{ "uniprot_canonical_ac": "O14791-1", "uniprot_ac": "O14791", "uniprot_id": "APOL1_HUMAN", "mass": { "chemical_mass": 43974.0, "monoisotopic_mass": 43974.0 }, "refseq": { "ac": "NP_001130012", "name": "apolipoprotein L1 isoform a precursor", "summary": "This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, "gene_names": [ { "name": "APOL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14791", "id": "O14791" }, { "name": "APO-L; APOL; APOL-I; FSGS4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "id": "NP_001130012" }, { "name": "APOL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "id": "NP_001130012" }, { "name": "APOL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14791", "id": "O14791" } ], "protein_names": [ { "name": "Apolipoprotein L1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14791" }, { "name": "Apo-L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14791" }, { "name": "ApoL-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14791" }, { "name": "ApoL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14791" }, { "name": "Apolipoprotein L-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14791" }, { "name": "Apolipoprotein L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14791" }, { "name": "apolipoprotein L 1; apolipoprotein L1-B3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "id": "NP_001130012" }, { "name": "apolipoprotein L1 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "id": "NP_001130012" } ], "function": [ { "annotation": "APOL1 Gene Variants and Risk for Cardiovascular Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, { "database": "PubMed", "id": "37778341", "url": "https://glygen.org/publication/PubMed/37778341" } ] }, { "annotation": "APOL1 Risk Variants Associate With the Prevalence of Stroke in African American Current and Past Smokers.", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, { "database": "PubMed", "id": "38084718", "url": "https://glygen.org/publication/PubMed/38084718" } ] }, { "annotation": "Association between APOL1 risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, { "database": "PubMed", "id": "37882666", "url": "https://glygen.org/publication/PubMed/37882666" } ] }, { "annotation": "Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, { "database": "PubMed", "id": "37798822", "url": "https://glygen.org/publication/PubMed/37798822" } ] }, { "annotation": "May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver.", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791#function" } ] }, { "annotation": "Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" }, { "database": "PubMed", "id": "38036523", "url": "https://glygen.org/publication/PubMed/38036523" } ] }, { "annotation": "This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012" } ] } ], "disease": [ { "disease_id": "MONDO:0012931", "recommended_name": { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "focal segmental glomerulosclerosis 4, susceptibility to", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." }, "synonyms": [ { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "APOL1 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "focal segmental glomerulosclerosis 4, susceptibility to", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "focal segmental glomerulosclerosis caused by mutation in APOL1", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "glomerulosclerosis, focal segmental, 4, susceptibility to", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "FSGS4", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "end-stage renal disease, nondiabetic, susceptibility to", "description": "" }, { "id": "MONDO:0012931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012931", "name": "susceptibility to focal segmental glomerulosclerosis 4", "description": "" }, { "id": "MIM:612551", "resource": "MIM", "url": "https://www.omim.org/entry/612551", "name": "Focal segmental glomerulosclerosis 4", "description": "Focal segmental glomerulosclerosis 4" } ], "evidence": [ { "id": "612551", "database": "MIM", "url": "https://www.omim.org/entry/612551" } ] } ], "snv": [ { "evidence": [ { "id": "rs574173074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs574173074" }, { "id": "rs574173074", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs574173074" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 156, "end_pos": 156, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "22", "chr_pos": "36265304", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R156", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149947719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149947719" }, { "id": "rs149947719", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149947719#frequency_tab" }, { "id": "rs149947719", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149947719" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "22", "chr_pos": "36265346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775056389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775056389" }, { "id": "rs775056389", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775056389#frequency_tab" }, { "id": "rs775056389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775056389" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 