97609", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97609" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "P97609", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97609" } ] } ] }, { "uniprot_ac": "Q3UWM4", "gene_name": "Kdm7a", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q3UWM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UWM4" } ] } ] }, { "uniprot_ac": "Q61645", "gene_name": "Hr", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q61645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61645" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q61645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q61645" } ] } ] }, { "uniprot_ac": "Q63679", "gene_name": "Kdm3a", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q63679", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63679" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q63679", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63679" } ] } ] }, { "uniprot_ac": "Q6PCM1", "gene_name": "Kdm3a", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6PCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PCM1" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q6PCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PCM1" } ] } ] }, { "uniprot_ac": "Q6ZMT4", "gene_name": "KDM7A", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6ZMT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZMT4" } ] } ] }, { "uniprot_ac": "Q6ZPY7", "gene_name": "Kdm3b", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6ZPY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZPY7" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q6ZPY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZPY7" } ] } ] }, { "uniprot_ac": "Q7LBC6", "gene_name": "KDM3B", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q7LBC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7LBC6" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q7LBC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7LBC6" } ] } ] }, { "uniprot_ac": "Q80TJ7", "gene_name": "Phf8", "activity": [ { "ec_number": "1.14.11.27", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q80TJ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TJ7" } ] }, { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q80TJ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TJ7" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q80TJ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TJ7" } ] }, { "ec_number": "1.14.11.27", "activity": "", "evidence": [ { "id": "Q80TJ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TJ7" } ] } ] }, { "uniprot_ac": "Q9UPP1", "gene_name": "PHF8", "activity": [ { "ec_number": "1.14.11.27", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] }, { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] }, { "ec_number": "1.14.11.27", "activity": "", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": 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