{ "uniprot_canonical_ac": "P28799-1", "uniprot_ac": "P28799", "uniprot_id": "GRN_HUMAN", "mass": { "chemical_mass": 63544.0, "monoisotopic_mass": 63544.0 }, "refseq": { "ac": "NP_002078", "name": "progranulin precursor", "summary": "Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" }, "gene_names": [ { "name": "GRN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P28799", "id": "P28799" }, { "name": "CLN11; GEP; GP88; PCDGF; PEPI; PGRN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "id": "NP_002078" }, { "name": "GRN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "id": "NP_002078" } ], "protein_names": [ { "name": "Progranulin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P28799" }, { "name": "Acrogranin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Epithelin precursor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Epithelin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Epithelin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "GP88", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Glycoprotein 88", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Glycoprotein of 88 Kda", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin G", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Granulin precursor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "PC cell-derived growth factor; progranulin; proepithelin; acrogranin; granulin-epithelin; granulins; glycoprotein 88; glycoprotein of 88 Kda", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "id": "NP_002078" }, { "name": "PC cell-derived growth factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "PCDGF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "PEPI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "PGRN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "Proepithelin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28799" }, { "name": "progranulin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "id": "NP_002078" } ], "function": [ { "annotation": "Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" } ] }, { "annotation": "HiPSC-derived GRN-deficient astrocytes delay spiking activity of developing neurons.", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" }, { "database": "PubMed", "id": "37054899", "url": "https://glygen.org/publication/PubMed/37054899" } ] }, { "annotation": "Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#function" }, { "database": "PubMed", "id": "12526812", "url": "https://glygen.org/publication/PubMed/12526812" } ] }, { "annotation": "Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" }, { "database": "PubMed", "id": "37118844", "url": "https://glygen.org/publication/PubMed/37118844" } ] }, { "annotation": "Promotes proliferation of the epithelial cell line A431 in culture.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#function" } ] }, { "annotation": "Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:28541286, PubMed:28073925, PubMed:18378771, PubMed:28453791, PubMed:12526812). Regulates protein trafficking to lysosomes and, also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neurons by preserving neurons survival, axonal outgrowth and neuronal integrity (PubMed:18378771).", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#function" }, { "database": "PubMed", "id": "28541286", "url": "https://glygen.org/publication/PubMed/28541286" }, { "database": "PubMed", "id": "12526812", "url": "https://glygen.org/publication/PubMed/12526812" }, { "database": "PubMed", "id": "28453791", "url": "https://glygen.org/publication/PubMed/28453791" }, { "database": "UniProtKB", "id": "P28798", "url": "https://www.uniprot.org/uniprot/P28798#function" }, { "database": "PubMed", "id": "28073925", "url": "https://glygen.org/publication/PubMed/28073925" }, { "database": "PubMed", "id": "18378771", "url": "https://glygen.org/publication/PubMed/18378771" } ] }, { "annotation": "Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#function" }, { "database": "PubMed", "id": "28453791", "url": "https://glygen.org/publication/PubMed/28453791" } ] }, { "annotation": "The Role of Progranulin (PGRN) in the Pathogenesis of Ischemic Stroke. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" }, { "database": "PubMed", "id": "37561339", "url": "https://glygen.org/publication/PubMed/37561339" } ] }, { "annotation": "This revealed a selective repression of progranulin translation and a reduction of mRNA levels by the 219-nucleotide-long 5' UTR.", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" }, { "database": "PubMed", "id": "25056957", "url": "https://glygen.org/publication/PubMed/25056957" } ] } ], "disease": [ { "disease_id": "DOID:0060672", "recommended_name": { "id": "DOID:0060672", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060672", "name": "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31." }, "synonyms": [ { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "FTLD-TDP, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "aphasia, primary progressive", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "dementia, hereditary dysphasic disinhibition", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal dementia with TDP43 inclusions, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal dementia, ubiquitin-positive", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal lobar degeneration with ubiquitin-positive inclusions", "description": "" }, { "id": "MIM:607485", "resource": "MIM", "url": "https://www.omim.org/entry/607485", "name": "Ubiquitin-positive