261, "end_pos": 261, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->TIS).", "chr_id": "22", "chr_pos": "36265618", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188476243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188476243" }, { "id": "rs188476243", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188476243" }, { "id": "rs188476243", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188476243" }, { "id": "rs188476243", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188476243#frequency_tab" }, { "id": "rs188476243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188476243" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 263, "end_pos": 263, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIP).", "chr_id": "22", "chr_pos": "36265623", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14791", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14791" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 39, "end_pos": 39, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "22", "chr_pos": "36257335", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P39", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100342", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100342" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14791" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14791" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14791", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14791" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14791" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"id": "APOL1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOL1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8542", "url": "https://www.ncbi.nlm.nih.gov/gene/8542", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "618", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=618", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14791", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14791*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR008405", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008405", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "603743", "url": "http://www.omim.org/entry/603743", "database": "MIM", "categories": [ "Other" ] }, { "id": "612551", "url": "http://www.omim.org/entry/612551", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14791", "url": "https://www.nextprot.org/entry/NX_O14791", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "VHKDATI", "url": "https://omabrowser.org/oma/group/VHKDATI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5323587at2759", "url": "http://www.orthodb.org/?query=5323587at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14096", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14096", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14096:SF55", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14096:SF55", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7L6K", "url": "https://www.rcsb.org/structure/7L6K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LF7", "url": "https://www.rcsb.org/structure/7LF7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LFA", "url": "https://www.rcsb.org/structure/7LFA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LFB", "url": "https://www.rcsb.org/structure/7LFB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7LFD", "url": "https://www.rcsb.org/structure/7LFD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05461", "url": "http://pfam.xfam.org/family/PF05461", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14791", "url": "https://pharos.nih.gov/targets/O14791", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050710", "url": "https://proconsortium.org/app/entry/PR:000050710", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050711", "url": "https://proconsortium.org/app/entry/PR:000050711", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O14791", "url": "http://purl.obolibrary.org/obo/PR_O14791", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O14791", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B1AH94", "url": "https://www.uniprot.org/uniprot/B1AH94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AH94-1", "url": "https://www.uniprot.org/uniprot/B1AH94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AH95", "url": "https://www.uniprot.org/uniprot/B1AH95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AH95-1", "url": "https://www.uniprot.org/uniprot/B1AH95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AH96", "url": "https://www.uniprot.org/uniprot/B1AH96", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AH96-1", "url": "https://www.uniprot.org/uniprot/B1AH96-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14791-1", "url": "https://www.uniprot.org/uniprot/O14791-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14791-2", "url": "https://www.uniprot.org/uniprot/O14791-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14791-3", "url": "https://www.uniprot.org/uniprot/O14791-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL", "length": 