{ "uniprot_canonical_ac": "O15084-3", "uniprot_ac": "O15084", "uniprot_id": "ANR28_HUMAN", "mass": { "chemical_mass": 112966.0, "monoisotopic_mass": 112966.0 }, "refseq": { "ac": "NP_001182027", "name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, "gene_names": [ { "name": "ANKRD28", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15084", "id": "O15084" }, { "name": "ANKRD28", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "id": "NP_001182027" }, { "name": "CFAP79; FAP79; PITK; PPP1R65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "id": "NP_001182027" }, { "name": "KIAA0379", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15084", "id": "O15084" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15084" }, { "name": "Ankyrin repeat domain-containing protein 28", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15084" }, { "name": "PITK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15084" }, { "name": "PP6-ARS-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15084" }, { "name": "Phosphatase interactor targeting protein hnRNP K", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15084" }, { "name": "Serine/threonine-protein phosphatase 6 regulatory subunit ARS-A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15084" }, { "name": "protein phosphatase 6 ankyrin repeat subunit A; phosphatase interactor targeting K protein; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; PP6-ARS-A; ankyrin repeat domain-containing protein 28; phosphatase interactor targeting protein hnRNP K; serine/threonine-protein phosphatase 6 regulatory subunit ARS-A; protein phosphatase 1, regulatory subunit 65", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "id": "NP_001182027" }, { "name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "id": "NP_001182027" } ], "function": [ { "annotation": "CaMKII and GSK3 mediate regulation of PITK.", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "PubMed", "id": "17023142", "url": "https://glygen.org/publication/PubMed/17023142" } ] }, { "annotation": "CircANKRD28 inhibits cisplatin resistance in non-small-cell lung cancer through the miR-221-3p/SOCS3 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "PubMed", "id": "36740786", "url": "https://glygen.org/publication/PubMed/36740786" } ] }, { "annotation": "Findings suggest that BRCA1 is a novel modulator of PP6 signalling via its interaction with ANKRD28.", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "PubMed", "id": "27026398", "url": "https://glygen.org/publication/PubMed/27026398" } ] }, { "annotation": "HPV16 infection and over-expression of hnRNP K protein were associated with the increased risk of cervical intraepithelial neoplasia. There might be interaction between hnRNP K protein overexpression and HPV16 infection existed on the progress of CIN/ [ cervical intraepithelial neoplasia II/III].", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "PubMed", "id": "30572391", "url": "https://glygen.org/publication/PubMed/30572391" } ] }, { "annotation": "Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084#function" }, { "database": "PubMed", "id": "18186651", "url": "https://glygen.org/publication/PubMed/18186651" }, { "database": "PubMed", "id": "16564677", "url": "https://glygen.org/publication/PubMed/16564677" } ] }, { "annotation": "These findings provide a putative mechanism by which transcriptional activity of hnRNP K can be discretely controlled through the regulation of PP1 activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "PubMed", "id": "16564677", "url": "https://glygen.org/publication/PubMed/16564677" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs778103052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778103052" }, { "id": "rs778103052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778103052" }, { "id": "rs778103052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778103052" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 