frontotemporal dementia", "description": "Ubiquitin-positive frontotemporal dementia" } ], "evidence": [ { "id": "607485", "database": "MIM", "url": "https://www.omim.org/entry/607485" } ] }, { "disease_id": "DOID:0110732", "recommended_name": { "id": "DOID:0110732", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110732", "name": "neuronal ceroid lipofuscinosis 11", "description": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q." }, "synonyms": [ { "id": "DOID:0110732", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110732", "name": "CLN11", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "neuronal ceroid lipofuscinosis 11", "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "CLN11", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "GRN neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "Grn neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "ceroid lipofuscinosis, neuronal, type 11", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "neuronal ceroid lipofuscinosis caused by mutation in GRN", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "neuronal ceroid lipofuscinosis caused by mutation in Grn", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "neuronal ceroid lipofuscinosis type 11", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "CLN11 disease", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "ceroid lipofuscinosis, neuronal, 11", "description": "" }, { "id": "MIM:614706", "resource": "MIM", "url": "https://www.omim.org/entry/614706", "name": "Ceroid lipofuscinosis, neuronal, 11", "description": "Ceroid lipofuscinosis, neuronal, 11" } ], "evidence": [ { "id": "614706", "database": "MIM", "url": "https://www.omim.org/entry/614706" } ] } ], "snv": [ { "evidence": [ { "id": "rs1294692955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294692955" }, { "id": "rs1294692955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294692955" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 532, "end_pos": 532, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQN); o-glyco-site-loss (T->N).", "chr_id": "17", "chr_pos": "44352522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1598366195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598366195" }, { "id": "rs1598366195", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1598366195" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 532, "end_pos": 532, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQP); o-glyco-site-loss (T->P).", "chr_id": "17", "chr_pos": "44352521", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777551318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777551318" }, { "id": "rs777551318", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777551318" }, { "id": "rs777551318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777551318" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "17", "chr_pos": "44350231", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1416441889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1416441889" }, { "id": "rs1416441889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1416441889" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNG).", "chr_id": "17", "chr_pos": "44349718", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs63750202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs63750202" }, { "id": "rs63750202", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs63750202" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNN).", "chr_id": "17", "chr_pos": "44349719", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs63750043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs63750043" }, { "id": "rs63750043", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs63750043" }, { "id": "rs63750043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs63750043#frequency_tab" }, { "id": "rs63750043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs63750043" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNY).", "chr_id": "17", "chr_pos": "44350237", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "disease": [ { "disease_id": "DOID:0060672", "recommended_name": { "id": "DOID:0060672", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060672", "name": "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31." }, "synonyms": [ { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "FTLD-TDP, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "aphasia, primary progressive", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "dementia, hereditary dysphasic disinhibition", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal dementia with TDP43 inclusions, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal dementia, ubiquitin-positive", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related", "description": "" }, { "id": "MONDO:0011842", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011842", "name": "frontotemporal lobar degeneration with ubiquitin-positive inclusions", "description": "" }, { "id": "MIM:607485", "resource": "MIM", "url": "https://www.omim.org/entry/607485", "name": "Ubiquitin-positive frontotemporal dementia", "description": "Ubiquitin-positive frontotemporal dementia" } ] }, { "disease_id": "DOID:0110732", "recommended_name": { "id": "DOID:0110732", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110732", "name": "neuronal ceroid lipofuscinosis 11", "description": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q." }, "synonyms": [ { "id": "DOID:0110732", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110732", "name": "CLN11", "description": "" }, { "id": "MONDO:0013866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013866", "name": "neuronal ceroid lipofuscinosis 11", 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "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": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "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", 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"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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "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 the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P28799", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28799" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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Classification" ] }, { "id": "IPR039036", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039036", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2896", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2896", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "138945", "url": "http://www.omim.org/entry/138945", "database": "MIM", "categories": [ "Other" ] }, { "id": "607485", "url": "http://www.omim.org/entry/607485", "database": "MIM", "categories": [ "Other" ] }, { "id": "614706", "url": "http://www.omim.org/entry/614706", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P28799", "url": "https://www.nextprot.org/entry/NX_P28799", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QTCCKLA", "url": "https://omabrowser.org/oma/group/QTCCKLA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "11342at2759", "url": "http://www.orthodb.org/?query=11342at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12274", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12274", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12274:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12274:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1G26", "url": "https://www.rcsb.org/structure/1G26", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JYE", "url": "https://www.rcsb.org/structure/2JYE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JYT", "url": "https://www.rcsb.org/structure/2JYT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JYU", "url": "https://www.rcsb.org/structure/2JYU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JYV", "url": "https://www.rcsb.org/structure/2JYV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6NUG", "url": "https://www.rcsb.org/structure/6NUG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00396", "url": "http://pfam.xfam.org/family/PF00396", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P28799", "url": "https://pharos.nih.gov/targets/P28799", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P28799", "url": "http://purl.obolibrary.org/obo/PR_P28799", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P28799", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "K7EJY4", "url": "https://www.uniprot.org/uniprot/K7EJY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJY4-1", "url": "https://www.uniprot.org/uniprot/K7EJY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK92", "url": "https://www.uniprot.org/uniprot/K7EK92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK92-1", "url": "https://www.uniprot.org/uniprot/K7EK92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKL3", "url": "https://www.uniprot.org/uniprot/K7EKL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKL3-1", "url": "https://www.uniprot.org/uniprot/K7EKL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELY1", "url": "https://www.uniprot.org/uniprot/K7ELY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELY1-1", "url": "https://www.uniprot.org/uniprot/K7ELY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EM89", "url": "https://www.uniprot.org/uniprot/K7EM89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EM89-1", "url": "https://www.uniprot.org/uniprot/K7EM89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMR1", "url": "https://www.uniprot.org/uniprot/K7EMR1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMR1-1", "url": "https://www.uniprot.org/uniprot/K7EMR1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENI2", "url": "https://www.uniprot.org/uniprot/K7ENI2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENI2-1", "url": "https://www.uniprot.org/uniprot/K7ENI2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENN1", "url": "https://www.uniprot.org/uniprot/K7ENN1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENN1-1", "url": "https://www.uniprot.org/uniprot/K7ENN1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPL0", "url": "https://www.uniprot.org/uniprot/K7EPL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPL0-1", "url": "https://www.uniprot.org/uniprot/K7EPL0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ05", "url": "https://www.uniprot.org/uniprot/K7EQ05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ05-1", "url": "https://www.uniprot.org/uniprot/K7EQ05-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQA7", "url": "https://www.uniprot.org/uniprot/K7EQA7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQA7-1", "url": "https://www.uniprot.org/uniprot/K7EQA7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQI0", "url": "https://www.uniprot.org/uniprot/K7EQI0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQI0-1", "url": "https://www.uniprot.org/uniprot/K7EQI0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQK6", "url": "https://www.uniprot.org/uniprot/K7EQK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQK6-1", "url": "https://www.uniprot.org/uniprot/K7EQK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERM2", "url": "https://www.uniprot.org/uniprot/K7ERM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERM2-1", "url": "https://www.uniprot.org/uniprot/K7ERM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P28799-1", "url": "https://www.uniprot.org/uniprot/P28799-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P28799-2", "url": "https://www.uniprot.org/uniprot/P28799-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P28799-3", "url": "https://www.uniprot.org/uniprot/P28799-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCCSDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL", "length": 593, "header": "sp|P28799-1|GRN_HUMAN Isoform 1 of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=2 CANONICAL=P28799-1" }, "isoforms": [ { "isoform_ac": "K7EJY4-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVH", "length": 163, "header": "tr|K7EJY4-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350468, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588143.5", "url": "https://www.ensembl.org/id/ENST00000588143.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465375.1", "url": "https://www.ensembl.org/id/ENSP00000465375.1" } ] } }, { "isoform_ac": "K7EK92-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDF", "length": 136, "header": "tr|K7EK92-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350286, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587518.5", "url": "https://www.ensembl.org/id/ENST00000587518.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465518.1", "url": "https://www.ensembl.org/id/ENSP00000465518.1" } ] } }, { "isoform_ac": "K7EKL3-1", "url": "", "sequence": { "sequence": "XAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCCSDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQVSANPHPGAGYGQGPGPTSSNPLAPL", "length": 388, "header": "tr|K7EKL3-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44352650, "end_pos": 44350539, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586443.1", "url": "https://www.ensembl.org/id/ENST00000586443.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465673.1", "url": "https://www.ensembl.org/id/ENSP00000465673.1" } ] } }, { "isoform_ac": "K7ELY1-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQ", "length": 62, "header": "tr|K7ELY1-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44349473, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587109.5", "url": "https://www.ensembl.org/id/ENST00000587109.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466271.1", "url": "https://www.ensembl.org/id/ENSP00000466271.1" } ] } }, { "isoform_ac": "K7EM89-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGC", "length": 149, "header": "tr|K7EM89-1|K7EM89_HUMAN Computationally mapped isoform of Granulin precursor OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350325, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593167.5", "url": "https://www.ensembl.org/id/ENST00000593167.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466405.1", "url": "https://www.ensembl.org/id/ENSP00000466405.1" } ] } }, { "isoform_ac": "K7EMR1-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEASCCEDRVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNAT", "length": 172, "header": "tr|K7EMR1-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44351042, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588237.5", "url": "https://www.ensembl.org/id/ENST00000588237.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466611.1", "url": "https://www.ensembl.org/id/ENSP00000466611.1" } ] } }, { "isoform_ac": "K7ENI2-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRS", "length": 111, "header": "tr|K7ENI2-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44349735, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589536.5", "url": "https://www.ensembl.org/id/ENST00000589536.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466956.1", "url": "https://www.ensembl.org/id/ENSP00000466956.1" } ] } }, { "isoform_ac": "K7ENN1-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPD", "length": 135, "header": "tr|K7ENN1-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350283, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591740.5", "url": "https://www.ensembl.org/id/ENST00000591740.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467022.1", "url": "https://www.ensembl.org/id/ENSP00000467022.1" } ] } }, { "isoform_ac": "K7EPL0-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEIKGPCQCRFLCVPQAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTR", "length": 191, "header": "tr|K7EPL0-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350510, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587387.5", "url": "https://www.ensembl.org/id/ENST00000587387.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467431.1", "url": "https://www.ensembl.org/id/ENSP00000467431.1" } ] } }, { "isoform_ac": "K7EQ05-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL", "length": 436, "header": "tr|K7EQ05-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44352795, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589265.5", "url": "https://www.ensembl.org/id/ENST00000589265.