398, "header": "sp|O14791-1|APOL1_HUMAN Isoform 1 of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=5 CANONICAL=O14791-1" }, "isoforms": [ { "isoform_ac": "B1AH94-1", "url": "", "sequence": { "sequence": "MRFKSHTVELRSTLSQPLFSCSRRRPCSDMEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL", "length": 427, "header": "tr|B1AH94-1|APOL1_HUMAN Computationally mapped isoform of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=2 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36266030, "end_pos": 36253963, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438034.6", "url": "https://www.ensembl.org/id/ENST00000438034.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000404525.2", "url": "https://www.ensembl.org/id/ENSP00000404525.2" } ] } }, { "isoform_ac": "B1AH95-1", "url": "", "sequence": { "sequence": "MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPGPAGSRGDSGEPCTLRPACRGQRQHGGASRISAEGPAPMPRRRTPSTAHLRVPKTSRRNLLCMRAVSLLRMPLSISRKK", "length": 141, "header": "tr|B1AH95-1|B1AH95_HUMAN Computationally mapped isoform of cDNA FLJ59906, moderately similar to Apolipoprotein-L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=1 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36261643, "end_pos": 36254956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433768.6", "url": "https://www.ensembl.org/id/ENST00000433768.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000392514.1", "url": "https://www.ensembl.org/id/ENSP00000392514.1" } ] } }, { "isoform_ac": "B1AH96-1", "url": "", "sequence": { "sequence": "MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLR", "length": 159, "header": "tr|B1AH96-1|APOL1_HUMAN Computationally mapped isoform of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=8 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36266030, "end_pos": 36254956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427990.5", "url": "https://www.ensembl.org/id/ENST00000427990.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391302.1", "url": "https://www.ensembl.org/id/ENSP00000391302.1" } ] } }, { "isoform_ac": "O14791-1", "url": "", "sequence": { "sequence": "MEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL", "length": 398, "header": "sp|O14791-1|APOL1_HUMAN Isoform 1 of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=5 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36266030, "end_pos": 36254956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397278.8", "url": "https://www.ensembl.org/id/ENST00000397278.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380448.4", "url": "https://www.ensembl.org/id/ENSP00000380448.4" } ] } }, { "isoform_ac": "O14791-2", "url": "", "sequence": { "sequence": "MRFKSHTVELRRPCSDMEGAALLRVSVLCIWMSALFLGVGVRAEEAGARVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL", "length": 414, "header": "sp|O14791-2|APOL1_HUMAN Isoform 2 of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=5 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36266030, "end_pos": 36253963, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319136.8", "url": "https://www.ensembl.org/id/ENST00000319136.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000317674.4", "url": "https://www.ensembl.org/id/ENSP00000317674.4" } ] } }, { "isoform_ac": "O14791-3", "url": "", "sequence": { "sequence": "MEGAALLRVSVLCIWVQQNVPSGTDTGDPQSKPLGDWAAGTMDPESSIFIEDAIKYFKEKVSTQNLLLLLTDNEAWNGFVAAAELPRNEADELRKALDNLARQMIMKDKNWHDKGQQYRNWFLKEFPRLKSELEDNIRRLRALADGVQKVHKGTTIANVVSGSLSISSGILTLVGMGLAPFTEGGSLVLLEPGMELGITAALTGITSSTMDYGKKWWTQAQAHDLVIKSLDKLKEVREFLGENISNFLSLAGNTYQLTRGIGKDIRALRRARANLQSVPHASASRPRVTEPISAESGEQVERVNEPSILEMSRGVKLTDVAPVSFFLVLDVVYLVYESKHLHEGAKSETAEELKKVAQELEEKLNILNNNYKILQADQEL", "length": 380, "header": "sp|O14791-3|APOL1_HUMAN Isoform 3 of Apolipoprotein L1 OS=Homo sapiens OX=9606 GN=APOL1 PE=1 SV=5 CANONICAL=O14791-1" }, "locus": { "chromosome": "22", "start_pos": 36266030, "end_pos": 36254956, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426053.5", "url": "https://www.ensembl.org/id/ENST00000426053.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388477.1", "url": "https://www.ensembl.org/id/ENSP00000388477.