{ "uniprot_canonical_ac": "P83917-1", "uniprot_ac": "P83917", "uniprot_id": "CBX1_MOUSE", "mass": { "chemical_mass": 21418.0, "monoisotopic_mass": 21418.0 }, "refseq": { "ac": "NP_031648", "name": "chromobox protein homolog 1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" }, "gene_names": [ { "name": "Cbx1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P83917", "id": "P83917" }, { "name": "Cbx1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648", "id": "NP_031648" }, { "name": "Cbx; Cbx-rs2; E430007M08Rik; HP1B; Hp1beta; M31; MOD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648", "id": "NP_031648" }, { "name": "Cbx", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P83917", "id": "P83917" } ], "protein_names": [ { "name": "Chromobox protein homolog 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P83917" }, { "name": "HP1 beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P83917" }, { "name": "Heterochromatin protein 1 homolog beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P83917" }, { "name": "Heterochromatin protein p25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P83917" }, { "name": "M31", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P83917" }, { "name": "Modifier 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P83917" }, { "name": "chromobox protein homolog 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648", "id": "NP_031648" }, { "name": "chromobox protein homolog 1; modifier 1 protein; heterochromatin protein p25; heterochromatin protein 1 homolog beta; chromobox homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648", "id": "NP_031648" } ], "function": [ { "annotation": "Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917#function" }, { "database": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" }, { "database": "PubMed", "id": "11571267", "url": "https://glygen.org/publication/PubMed/11571267" } ] }, { "annotation": "Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" }, { "database": "PubMed", "id": "37087635", "url": "https://glygen.org/publication/PubMed/37087635" } ] }, { "annotation": "Phosphorylation of the HP1beta hinge region sequesters KAP1 in heterochromatin and promotes the exit from naive pluripotency.", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" }, { "database": "PubMed", "id": "34214177", "url": "https://glygen.org/publication/PubMed/34214177" } ] }, { "annotation": "Role of HP1beta during spermatogenesis and DNA replication.", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" }, { "database": "PubMed", "id": "32651609", "url": "https://glygen.org/publication/PubMed/32651609" } ] } ], "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 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"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": 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"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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 161, "end_pos": 161, "sequence_org": "I", "sequence_mut": "E", "comment": "Abolishes homodimer formation.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" }, { "database": "PubMed", "id": "10747027", "url": "https://glygen.org/publication/PubMed/10747027" } ] }, { "start_pos": 164, "end_pos": 164, "sequence_org": "Y", "sequence_mut": "E", "comment": "Abolishes homodimer formation.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" }, { "database": "PubMed", "id": "10747027", "url": "https://glygen.org/publication/PubMed/10747027" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "V", "sequence_mut": "M", "comment": "Abolishes interaction with SUV39H1.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" }, { "database": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "start_pos": 26, "end_pos": 26, "sequence_org": "V", "sequence_mut": "R", "comment": "Abolishes interaction with SUV39H1.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" }, { "database": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Cbx1", "url": "https://www.uniprot.org/uniprot/P83917", "locus": { "chromosome": "11", "start_pos": 96699466, "end_pos": 96679953, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000018666", "url": "https://www.ensembl.org/id/ENSMUSG00000018666" } ] } } ], "crossref": [ { "id": "ENSMUSG00000018666", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000018666", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd18650", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18650", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18654", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18654", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "12412", "url": "https://www.ncbi.nlm.nih.gov/gene/12412", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P83917", "url": "https://www.ebi.ac.uk/intact/interactors/id:P83917*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000953", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000953", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008251", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008251", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016197", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016197", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017984", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017984", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023779", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023779", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023780", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023780", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:12412", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12412", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "105369", "url": "http://www.informatics.jax.org/marker/MGI:105369", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "LMAWLEF", "url": "https://omabrowser.org/oma/group/LMAWLEF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "75895at2759", "url": "http://www.orthodb.org/?query=75895at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22812", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22812", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22812:SF159", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22812:SF159", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1AP0", "url": "https://www.rcsb.org/structure/1AP0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DZ1", "url": "https://www.rcsb.org/structure/1DZ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1GUW", "url": "https://www.rcsb.org/structure/1GUW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1S4Z", "url": "https://www.rcsb.org/structure/1S4Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00385", "url": "http://pfam.xfam.org/family/PF00385", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01393", "url": "http://pfam.xfam.org/family/PF01393", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P83917", "url": "http://purl.obolibrary.org/obo/PR_P83917", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P83917-1", "url": "https://www.uniprot.org/uniprot/P83917-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TPM0", "url": "https://www.uniprot.org/uniprot/Q7TPM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TPM0-1", "url": "https://www.uniprot.org/uniprot/Q7TPM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CYJ8", "url": "https://www.uniprot.org/uniprot/Q9CYJ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CYJ8-1", "url": "https://www.uniprot.org/uniprot/Q9CYJ8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN", "length": 185, "header": "sp|P83917-1|CBX1_MOUSE Isoform 1 of Chromobox protein homolog 1 OS=Mus musculus OX=10090 GN=Cbx1 PE=1 SV=1 CANONICAL=P83917-1" }, "isoforms": [ { "isoform_ac": "P83917-1", "url": "", "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN", "length": 185, "header": "sp|P83917-1|CBX1_MOUSE Isoform 1 of Chromobox protein homolog 1 OS=Mus musculus OX=10090 GN=Cbx1 PE=1 SV=1 CANONICAL=P83917-1" }, "locus": { "chromosome": "11", "start_pos": 96697583, "end_pos": 96691634, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000093943", "url": "https://www.ensembl.org/id/ENSMUST00000093943" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000091475", "url": "https://www.ensembl.org/id/ENSMUSP00000091475" } ] } }, { "isoform_ac": "Q7TPM0-1", "url": "", "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKW", "length": 138, "header": "tr|Q7TPM0-1|Q7TPM0_MOUSE Computationally mapped isoform of Cbx1 protein OS=Mus musculus OX=10090 GN=Cbx1 PE=1 SV=1 CANONICAL=P83917-1" }, "locus": { "chromosome": "11", "start_pos": 96693649, "end_pos": 96691634, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000018810.10", "url": "https://www.ensembl.org/id/ENSMUST00000018810.10" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000018810.4", "url": "https://www.ensembl.org/id/ENSMUSP00000018810.4" } ] } }, { "isoform_ac": "Q9CYJ8-1", "url": "", "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWSSSRVAQSGLEL", "length": 150, "header": "tr|Q9CYJ8-1|Q9CYJ8_MOUSE Computationally mapped isoform of Chromobox 1 OS=Mus musculus OX=10090 GN=Cbx1 PE=1 SV=1 CANONICAL=P83917-1" }, "locus": { "chromosome": "11", "start_pos": 96699046, "end_pos": 96691634, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000079702.4", "url": "https://www.ensembl.org/id/ENSMUST00000079702.4" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000078640.4", "url": "https://www.ensembl.org/id/ENSMUSP00000078640.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 175, "end_pos": 175, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "site_lbl": "Ser175" }, { "start_pos": 89, "end_pos": 89, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "site_lbl": "Ser89" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "site_lbl": "Ser91" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31.", "journal": "EMBO J.", "date": "1999", "authors": "Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "10202156", "url": "https://glygen.org/publication/PubMed/10202156" } ] }, { "title": "Interaction with members of the heterochromatin protein 1 (HP1) family and histone deacetylation are differentially involved in transcriptional silencing by members of the TIF1 family.", "journal": "EMBO J.", "date": "1999", "authors": "Ortiz J.A., You J., Oulad-Abdelghani M., Chambon P., Losson R., Nielsen A.L., Gansmuller A., Khechumian R.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "10562550", "url": "https://glygen.org/publication/PubMed/10562550" } ] }, { "title": "The structure of mouse HP1 suggests a unique mode of single peptide recognition by the shadow chromo domain dimer.", "journal": "EMBO J.", "date": "2000", "authors": "Brasher SV, Smith BO, Fogh RH, Nietlispach D, Thiru A, Nielsen PR, Broadhurst RW, Ball LJ, Murzina NV, Laue ED", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "10747027", "url": "https://glygen.org/publication/PubMed/10747027" } ] }, { "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "Histones H3/H4 form a tight complex with the inner nuclear membrane protein LBR and heterochromatin protein 1.", "journal": "EMBO Rep.", "date": "2001", "authors": "Singh P.B., Giannakouros T., Bakou A., Drosou V., Georgatos S.D., Kourmouli N., Polioudaki H., Theodoropoulos P.A.