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467616.1", "url": "https://www.ensembl.org/id/ENSP00000467616.1" } ] } }, { "isoform_ac": "K7EQA7-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGA", "length": 37, "header": "tr|K7EQA7-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44349275, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585512.5", "url": "https://www.ensembl.org/id/ENST00000585512.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467745.1", "url": "https://www.ensembl.org/id/ENSP00000467745.1" } ] } }, { "isoform_ac": "K7EQI0-1", "url": "", "sequence": { "sequence": "XCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQPGVPSVCAGRPRAGTPL", "length": 110, "header": "tr|K7EQI0-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44352767, "end_pos": 44352202, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586242.1", "url": "https://www.ensembl.org/id/ENST00000586242.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467837.1", "url": "https://www.ensembl.org/id/ENSP00000467837.1" } ] } }, { "isoform_ac": "K7EQK6-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVM", "length": 142, "header": "tr|K7EQK6-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350304, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592783.5", "url": "https://www.ensembl.org/id/ENST00000592783.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467870.1", "url": "https://www.ensembl.org/id/ENSP00000467870.1" } ] } }, { "isoform_ac": "K7ERM2-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQGALLSARCLLRPGSHPLHHTHGHPPPGKEAPCPED", "length": 189, "header": "tr|K7ERM2-1|GRN_HUMAN Computationally mapped isoform of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=1 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44350566, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586782.5", "url": "https://www.ensembl.org/id/ENST00000586782.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468318.1", "url": "https://www.ensembl.org/id/ENSP00000468318.1" } ] } }, { "isoform_ac": "P28799-1", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCCSDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL", "length": 593, "header": "sp|P28799-1|GRN_HUMAN Isoform 1 of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=2 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44352795, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000053867.8", "url": "https://www.ensembl.org/id/ENST00000053867.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000053867.2", "url": "https://www.ensembl.org/id/ENSP00000053867.2" } ] } }, { "isoform_ac": "P28799-2", "url": "", "sequence": { "sequence": "MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGTSSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCEDRVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCCSDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCRDNRQGWACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL", "length": 438, "header": "sp|P28799-2|GRN_HUMAN Isoform 2 of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=2 CANONICAL=P28799-1" }, "locus": { "chromosome": "17", "start_pos": 44352795, "end_pos": 44349165, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639447.1", "url": "https://www.ensembl.org/id/ENST00000639447.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492014.1", "url": "https://www.ensembl.org/id/ENSP00000492014.1" } ] } }, { "isoform_ac": "P28799-3", "url": "", "sequence": { "sequence": "MAITAAHGASTAVQTGDPASKDQVTTPWVPSSALIVSSNARTSPRAVLWSMAPGGAAPCPRLPAVKTGCTAVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIHCCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDHQHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQHCCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCPAGFRCAARGTKCLRREAPRWDAPLRDPALRQLL", "length": 413, "header": "sp|P28799-3|GRN_HUMAN Isoform 3 of Progranulin OS=Homo sapiens OX=9606 GN=GRN PE=1 SV=2 CANONICAL=P28799-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "P28799", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "id": "20188224", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20188224" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "CITPTGTHPLAK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 178, "start_aa": "Cys", "end_pos": 189, "end_aa": "Lys", "evidence": [ { "id": "P28799", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TPT", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 180, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "evidence": [ { "id": "P28799", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 182, "start_aa": "Thr", "end_pos": 182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr182", "evidence": [ { "id": "P28799", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 236, "start_aa": "Asn", "end_pos": 236, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn236", "evidence": [ { "id": "P28799", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "P28799", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "20188224", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20188224" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 368, "start_aa": "Asn", "end_pos": 368, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn368", "evidence": [ { "id": "P28799", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "id": "20188224", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20188224" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G31685JQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G63628AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 