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "WWTQAQAHDLVIK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 234, "start_aa": "Trp", "end_pos": 246, "end_aa": "Lys", "evidence": [ { "id": "O14791", "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": 236, "start_aa": "Thr", "end_pos": 236, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr236", "evidence": [ { "id": "O14791", "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": 261, "start_aa": "Asn", "end_pos": 261, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn261", "evidence": [ { "id": "O14791", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14791#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 59, "start_aa": "Thr", "end_pos": 59, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr59", "evidence": [ { "id": "O14791", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 59, "start_aa": "Thr", "end_pos": 59, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr59", "evidence": [ { "id": "O14791", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 311, "end_pos": 311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" }, { "database": "iPTMnet", "id": "O14791", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14791" }, { "database": "PubMed", "id": "18702456", "url": "https://glygen.org/publication/PubMed/18702456" }, { "database": "PubMed", "id": "19824718", "url": "https://glygen.org/publication/PubMed/19824718" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser311" }, { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" }, { "database": "iPTMnet", "id": "O14791", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14791" }, { "database": "PubMed", "id": "19824718", "url": "https://glygen.org/publication/PubMed/19824718" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ], "site_lbl": "Ser314" } ], "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": "O14791", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O14791", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], 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"MDWNEILEGIKKVERRIVEKAIDNFTEKFLRTDLRSLITEDGAWNGFVEAAELSREEGEALRDALKERLAQDPTDENDRPQREQQKERFLREFPQLKKKLEDHIRKLRELADKFDQVHKDCTISNVVSTSASAASGVLALLGLALSTVTAGASLALSASSVALGATSSVSSFTTTAVEESMRLSYESEARNLIGASMNVLEEILKIMPKITYKFYSTVADLAEAFKTLKDQIQTIRRARSISRRGAQARNLPSTGRSSGQVVPQMTRGARFQKGVFTSVLLGWDVYDLVNQSKDLYYGAKTKSGGALRDLARKLEENLQEFEQKCKALQSDLPQ", "length": 334 }, "evidence": [ { "id": "45931927", "url": "http://www.informatics.jax.org/homology/45931927", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "G3X9K7-1", "protein_name": "Apolipoprotein L 10B", "gene_name": "Apol10b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARAWCSTDLKQGVARSVDGVADIVTEKFLKTDLRSLITEDGAWKAFEEAAELSSEEGAILRDALKESLAQEPSDENDGPERKQQNERFLREFPELKKKLEDHIRKLRDLADHLDQVHKDCTISNVVSTFASAISGAMGLLALGLVPFTEGVSLLLSAASVGLGETASVTGLTTTVVEESMRLSDESEASRLVRASMNVFEEIVKIMSKITFKLLFTAVGLVPAVKILRDHIRAMRRARIIIFPREEARNLTSSERSSVQGVLPMTRGARLRAVGFTSLFLAWDVYDFVKQSKDLYNGAKTESAGALRELAHKLEEKLQVFEQIYKALQSDLPH", "length": 334 }, "evidence": [ { "id": "45931928", "url": "http://www.informatics.jax.org/homology/45931928", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "M0RBH1-1", "protein_name": "Apolipoprotein L, 2", "gene_name": "Apol2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MECLGVPSVHAELGRIGNGSEVCFLLLAAWGRDPAFDTMDPSDGEDSPASRTFIEEATEYLQHTSGRDDLKLLLTEDGAWEAFVAEAELSRADADTLRDALNALTANMAEEDQNRLQHDLQDVERFIDVFPQVKLELERHVRKLRTLADKVDKVHRDCTISKVVAGSTSTVSGVLTLLGLALVPVTAGVSLVLLATGMGLGAAAAVTSVSTGIVDYTSKSSAQTEASHLVSTSMVKVKMAAEAVVYSGPQVFSLSESCCRVLRCIEQSVYAIKLTKANPALAASVKRLMTVGSISAQSDKHVKKAFKGTALAMSRRTRIMGIATAGVSLIGDVISLVKESKNLYKGAKAKSAEELRQQARELEEKLEVLVQIYDGLQSGSTQSS", "length": 384 }, "evidence": [ { "id": "45929558", "url": "http://www.informatics.jax.org/homology/45929558", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O95236-1", "protein_name": "Apolipoprotein L3", "gene_name": "APOL3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGLGQGWGWEASCFACLIRSCCQVVTFTFPFGFQGISQSLENVSGYYADARLEVGSTQLRTAGSCSHSFKRSFLEKKRFTEEATKYFRERVSPVHLQILLTNNEAWKRFVTAAELPRDEADALYEALKKLRTYAAIEDEYVQQKDEQFREWFLKEFPQVKRKIQESIEKLRALANGIEEVHRGCTISNVVSSSTGAASGIMSLAGLVLAPFTAGTSLALTAAGVGLGAASAVTGITTSIVEHSYTSSAEAEASRLTATSIDRLKVFKEVMRDITPNLLSLLNNYYEATQTIGSEIRAIRQARARARLPVTTWRISAGSGGQAERTIAGTTRAVSRGARILSATTSGIFLALDVVNLVYESKHLHEGAKSASAEELRRQAQELEENLMELTQIYQRLNPCHTH", "length": 402 }, "evidence": [ { "id": "45929558", "url": "http://www.informatics.jax.org/homology/45929558", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q5XIB6-1", "protein_name": "Apolipoprotein L 9a", "gene_name": "Apol9a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASRGYLHHLLTAEGAWEEFVSKAKLPRDRAVALHKALRDLTALLAIAERGRSRKGWKGKEKFVKAFPCLKADLEEHISQLYALADHAEELHRGCTVSNMVADSFSVASDILNLFGLFLAPESAEGSLVLSAAGLGLGVAATVTNVATSIMKETSRVLDGVEAGHHGSTAMDILEEAGTSVARIASEIPQATRDITRDLEALEQHMNALSLVRANPRLEEDARALINAGSIPAQRAKQVRASLKGTPLAMSKEDRIRSATTTGVTLLRDVGSLVNESKQLYEGSASESAAALRKLAQELEEKLGELMKFYETI", "length": 313 }, "evidence": [ { "id": "45929554", "url": "http://www.informatics.jax.org/homology/45929554", "database": "MGI" }, { "id": "45929557", "url": "http://www.informatics.jax.org/homology/45929557", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8C7I4-1", "protein_name": "Apolipoprotein L 