{ "uniprot_canonical_ac": "A8MW92-1", "uniprot_ac": "A8MW92", "uniprot_id": "P20L1_HUMAN", "mass": { "chemical_mass": 115010.0, "monoisotopic_mass": 115010.0 }, "refseq": { "ac": "NP_057102", "name": "PHD finger protein 20-like protein 1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, "gene_names": [ { "name": "PHF20L1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MW92", "id": "A8MW92" }, { "name": "CGI-72; TDRD20B; URLC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102", "id": "NP_057102" }, { "name": "CGI-72", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MW92", "id": "A8MW92" }, { "name": "PHF20L1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102", "id": "NP_057102" } ], "protein_names": [ { "name": "PHD finger protein 20-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MW92" }, { "name": "PHD finger protein 20-like protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102", "id": "NP_057102" }, { "name": "PHD finger protein 20-like protein 1; tudor domain-containing protein PHF20L1; tudor domain containing 20B; up-regulated in lung cancer 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102", "id": "NP_057102" } ], "function": [ { "annotation": "An insight into the promoter methylation of PHF20L1 and the gene association with metastasis in breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "33847474", "url": "https://glygen.org/publication/PubMed/33847474" } ] }, { "annotation": "Associates with SOX2, antagonizes SOX2 ubiquitination and the sequential degradation induced by the MLL1/WDR5 complexes", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "30089852", "url": "https://glygen.org/publication/PubMed/30089852" } ] }, { "annotation": "Authors find that the interplay between PHF20L1 and mono-methyl pRb is important for maintaining the integrity of a pRb-dependent G1-S-phase checkpoint. Results highlight the distinct roles that methyl-lysine readers have in regulating the biological activity of pRb.", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "28841214", "url": "https://glygen.org/publication/PubMed/28841214" } ] }, { "annotation": "Data suggest that, in human ovarian teratocarcinoma cell line, methylation-dependent proteolysis of SOX2 is controlled by LSD1 and PHF20L1 via regulation of SET7 activity; these data are consistent with previous studies in mouse primary stem cells. (SOX2 = SRY-box 2 transcription factor; LSD1 = lysine demethylase-1A; PHF20L1 = PHD finger protein 20 like-1; SET7 = histone-lysine N-methyltransferase SETD7)", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "29358331", "url": "https://glygen.org/publication/PubMed/29358331" } ] }, { "annotation": "Is a negative regulator of proteasomal degradation of a set of methylated proteins, including DNMT1 and SOX2 (PubMed:24492612, PubMed:29358331). Involved in the maintainance of embryonic stem cells pluripotency, through the regulation of SOX2 levels (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A8MW92", "url": "https://www.uniprot.org/uniprot/A8MW92#function" }, { "database": "UniProtKB", "id": "Q8CCJ9", "url": "https://www.uniprot.org/uniprot/Q8CCJ9#function" }, { "database": "PubMed", "id": "24492612", "url": "https://glygen.org/publication/PubMed/24492612" }, { "database": "PubMed", "id": "29358331", "url": "https://glygen.org/publication/PubMed/29358331" } ] }, { "annotation": "Malignant brain tumor domain of PHF20L1 reads and controls enzyme levels of methylated DNMT1 in cells, thus representing a novel antagonist of DNMT1 degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "24492612", "url": "https://glygen.org/publication/PubMed/24492612" } ] }, { "annotation": "PHF20L1 as a H3K27me2 reader coordinates with transcriptional repressors to promote breast tumorigenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "32494608", "url": "https://glygen.org/publication/PubMed/32494608" } ] }, { "annotation": "PHF20L1 mediates PAX2 expression to promote angiogenesis and liver metastasis in colorectal cancer through regulating HIC1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "35357096", "url": "https://glygen.org/publication/PubMed/35357096" } ] }, { "annotation": "Results demonstrated the oncogenic potential of PHF20L1 and its association with poor prognostic parameters in breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" }, { "database": "PubMed", "id": "26588862", "url": "https://glygen.org/publication/PubMed/26588862" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129292", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129292" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A8MW92", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MW92" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8MW92", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MW92" } ], "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": "" }, { 