530, "start_aa": "Asn", "end_pos": 530, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn530", "evidence": [ { "id": "P28799", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "id": "20188224", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20188224" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G14669DU", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 532, "start_aa": "Thr", "end_pos": 532, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr532", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G31685JQ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 532, "start_aa": "Thr", "end_pos": 532, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr532", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 532, "start_aa": "Thr", "end_pos": 532, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr532", "evidence": [ { "id": "P28799", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "glytoucan_ac": "G63628AV", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 532, "start_aa": "Thr", "end_pos": 532, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr532", "evidence": [ { "id": "1290", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1290" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 537, "start_aa": "Asn", "end_pos": 537, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn537", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [ { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P28799", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28799" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr11" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P28799", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28799" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser6" }, { "start_pos": 81, "end_pos": 81, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P28799", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28799" }, { "database": "PubMed", "id": "26005049", "url": "https://glygen.org/publication/PubMed/26005049" } ], "site_lbl": "Ser81" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen .H", "evidence": [ { "database": "UniCarbKB", "id": "P28799", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Design and solution structure of a well-folded stack of two beta-hairpins based on the amino-terminal fragment of human granulin A.", "journal": "Biochemistry", "date": "2000", "authors": "Ng A., Ni F., Tolkatchev D., Vranken W.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "10715107", "url": "https://glygen.org/publication/PubMed/10715107" } ] }, { "title": "Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair.", "journal": "Cell", "date": "2002", "authors": "Zhu J, Nathan C, Jin W, Sim D, Ashcroft GS, Wahl SM, Lacomis L, Erdjument-Bromage H, Tempst P, Wright CD, Ding A", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "12526812", "url": "https://glygen.org/publication/PubMed/12526812" } ] }, { "title": "Structure and chromosomal location of the human granulin gene.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1992", "authors": "Bhandari V., Bateman A.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "1417868", "url": "https://glygen.org/publication/PubMed/1417868" } ] }, { "title": "Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1992", "authors": "Bhandari V, Palfree RG, Bateman A", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "1542665", "url": "https://glygen.org/publication/PubMed/1542665" } ] }, { "title": "The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Plowman GD, Green JM, Neubauer MG, Buckley SD, McDonald VL, Todaro GJ, Shoyab M", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "1618805", "url": "https://glygen.org/publication/PubMed/1618805" } ] }, { "title": "Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.", "journal": "Nature", "date": "2006", "authors": "Crook R., Hutton M., Sadovnick A.D., Adamson J., Baker M., Rademakers R., Mann D., Richardson A., Feldman H., Mackenzie I.R., Neary D., Rollinson S., Snowden J., Berger Z., Boeve B., Cannon A., Dickey C.A., Dickson D., Dwosh E., Eriksen J., Gass J., Lindholm C., McGowan E., Melquist S., Pickering-Brown S.M., Robinson T., Zehr C.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "16862116", "url": "https://glygen.org/publication/PubMed/16862116" } ] }, { "title": "HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.", "journal": "Ann. Neurol.", "date": "2006", "authors": "Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "16983685", "url": "https://glygen.org/publication/PubMed/16983685" } ] }, { "title": "Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.", "journal": "Hum. Mutat.", "date": "2008", "authors": "Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, Kauwe JS, Norton J, Levitch D, Bigio EH, Hatanpaa KJ, White CL, Morris JC, Cairns NJ, Goate A", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "18183624", "url": "https://glygen.org/publication/PubMed/18183624" } ] }, { "title": "Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities.", "journal": "Protein Sci.", "date": "2008", "authors": "Chen Z., Wang P., Xu P., Malik S., Ni F., Bateman A., Bennett H.P., Tolkatchev D., Vinogradova A.