169, "end_pos": 169, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAF->NAS).", "chr_id": "3", "chr_pos": "15735454", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs565056573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565056573" }, { "id": "rs565056573", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565056573" }, { "id": "rs565056573", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565056573" }, { "id": "rs565056573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565056573" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 235, "end_pos": 235, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "3", "chr_pos": "15721118", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "P235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766735079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766735079" }, { "id": "rs766735079", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766735079" }, { "id": "rs766735079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766735079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 342, "end_pos": 342, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "3", "chr_pos": "15713603", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15084", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15084" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 617, "end_pos": 617, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "3", "chr_pos": "15690041", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K617", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in 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"site_lbl": "D853", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { 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"DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 1007, "end_pos": 1011, "sequence_org": "SKTVS", "sequence_mut": "AKTVA", "comment": "Marked decrease in phosphorylation. Increased PPP1C-binding. No effect on HNRPK-binding.", "evidence": [ { "database": "UniProtKB", "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084" }, { "database": "PubMed", "id": "16564677", "url": "https://glygen.org/publication/PubMed/16564677" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15084" } ], "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 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"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", 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"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", 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}, { "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15084" } ], "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15084" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15084" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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, 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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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084" } ], "common_name": "Human" } ], "gene": [ { "name": "ANKRD28", "url": "https://www.uniprot.org/uniprot/O15084", "locus": { "chromosome": "3", "start_pos": 15667236, "end_pos": 15859771, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000206560", "url": "https://www.ensembl.org/id/ENSG00000206560" } ] } } ], "crossref": [ { "id": "ENSG00000206560", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000206560", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15084", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL4105921", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4105921", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ANKRD28", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD28", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23243", "url": "https://www.ncbi.nlm.nih.gov/gene/23243", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29024", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29024", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15084", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15084*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036770", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036770", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23243", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23243", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "611122", "url": "http://www.omim.org/entry/611122", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15084", "url": "https://www.nextprot.org/entry/NX_O15084", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15084", "url": "https://oglcnac.org/atlas/detail/O15084", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15084", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15084", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YNGHLEM", "url": "https://omabrowser.org/oma/group/YNGHLEM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5474520at2759", "url": "http://www.orthodb.org/?query=5474520at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24123", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24123", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24123:SF33", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24123:SF33", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00023", "url": "http://pfam.xfam.org/family/PF00023", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12796", "url": "http://pfam.xfam.org/family/PF12796", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13637", "url": "http://pfam.xfam.org/family/PF13637", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15084", "url": "https://pharos.nih.gov/targets/O15084", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15084", "url": "http://purl.obolibrary.org/obo/PR_O15084", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15084-1", "url": "https://www.uniprot.org/uniprot/O15084-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15084-2", "url": "https://www.uniprot.org/uniprot/O15084-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15084-3", "url": "https://www.uniprot.org/uniprot/O15084-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15084-4", "url": "https://www.uniprot.org/uniprot/O15084-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAFLKLRDQPSLVQAIFNGDPDEVRALIFKKEDVNFQDNEKRTPLHAAAYLGDAEIIELLILSGARVNAKDSKWLTPLHRAVASCSEEAVQVLLKHSADVNARDKNWQTPLHIAAANKAVKCAEALVPLLSNVNVSDRAGRTALHHAAFSGHGEMVKLLLSRGANINAFDKKDRRAIHWAAYMGHIEVVKLLVSHGAEVTCKDKKSYTPLHAAASSGMISVVKYLLDLGVDMNEPNAYGNTPLHVACYNGQDVVVNELIDCGAIVNQKNEKGFTPLHFAAASTHGALCLELLVGNGADVNMKSKDGKTPLHMTALHGRFSRSQTIIQSGAVIDCEDKNGNTPLHIAARYGHELLINTLITSGADTAKRGIHGMFPLHLAALSGFSDCCRKLLSSGFDIDTPDDFGRTCLHAAAAGGNLECLNLLLNTGADFNKKDKFGRSPLHYAAANCNYQCLFALVGSGASVNDLDERGCTPLHYAATSDTDGKCLEYLLRNDANPGIRDKQGYNAVHYSAAYGHRLCLQLIASETPLDVLMETSGTDMLSDSDNRATISPLHLAAYHGHHQALEVLVQSLLDLDVRNSSGRTPLDLAAFKGHVECVDVLINQGASILVKDYILKRTPIHAAATNGHSECLRLLIGNAEPQNAVDIQDGNGQTPLMLSVLNGHTDCVYSLLNKGANVDAKDKWGRTALHRGAVTGHEECVDALLQHGAKCLLRDSRGRTPIHLSAACGHIGVLGALLQSAASMDANPATADNHGYTALHWACYNGHETCVELLLEQEVFQKTEGNAFSPLHCAVINDNEGAAEMLIDTLGASIVNATDSKGRTPLHAAAFTDHVECLQLLLSHNAQVNSVDSTGKTPLMMAAENGQTNTVEMLVSSASAELTLQDNSKNTALHLACSKGHETSALLILEKITDRNLINATNAALQTPLHVAARNGLTMVVQELLGKGASVLAVDENGYTPALACAPNKDVADCLALILATMMPVSSSSPLSSLTFNAINRYTNTSKTVSFEALPIMRNEPSSYCSFNNIGGEQEYLYTDVDELNDSDSETY", "length": 1053, "header": "sp|O15084-3|ANR28_HUMAN Isoform 3 of Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A OS=Homo sapiens OX=9606 GN=ANKRD28 PE=1 SV=5 CANONICAL=O15084-3" }, "isoforms": [ { "isoform_ac": "O15084-1", "url": "", "sequence": { "sequence": "MSRVCIVVLEEVEDESPAFISKLPQENKSLHSPPSGNVLVRYPSLVQAIFNGDPDEVRALIFKKEDVNFQDNEKRTPLHAAAYLGDAEIIELLILSGARVNAKDSKWLTPLHRAVASCSEEAVQVLLKHSADVNARDKNWQTPLHIAAANKAVKCAEALVPLLSNVNVSDRAGRTALHHAAFSGHGEMVKLLLSRGANINAFDKKDRRAIHWAAYMGHIEVVKLLVSHGAEVTCKDKKSYTPLHAAASSGMISVVKYLLDLGVDMNEPNAYGNTPLHVACYNGQDVVVNELIDCGAIVNQKNEKGFTPLHFAAASTHGALCLELLVGNGADVNMKSKDGKTPLHMTALHGRFSRSQTIIQSGAVIDCEDKNGNTPLHIAARYGHELLINTLITSGADTAKRGIHGMFPLHLAALSGFSDCCRKLLSSGFDIDTPDDFGRTCLHAAAAGGNLECLNLLLNTGADFNKKDKFGRSPLHYAAANCNYQCLFALVGSGASVNDLDERGCTPLHYAATSDTDGKCLEYLLRNDANPGIRDKQGYNAVHYSAAYGHRLCLQLIASETPLDVLMETSGTDMLSDSDNRATISPLHLAAYHGHHQALEVLVQSLLDLDVRNSSGRTPLDLAAFKGHVECVDVLINQGASILVKDYILKRTPIHAAATNGHSECLRLLIGNAEPQNAVDIQDGNGQTPLMLSVLNGHTDCVYSLLNKGANVDAKDKWGRTALHRGAVTGHEECVDALLQHGAKCLLRDSRGRTPIHLSAACGHIGVLGALLQSAASMDANPATADNHGYTALHWACYNGHETCVELLLEQEVFQKTEGNAFSPLHCAVINDNEGAAEMLIDTLGASIVNATDSKGRTPLHAAAFTDHVECLQLLLSHNAQVNSVDSTGKTPLMMAAENGQTNTVEMLVSSASAELTLQDNSKNTALHLACSKGHETSALLILEKITDRNLINATNAALQTPLHVAARNGLTMVVQELLGKGASVLAVDENGYTPALACAPNKDVADCLALILATMMPVSSSSPLSSLTFNAINRYTNTSKTVSFEALPIMRNEPSSYCSFNNIGGEQEYLYTDVDELNDSDSETY", "length": 1086, "header": "sp|O15084-1|ANR28_HUMAN Isoform 1 of Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A OS=Homo sapiens OX=9606 GN=ANKRD28 PE=1 SV=5 CANONICAL=O15084-3" }, "locus": {} }, { "isoform_ac": "O15084-2", "url": "", "sequence": { "sequence": "MVKLLLSRGANINAFDKKDRRAIHWAAYMGHIEVVKLLVSHGAEVTCKDKKSYTPLHAAASSGMISVVKYLLDLGVDMNEPNAYGNTPLHVACYNGQDVVVNELIDCGAIVNQKNEKGFTPLHFAAASTHGALCLELLVGNGADVNMKSKDGKTPLHMTALHGRFSRSQTIIQSGAVIDCEDKNGNTPLHIAARYGHELLINTLITSGADTAKRGIHGMFPLHLAALSGFSDCCRKLLSSGFDIDTPDDFGRTCLHAAAAGGNLECLNLLLNTGADFNKKDKFGRSPLHYAAANCNYQCLFALVGSGASVNDLDERGCTPLHYAATSDTDGKCLEYLLRNDANPGIRDKQGYNAVHYSAAYGHRLCLQLIASETPLDVLMETSGTDMLSDSDNRATISPLHLAAYHGHHQALEVLVQSLLDLDVRNSSGRTPLDLAAFKGHVECVDVLINQGASILVKDYILKRTPIHAAATNGHSECLRLLIGNAEPQNAVDIQDGNGQTPLMLSVLNGHTDCVYSLLNKGANVDAKDKWGRTALHRGAVTGHEECVDALLQHGAKCLLRDSRGRTPIHLSAACGHIGVLGALLQSAASMDANPATADNHGYTALHWACYNGHETCVELLLEQEVFQKTEGNAFSPLHCAVINDNEGAAEMLIDTLGASIVNATDSKGRTPLHAAAFTDHVECLQLLLSHNAQVNSVDSTGKTPLMMAAENGQTNTVEMLVSSASAELTLQDNSKNTALHLACSKGHETSALLILEKITDRNLINATNAALQTPLHVAARNGLTMVVQELLGKGASVLAVDENGYTPALACAPNKDVADCLALILATMMPVSSSSPLSSLTFNAINRYTNTSKTVSFEALPIMRNEPSSYCSFNNIGGEQEYLYTDVDELNDSDSETY", "length": 899, "header": "sp|O15084-2|ANR28_HUMAN Isoform 2 of Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A OS=Homo sapiens OX=9606 GN=ANKRD28 PE=1 SV=5 CANONICAL=O15084-3" }, "locus": { "chromosome": "3", "start_pos": 15735497, "end_pos": 15670273, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000624145.3", "url": "https://www.ensembl.org/id/ENST00000624145.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000485421.1", "url": "https://www.ensembl.org/id/ENSP00000485421.1" } ] } }, { "isoform_ac": "O15084-3", "url": "", "sequence": { "sequence": "MAFLKLRDQPSLVQAIFNGDPDEVRALIFKKEDVNFQDNEKRTPLHAAAYLGDAEIIELLILSGARVNAKDSKWLTPLHRAVASCSEEAVQVLLKHSADVNARDKNWQTPLHIAAANKAVKCAEALVPLLSNVNVSDRAGRTALHHAAFSGHGEMVKLLLSRGANINAFDKKDRRAIHWAAYMGHIEVVKLLVSHGAEVTCKDKKSYTPLHAAASSGMISVVKYLLDLGVDMNEPNAYGNTPLHVACYNGQDVVVNELIDCGAIVNQKNEKGFTPLHFAAASTHGALCLELLVGNGADVNMKSKDGKTPLHMTALHGRFSRSQTIIQSGAVIDCEDKNGNTPLHIAARYGHELLINTLITSGADTAKRGIHGMFPLHLAALSGFSDCCRKLLSSGFDIDTPDDFGRTCLHAAAAGGNLECLNLLLNTGADFNKKDKFGRSPLHYAAANCNYQCLFALVGSGASVNDLDERGCTPLHYAATSDTDGKCLEYLLRNDANPGIRDKQGYNAVHYSAAYGHRLCLQLIASETPLDVLMETSGTDMLSDSDNRATISPLHLAAYHGHHQALEVLVQSLLDLDVRNSSGRTPLDLAAFKGHVECVDVLINQGASILVKDYILKRTPIHAAATNGHSECLRLLIGNAEPQNAVDIQDGNGQTPLMLSVLNGHTDCVYSLLNKGANVDAKDKWGRTALHRGAVTGHEECVDALLQHGAKCLLRDSRGRTPIHLSAACGHIGVLGALLQSAASMDANPATADNHGYTALHWACYNGHETCVELLLEQEVFQKTEGNAFSPLHCAVINDNEGAAEMLIDTLGASIVNATDSKGRTPLHAAAFTDHVECLQLLLSHNAQVNSVDSTGKTPLMMAAENGQTNTVEMLVSSASAELTLQDNSKNTALHLACSKGHETSALLILEKITDRNLINATNAALQTPLHVAARNGLTMVVQELLGKGASVLAVDENGYTPALACAPNKDVADCLALILATMMPVSSSSPLSSLTFNAINRYTNTSKTVSFEALPIMRNEPSSYCSFNNIGGEQEYLYTDVDELNDSDSETY", "length": 1053, "header": "sp|O15084-3|ANR28_HUMAN Isoform 3 of Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A OS=Homo sapiens OX=9606 GN=ANKRD28 PE=1 SV=5 CANONICAL=O15084-3" }, "locus": { "chromosome": "3", "start_pos": 15859403, "end_pos": 15670273, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399451.6", "url": "https://www.ensembl.org/id/ENST00000399451.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000382379.2", "url": "https://www.ensembl.org/id/ENSP00000382379.2" } ] } }, { "isoform_ac": "O15084-4", "url": "", "sequence": { "sequence": "MSRVCIVVLEEVEDESPAFISKLPQENKSLHSPPSGNVLPSLVQAIFNGDPDEVRALIFKKEDVNFQDNEKRTPLHAAAYLGDAEIIELLILSGARVNAKDSKWLTPLHRAVASCSEEAVQVLLKHSADVNARDKNWQTPLHIAAANKAVKCAEALVPLLSNVNVSDRAGRTALHHAAFSGHGEMVKLLLSRGANINAFDKKDRRAIHWAAYMGHIEVVKLLVSHGAEVTCKDKKSYTPLHAAASSGMISVVKYLLDLGVDMNEPNAYGNTPLHVACYNGQDVVVNELIDCGAIVNQKNEKGFTPLHFAAASTHGALCLELLVGNGADVNMKSKDGKTPLHMTALHGRFSRSQTIIQSGAVIDCEDKNGNTPLHIAARYGHELLINTLITSGADTAKRGIHGMFPLHLAALSGFSDCCRKLLSSGFDIDTPDDFGRTCLHAAAAGGNLECLNLLLNTGADFNKKDKFGRSPLHYAAANCNYQCLFALVGSGASVNDLDERGCTPLHYAATSDTDGKCLEYLLRNDANPGIRDKQGYNAVHYSAAYGHRLCLQLIASETPLDVLMETSGTDMLSDSDNRATISPLHLAAYHGHHQALEVLVQSLLDLDVRNSSGRTPLDLAAFKGHVECVDVLINQGASILVKDYILKRTPIHAAATNGHSECLRLLIGNAEPQNAVDIQDGNGQTPLMLSVLNGHTDCVYSLLNKGANVDAKDKWGRTALHRGAVTGHEECVDALLQHGAKCLLRDSRGRTPIHLSAACGHIGVLGALLQSAASMDANPATADNHGYTALHWACYNGHETCVELLLEQEVFQKTEGNAFSPLHCAVINDNEGAAEMLIDTLGASIVNATDSKGRTPLHAAAFTDHVECLQLLLSHNAQVNSVDSTGKTPLMMAAENGQTNTVEMLVSSASAELTLQDNSKNTALHLACSKGHETSALLILEKITDRNLINATNAALQTPLHVAARNGLTMVVQELLGKGASVLAVDENGYTPALACAPNKDVADCLALILATMMPVSSSSPLSSLTFNAINRYTNTSKTVSFEALPIMRNEPSSYCSFNNIGGEQEYLYTDVDELNDSDSETY", "length": 1083, "header": "sp|O15084-4|ANR28_HUMAN Isoform 4 of Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A OS=Homo sapiens OX=9606 GN=ANKRD28 PE=1 SV=5 CANONICAL=O15084-3" }, "locus": { "chromosome": "3", "start_pos": 15796521, "end_pos": 15670273, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683139.1", "url": "https://www.ensembl.org/id/ENST00000683139.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508086.1", "url": "https://www.ensembl.org/id/ENSP00000508086.1" } ] } } ], "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": 1009, "start_aa": "Thr", "end_pos": 1009, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1009", "evidence": [ { "id": "O15084", "database": "O-GlcNAc Database", "url": 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"Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Asymmetric requirements for a Rab GTPase and SNARE proteins in fusion of COPII vesicles with acceptor membranes.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Cao X, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10747087", "url": "https://glygen.org/publication/PubMed/10747087" } ] }, { "title": "COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.", "journal": "Journal of cell science", "date": "2000", "authors": "Stephens DJ, Lin-Marq N, Pagano A, Pepperkok R, Paccaud JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10825291", "url": "https://glygen.org/publication/PubMed/10825291" } ] }, { "title": "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Allan BB, Moyer BD, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10903204", "url": "https://glygen.org/publication/PubMed/10903204" } ] }, { "title": "Dynamics of transitional endoplasmic reticulum sites in vertebrate cells.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Hammond AT, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10982397", "url": "https://glygen.org/publication/PubMed/10982397" } ] }, { "title": "Subunit structure of a mammalian ER/Golgi SNARE complex.