{ "uniprot_canonical_ac": "P10412-1", "uniprot_ac": "P10412", "uniprot_id": "H14_HUMAN", "mass": { "chemical_mass": 21865.0, "monoisotopic_mass": 21865.0 }, "refseq": { "ac": "NP_005312", "name": "histone H1.4", "summary": "Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312" }, "gene_names": [ { "name": "H1-4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10412", "id": "P10412" }, { "name": "H1-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312", "id": "NP_005312" }, { "name": "H1F4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10412", "id": "P10412" }, { "name": "HIST1H1E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10412", "id": "P10412" }, { "name": "dJ221C16.5; H1.4; H1E; H1F4; H1s-4; HIST1H1E; RMNS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312", "id": "NP_005312" } ], "protein_names": [ { "name": "Histone H1.4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10412" }, { "name": "Histone H1b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10412" }, { "name": "Histone H1s-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10412" }, { "name": "histone H1.4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312", "id": "NP_005312" }, { "name": "histone H1b; H1 histone family, member 4; histone 1, H1e; histone H1s-4; histone cluster 1, H1e; histone cluster 1 H1 family member e", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312", "id": "NP_005312" } ], "function": [ { "annotation": "Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412#function" } ] }, { "annotation": "Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_005312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005312" } ] } ], "disease": [ { "disease_id": "MONDO:0044323", "recommended_name": { "id": "MONDO:0044323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044323", "name": "Rahman syndrome", "description": "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." }, "synonyms": [ { "id": "MONDO:0044323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044323", "name": "Rahman syndrome", "description": "" }, { "id": "MONDO:0044323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044323", "name": "autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation", "description": "" }, { "id": "MONDO:0044323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044323", "name": "RMNS", "description": "" }, { "id": "MIM:617537", "resource": "MIM", "url": "https://www.omim.org/entry/617537", "name": "Rahman syndrome", "description": "Rahman syndrome" } ], "evidence": [ { "id": "617537", "database": "MIM", "url": "https://www.omim.org/entry/617537" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "52.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "52.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "69.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "65.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168298", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168298" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10412", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10412" } ], "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", 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"PubMed", "id": "17043054", "url": "https://glygen.org/publication/PubMed/17043054" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "P10412", "url": "http://phospho.elm.eu.org/byAccession/P10412.html" }, { "database": "PRO", "id": "P10412", "url": "http://purl.obolibrary.org/obo/P10412" }, { "database": "PubMed", "id": "20439994", "url": "https://glygen.org/publication/PubMed/20439994" }, { "database": "PubMed", "id": "28539972", "url": "https://glygen.org/publication/PubMed/28539972" } ], "site_lbl": "Ser187" }, { "start_pos": 18, "end_pos": 18, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "15595731", "url": "https://glygen.org/publication/PubMed/15595731" }, { "database": "PubMed", "id": "17043054", "url": "https://glygen.org/publication/PubMed/17043054" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "P10412", "url": "http://phospho.elm.eu.org/byAccession/P10412.html" }, { "database": "PRO", "id": "P10412", "url": "http://purl.obolibrary.org/obo/P10412" }, { "database": "PubMed", "id": "20439994", "url": "https://glygen.org/publication/PubMed/20439994" } ], "site_lbl": "Thr18" }, { "start_pos": 27, "end_pos": 27, "kinase_uniprot_canonical_ac": "Q96GD4-1", "kinase_gene_name": "AURKB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "21511733", "url": "https://glygen.org/publication/PubMed/21511733" } ], "site_lbl": "Ser27" }, { "start_pos": 27, "end_pos": 27, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "15595731", "url": "https://glygen.org/publication/PubMed/15595731" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P10412", "url": "http://phospho.elm.eu.org/byAccession/P10412.html" }, { "database": "PRO", "id": "P10412", "url": "http://purl.obolibrary.org/obo/P10412" }, { "database": "PubMed", "id": "16127177", "url": "https://glygen.org/publication/PubMed/16127177" }, { "database": "PubMed", "id": "20439994", "url": "https://glygen.org/publication/PubMed/20439994" } ], "site_lbl": "Ser27" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" }, { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "15595731", "url": "https://glygen.org/publication/PubMed/15595731" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" }, { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "17043054", "url": "https://glygen.org/publication/PubMed/17043054" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P10412", "url": "http://phospho.elm.eu.org/byAccession/P10412.