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "18359860", "url": "https://glygen.org/publication/PubMed/18359860" } ] }, { "title": "Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival.", "journal": "J. Cell Biol.", "date": "2008", "authors": "Van Damme P., Carmeliet P., Robberecht W., Van Den Bosch L., Van Hoecke A., van Swieten J., Lambrechts D., Bogaert E., Vanacker P.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "18378771", "url": "https://glygen.org/publication/PubMed/18378771" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Defining elastic fiber interactions by molecular fishing: an affinity purification and mass spectrometry approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Cain SA, McGovern A, Small E, Ward LJ, Baldock C, Shuttleworth A, Kielty CM", "evidence": [ { "database": "MatrixDB", "id": "GAG_1", "url": "http://matrixdb.univ-lyon1.fr/cgi-bin/current/newPort?type=biomolecule&value=GAG_1" } ], "reference": [ { "type": "PubMed", "id": "19755719", "url": "https://glygen.org/publication/PubMed/19755719" } ] }, { "title": "A thorough assessment of benign genetic variability in GRN and MAPT.", "journal": "Hum. Mutat.", "date": "2010", "authors": "Hardy J., Guerreiro R.J., Singleton A., Washecka N.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "20020531", "url": "https://glygen.org/publication/PubMed/20020531" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P28799-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28799-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Development and application of mass spectrometric methods for the analysis of progranulin N-glycosylation.", "journal": "Journal of proteomics", "date": "2010", "authors": "Songsrirote K, Li Z, Ashford D, Bateman A, Thomas-Oates J", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799#ptm_processing" }, { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "20188224", "url": "https://glygen.org/publication/PubMed/20188224" } ] }, { "title": "Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin.", "journal": "Neuron", "date": "2010", "authors": "Nykjaer A., Zheng Y., Hu F., Mackenzie I.R., Strittmatter S.M., Padukkavidana T., Vaegter C.B., Brady O.A., Feldman H.H.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "21092856", "url": "https://glygen.org/publication/PubMed/21092856" } ] }, { "title": "Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.", "journal": "Am. J. Hum. Genet.", "date": "2012", "authors": "Lewis J., Morbin M., Rossi G., Berkovic S.F., Dickson D.W., Dahl H.H., Sims K.B., Staropoli J.F., Bahlo M., Carpenter S., Mole S.E., Canafoglia L., Damiano J., Franceschetti S., Smith K.R., Pareyson D., Lin W.L.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "22608501", "url": "https://glygen.org/publication/PubMed/22608501" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "Granulins, a novel class of peptide from leukocytes.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1990", "authors": "Bateman A, Belcourt D, Bennett H, Lazure C, Solomon S", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "2268320", "url": "https://glygen.org/publication/PubMed/2268320" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Secreted progranulin is a homodimer and is not a component of high density lipoproteins (HDL).", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Walther T.C., Yu G., Davidson W.S., Nguyen T.A., Farese R.V. Jr., Cenik B., Herz J., Nguyen A.D.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "23364791", "url": "https://glygen.org/publication/PubMed/23364791" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P28799", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Capell A, Fellerer K, Haass C", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" } ], "reference": [ { "type": "PubMed", "id": "25056957", "url": "https://glygen.org/publication/PubMed/25056957" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "P28799", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "The molecular basis for development of proinflammatory autoantibodies to progranulin.", "journal": "Journal of autoimmunity", "date": "2015", "authors": "Thurner L, Fadle N, Regitz E, Kemele M, Klemm P, Zaks M, Stoger E, Bette B, Carbon G, Zimmer V, Assmann G, Murawski N, Kubuschok B, Held G, Preuss KD, Pfreundschuh M", "evidence": [ { "database": "iPTMnet", "id": "P28799", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28799" } ], "reference": [ { "type": "PubMed", "id": "26005049", "url": "https://glygen.org/publication/PubMed/26005049" } ] }, { "title": "Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.", "journal": "J. Cell Biol.", "date": "2015", "authors": "Zhou X, Sun L, Bastos de Oliveira F, Qi X, Brown WJ, Smolka MB, Sun Y, Hu F", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "26370502", "url": "https://glygen.org/publication/PubMed/26370502" } ] }, { "title": "Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.", "journal": "EBioMedicine", "date": "2016", "authors": "Jian J, Tian QY, Hettinghouse A, Zhao S, Liu H, Wei J, Grunig G, Zhang W, Setchell KDR, Sun Y, Overkleeft HS, Chan GL, Liu CJ", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "27789271", "url": "https://glygen.org/publication/PubMed/27789271" } ] }, { "title": "Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes.", "journal": "Hum. Mol. Genet.", "date": "2017", "authors": "Tanaka Y., Hasegawa M., Hosokawa M., Suzuki G., Beach T.G., Nishihara M., Matsuwaki T., Serrano G., Yamanouchi K.