{ "uniprot_canonical_ac": "P78364-1", "uniprot_ac": "P78364", "uniprot_id": "PHC1_HUMAN", "mass": { "chemical_mass": 105534.0, "monoisotopic_mass": 105534.0 }, "refseq": { "ac": "NP_004417", "name": "polyhomeotic-like protein 1 isoform a", "summary": "This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417" }, "gene_names": [ { "name": "PHC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P78364", "id": "P78364" }, { "name": "EDR1; HPH1; MCPH11; RAE28", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417", "id": "NP_004417" }, { "name": "EDR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P78364", "id": "P78364" }, { "name": "PH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P78364", "id": "P78364" }, { "name": "PHC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417", "id": "NP_004417" } ], "protein_names": [ { "name": "Polyhomeotic-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P78364" }, { "name": "Early development regulatory protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P78364" }, { "name": "early development regulator 1 (homolog of polyhomeotic 1); early development regulatory protein 1; polyhomeotic-like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417", "id": "NP_004417" }, { "name": "hPH1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P78364" }, { "name": "polyhomeotic-like protein 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417", "id": "NP_004417" } ], "function": [ { "annotation": "Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression.", "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364#function" }, { "database": "PubMed", "id": "23418308", "url": "https://glygen.org/publication/PubMed/23418308" } ] }, { "annotation": "PHC1 maintains pluripotency by organizing genome-wide chromatin interactions of the Nanog locus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417" }, { "database": "PubMed", "id": "33990559", "url": "https://glygen.org/publication/PubMed/33990559" } ] }, { "annotation": "This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417" } ] } ], "disease": [ { "disease_id": "DOID:0070287", "recommended_name": { "id": "DOID:0070287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070287", "name": "primary autosomal recessive microcephaly 11", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0070287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070287", "name": "MCPH11", "description": "" }, { "id": "MONDO:0014173", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014173", "name": "microcephaly 11, primary, autosomal recessive", "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." }, { "id": "MONDO:0014173", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014173", "name": "PHC1 autosomal recessive primary microcephaly", "description": "" }, { "id": "MONDO:0014173", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014173", "name": "autosomal recessive primary microcephaly caused by mutation in PHC1", "description": "" }, { "id": "MONDO:0014173", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014173", "name": "microcephaly 11, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0014173", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014173", "name": "MCPH11", "description": "" }, { "id": "MIM:615414", "resource": "MIM", "url": "https://www.omim.org/entry/615414", "name": "Microcephaly 11, primary, autosomal recessive", "description": "Microcephaly 11, primary, autosomal recessive" } ], "evidence": [ { "id": "615414", "database": "MIM", "url": "https://www.omim.org/entry/615414" } ] } ], "snv": [ { "evidence": [ { "id": "rs148027974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148027974" }, { "id": "rs148027974", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148027974" }, { "id": "rs148027974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148027974" }, { "id": "rs148027974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148027974#frequency_tab" }, { "id": "rs148027974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148027974" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 10, "end_pos": 10, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "12", "chr_pos": "8917706", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773027150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773027150" }, { "id": "rs773027150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773027150" }, { "id": "rs773027150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773027150" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "12", "chr_pos": "8921638", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P78364", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P78364" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "8921641", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R116", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", 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"" }, { "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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", "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", 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"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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P78364", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P78364" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364" } ], "common_name": "Human" } ], "gene": [ { "name": "PHC1", "url": "https://www.uniprot.org/uniprot/P78364", "locus": { "chromosome": "12", "start_pos": 8941467, "end_pos": 8913896, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000111752", "url": "https://www.ensembl.org/id/ENSG00000111752" } ] } } ], "crossref": [ { "id": "ENSG00000111752", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111752", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P78364", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P78364", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd09577", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09577", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PHC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "1911", "url": "https://www.ncbi.nlm.nih.gov/gene/1911", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3182", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3182", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "J3KQH6", "url": "https://www.ebi.ac.uk/intact/interactors/id:J3KQH6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P78364", "url": "https://www.ebi.ac.uk/intact/interactors/id:P78364*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001660", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001660", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012313", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012313", "database": "InterPro", 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"Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16616", "url": "http://pfam.xfam.org/family/PF16616", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P78364", "url": "https://pharos.nih.gov/targets/P78364", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P78364", "url": "http://purl.obolibrary.org/obo/PR_P78364", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3899300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3899300", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4551638", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4551638", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4570464", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4570464", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4655427", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4655427", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004417", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F5GZP4", "url": "https://www.uniprot.org/uniprot/F5GZP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZP4-1", "url": "https://www.uniprot.org/uniprot/F5GZP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0T9", "url": "https://www.uniprot.org/uniprot/F5H0T9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0T9-1", "url": "https://www.uniprot.org/uniprot/F5H0T9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6F5", "url": "https://www.uniprot.org/uniprot/F5H6F5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6F5-1", "url": "https://www.uniprot.org/uniprot/F5H6F5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6F9", "url": "https://www.uniprot.org/uniprot/F5H6F9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6F9-1", "url": "https://www.uniprot.org/uniprot/F5H6F9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6P9", "url": "https://www.uniprot.org/uniprot/F5H6P9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H6P9-1", "url": "https://www.uniprot.org/uniprot/F5H6P9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGK7", "url": "https://www.uniprot.org/uniprot/H0YGK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGK7-1", "url": "https://www.uniprot.org/uniprot/H0YGK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGZ1", "url": "https://www.uniprot.org/uniprot/H0YGZ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGZ1-1", "url": "https://www.uniprot.org/uniprot/H0YGZ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH74", "url": "https://www.uniprot.org/uniprot/H0YH74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH74-1", "url": "https://www.uniprot.org/uniprot/H0YH74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQH6", "url": "https://www.uniprot.org/uniprot/J3KQH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KQH6-1", "url": "https://www.uniprot.org/uniprot/J3KQH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P78364-1", "url": "https://www.uniprot.org/uniprot/P78364-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPLASQLILMPNGAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSLSQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMGGGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPAPSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATHLQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSSPLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQAQALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQGTAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMGDSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGGPLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRKKMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPGPLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAEEFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET", "length": 1004, "header": "sp|P78364-1|PHC1_HUMAN Isoform 1 of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=3 CANONICAL=P78364-1" }, "isoforms": [ { "isoform_ac": "F5GZP4-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQSSRRCHLLSLLEFMQMQIRFRTWQ", "length": 184, "header": "tr|F5GZP4-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8930450, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540574.5", "url": "https://www.ensembl.org/id/ENST00000540574.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444308.1", "url": "https://www.ensembl.org/id/ENSP00000444308.1" } ] } }, { "isoform_ac": "F5H0T9-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQVRGQQPAGPRGRGQALQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPP", "length": 158, "header": "tr|F5H0T9-1|F5H0T9_HUMAN Computationally mapped isoform of Polyhomeotic homolog 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8921717, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541181.1", "url": "https://www.ensembl.org/id/ENST00000541181.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445939.1", "url": "https://www.ensembl.org/id/ENSP00000445939.1" } ] } }, { "isoform_ac": "F5H6F5-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPL", "length": 171, "header": "tr|F5H6F5-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=8 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8922689, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538657.5", "url": "https://www.ensembl.org/id/ENST00000538657.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437654.1", "url": "https://www.ensembl.org/id/ENSP00000437654.1" } ] } }, { "isoform_ac": "F5H6F9-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRLGNLLQVNRTLGRNVPLASQLILMPNG", "length": 179, "header": "tr|F5H6F9-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8922719, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544539.5", "url": "https://www.ensembl.org/id/ENST00000544539.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437645.1", "url": "https://www.ensembl.org/id/ENSP00000437645.1" } ] } }, { "isoform_ac": "F5H6P9-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASVNRTLGRNVPLASQLILMPNGAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSL", "length": 182, "header": "tr|F5H6P9-1|F5H6P9_HUMAN Computationally mapped isoform of Polyhomeotic homolog 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=8 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8930542, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539063.5", "url": "https://www.ensembl.org/id/ENST00000539063.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437459.1", "url": "https://www.ensembl.org/id/ENSP00000437459.1" } ] } }, { "isoform_ac": "H0YGK7-1", "url": "", "sequence": { "sequence": "XISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATHLQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQECPPTLAPGMTLAPVQGTAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDEK", "length": 187, "header": "tr|H0YGK7-1|H0YGK7_HUMAN Computationally mapped isoform of Polyhomeotic homolog 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8934000, "end_pos": 8930916, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537610.1", "url": "https://www.ensembl.org/id/ENST00000537610.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443676.1", "url": "https://www.ensembl.org/id/ENSP00000443676.1" } ] } }, { "isoform_ac": "H0YGZ1-1", "url": "", "sequence": { "sequence": "XFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMGDSKPPQAIVKPQILTHIIEGFVIQEGAEPFPS", "length": 131, "header": "tr|H0YGZ1-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8936859, "end_pos": 8933322, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535510.1", "url": "https://www.ensembl.org/id/ENST00000535510.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445307.1", "url": "https://www.ensembl.org/id/ENSP00000445307.1" } ] } }, { "isoform_ac": "H0YH74-1", "url": "", "sequence": { "sequence": "VPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSLSQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGEVGFF", "length": 99, "header": "tr|H0YH74-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8939884, "end_pos": 8922744, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542346.1", "url": "https://www.ensembl.org/id/ENST00000542346.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446388.1", "url": "https://www.ensembl.org/id/ENSP00000446388.1" } ] } }, { "isoform_ac": "J3KQH6-1", "url": "", "sequence": { "sequence": "METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRVNRTLGRNVPLASQLILMPNGAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSLSQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMGGGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPAPSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATHLQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSSPLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQAQALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQGTAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMGDSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGGPLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRKKMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPGPLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAEEFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET", "length": 959, "header": "tr|J3KQH6-1|PHC1_HUMAN Computationally mapped isoform of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=1 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8939456, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433083.6", "url": "https://www.ensembl.org/id/ENST00000433083.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399194.2", "url": "https://www.ensembl.org/id/ENSP00000399194.2" } ] } }, { "isoform_ac": "P78364-1", "url": "", "sequence": { "sequence": 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"length": 1004, "header": "sp|P78364-1|PHC1_HUMAN Isoform 1 of Polyhomeotic-like protein 1 OS=Homo sapiens OX=9606 GN=PHC1 PE=1 SV=3 CANONICAL=P78364-1" }, "locus": { "chromosome": "12", "start_pos": 8939456, "end_pos": 8917678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543824.5", "url": "https://www.ensembl.org/id/ENST00000543824.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440674.1", "url": "https://www.ensembl.org/id/ENSP00000440674.1" } ] } } ], "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": 320, "start_aa": "Thr", "end_pos": 320, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr320", "evidence": [ { "id": "P78364", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P78364" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 322, "start_aa": "Thr", "end_pos": 322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr322", "evidence": [ { "id": "P78364", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P78364" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 324, "start_aa": "Ser", "end_pos": 324, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser324", "evidence": [ { "id": "P78364", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P78364" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P78364", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P78364" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 554, "start_aa": "Thr", "end_pos": 554, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr554", "evidence": [ { "id": "P78364", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P78364" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P78364", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P78364" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 555, "start_aa": "Ser", "end_pos": 555, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser555", "evidence": [ { "id": "P78364", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P78364" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P78364", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P78364" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "phosphorylation": [ { "start_pos": 32, "end_pos": 32, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P78364", "url": "http://phospho.elm.eu.org/byAccession/P78364.html" } ], "site_lbl": "Tyr32" }, { "start_pos": 645, "end_pos": 645, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" } ], "site_lbl": "Ser645" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser653" }, { "start_pos": 657, "end_pos": 657, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser657" }, { "start_pos": 664, "end_pos": 664, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser664" }, { "start_pos": 669, "end_pos": 669, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser669" }, { "start_pos": 786, "end_pos": 786, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser786" }, { "start_pos": 898, "end_pos": 898, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser898" }, { "start_pos": 922, "end_pos": 922, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P78364", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P78364" } ], "site_lbl": "Thr922" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Oligomerization is required for p53 to be efficiently ubiquitinated by MDM2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Maki CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10347217", "url": "https://glygen.org/publication/PubMed/10347217" } ] }, { "title": "Cell cycle regulation of PML modification and ND10 composition.", "journal": "Journal of cell science", "date": "1999", "authors": "Everett RD, Lomonte P, Sternsdorf T, van Driel R, Orr A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3108214", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3108214" } ], "reference": [ { "type": "PubMed", "id": "10574707", "url": "https://glygen.org/publication/PubMed/10574707" } ] }, { "title": "Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself and p53.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Fang S, Jensen JP, Ludwig RL, Vousden KH, Weissman AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10722742", "url": "https://glygen.org/publication/PubMed/10722742" } ] }, { "title": "Immunolocalization of human p14(ARF) to the granular component of the interphase nucleolus.", "journal": "Experimental cell research", "date": "2000", "authors": "Lindstrom MS, Klangby U, Inoue R, Pisa P, Wiman KG, Asker CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "10772813", "url": "https://glygen.org/publication/PubMed/10772813" } ] }, { "title": "c-Jun inhibits transforming growth factor beta-mediated transcription by repressing Smad3 transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Dennler S, Prunier C, Ferrand N, Gauthier JM, Atfi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": 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"authors": "Ben-Levy R, Leighton IA, Doza YN, Attwood P, Morrice N, Marshall CJ, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8846784", "url": "https://glygen.org/publication/PubMed/8846784" } ] }, { "title": "Induction of apoptosis by ASK1, a mammalian MAPKKK that activates SAPK/JNK and p38 signaling pathways.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Ichijo H, Nishida E, Irie K, ten Dijke P, Saitoh M, Moriguchi T, Takagi M, Matsumoto K, Miyazono K, Gotoh Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "8974401", "url": "https://glygen.org/publication/PubMed/8974401" } ] }, { "title": "Regulatory mechanisms involved in activator-protein-1 (AP-1)-mediated activation of glutathione-S-transferase 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Cell. Biol.", "date": "1997", "authors": "Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP", "evidence": [ { "database": "UniProtKB", "id": "P78364", "url": "https://www.uniprot.org/uniprot/P78364" } ], "reference": [ { "type": "PubMed", "id": "9121482", "url": "https://glygen.org/publication/PubMed/9121482" } ] }, { "title": "Characterization of the mitogen-activated protein kinase kinase 4 (MKK4)/c-Jun NH2-terminal kinase 1 and MKK3/p38 pathways regulated by MEK kinases 2 and 3. MEK kinase 3 activates MKK3 but does not cause activation of p38 kinase in vivo.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Deacon K, Blank JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2559580" } ], "reference": [ { "type": "PubMed", "id": "9162092", "url": "https://glygen.org/publication/PubMed/9162092" } ] }, { "title": "A novel mechanism of JNK1 activation. 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