{ "uniprot_canonical_ac": "O43365-1", "uniprot_ac": "O43365", "uniprot_id": "HXA3_HUMAN", "mass": { "chemical_mass": 46369.0, "monoisotopic_mass": 46369.0 }, "refseq": { "ac": "NP_109377", "name": "homeobox protein Hox-A3", "summary": "In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377" }, "gene_names": [ { "name": "HOXA3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43365", "id": "O43365" }, { "name": "HOX1; HOX1E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377", "id": "NP_109377" }, { "name": "HOX1E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43365", "id": "O43365" }, { "name": "HOXA3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377", "id": "NP_109377" } ], "protein_names": [ { "name": "Homeobox protein Hox-A3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43365" }, { "name": "Homeobox protein Hox-1E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43365" }, { "name": "homeo box A3; homeo box 1E; Hox-1.5-like protein; homeobox protein Hox-1E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377", "id": "NP_109377" }, { "name": "homeobox protein Hox-A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377", "id": "NP_109377" } ], "function": [ { "annotation": "ARID1B/SUB1-activated lncRNA HOXA-AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3.", "evidence": [ { "database": "RefSeq", "id": "NP_109377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377" }, { "database": "PubMed", "id": "33683826", "url": "https://glygen.org/publication/PubMed/33683826" } ] }, { "annotation": "Bioinformatics analysis of putative target mRNAs of miR3383p identified a direct binding site in the 3'untranslated of homeobox A3 (HOXA3).", "evidence": [ { "database": "RefSeq", "id": "NP_109377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377" }, { "database": "PubMed", "id": "31322185", "url": "https://glygen.org/publication/PubMed/31322185" } ] }, { "annotation": "Homeobox A3 and KDM6A cooperate in transcriptional control of aerobic glycolysis and glioblastoma progression.", "evidence": [ { "database": "RefSeq", "id": "NP_109377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377" }, { "database": "PubMed", "id": "36215227", "url": "https://glygen.org/publication/PubMed/36215227" } ] }, { "annotation": "In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_109377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377" } ] }, { "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": "O43365", "url": "https://www.uniprot.org/uniprot/O43365#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs148350002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148350002" }, { "id": "rs148350002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148350002#frequency_tab" }, { "id": "rs148350002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148350002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NST); n-glyco-sequon-gain (NNP->NNS).", "chr_id": "7", "chr_pos": "27110238", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148350002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148350002" }, { "id": "rs148350002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148350002#frequency_tab" }, { "id": "rs148350002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148350002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NTT); n-glyco-sequon-gain (NNP->NNT).", "chr_id": "7", "chr_pos": "27110238", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs530713477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs530713477" }, { "id": "rs530713477", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs530713477" }, { "id": "rs530713477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs530713477" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "27110298", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.00619", "site_lbl": "T115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148350002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148350002" }, { "id": "rs148350002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148350002" }, { "id": "rs148350002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148350002#frequency_tab" }, { "id": "rs148350002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148350002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NAT).", "chr_id": "7", "chr_pos": "27110238", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761025094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025094" }, { "id": "rs761025094", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761025094" }, { "id": "rs761025094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761025094" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "7", "chr_pos": "27110237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777252489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777252489" }, { "id": "rs777252489", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777252489" }, { "id": "rs777252489", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777252489" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 148, "end_pos": 148, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "7", "chr_pos": "27110199", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757931038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757931038" }, { "id": "rs757931038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757931038" }, { "id": "rs757931038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757931038" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 148, "end_pos": 148, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "7", "chr_pos": "27110198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1338817885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338817885" }, { "id": "rs1338817885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1338817885#frequency_tab" }, { "id": "rs1338817885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338817885" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 149, "end_pos": 149, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "7", "chr_pos": "27110196", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P149", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43365", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43365" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 160, "end_pos": 160, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "7", "chr_pos": "27110161", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K160", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1562710971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562710971" }, { "id": "rs1562710971", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562710971" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "7", "chr_pos": "27110129", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748131705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748131705" }, { "id": "rs748131705", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748131705" }, { "id": "rs748131705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748131705" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 29, "end_pos": 29, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "7", "chr_pos": "27110555", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N29", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148881843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148881843" }, { "id": "rs148881843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148881843" }, { "id": "rs148881843", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148881843#frequency_tab" }, { "id": "rs148881843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148881843" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 376, "end_pos": 376, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "7", "chr_pos": "27108120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371241609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371241609" }, { "id": "rs371241609", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371241609" }, { "id": "rs371241609", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371241609#frequency_tab" }, { "id": "22810696", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22810696" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 423, "end_pos": 423, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "7", "chr_pos": "27107980", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D423", "keywords": [ "ebi", "somatic" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "61.