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "28073925", "url": "https://glygen.org/publication/PubMed/28073925" } ] }, { "title": "Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo.", "journal": "Hum. Mol. Genet.", "date": "2017", "authors": "Saftig P., Van Damme P., Damme M., Robberecht W., Van Den Bosch L., Moisse M., Beel S., De Muynck L.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "28453791", "url": "https://glygen.org/publication/PubMed/28453791" } ] }, { "title": "Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations.", "journal": "Nat. Commun.", "date": "2017", "authors": "Zhou X, Sun L, Bracko O, Choi JW, Jia Y, Nana AL, Brady OA, Hernandez JCC, Nishimura N, Seeley WW, Hu F", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "28541286", "url": "https://glygen.org/publication/PubMed/28541286" } ] }, { "title": "The lysosomal protein cathepsin L is a progranulin protease.", "journal": "Mol. Neurodegener.", "date": "2017", "authors": "Lee CW, Stankowski JN, Chew J, Cook CN, Lam YW, Almeida S, Carlomagno Y, Lau KF, Prudencio M, Gao FB, Bogyo M, Dickson DW, Petrucelli L", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "28743268", "url": "https://glygen.org/publication/PubMed/28743268" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1290", "url": "https://glyconnect.expasy.org/browser/proteins/1290" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "1290", "url": "https://glyconnect.expasy.org/browser/proteins/1290" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P28799", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28799" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "hiPSC-derived GRN-deficient astrocytes delay spiking activity of developing neurons.", "journal": "Neurobiology of disease", "date": "2023-04-11", "authors": "Lee Christopher, Frew Jonathan, Weilinger Nicholas L, Wendt Stefan, Cai Wenji, Sorrentino Stefano, Wu Xiujuan, MacVicar Brian A, Willerth Stephanie M, Nygaard Haakon B", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" } ], "reference": [ { "type": "PubMed", "id": "37054899", "url": "https://glygen.org/publication/PubMed/37054899" } ] }, { "title": "Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.", "journal": "Acta neuropathologica communications", "date": "2023-04-28", "authors": "Davis Skylar E, Cook Anna K, Hall Justin A, Voskobiynyk Yuliya, Carullo Nancy V, Boyle Nicholas R, Hakim Ahmad R, Anderson Kristian M, Hobdy Kierra P, Pugh Derian A, Murchison Charles F, McMeekin Laura J, Simmons Micah, Margolies Katherine A, Cowell Rita M, Nana Alissa L, Spina Salvatore, Grinberg Lea T, Miller Bruce L, Seeley William W, Arrant Andrew E", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" } ], "reference": [ { "type": "PubMed", "id": "37118844", "url": "https://glygen.org/publication/PubMed/37118844" } ] }, { "title": "The Role of Progranulin (PGRN) in the Pathogenesis of Ischemic Stroke.", "journal": "Cellular and molecular neurobiology", "date": "2023-10", "authors": "Purrahman Daryush, Shojaeian Ali, Poniatowski \u0141ukasz A, Piechowski-J\u00f3\u017awiak Bart\u0142omiej, Mahmoudian-Sani Mohammad-Reza", "evidence": [ { "database": "RefSeq", "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078" } ], "reference": [ { "type": "PubMed", "id": "37561339", "url": "https://glygen.org/publication/PubMed/37561339" } ] }, { "title": "Characterisation of UGP and its relationship with beta-core fragment.", "journal": "Br. J. Cancer", "date": "1993", "authors": "Taylor M., Coles B., Bagshawe K.D., Kardana A., Read D.", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "reference": [ { "type": "PubMed", "id": "8471426", "url": "https://glygen.org/publication/PubMed/8471426" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] } ], "pathway": [ { "id": "hsa:2896", "name": "", "url": 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"GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of protein folding", "id": "GO:1903334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903334", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "astrocyte activation involved in immune response", "id": "GO:0002265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002265", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "lysosomal lumen acidification", "id": "GO:0007042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "microglial cell activation involved in immune response", "id": "GO:0002282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002282", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "negative regulation of respiratory burst involved in inflammatory response", "id": "GO:0060266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060266", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "negative regulation of neutrophil activation", "id": "GO:1902564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902564", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response to wounding", "id": "GO:0106016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106016", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of aspartic-type peptidase activity", "id": "GO:1905247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905247", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" }, { "name": "positive regulation of lysosome organization", "id": "GO:1905673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905673", "evidence": [ { "database": "UniProtKB", "id": "P28799", "url": "https://www.uniprot.org/uniprot/P28799" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": 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