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Xu D, Joglekar AP, Williams AL, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11035026", "url": "https://glygen.org/publication/PubMed/11035026" } ] }, { "title": "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Moyer BD, Allan BB, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11285137", "url": "https://glygen.org/publication/PubMed/11285137" } ] }, { "title": "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.", "journal": "EMBO reports", "date": "2001", "authors": "Weide T, Bayer M, Koster M, Siebrasse JP, Peters R, Barnekow A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11306556", "url": "https://glygen.org/publication/PubMed/11306556" } ] }, { "title": "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11927603", "url": "https://glygen.org/publication/PubMed/11927603" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "Sec16p potentiates the action of COPII proteins to bud transport vesicles.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Supek F, Madden DT, Hamamoto S, Orci L, Schekman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12235121", "url": "https://glygen.org/publication/PubMed/12235121" } ] }, { "title": "Functional conservation of the telomerase protein Est1p in humans.", "journal": "Current biology : CB", "date": "2003", "authors": "Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO, Harrington L", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "12699629", "url": "https://glygen.org/publication/PubMed/12699629" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Armbruster BN, Linardic CM, Veldman T, Bansal NP, Downie DL, Counter CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "15060173", "url": "https://glygen.org/publication/PubMed/15060173" } ] }, { "title": "Regulation of telomerase by telomeric proteins.", "journal": "Annual review of biochemistry", "date": "2004", "authors": "Smogorzewska A, de Lange T", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "15189140", "url": "https://glygen.org/publication/PubMed/15189140" } ] }, { "title": "Cysteine-disulfide cross-linking to monitor SNARE complex assembly during endoplasmic reticulum-Golgi transport.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Flanagan JJ, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16303754", "url": "https://glygen.org/publication/PubMed/16303754" } ] }, { "title": "Cell cycle-regulated trafficking of human telomerase to telomeres.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Tomlinson RL, Ziegler TD, Supakorndej T, Terns RM, Terns MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "16339074", "url": "https://glygen.org/publication/PubMed/16339074" } ] }, { "title": "The human Pif1 helicase, a potential Escherichia coli RecD homologue, inhibits telomerase activity.", "journal": "Nucleic acids research", "date": "2006", "authors": "Zhang DH, Zhou B, Huang Y, Xu LX, Zhou JQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "16522649", "url": "https://glygen.org/publication/PubMed/16522649" } ] }, { "title": "PITK, a PP1 targeting subunit that modulates the phosphorylation of the transcriptional regulator hnRNP K.", "journal": "Cellular signalling", "date": "2006", "authors": "Kwiek NC, Thacker DF, Datto MB, Megosh HB, Haystead TA", "evidence": [ { "database": "UniProtKB", "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084" }, { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" }, { "database": "iPTMnet", "id": "O15084", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15084" } ], "reference": [ { "type": "PubMed", "id": "16564677", "url": "https://glygen.org/publication/PubMed/16564677" } ] }, { "title": "On and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivo.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Brandon E, Szul T, Alvarez C, Grabski R, Benjamin R, Kawai R, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16624868", "url": "https://glygen.org/publication/PubMed/16624868" } ] }, { "title": "SNAREs--engines for membrane fusion.