{ "uniprot_canonical_ac": "P09067-1", "uniprot_ac": "P09067", "uniprot_id": "HXB5_HUMAN", "mass": { "chemical_mass": 29434.0, "monoisotopic_mass": 29434.0 }, "refseq": { "ac": "NP_002138", "name": "homeobox protein Hox-B5", "summary": "This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, "gene_names": [ { "name": "HOXB5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09067", "id": "P09067" }, { "name": "HHO.C10; HOX2; Hox2.1; HOX2A; HU-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "id": "NP_002138" }, { "name": "HOX2A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09067", "id": "P09067" }, { "name": "HOXB5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "id": "NP_002138" } ], "protein_names": [ { "name": "Homeobox protein Hox-B5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09067" }, { "name": "Homeobox protein HHO.C10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09067" }, { "name": "Homeobox protein Hox-2A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09067" }, { "name": "Homeobox protein Hu-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09067" }, { "name": "homeo box B5; homeo box 2A; homeobox protein Hu-1; homeobox protein Hox-2A; homeobox protein HHO.C10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "id": "NP_002138" }, { "name": "homeobox protein Hox-B5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "id": "NP_002138" } ], "function": [ { "annotation": "CXCL12-mediated HOXB5 overexpression facilitates Colorectal Cancer metastasis through transactivating CXCR4 and ITGB3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, { "database": "PubMed", "id": "33456563", "url": "https://glygen.org/publication/PubMed/33456563" } ] }, { "annotation": "Circ_0020123 enhances the cisplatin resistance in non-small cell lung cancer cells partly by sponging miR-140-3p to regulate homeobox B5 (HOXB5).", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, { "database": "PubMed", "id": "35170372", "url": "https://glygen.org/publication/PubMed/35170372" } ] }, { "annotation": "HOXB5 Confers Tamoxifen Resistance in Breast Cancer Cells and Promotes Tumor Aggression and Progression.", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, { "database": "PubMed", "id": "34230136", "url": "https://glygen.org/publication/PubMed/34230136" } ] }, { "annotation": "HOXB5 promotes proliferation, migration, and invasion of pancreatic cancer cell through the activation of the GSK3beta/beta-catenin pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, { "database": "PubMed", "id": "32796404", "url": "https://glygen.org/publication/PubMed/32796404" } ] }, { "annotation": "HOXB5 promotes the progression of breast cancer through wnt/beta-catenin pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" }, { "database": "PubMed", "id": "34118725", "url": "https://glygen.org/publication/PubMed/34118725" } ] }, { "annotation": "Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067#function" } ] }, { "annotation": "This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P09067", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09067" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 125, "end_pos": 125, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "17", "chr_pos": "48593309", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S125", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs766040443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766040443" }, { "id": "rs766040443", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766040443" }, { "id": "rs766040443", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766040443" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 173, "end_pos": 173, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "17", "chr_pos": "48593166", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760358569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760358569" }, { "id": "rs760358569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760358569" }, { "id": "rs760358569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760358569#frequency_tab" }, { "id": "rs760358569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760358569" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 173, "end_pos": 173, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "17", "chr_pos": "48593165", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1276718933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276718933" }, { "id": "rs1276718933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276718933" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 188, "end_pos": 188, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "17", "chr_pos": "48593121", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765454284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765454284" }, { "id": "rs765454284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765454284" }, { "id": "rs765454284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765454284" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "17", "chr_pos": "48593591", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs980649580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980649580" }, { "id": "rs980649580", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs980649580" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline 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"sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "17", "chr_pos": "48593528", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M52", "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": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "56.