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Ser36" }, { "start_pos": 41, "end_pos": 41, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "17043054", "url": "https://glygen.org/publication/PubMed/17043054" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser41" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "15595731", "url": "https://glygen.org/publication/PubMed/15595731" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P10412", "url": "http://phospho.elm.eu.org/byAccession/P10412.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr4" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser55" }, { "start_pos": 71, "end_pos": 71, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr71" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Activation of the apoptotic endonuclease DFF40 (caspase-activated DNase or nuclease). Oligomerization and direct interaction with histone H1.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Liu X, Zou H, Widlak P, Garrard W, Wang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "10318789", "url": "https://glygen.org/publication/PubMed/10318789" } ] }, { "title": "Cleavage preferences of the apoptotic endonuclease DFF40 (caspase-activated DNase or nuclease) on naked DNA and chromatin substrates.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Widlak P, Li P, Wang X, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "10713148", "url": "https://glygen.org/publication/PubMed/10713148" } ] }, { "title": "The distribution of somatic H1 subtypes is non-random on active vs. inactive chromatin: distribution in human fetal fibroblasts.", "journal": "Chromosome Res.", "date": "2000", "authors": "Parseghian M H, Newcomb R L, Winokur S T, Hamkalo B A", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" } ], "reference": [ { "type": "PubMed", "id": "10997781", "url": "https://glygen.org/publication/PubMed/10997781" } ] }, { "title": "The human and mouse replication-dependent histone genes.", "journal": "Genomics", "date": "2002", "authors": "Marzluff WF, Gongidi P, Woods KR, Jin J, Maltais LJ", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" } ], "reference": [ { "type": "PubMed", "id": "12408966", "url": "https://glygen.org/publication/PubMed/12408966" } ] }, { "title": "Subunit structures and stoichiometries of human DNA fragmentation factor proteins before and after induction of apoptosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Widlak P, Lanuszewska J, Cary RB, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "12748178", "url": "https://glygen.org/publication/PubMed/12748178" } ] }, { "title": "Structural mechanism for inactivation and activation of CAD/DFF40 in the apoptotic pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Woo EJ, Kim YG, Kim MS, Han WD, Shin S, Robinson H, Park SY, Oh BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15149602", "url": "https://glygen.org/publication/PubMed/15149602" } ] }, { "title": "Human SirT1 interacts with histone H1 and promotes formation of facultative heterochromatin.", "journal": "Molecular cell", "date": "2004", "authors": "Vaquero A, Scher M, Lee D, Erdjument-Bromage H, Tempst P, Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "P10412", "url": "https://www.uniprot.org/uniprot/P10412" } ], "reference": [ { "type": "PubMed", "id": "15469825", "url": "https://glygen.org/publication/PubMed/15469825" } ] }, { "title": "Nuclear translocation of caspase-3 is dependent on its proteolytic activation and recognition of a substrate-like protein(s).", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kamada S, Kikkawa U, Tsujimoto Y, Hunter T", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15569692", "url": "https://glygen.org/publication/PubMed/15569692" } ] }, { "title": "Characterization of phosphorylation sites on histone H1 isoforms by tandem mass spectrometry.", "journal": "Journal of proteome research", "date": "2004", "authors": "Garcia BA, Busby SA, Barber CM, Shabanowitz J, Allis CD, Hunt DF", "evidence": [ { "database": "iPTMnet", "id": "P10412", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10412" } ], "reference": [ { "type": "PubMed", "id": "15595731", "url": "https://glygen.org/publication/PubMed/15595731" } ] }, { "title": "Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.", "journal": "Developmental cell", "date": "2005", "authors": "Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559584" } ], "reference": [ { "type": "PubMed", "id": "15621527", "url": "https://glygen.org/publication/PubMed/15621527" } ] }, { "title": "The p400 E1A-associated protein is a novel component of the p53 --> p21 senescence pathway.", "journal": "Genes & development", "date": "2005", "authors": "Chan HM, Narita M, Lowe SW, Livingston DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559584", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559584" } ], "reference": [ { "type": "PubMed", "id": "15655109", "url": "https://glygen.org/publication/PubMed/15655109" } ] }, { "title": "The histone H1 C-terminal domain binds to the apoptotic nuclease, DNA fragmentation factor (DFF40/CAD) and stimulates DNA cleavage.", "journal": "Biochemistry", "date": "2005", "authors": "Widlak P, Kalinowska M, Parseghian MH, Lu X, Hansen JC, Garrard WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140342", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140342" } ], "reference": [ { "type": "PubMed", "id": "15910001", "url": "https://glygen.org/publication/PubMed/15910001" } ] }, { "title": "H1 family histones in the nucleus. Control of binding and localization by the C-terminal domain.", "journal": "J. Biol. 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