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "Jahn R, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16912714", "url": "https://glygen.org/publication/PubMed/16912714" } ] }, { "title": "Sec16 defines endoplasmic reticulum exit sites and is required for secretory cargo export in mammalian cells.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2006", "authors": "Watson P, Townley AK, Koka P, Palmer KJ, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17005010", "url": "https://glygen.org/publication/PubMed/17005010" } ] }, { "title": "Dual kinase-mediated regulation of PITK by CaMKII and GSK3.", "journal": "Cellular signalling", "date": "2007", "authors": "Kwiek NC, Thacker DF, Haystead TA", "evidence": [ { "database": "RefSeq", "id": "NP_001182027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182027" } ], "reference": [ { "type": "PubMed", "id": "17023142", "url": "https://glygen.org/publication/PubMed/17023142" } ] }, { "title": "SNARE status regulates tether recruitment and function in homotypic COPII vesicle fusion.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bentley M, Liang Y, Mullen K, Xu D, Sztul E, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17038314", "url": "https://glygen.org/publication/PubMed/17038314" } ] }, { "title": "Human PIF helicase is cell cycle regulated and associates with telomerase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2006", "authors": "Mateyak MK, Zakian VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "17172855", "url": "https://glygen.org/publication/PubMed/17172855" } ] }, { "title": "Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Bhattacharyya D, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17192411", "url": "https://glygen.org/publication/PubMed/17192411" } ] }, { "title": "TRAPPI tethers COPII vesicles by binding the coat subunit Sec23.", "journal": "Nature", "date": "2007", "authors": "Cai H, Yu S, Menon S, Cai Y, Lazarova D, Fu C, Reinisch K, Hay JC, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": 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"https://glygen.org/publication/PubMed/17395830" } ] }, { "title": "Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fuchs E, Haas AK, Spooner RA, Yoshimura S, Lord JM, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17562788", "url": "https://glygen.org/publication/PubMed/17562788" } ] }, { "title": "Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells.", "journal": "Journal of cell science", "date": "2007", "authors": "Haas AK, Yoshimura S, Stephens DJ, Preisinger C, Fuchs E, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17684057", "url": "https://glygen.org/publication/PubMed/17684057" } ] }, { "title": "Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains.", "journal": "Biochemistry", "date": "2008", "authors": "Stefansson B, Ohama T, Daugherty AE, Brautigan DL", "evidence": [ { "database": "UniProtKB", "id": "O15084", "url": "https://www.uniprot.org/uniprot/O15084" } ], "reference": [ { "type": "PubMed", "id": "18186651", "url": "https://glygen.org/publication/PubMed/18186651" } ] }, { "title": "Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.", "journal": "Cell", "date": "2008", "authors": "Venteicher AS, Meng Z, Mason PJ, Veenstra TD, Artandi SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "18358808", "url": "https://glygen.org/publication/PubMed/18358808" } ] }, { "title": "Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I", "evidence": [ { "database": "Reactome", "id": "R-HSA-171319", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319" } ], "reference": [ { "type": "PubMed", "id": "18523010", "url": "https://glygen.org/publication/PubMed/18523010" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O15084-3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15084-3" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": 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