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"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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A8MW92", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MW92" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MUE8", "url": "https://www.uniprot.org/uniprot/A8MUE8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MUE8-1", "url": "https://www.uniprot.org/uniprot/A8MUE8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MW92", "url": "https://www.uniprot.org/uniprot/A8MW92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MW92-1", "url": "https://www.uniprot.org/uniprot/A8MW92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MW92-2", "url": "https://www.uniprot.org/uniprot/A8MW92-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MW92-4", "url": "https://www.uniprot.org/uniprot/A8MW92-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MXR8", "url": "https://www.uniprot.org/uniprot/A8MXR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MXR8-1", "url": "https://www.uniprot.org/uniprot/A8MXR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK91", "url": "https://www.uniprot.org/uniprot/E5RK91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK91-1", "url": "https://www.uniprot.org/uniprot/E5RK91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM57", "url": "https://www.uniprot.org/uniprot/E9PM57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM57-1", "url": "https://www.uniprot.org/uniprot/E9PM57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9L8", "url": "https://www.uniprot.org/uniprot/F8W9L8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W9L8-1", "url": "https://www.uniprot.org/uniprot/F8W9L8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC05", "url": "https://www.uniprot.org/uniprot/H0YC05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC05-1", "url": "https://www.uniprot.org/uniprot/H0YC05-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDF7", "url": "https://www.uniprot.org/uniprot/H0YDF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDF7-1", "url": "https://www.uniprot.org/uniprot/H0YDF7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSPLTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQYICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYGVTEVLHGLQLKIGILKNKHHPDLHLWACSGKRKDQDQIIAGVEKKIAQDTVNREEKKYVQNHKEPPRLPLKMEGTYITSEHSYQKPQSFGQDCKSLADPGSSDDDDVSSLEEEQEFHMRSKNSLQYSAKEHGMPEKNPAEGNTVFVYNDKKGTEDPGDSHLQWQLNLLTHIENVQNEVTSRMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLIDMGKVQQIATLCSV", "length": 1017, "header": "sp|A8MW92-1|P20L1_HUMAN Isoform 1 of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=2 CANONICAL=A8MW92-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MQS0-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSPLTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQYICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYGVTEVLHGLQLKIGILKNKHHPDLHLWACSGKRKDQDQIIAGVEKKIAQDTVNREEKKYVQNHKEPPRLPLKMEGTYITSEHSYQKPQSFGQDCKSLADPGSSDDDDVSSLEEEQEFHMRSKNSLQYSAKEHGMPEKNPAEGNTVFVYNDKKGTEDPGDSHLQWQLNLLTHIENVQNEVTSRMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLIDMGKVQQIATLCSV", "length": 991, "header": "tr|A0A0A0MQS0-1|A0A0A0MQS0_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132845920, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000220847.8", "url": "https://www.ensembl.org/id/ENST00000220847.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000220847.8", "url": "https://www.ensembl.org/id/ENSP00000220847.8" } ] } }, { "isoform_ac": "A0A0D9SG14-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVRVFSIPSYPKGYLLER", "length": 160, "header": "tr|A0A0D9SG14-1|A0A0D9SG14_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132798911, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000485595.5", "url": "https://www.ensembl.org/id/ENST00000485595.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000487068.1", "url": "https://www.ensembl.org/id/ENSP00000487068.1" } ] } }, { "isoform_ac": "A8MUE8-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQV", "length": 311, "header": "tr|A8MUE8-1|P20L1_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132811131, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395379.5", "url": "https://www.ensembl.org/id/ENST00000395379.