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "11571267", "url": "https://glygen.org/publication/PubMed/11571267" } ] }, { "title": "Structure of the HP1 chromodomain bound to histone H3 methylated at lysine 9.", "journal": "Nature", "date": "2002", "authors": "Callaghan J., Laue E.D., Mott H.R., Nietlispach D., Kouzarides T., Nielsen P.R., Bannister A., Murzina N.V., Murzin A.G.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "11882902", "url": "https://glygen.org/publication/PubMed/11882902" } ] }, { "title": "Structural basis of HP1/PXVXL motif peptide interactions and HP1 localisation to heterochromatin.", "journal": "EMBO J.", "date": "2004", "authors": "Lyon D., Laue E.D., Mott H.R., Nietlispach D., Nielsen P.R., Verreault A., Okuwaki M., Murzina N.V., Hirshberg M., Thiru A.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "14765118", "url": "https://glygen.org/publication/PubMed/14765118" } ] }, { "title": "A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin.", "journal": "Genes Dev.", "date": "2004", "authors": "Schotta G, Lachner M, Sarma K, Ebert A, Sengupta R, Reuter G, Reinberg D, Jenuwein T", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "15145825", "url": "https://glygen.org/publication/PubMed/15145825" } ] }, { "title": "PRISM/PRDM6, a transcriptional repressor that promotes the proliferative gene program in smooth muscle cells.", "journal": "Mol. Cell. Biol.", "date": "2006", "authors": "Davis CA, Haberland M, Arnold MA, Sutherland LB, McDonald OG, Richardson JA, Childs G, Harris S, Owens GK, Olson EN", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "16537907", "url": "https://glygen.org/publication/PubMed/16537907" } ] }, { "title": "A sequence motif found in a Drosophila heterochromatin protein is conserved in animals and plants.", "journal": "Nucleic Acids Res.", "date": "1991", "authors": "Miller J.R., Singh P.B., Burton R.D., Gaunt S.J., Pearce J., Kothary R., James T.C., Paro R.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "1708124", "url": "https://glygen.org/publication/PubMed/1708124" } ] }, { "title": "Role of HP1beta during spermatogenesis and DNA replication.", "journal": "Chromosoma", "date": "2020", "authors": "Charaka V, Tiwari A, Pandita RK, Hunt CR, Pandita TK", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" } ], "reference": [ { "type": "PubMed", "id": "32651609", "url": "https://glygen.org/publication/PubMed/32651609" } ] }, { "title": "Phosphorylation of the HP1beta hinge region sequesters KAP1 in heterochromatin and promotes the exit from naive pluripotency.", "journal": "Nucleic acids research", "date": "2021", "authors": "Qin W, Ugur E, Mulholland CB, Bultmann S, Solovei I, Modic M, Smets M, Wierer M, Forne I, Imhof A, Cardoso MC, Leonhardt H", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" } ], "reference": [ { "type": "PubMed", "id": "34214177", "url": "https://glygen.org/publication/PubMed/34214177" } ] }, { "title": "Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2023-07", "authors": "Kuroda Yukiko, Iwata-Otsubo Aiko, Dias Kerith-Rae, Temple Suzanna E L, Nagao Koji, De Hayr Lachlan, Zhu Ying, Isobe Shin-Ya, Nishibuchi Gohei, Fiordaliso Sarah K, Fujita Yuki, Rippert Alyssa L, Baker Samuel W, Leung Marco L, Koboldt Daniel C, Harman Adele, Keena Beth A, Kazama Izumi, Subramanian Gopinath Musuwadi, Manickam Kandamurugu, Schmalz Betsy, Latsko Maeson, Zackai Elaine H, Edwards Matt, Evans Carey-Anne, Dulik Matthew C, Buckley Michael F, Yamashita Toshihide, O'Brien W Timothy, Harvey Robert J, Obuse Chikashi, Roscioli Tony, Izumi Kosuke", "evidence": [ { "database": "RefSeq", "id": "NP_031648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031648" } ], "reference": [ { "type": "PubMed", "id": "37087635", "url": "https://glygen.org/publication/PubMed/37087635" } ] }, { "title": "A possible involvement of TIF1 alpha and TIF1 beta in the epigenetic control of transcription by nuclear receptors.", "journal": "EMBO J.", "date": "1996", "authors": "Le Douarin B, Nielsen AL, Garnier JM, Ichinose H, Jeanmougin F, Losson R, Chambon P", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "8978696", "url": "https://glygen.org/publication/PubMed/8978696" } ] }, { "title": "Structure of the chromatin binding (chromo) domain from mouse modifier protein 1.", "journal": "EMBO J.", "date": "1997", "authors": "Laue E.D., Ball L.J., Stott F.J., Singh P.B., Domaille P.J., Broadhurst R.W., Murzina N.V., Murzin A.G., Archer S.J., Raine A.R.", "evidence": [ { "database": "UniProtKB", "id": "P83917", "url": "https://www.uniprot.org/uniprot/P83917" } ], "reference": [ { "type": "PubMed", "id": "9171360", "url": "https://glygen.org/publication/PubMed/9171360" } ] } ], "pathway": [ { "id": "mmu:12412", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12412", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZM96-1", "protein_name": "Chromobox 1", "gene_name": "Cbx1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSDGGKRKADSDSEDKGEESKPKKKKEEALPIWFLQSEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN", "length": 193 }, "evidence": [ { "id": "45232766", "url": "http://www.informatics.jax.org/homology/45232766", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P83916-1", "protein_name": "Chromobox protein homolog 1", "gene_name": "CBX1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN", "length": 185 }, "evidence": [ { "id": "45232766", "url": 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