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "52.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "60.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": 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"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", 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"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 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"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", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "common_name": "Human" } ], "gene": [ { "name": "HOXB5", "url": "https://www.uniprot.org/uniprot/P09067", "locus": { "chromosome": "17", "start_pos": 48591257, "end_pos": 48593779, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000120075", "url": "https://www.ensembl.org/id/ENSG00000120075" } ] } } ], "crossref": [ { "id": "ENSG00000120075", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120075", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P09067", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09067", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "HOXB5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOXB5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3215", "url": "https://www.ncbi.nlm.nih.gov/gene/3215", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "5116", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5116", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P09067", "url": "https://www.ebi.ac.uk/intact/interactors/id:P09067*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001827", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001827", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017970", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017995", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017995", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020479", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020479", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3215", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3215", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "142960", "url": "http://www.omim.org/entry/142960", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P09067", "url": "https://www.nextprot.org/entry/NX_P09067", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P09067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09067", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TNGESHG", "url": "https://omabrowser.org/oma/group/TNGESHG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "728401at2759", "url": "http://www.orthodb.org/?query=728401at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45659", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45659", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45659:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45659:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "http://pfam.xfam.org/family/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P09067", "url": "https://pharos.nih.gov/targets/P09067", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P09067", "url": "http://purl.obolibrary.org/obo/PR_P09067", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09067-1", "url": "https://www.uniprot.org/uniprot/P09067-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSYFVNSFSGRYPNGPDYQLLNYGSGSSLSGSYRDPAAMHTGSYGYNYNGMDLSVNRSSASSSHFGAVGESSRAFPAPAQEPRFRQAASSCSLSSPESLPCTNGDSHGAKPSASSPSDQATSASSSANFTEIDEASASSEPEEAASQLSSPSLARAQPEPMATSTAAPEGQTPQIFPWMRKLHISHDMTGPDGKRARTAYTRYQTLELEKEFHFNRYLTRRRRIEIAHALCLSERQIKIWFQNRRMKWKKDNKLKSMSLATAGSAFQP", "length": 269, "header": "sp|P09067-1|HXB5_HUMAN Isoform 1 of Homeobox protein Hox-B5 OS=Homo sapiens OX=9606 GN=HOXB5 PE=1 SV=3 CANONICAL=P09067-1" }, "isoforms": [ { "isoform_ac": "P09067-1", "url": "", "sequence": { "sequence": "MSSYFVNSFSGRYPNGPDYQLLNYGSGSSLSGSYRDPAAMHTGSYGYNYNGMDLSVNRSSASSSHFGAVGESSRAFPAPAQEPRFRQAASSCSLSSPESLPCTNGDSHGAKPSASSPSDQATSASSSANFTEIDEASASSEPEEAASQLSSPSLARAQPEPMATSTAAPEGQTPQIFPWMRKLHISHDMTGPDGKRARTAYTRYQTLELEKEFHFNRYLTRRRRIEIAHALCLSERQIKIWFQNRRMKWKKDNKLKSMSLATAGSAFQP", "length": 269, "header": "sp|P09067-1|HXB5_HUMAN Isoform 1 of Homeobox protein Hox-B5 OS=Homo sapiens OX=9606 GN=HOXB5 PE=1 SV=3 CANONICAL=P09067-1" }, "locus": { "chromosome": "17", "start_pos": 48593682, "end_pos": 48592212, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000239151.6", "url": "https://www.ensembl.org/id/ENST00000239151.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000239151.4", "url": "https://www.ensembl.org/id/ENSP00000239151.