9b", "gene_name": "Apol9b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASSGYLYSLVAEDGAWQAFVSKAKLSRERAVALHKALRELTALLAIADRGRLQKGLKGREKFLKVFPRLKAELVEHISQLHALADHAEKLHRGCTISNVVADSFSAASDILSLLGLFLAPVTAEGSLVLSATGLGLGVAATVTDVATSIVEETSRVLDEVEAALTGTHVLGEAGTSVARIVNKIPQATRDITRDLEALEQHMNALRLVRANPRLEEDARILATTGSISAQRAMQVRARLEGTPLAMSNEARIQRAATAGAALWSDVDSLVKESKHLYEGSASESAEALRKLARELEEKLEGLMEFYKTI", "length": 310 }, "evidence": [ { "id": "45929554", "url": "http://www.informatics.jax.org/homology/45929554", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8CCA5-1", "protein_name": "Apolipoprotein L 10A", "gene_name": "Apol10a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDWNEILEDIRKVERRIVEKFIEDLTENFLRTDLRSLITEDGAWNGFLETAELSSEEKAALRDALKESSAQKPSGENDRPERKPQKEQILREVPQLKKKLEVHISKLRELADKLDLVHKCCTISNVVSLTLSAASGVLKLLDFVLSQIYGMPRRALSATSEGLGMASDMINITTTIVGESFRQSYESEARRLVGASINILYEIINITPMITVKLYYTVKDLVEAFKTLTGQIRAIRTAISNSDLGTQARNPASTGRSSGQGVPQMISRARIREIGLTVPFLEQDLRDLAQQFEVLKDGAKTESGGALRDLAHKLEENL", "length": 318 }, "evidence": [ { "id": "45931930", "url": "http://www.informatics.jax.org/homology/45931930", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8VDU3-1", "protein_name": "Apol9a protein", "gene_name": "Apol9a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASSGYLYSLVAEDGVWQAFVSKAKLSRERAVALHKALRELTALLAIADRGRLQKGLKGREKFLKVFPRLKAELVEHISQLHALADHAEKLHRGCTISNVVADSFSAASDILSLLGLFLAPVTAEGSLVLSATGLGLGVAATVTDVATSIVEETSRVLDEVEAAPTGTHVLGEAGTSVDRIASKVPQATRDITRDLEALEQHMNALRLVRANPRLEEDARILATTGSISAQRAMQVRASLKGTPLAMSNEARIQRATAAGAALWSDVDSLVKESKHLYEGSASESAEALRKLARELEEKLEGLMEFYKTI", "length": 310 }, "evidence": [ { "id": "45929557", "url": "http://www.informatics.jax.org/homology/45929557", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9BPW4-1", "protein_name": "Apolipoprotein L4", "gene_name": "APOL4", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEGAALLKIFVVCIWVQQNHPGWTVAGQFQEKKRFTEEVIEYFQKKVSPVHLKILLTSDEAWKRFVRVAELPREEADALYEALKNLTPYVAIEDKDMQQKEQQFREWFLKEFPQIRWKIQESIERLRVIANEIEKVHRGCVIANVVSGSTGILSVIGVMLAPFTAGLSLSITAAGVGLGIASATAGIASSIVENTYTRSAELTASRLTATSTDQLEALRDILRDITPNVLSFALDFDEATKMIANDVHTLRRSKATVGRPLIAWRYVPINVVETLRTRGAPTRIVRKVARNLGKATSGVLVVLDVVNLVQDSLDLHKGAKSESAESLRQWAQELEENLNELTHIHQSLKAG", "length": 351 }, "evidence": [ { "id": "45929558", "url": "http://www.informatics.jax.org/homology/45929558", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9BQE5-1", "protein_name": "Apolipoprotein L2", "gene_name": "APOL2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNPESSIFIEDYLKYFQDQVSRENLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQWFLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAAVAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYAPPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGKLNFLTKIHEMLQPGQDQ", "length": 337 }, "evidence": [ { "id": "45931929", "url": "http://www.informatics.jax.org/homology/45931929", "database": "MGI" }, { "id": "45931928", "url": "http://www.informatics.jax.org/homology/45931928", "database": "MGI" }, { "id": "45929558", "url": "http://www.informatics.jax.org/homology/45929558", "database": "MGI" }, { "id": "45929554", "url": "http://www.informatics.jax.org/homology/45929554", "database": "MGI" }, { "id": "45929557", "url": "http://www.informatics.jax.org/homology/45929557", "database": "MGI" }, { "id": "45931930", "url": "http://www.informatics.jax.org/homology/45931930", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "cytolysis by host of symbiont cells", "id": "GO:0051838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051838", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "apolipoprotein L1 O-glycosylated 1 (human)", "definition": "An apolipoprotein L1 (human) that has been O-glycosylated at the residue equivalent to Thr-59 of the amino acid sequence represented by UniProtKB:O14791-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O14791-1, Thr-59, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050710", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050710" } ] }, { "name": "apolipoprotein L1 O-glycosylated 2 (human)", "definition": "An apolipoprotein L1 (human) that has been O-glycosylated at the residue equivalent to Thr-59 of the amino acid sequence represented by UniProtKB:O14791-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O14791-1, Thr-59, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050711", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050711" } ] } ], "site_annotation": [ { "start_pos": 261, "end_pos": 263, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated by FAM20C in the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "O14791", "url": "https://www.uniprot.org/uniprot/O14791" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 261 ], "o_linked_sites": [ 59, 234, 236 ], "snv_sites": [ 39, 156, 170, 261, 263 ], "glycation_sites": [], "phosphorylation_sites": [ 311, 314 ], "sequon_annotation_sites": [ { "start_pos": 261, "end_pos": 263 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 122 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }