{ "uniprot_canonical_ac": "P05114-1", "uniprot_ac": "P05114", "uniprot_id": "HMGN1_HUMAN", "mass": { "chemical_mass": 10659.0, "monoisotopic_mass": 10659.0 }, "refseq": { "ac": "NP_004956", "name": "non-histone chromosomal protein HMG-14", "summary": "The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" }, "gene_names": [ { "name": "HMGN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05114", "id": "P05114" }, { "name": "HMG14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956", "id": "NP_004956" }, { "name": "HMG14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05114", "id": "P05114" }, { "name": "HMGN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956", "id": "NP_004956" }, { "name": "hCG_401225", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05114", "id": "P05114" } ], "protein_names": [ { "name": "Non-histone chromosomal protein HMG-14", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05114" }, { "name": "High mobility group nucleosome-binding domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05114" }, { "name": "high-mobility group nucleosome binding 1; high-mobility group (nonhistone chromosomal) protein 14; nonhistone chromosomal protein HMG-14; high mobility group nucleosome-binding domain-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956", "id": "NP_004956" }, { "name": "non-histone chromosomal protein HMG-14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956", "id": "NP_004956" } ], "function": [ { "annotation": "Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P05114", "url": "https://www.uniprot.org/uniprot/P05114#function" } ] }, { "annotation": "Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" }, { "database": "PubMed", "id": "36463299", "url": "https://glygen.org/publication/PubMed/36463299" } ] }, { "annotation": "Spatial and Temporal Expression of High-Mobility-Group Nucleosome-Binding (HMGN) Genes in Brain Areas Associated with Cognition in Individuals with Down Syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" }, { "database": "PubMed", "id": "34946949", "url": "https://glygen.org/publication/PubMed/34946949" } ] }, { "annotation": "Studies indicate that high mobility group nucleosome binding domain 1 (HMGN1) preferentially promotes Th1-type immunity, which makes it relevant for the fields of vaccinology, autoimmunity, and oncoimmunology [Review]. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" }, { "database": "PubMed", "id": "29503123", "url": "https://glygen.org/publication/PubMed/29503123" } ] }, { "annotation": "The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" } ] }, { "annotation": "Transcriptional amplification downstream of HMGN1 is enriched for stage-specific programs of B cells and B cell acute lymphoblastic leukemia, dependent on the developmental cellular context.", "evidence": [ { "database": "RefSeq", "id": "NP_004956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004956" }, { "database": "PubMed", "id": "30428356", "url": "https://glygen.org/publication/PubMed/30428356" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P05114", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05114" } ], "glycoeffect": [], "start_pos": 10, "end_pos": 10, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "21", "chr_pos": "39348565", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E10", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205581" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": 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"evidence": [ { "database": "BioXpress", "id": "P05114", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05114" } ], "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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"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", 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"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": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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