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 173, "start_aa": "Thr", "end_pos": 173, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr173", "evidence": [ { "id": "P09067", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09067" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cooperative DNA binding of the highly conserved human Hox 2.1 homeodomain gene product.", "journal": "New Biol.", "date": "1992", "authors": "Galang CK, Hauser CA", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "reference": [ { "type": "PubMed", "id": "1355360", "url": "https://glygen.org/publication/PubMed/1355360" } ] }, { "title": "Organization of human class I homeobox genes.", "journal": "Genome", "date": "1989", "authors": "Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "reference": [ { "type": "PubMed", "id": "2576652", "url": "https://glygen.org/publication/PubMed/2576652" } ] }, { "title": "HOXB5 promotes proliferation, migration, and invasion of pancreatic cancer cell through the activation of the GSK3beta/beta-catenin pathway.", "journal": "Anti-cancer drugs", "date": "2020", "authors": "Gao Y, Fei X, Kong L, Tan X", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ], "reference": [ { "type": "PubMed", "id": "32796404", "url": "https://glygen.org/publication/PubMed/32796404" } ] }, { "title": "CXCL12-mediated HOXB5 overexpression facilitates Colorectal Cancer metastasis through transactivating CXCR4 and ITGB3.", "journal": "Theranostics", "date": "2021", "authors": "Feng W, Huang W, Chen J, Qiao C, Liu D, Ji X, Xie M, Zhang T, Wang Y, Sun M, Tian D, Fan D, Nie Y, Wu K, Xia L", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ], "reference": [ { "type": "PubMed", "id": "33456563", "url": "https://glygen.org/publication/PubMed/33456563" } ] }, { "title": "HOXB5 promotes the progression of breast cancer through wnt/beta-catenin pathway.", "journal": "Pathology, research and practice", "date": "2021", "authors": "Zhang J, Zhang S, Li X, Zhang F, Zhao L", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ], "reference": [ { "type": "PubMed", "id": "34118725", "url": "https://glygen.org/publication/PubMed/34118725" } ] }, { "title": "HOXB5 Confers Tamoxifen Resistance in Breast Cancer Cells and Promotes Tumor Aggression and Progression.", "journal": "Anticancer research", "date": "2021", "authors": "Kim CY, Kim YC, Oh JH, Kim MH", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ], "reference": [ { "type": "PubMed", "id": "34230136", "url": "https://glygen.org/publication/PubMed/34230136" } ] }, { "title": "A human homoeo box gene specifically expressed in spinal cord during embryonic development.", "journal": "Nature", "date": "1986", "authors": "Simeone A, Mavilio F, Bottero L, Giampaolo A, Russo G, Faiella A, Boncinelli E, Peschle C", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "reference": [ { "type": "PubMed", "id": "3453105", "url": "https://glygen.org/publication/PubMed/3453105" } ] }, { "title": "Circ_0020123 enhances the cisplatin resistance in non-small cell lung cancer cells partly by sponging miR-140-3p to regulate homeobox B5 (HOXB5).", "journal": "Bioengineered", "date": "2022", "authors": "Wei D, Zeng J, Rong F, Xu Y, Wei R, Zou C", "evidence": [ { "database": "RefSeq", "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138" } ], "reference": [ { "type": "PubMed", "id": "35170372", "url": "https://glygen.org/publication/PubMed/35170372" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09067", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09067" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Expression of homologous homeo-box-containing genes in differentiated human teratocarcinoma cells and mouse embryos.", "journal": "Cell", "date": "1985", "authors": "Hauser C A, Joyner A L, Klein R D, Learned T K, Martin G R, Tjian R", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "reference": [ { "type": "PubMed", "id": "4075393", "url": "https://glygen.org/publication/PubMed/4075393" } ] }, { "title": "Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila.", "journal": "Cell", "date": "1984", "authors": "Levine M, Rubin G M, Tjian R", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "reference": [ { "type": "PubMed", "id": "6091895", "url": "https://glygen.org/publication/PubMed/6091895" } ] } ], "pathway": [ { "id": "hsa:3215", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3215", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZMA1-1", "protein_name": "Homeo box B5", "gene_name": "Hoxb5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSYFVNSFSGRYPNGPDYQLLNYGSGSSLSGSYRDPAAMHTGSYGYNYNGMDLSVNRSSASSSHFGAVGESSRAFPASAQEPRFRQATSSCSLSSPESLPCTNGDSHGAKPSASSPSDQATPASSSANFTEIDEASASSEPEEAASQLSSPSLARAQPEPMATSTAAPEGQTPQIFPWMRKLHISHDMTGPDGKRARTAYTRYQTLELEKEFHFNRYLTRRRRIEIAHALCLSERQIKIWFQNRRMKWKKDNKLKSMSLATAGSAFQP", "length": 269 }, "evidence": [ { "id": "45916561", "url": "http://www.informatics.jax.org/homology/45916561", "database": "MGI" }, { "id": "P09067", "url": "https://omabrowser.org/oma/group/P09067/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P09079-1", "protein_name": "Homeobox protein Hox-B5", "gene_name": "Hoxb5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSYFVNSFSGRYPNGPDYQLLNYGSGSSLSGSYRDPAAMHTGSYGYNYNGMDLSVNRSSASSSHFGAVGESSRAFPASAQEPRFRQATSSCSLSSPESLPCTNGDSHGAKPSASSPSDQATPASSSANFTEIDEASASSEPEEAASQLSSPSLARAQPEPMATSTAAPEGQTPQIFPWMRKLHISHDMTGPDGKRARTAYTRYQTLELEKEFHFNRYLTRRRRIEIAHALCLSERQIKIWFQNRRMKWKKDNKLKSMSLATAGSAFQP", "length": 269 }, "evidence": [ { "id": "45916561", "url": "http://www.informatics.jax.org/homology/45916561", "database": "MGI" }, { "id": "P09067", "url": "https://omabrowser.org/oma/group/P09067/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "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": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "endothelial cell differentiation", "id": "GO:0045446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045446", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P09067", "url": "https://www.uniprot.org/uniprot/P09067" } ], "pmid": "" } 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