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "80.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "51.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43365", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43365" } ], "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43365", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43365" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43365" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43365", "url": "https://www.uniprot.org/uniprot/O43365" } ], "common_name": "Human" } ], "gene": [ { "name": "HOXA3", "url": "https://www.uniprot.org/uniprot/O43365", "locus": { "chromosome": "7", "start_pos": 27106184, "end_pos": 27152583, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105997", "url": "https://www.ensembl.org/id/ENSG00000105997" } ] } } ], "crossref": [ { "id": "ENSG00000105997", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105997", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43365", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43365", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", 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"https://www.uniprot.org/uniprot/F2Z3A4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43365", "url": "https://www.uniprot.org/uniprot/O43365", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43365-1", "url": "https://www.uniprot.org/uniprot/O43365-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQKATYYDSSAIYGGYPYQAANGFAYNANQQPYPASAALGADGEYHRPACSLQSPSSAGGHPKAHELSEACLRTLSAPPSQPPSLGEPPLHPPPPQAAPPAPQPPQPAPQPPAPTPAAPPPPSSASPPQNASNNPTPANAAKSPLLNSPTVAKQIFPWMKESRQNTKQKTSSSSSGESCAGDKSPPGQASSKRARTAYTSAQLVELEKEFHFNRYLCRPRRVEMANLLNLTERQIKIWFQNRRMKYKKDQKGKGMLTSSGGQSPSRSPVPPGAGGYLNSMHSLVNSVPYEPQSPPPFSKPPQGTYGLPPASYPASLPSCAPPPPPQKRYTAAGAGAGGTPDYDPHAHGLQGNGSYGTPHIQGSPVFVGGSYVEPMSNSGPALFGLTHLPHAASGAMDYGGAGPLGSGHHHGPGPGEPHPTYTDLTGHHPSQGRIQEAPKLTHL", "length": 443, "header": "sp|O43365-1|HXA3_HUMAN Isoform 1 of Homeobox protein Hox-A3 OS=Homo sapiens OX=9606 GN=HOXA3 PE=1 SV=1 CANONICAL=O43365-1" }, "isoforms": [ { 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"start_pos": 27110640, "end_pos": 27110479, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522456.1", "url": "https://www.ensembl.org/id/ENST00000522456.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430566.1", "url": "https://www.ensembl.org/id/ENSP00000430566.1" } ] } }, { "isoform_ac": "O43365-1", "url": "", "sequence": { "sequence": "MQKATYYDSSAIYGGYPYQAANGFAYNANQQPYPASAALGADGEYHRPACSLQSPSSAGGHPKAHELSEACLRTLSAPPSQPPSLGEPPLHPPPPQAAPPAPQPPQPAPQPPAPTPAAPPPPSSASPPQNASNNPTPANAAKSPLLNSPTVAKQIFPWMKESRQNTKQKTSSSSSGESCAGDKSPPGQASSKRARTAYTSAQLVELEKEFHFNRYLCRPRRVEMANLLNLTERQIKIWFQNRRMKYKKDQKGKGMLTSSGGQSPSRSPVPPGAGGYLNSMHSLVNSVPYEPQSPPPFSKPPQGTYGLPPASYPASLPSCAPPPPPQKRYTAAGAGAGGTPDYDPHAHGLQGNGSYGTPHIQGSPVFVGGSYVEPMSNSGPALFGLTHLPHAASGAMDYGGAGPLGSGHHHGPGPGEPHPTYTDLTGHHPSQGRIQEAPKLTHL", "length": 443, "header": "sp|O43365-1|HXA3_HUMAN Isoform 1 of Homeobox protein Hox-A3 OS=Homo sapiens OX=9606 GN=HOXA3 PE=1 SV=1 CANONICAL=O43365-1" }, "locus": { "chromosome": "7", "start_pos": 27110640, "end_pos": 27107918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396352.8", "url": "https://www.ensembl.org/id/ENST00000396352.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000379640.3", "url": "https://www.ensembl.org/id/ENSP00000379640.3" } ] } } ], "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": 115, "start_aa": "Thr", "end_pos": 115, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr115", "evidence": [ { "id": "O43365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43365" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 148, "start_aa": "Ser", "end_pos": 148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser148", "evidence": [ { "id": "O43365", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43365" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Recruitment of nuclear receptor corepressor and coactivator to the retinoic acid receptor by retinoid ligands. Influence of DNA-heterodimer interactions.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Klein ES, Wang JW, Khalifa B, Gavigan SA, Chandraratna RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "10777502", "url": "https://glygen.org/publication/PubMed/10777502" } ] }, { "title": "Expression of HOXB2, a retinoic acid signaling target in pancreatic cancer and pancreatic intraepithelial neoplasia.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2005", "authors": "Segara D, Biankin AV, Kench JG, Langusch CC, Dawson AC, Skalicky DA, Gotley DC, Coleman MJ, Sutherland RL, Henshall SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "15867264", "url": "https://glygen.org/publication/PubMed/15867264" } ] }, { "title": "HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.", "journal": "Human molecular genetics", "date": "2005", "authors": "Zhai J, Lin H, Canete-Soler R, Schlaepfer WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "16079151", "url": "https://glygen.org/publication/PubMed/16079151" } ] }, { "title": "MicroRNA fingerprints during human megakaryocytopoiesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": 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HOXA cluster.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Sessa L, Breiling A, Lavorgna G, Silvestri L, Casari G, Orlando V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17185360", "url": "https://glygen.org/publication/PubMed/17185360" } ] }, { "title": "Overlapping roles of the methylated DNA-binding protein MBD1 and polycomb group proteins in transcriptional repression of HOXA genes and heterochromatin foci formation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sakamoto Y, Watanabe S, Ichimura T, Kawasuji M, Koseki H, Baba H, Nakao M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "17428788", "url": "https://glygen.org/publication/PubMed/17428788" } ] }, { "title": "HOX4 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"7906964", "url": "https://glygen.org/publication/PubMed/7906964" } ] }, { "title": "Regulation of the human HOXD4 gene by retinoids.", "journal": "Mechanisms of development", "date": "1993", "authors": "Moroni MC, Vigano MA, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "7908827", "url": "https://glygen.org/publication/PubMed/7908827" } ] }, { "title": "In vitro and transgenic analysis of a human HOXD4 retinoid-responsive enhancer.", "journal": "Development (Cambridge, England)", "date": "1996", "authors": "Morrison A, Moroni MC, Ariza-McNaughton L, Krumlauf R, Mavilio F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5617472", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617472" } ], "reference": [ { "type": "PubMed", "id": "8674428", "url": "https://glygen.org/publication/PubMed/8674428" } ] }, { "title": "Functional interaction 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