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378777.1", "url": "https://www.ensembl.org/id/ENSP00000378777.1" } ] } }, { "isoform_ac": "A8MW92-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSPLTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQYICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYGVTEVLHGLQLKIGILKNKHHPDLHLWACSGKRKDQDQIIAGVEKKIAQDTVNREEKKYVQNHKEPPRLPLKMEGTYITSEHSYQKPQSFGQDCKSLADPGSSDDDDVSSLEEEQEFHMRSKNSLQYSAKEHGMPEKNPAEGNTVFVYNDKKGTEDPGDSHLQWQLNLLTHIENVQNEVTSRMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLIDMGKVQQIATLCSV", "length": 1017, "header": "sp|A8MW92-1|P20L1_HUMAN Isoform 1 of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=2 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132845920, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395386.7", "url": "https://www.ensembl.org/id/ENST00000395386.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000378784.2", "url": "https://www.ensembl.org/id/ENSP00000378784.2" } ] } }, { "isoform_ac": "A8MW92-2", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQV", "length": 285, "header": "sp|A8MW92-2|P20L1_HUMAN Isoform 2 of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=2 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132811131, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337920.8", "url": "https://www.ensembl.org/id/ENST00000337920.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000338269.4", "url": "https://www.ensembl.org/id/ENSP00000338269.4" } ] } }, { "isoform_ac": "A8MW92-4", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGIRSWDFSALLMKIPSYSPISLSGLPES", "length": 573, "header": "sp|A8MW92-4|P20L1_HUMAN Isoform 4 of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=2 CANONICAL=A8MW92-1" }, "locus": {} }, { "isoform_ac": "A8MXR8-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQFLFQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFVGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQV", "length": 316, "header": "tr|A8MXR8-1|P20L1_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132811131, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395376.5", "url": "https://www.ensembl.org/id/ENST00000395376.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378775.1", "url": "https://www.ensembl.org/id/ENSP00000378775.1" } ] } }, { "isoform_ac": "E5RK91-1", "url": "", "sequence": { "sequence": "MLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCL", "length": 86, "header": "tr|E5RK91-1|P20L1_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132798815, "end_pos": 132794453, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522580.5", "url": "https://www.ensembl.org/id/ENST00000522580.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428091.1", "url": "https://www.ensembl.org/id/ENSP00000428091.1" } ] } }, { "isoform_ac": "E9PM57-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGRDQLCIL", "length": 264, "header": "tr|E9PM57-1|P20L1_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132807745, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486199.5", "url": "https://www.ensembl.org/id/ENST00000486199.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433125.1", "url": "https://www.ensembl.org/id/ENSP00000433125.1" } ] } }, { "isoform_ac": "F8W9L8-1", "url": "", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPALRKEGLKDEEDFFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFVGLHVENVPKMVFPQPESTLSNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDYNETAPMLEQAISPKPQSQKKNEADISSSANTQKPALLSSTLSSGKARSKKCKHESGDSSGCIKPPKSPLSPELIQVEDLTLVSQLSSSVINKTSPPQPVNPPRPFKHSERRRRSQRLATLPMPDDSVEKVSSPSPATDGKVFSISSQNQQESSVPEVPDVAHLPLEKLGPCLPLDLSRGSEVTAPVASDSSYRNECPRAEKEDTQMLPNPSSKAIADGRGAPAAAGISKTEKKVKLEDKSSTAFGKRKEKDKERREKRDKDHYRPKQKKKKKKKKKSKQHDYSDYEDSSLEFLERCSSPLTRSSGSSLASRSMFTEKTTTYQYPRAILSVDLSGENLSDVDFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICEMDEENGFMIQCEECLCWQHSVCMGLLEESIPEQYICYICRDPPGQRWSAKYRYDKEWLNNGRMCGLSFFKENYSHLNAKKIVSTHHLLADVYGVTEVLHGLQLKIGILKNKHHPDLHLWACSGKRKDQDQIIAGVEKKIAQDTVNREEKKYVQNHKEPPRLPLKMEGTYITSEHSYQKPQSFGQDCKSLADPGSSDDDDVSSLEEEQEFHMRSKNSLQYSAKEHGMPEKNPAEGNTVFVYNDKKGTEDPGDSHLQWQLNLLTHIENVQNEVTSRMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLIDMGKVQQIATLCSV", "length": 992, "header": "tr|F8W9L8-1|F8W9L8_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132845920, "end_pos": 132777829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395390.6", "url": "https://www.ensembl.org/id/ENST00000395390.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000378788.2", "url": "https://www.ensembl.org/id/ENSP00000378788.2" } ] } }, { "isoform_ac": "H0YC05-1", "url": "", "sequence": { "sequence": "XMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKDKDKDERKWFKVPSKKEETSTCIATPDVEKKEDLPTSSETFDKLSYMCSVESRTSCRERSKDGLSTAREHIIKQEEK", "length": 112, "header": "tr|H0YC05-1|P20L1_HUMAN Computationally mapped isoform of PHD finger protein 20-like protein 1 OS=Homo sapiens OX=9606 GN=PHF20L1 PE=1 SV=1 CANONICAL=A8MW92-1" }, "locus": { "chromosome": "8", "start_pos": 132804688, "end_pos": 132799159, "strand": "-", 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"Yokoyama Akihiko, Kitabayashi Issay, Ayton Paul M, Cleary Michael L, Ohki Misao", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12393701", "url": "https://glygen.org/publication/PubMed/12393701" } ] }, { "title": "Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Hsieh JJ, Ernst P, Erdjument-Bromage H, Tempst P, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12482972", "url": "https://glygen.org/publication/PubMed/12482972" } ] }, { "title": "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.", "journal": "Genes & development", "date": "2003", "authors": "Wysocka J, Myers MP, Laherty CD, Eisenman RN, Herr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" } ] }, { "title": "Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression.", "journal": "Cell", "date": "2003", "authors": "Hsieh JJ, Cheng EH, Korsmeyer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14636557", "url": "https://glygen.org/publication/PubMed/14636557" } ] }, { "title": "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.", "journal": "Molecular cell", "date": "2004", "authors": "Hughes CM, Rozenblatt-Rosen O, Milne TA, Copeland TD, Levine SS, Lee JC, Hayes DN, Shanmugam KS, Bhattacharjee A, Biondi CA, Kay GF, Hayward NK, Hess JL, Meyerson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "14992727", "url": "https://glygen.org/publication/PubMed/14992727" } ] }, { "title": "Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Yokoyama A, Wang Z, Wysocka J, Sanyal M, Aufiero DJ, Kitabayashi I, Herr W, Cleary ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "15199122", "url": "https://glygen.org/publication/PubMed/15199122" } ] }, { "title": "A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Smith ER, Cayrou C, Huang R, Lane WS, Cote J, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16227571", "url": "https://glygen.org/publication/PubMed/16227571" } ] }, { "title": "The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis.", "journal": "Cell", "date": "2005-10-21", "authors": "Yokoyama Akihiko, Somervaille Tim C P, Smith Kevin S, Rozenblatt-Rosen Orit, Meyerson Matthew, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16239140", "url": "https://glygen.org/publication/PubMed/16239140" } ] }, { "title": "Histone H3 recognition and presentation by the WDR5 module of the MLL1 complex.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Ruthenburg Alexander J, Wang Wooikoon, Graybosch Daina M, Li Haitao, Allis C David, Patel Dinshaw J, Verdine Gregory L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16829959", "url": "https://glygen.org/publication/PubMed/16829959" } ] }, { "title": "Regulation of MLL1 H3K4 methyltransferase activity by its core components.", "journal": "Nature structural & molecular biology", "date": "2006-08", "authors": "Dou Yali, Milne Thomas A, Ruthenburg Alexander J, Lee Seunghee, Lee Jae Woon, Verdine Gregory L, Allis C David, Roeder Robert G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16878130", "url": "https://glygen.org/publication/PubMed/16878130" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by ASH2L, a shared subunit of MLL complexes.", "journal": "Nature structural & molecular biology", "date": "2006-09", "authors": "Steward Melissa M, Lee Jung-Shin, O'Donovan Aisling, Wyatt Matt, Bernstein Bradley E, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "16892064", "url": "https://glygen.org/publication/PubMed/16892064" } ] }, { "title": "Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2007-05-04", "authors": "Lee Jeong-Heon, Tate Courtney M, You Jin-Sam, Skalnik David G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17355966", "url": "https://glygen.org/publication/PubMed/17355966" } ] }, { "title": "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17500065", "url": "https://glygen.org/publication/PubMed/17500065" } ] }, { "title": "E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases.", "journal": "Molecular cell", "date": "2007-07-06", "authors": "Tyagi Shweta, Chabes Anna Lena, Wysocka Joanna, Herr Winship", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17612494", "url": "https://glygen.org/publication/PubMed/17612494" } ] }, { "title": "Interaction of MLL amino terminal sequences with menin is required for transformation.", "journal": "Cancer research", "date": "2007-08-01", "authors": "Caslini Corrado, Yang Zhaohai, El-Osta Mohamad, Milne Thomas A, Slany Robert K, Hess Jay L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17671196", "url": "https://glygen.org/publication/PubMed/17671196" } ] }, { "title": "The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex.", "journal": "Developmental cell", "date": "2007-10", "authors": "Patel Sanjeevkumar R, Kim Doyeob, Levitan Inna, Dressler Gregory R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17925232", "url": "https://glygen.org/publication/PubMed/17925232" } ] }, { "title": "Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Lee JH, Skalnik DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "17998332", "url": "https://glygen.org/publication/PubMed/17998332" } ] }, { "title": "Menin critically links MLL proteins with LEDGF on cancer-associated target genes.", "journal": "Cancer cell", "date": "2008-07-08", "authors": "Yokoyama Akihiko, Cleary Michael L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18598942", "url": "https://glygen.org/publication/PubMed/18598942" } ] }, { "title": "A conserved arginine-containing motif crucial for the assembly and enzymatic activity of the mixed lineage leukemia protein-1 core complex.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Vought Valarie E, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829457", "url": "https://glygen.org/publication/PubMed/18829457" } ] }, { "title": "Structure of WDR5 bound to mixed lineage leukemia protein-1 peptide.", "journal": "The Journal of biological chemistry", "date": "2008-11-21", "authors": "Patel Anamika, Dharmarajan Venkatasubramanian, Cosgrove Michael S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18829459", "url": "https://glygen.org/publication/PubMed/18829459" } ] }, { "title": "Human ATAC Is a GCN5/PCAF-containing acetylase complex with a novel NC2-like histone fold module that interacts with the TATA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Wang YL, Faiola F, Xu M, Pan S, Martinez E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838386", "url": "https://glygen.org/publication/PubMed/18838386" } ] }, { "title": "Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.", "journal": "Molecular and cellular biology", "date": "2008-12", "authors": "Wu Min, Wang Peng Fei, Lee Jung Shin, Martin-Brown Skylar, Florens Laurence, Washburn Michael, Shilatifard Ali", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "18838538", "url": "https://glygen.org/publication/PubMed/18838538" } ] }, { "title": "The double-histone-acetyltransferase complex ATAC is essential for mammalian development.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Guelman S, Kozuka K, Mao Y, Pham V, Solloway MJ, Wang J, Wu J, Lill JR, Zha J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19103755", "url": "https://glygen.org/publication/PubMed/19103755" } ] }, { "title": "Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Gong Z, Cho YW, Kim JE, Ge K, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19124460", "url": "https://glygen.org/publication/PubMed/19124460" } ] }, { "title": "Structural basis for the requirement of additional factors for MLL1 SET domain activity and recognition of epigenetic marks.", "journal": "Molecular cell", "date": "2009", "authors": "Southall SM, Wong PS, Odho Z, Roe SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19187761", "url": "https://glygen.org/publication/PubMed/19187761" } ] }, { "title": "On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Patel A, Dharmarajan V, Vought VE, Cosgrove MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "19556245", "url": "https://glygen.org/publication/PubMed/19556245" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "A8MW92", "url": "https://www.uniprot.org/uniprot/A8MW92" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Cai Y, Jin J, Swanson SK, Cole MD, Choi SH, Florens L, Washburn MP, Conaway JW, Conaway RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20018852", "url": "https://glygen.org/publication/PubMed/20018852" } ] }, { "title": "Analysis of the binding of mixed lineage leukemia 1 (MLL1) and histone 3 peptides to WD repeat domain 5 (WDR5) for the design of inhibitors of the MLL1-WDR5 interaction.", "journal": "Journal of medicinal chemistry", "date": "2010-07-22", "authors": "Karatas Hacer, Townsend Elizabeth C, Bernard Denzil, Dou Yali, Wang Shaomeng", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20575550", "url": "https://glygen.org/publication/PubMed/20575550" } ] }, { "title": "Characterization of a novel WDR5-binding site that recruits RbBP5 through a conserved motif to enhance methylation of histone H3 lysine 4 by mixed lineage leukemia protein-1.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Odho Z, Southall SM, Wilson JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "20716525", "url": "https://glygen.org/publication/PubMed/20716525" } ] }, { "title": "Molecular basis of the mixed lineage leukemia-menin interaction: implications for targeting mixed lineage leukemias.", "journal": "The Journal of biological chemistry", "date": "2010-12-24", "authors": "Grembecka Jolanta, Belcher Amalia M, Hartley Thomas, Cierpicki Tomasz", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": 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communications", "date": "2022-02-21", "authors": "Mayse Lauren Ashley, Imran Ali, Larimi Motahareh Ghahari, Cosgrove Michael S, Wolfe Aaron James, Movileanu Liviu", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "35190547", "url": "https://glygen.org/publication/PubMed/35190547" } ] }, { "title": "PHF20L1 mediates PAX2 expression to promote angiogenesis and liver metastasis in colorectal cancer through regulating HIC1.", "journal": "Biological chemistry", "date": "2022", "authors": "Zhu QC, Sun JH, Liang MJ, Zhang ZY, Xia Y", "evidence": [ { "database": "RefSeq", "id": "NP_057102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057102" } ], "reference": [ { "type": "PubMed", "id": "35357096", "url": "https://glygen.org/publication/PubMed/35357096" } ] }, { "title": "H3K4 methylation by SETD1A/BOD1L facilitates RIF1-dependent NHEJ.", "journal": "Molecular cell", "date": "2022-05-19", "authors": "Bayley Rachel, Borel Valerie, Moss Rhiannon J, Sweatman Ellie, Ruis Philip, Ormrod Alice, Goula Amalia, Mottram Rachel M A, Stanage Tyler, Hewitt Graeme, Saponaro Marco, Stewart Grant S, Boulton Simon J, Higgs Martin R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9772755", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755" } ], "reference": [ { "type": "PubMed", "id": "35439434", "url": "https://glygen.org/publication/PubMed/35439434" } ] } ], "pathway": [ { "id": "hsa:51105", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51105", "resource": "KEGG Pathway" }, { "id": "R-HSA-9772755", "name": "Formation of WDR5-containing histone-modifying complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755", "resource": "Reactome", "description": "Formation of WDR5-containing histone-modifying complexes" } ], "orthologs": [ { "uniprot_canonical_ac": "Q4V9H5-1", "protein_name": "PHD finger protein 20-like protein 1", "gene_name": "Phf20l1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSKKPPNRPGITFEIGARLEALDYLQKWYPSRIEKIDYEEGKMLVHFERWSHRYDEWIYWDSNRLRPLERPSLRKEGLKDEEDLFDFKAGEEVLARWTDCRYYPAKIEAINKEGTFTVQFYDGVIRCLKRMHIKAMPEDAKGQVKSQHPLSWCCPIDPAGSCNQSMGSEDWIALVKAAAAAAAKNKTGSKPRTSANSNKEKERDGGKWFKVPSKKAETSTCIVTAEIEKKEELPTSSEPFGLHIDSVPKIVFPQPESTLTNKRKNNQGNSFQAKRARLNKITGLLASKAVGVDGAEKKEDCSATAPVLEQAISPKPQSQKKNEAVISSSANTQKPALLSSTLSSGKARSKKCKHESGESSGCIKAPKSPLAPELIQAKDLTLVSQLSSVINKTSSPQPVNPPRPCKHSERRRRSQRLATLPMPDDSLEKLSSSSSATDGKVFSISSQNQQESSVPEVPAIAYVPLQKLGPCLPLDLSCGSEVTGSQAPDSSYPGGECPREEKEETPLFANPTSKVVSDVKGAAAATGILKTEKKVKLEEKTSTAFGKRKEKDKERKEKRDKDHYKPKQKKKKKKKKKSKQHDYSDYEDSSLDFLERCSSPLTRSSGSSLAPRSTFTEKTTTYQYPRAILSVDLSGENLSDVEFLDDSSTESLLLSGDEYNQDFDSTNFEESQDEDDALNEIVRCICELDEENGFMIQCEECLCWQHSVCMGLLEDSIPEQYICYICRDPPGQRWNAKYRYDKEWLNNGRMYGLSFVKENYSHLNAKKIVSTHHLLADVYGITEVLHGLQLKIGILKNKHHPDLRLWAYSGKRKDQDQVVAGAERKVILQDTANSEGRKYVQNHKEPPLKMEETYITSEHSYQKPQSFSQDCHSLTDPGSSDDDDVSSFEEDGELHVADNSHLLYSVKERGVSEKNPASENKVFVYNDKKGMEGPGDAHLQWQLNLLTHIENVQNEVTSRMDLIEKEVDVLESWLDFTGELEPPDPLARLPQLKRHIKQLLLDMGKVQQIATLCSV", 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"url": "https://www.uniprot.org/uniprot/A8MW92" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "methylation-dependent protein binding", "id": "GO:0140034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140034", "evidence": [ { "database": "UniProtKB", "id": "A8MW92", "url": "https://www.uniprot.org/uniprot/A8MW92" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A8MW92", "url": "https://www.uniprot.org/uniprot/A8MW92" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 163, "end_pos": 165, "annotation": "n_glycosylation_sequon" }, { "start_pos": 185, "end_pos": 187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 302, "end_pos": 304, "annotation": "n_glycosylation_sequon" }, { "start_pos": 392, "end_pos": 394, "annotation": "n_glycosylation_sequon" }, { "start_pos": 637, 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