{ "uniprot_canonical_ac": "A6NKG5-1", "uniprot_ac": "A6NKG5", "uniprot_id": "RTL1_HUMAN", "mass": { "chemical_mass": 155048.0, "monoisotopic_mass": 155048.0 }, "refseq": { "ac": "NP_001128360", "name": "retrotransposon-like protein 1", "summary": "This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, "gene_names": [ { "name": "RTL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NKG5", "id": "A6NKG5" }, { "name": "HUR1; Mar1; MART1; PEG11; SIRH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360", "id": "NP_001128360" }, { "name": "MAR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NKG5", "id": "A6NKG5" }, { "name": "MART1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NKG5", "id": "A6NKG5" }, { "name": "PEG11", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NKG5", "id": "A6NKG5" }, { "name": "RTL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360", "id": "NP_001128360" } ], "protein_names": [ { "name": "Retrotransposon-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NKG5" }, { "name": "Mammalian retrotransposon derived protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NKG5" }, { "name": "Paternally expressed gene 11 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NKG5" }, { "name": "Retrotransposon-derived protein PEG11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NKG5" }, { "name": "mammalian retrotransposon derived protein 1; paternally expressed gene 11 protein; retrotransposon-derived protein PEG11; Sushi-Ichi retrotransposon homolog 2; mammalian retrotransposon-derived 1; paternally expressed 11; retrotransposon-like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360", "id": "NP_001128360" }, { "name": "retrotransposon-like protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360", "id": "NP_001128360" } ], "function": [ { "annotation": "Data suggest that DNA is differentially methylated (hypomethylated) at a gene locus associated with regulation of expression of RTL1 and miR136 in type 1 diabetes; these studies were conducted using tissue bank placentas and whole blood cell DNA from children with type 1 diabetes. (RTL1 = retrotransposon-like protein 1; miR136 = microRNA 136)", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "27174469", "url": "https://glygen.org/publication/PubMed/27174469" } ] }, { "annotation": "Expression profiling of RTL1 in human breast cancer tissues and cell lines.", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "34087231", "url": "https://glygen.org/publication/PubMed/34087231" } ] }, { "annotation": "Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta.", "evidence": [ { "database": "UniProtKB", "id": "A6NKG5", "url": "https://www.uniprot.org/uniprot/A6NKG5#function" } ] }, { "annotation": "RTL1, a paternally expressed gene in a cluster of imprinted genes on chromosome 14q32.2, is associated with upd(14)pat-like and upd(14)mat-like phenotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "18176563", "url": "https://glygen.org/publication/PubMed/18176563" } ] }, { "annotation": "The results of this study suggest that hyperactive retrotransposition of L1 in neurons triggered by environmental and/or genetic risk factors may contribute to the susceptibility and pathophysiology of schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "24389010", "url": "https://glygen.org/publication/PubMed/24389010" } ] }, { "annotation": "The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "33484574", "url": "https://glygen.org/publication/PubMed/33484574" } ] }, { "annotation": "This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ] }, { "annotation": "We find that placental expression of DIO3 and RTL1) correlates with prenatal growth. Combined, these findings suggest that epigenetic programming and gene expression within the DLK1-DIO3 imprinted domain influence both prenatal and postnatal growth.", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" }, { "database": "PubMed", "id": "28502757", "url": "https://glygen.org/publication/PubMed/28502757" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "29.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "54.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "29.72", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "42.17", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "27.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "46.64", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "31.37", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "31.8", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254656", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254656" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6NKG5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NKG5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NKG5" } ], "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": [ { 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"MIEPSEDSFETMMEHKNPSSKQMESSEGSSNTTEATSGSGVRGEAGPASGPAQEKKEPPSGPLQEMEELPTDLLQDMEEPSSGPRKEIEDPPNDLLQDLEESCNGSHQARGDPLSGASDRMKEASVNPSGAREEQEAHTDLKESGREETPQEQNQTEHSTAELMAMVRSIISLYFRMQDLKEQQRVAEEILIKGINAGQLPAPKHFSGDRREFHEFIVLCQLTLQSYPRMFYNDRLRVGYVINHLSGLALEWAKALLQENSPLIGDFPAFLEAMSEVFEYRQALRVAEEAMFTIRQGGRSATEYIDEFQSLVPILGWPDEVLQAHLCQGLNEEIRHYLFRVPQPDSLDSLIVLILQIEEKLAERRAMLRLPPEARPRNLTWIDSPAPERWMVSSWLPSEVHPDINRAHLFLLLMVRVNPYHSVAVQALVDSGADGNFMDEKFAQEHYVELYEKPYPQPVQSVDGSLIGNEPVWLYTEPLVCIHQNHQESIEFDIVPSPNFSVVLGIRWLRVHAPEVDWIKGRCTFHSPYCLKNCFRPPPPCIALERHGMSLLPGLPHPYSDLADVFNPKEADDETSDQPSSDGSDDLSESEPSELQQAGDSDHSETFYECPSTAPWEPVGARMQERARLQEEYWDLQDMLTNRQDYIQMIPELFDQLHGAEWFTKLELRGTIVEESVNGHRTEDVWKAAFGLELEEMKSYQPFALSPDPIIPQNVIHFILKDMLGFFVLSYGQEVLIYSMSQEEHLHHVRQVLVRFRHHNVYCSLDKSQFHRQTVEFLGFVVTPKGVKLNKNVMTIITGYPTPGSKLSLRNFIEFVFPYRHFVERFSIIAEPLVRQLLSSYQFYWGVEEQEAFECLKRAFRKAPLLHHPKPQNPFYLETGVTGTALHASLIQIDDQTGKRACCAFYSRNISPIEVEYSQAEMKILPIRAAFMVWCRYLENTEEPIMILLNTEDLASLNNDRLTVLLPGHWVFFFSHFNFDVMELPEQDGGRALPPVRNLRWRRAFQRNTAARQTLLLASRGFPRDPSTESGEEENEEQDELNEQILRQELLAMIPIDQILNSFLAHFSMAQIRAVILHFFRGLLYWKNTLALAAILVLLRVRQCLSLRPAPAMRVARPQPQRSLRLILDSSLIAGSSITTAITQLLTQMPALVGANTIPAQELAELFLGPGRWQRNALHSQAHRGLQFTPGFWLTLCEFFGVRVTPQEGHLPALRQNRYLELHVVGDEDVVLREALQDDLQRYRQCGLHDGLQDTSQDKQDNDVQEAPPSHTAATHPPRPRHLMDPQVLEFLGSRLLHIHSADGQLHLLSREQAARALSQFLTLIYRRALPIPAWESQPREQARLEELPDEDEDANLD", "length": 1358, "header": "sp|A6NKG5-1|RTL1_HUMAN Isoform 1 of Retrotransposon-like protein 1 OS=Homo sapiens OX=9606 GN=RTL1 PE=3 SV=3 CANONICAL=A6NKG5-1" }, "isoforms": [ { "isoform_ac": "A6NKG5-1", "url": "", "sequence": { "sequence": "MIEPSEDSFETMMEHKNPSSKQMESSEGSSNTTEATSGSGVRGEAGPASGPAQEKKEPPSGPLQEMEELPTDLLQDMEEPSSGPRKEIEDPPNDLLQDLEESCNGSHQARGDPLSGASDRMKEASVNPSGAREEQEAHTDLKESGREETPQEQNQTEHSTAELMAMVRSIISLYFRMQDLKEQQRVAEEILIKGINAGQLPAPKHFSGDRREFHEFIVLCQLTLQSYPRMFYNDRLRVGYVINHLSGLALEWAKALLQENSPLIGDFPAFLEAMSEVFEYRQALRVAEEAMFTIRQGGRSATEYIDEFQSLVPILGWPDEVLQAHLCQGLNEEIRHYLFRVPQPDSLDSLIVLILQIEEKLAERRAMLRLPPEARPRNLTWIDSPAPERWMVSSWLPSEVHPDINRAHLFLLLMVRVNPYHSVAVQALVDSGADGNFMDEKFAQEHYVELYEKPYPQPVQSVDGSLIGNEPVWLYTEPLVCIHQNHQESIEFDIVPSPNFSVVLGIRWLRVHAPEVDWIKGRCTFHSPYCLKNCFRPPPPCIALERHGMSLLPGLPHPYSDLADVFNPKEADDETSDQPSSDGSDDLSESEPSELQQAGDSDHSETFYECPSTAPWEPVGARMQERARLQEEYWDLQDMLTNRQDYIQMIPELFDQLHGAEWFTKLELRGTIVEESVNGHRTEDVWKAAFGLELEEMKSYQPFALSPDPIIPQNVIHFILKDMLGFFVLSYGQEVLIYSMSQEEHLHHVRQVLVRFRHHNVYCSLDKSQFHRQTVEFLGFVVTPKGVKLNKNVMTIITGYPTPGSKLSLRNFIEFVFPYRHFVERFSIIAEPLVRQLLSSYQFYWGVEEQEAFECLKRAFRKAPLLHHPKPQNPFYLETGVTGTALHASLIQIDDQTGKRACCAFYSRNISPIEVEYSQAEMKILPIRAAFMVWCRYLENTEEPIMILLNTEDLASLNNDRLTVLLPGHWVFFFSHFNFDVMELPEQDGGRALPPVRNLRWRRAFQRNTAARQTLLLASRGFPRDPSTESGEEENEEQDELNEQILRQELLAMIPIDQILNSFLAHFSMAQIRAVILHFFRGLLYWKNTLALAAILVLLRVRQCLSLRPAPAMRVARPQPQRSLRLILDSSLIAGSSITTAITQLLTQMPALVGANTIPAQELAELFLGPGRWQRNALHSQAHRGLQFTPGFWLTLCEFFGVRVTPQEGHLPALRQNRYLELHVVGDEDVVLREALQDDLQRYRQCGLHDGLQDTSQDKQDNDVQEAPPSHTAATHPPRPRHLMDPQVLEFLGSRLLHIHSADGQLHLLSREQAARALSQFLTLIYRRALPIPAWESQPREQARLEELPDEDEDANLD", "length": 1358, "header": "sp|A6NKG5-1|RTL1_HUMAN Isoform 1 of Retrotransposon-like protein 1 OS=Homo sapiens OX=9606 GN=RTL1 PE=3 SV=3 CANONICAL=A6NKG5-1" }, "locus": { "chromosome": "14", "start_pos": 100884788, "end_pos": 100880715, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649591.1", "url": "https://www.ensembl.org/id/ENST00000649591.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497482.1", "url": "https://www.ensembl.org/id/ENSP00000497482.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes.", "journal": "Cytogenet. Genome Res.", "date": "2005", "authors": "Brandt J, Veith A M, Volff J-N", "evidence": [ { "database": "UniProtKB", "id": "A6NKG5", "url": "https://www.uniprot.org/uniprot/A6NKG5" } ], "reference": [ { "type": "PubMed", "id": "16093683", "url": "https://glygen.org/publication/PubMed/16093683" } ] }, { "title": "Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.", "journal": "Nat. Genet.", "date": "2008", "authors": "Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T", "evidence": [ { "database": "UniProtKB", "id": "A6NKG5", "url": "https://www.uniprot.org/uniprot/A6NKG5" }, { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "18176563", "url": "https://glygen.org/publication/PubMed/18176563" } ] }, { "title": "Increased l1 retrotransposition in the neuronal genome in schizophrenia.", "journal": "Neuron", "date": "2014", "authors": "Bundo M, Toyoshima M, Okada Y, Akamatsu W, Ueda J, Nemoto-Miyauchi T, Sunaga F, Toritsuka M, Ikawa D, Kakita A, Kato M, Kasai K, Kishimoto T, Nawa H, Okano H, Yoshikawa T, Kato T, Iwamoto K", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "24389010", "url": "https://glygen.org/publication/PubMed/24389010" } ] }, { "title": "Role of DNA methylation at the placental RTL1 gene locus in type 1 diabetes.", "journal": "Pediatric diabetes", "date": "2017", "authors": "Belot MP, Naderi K, Mille C, Boelle PY, Benachi A, Bougneres P, Fradin D", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "27174469", "url": "https://glygen.org/publication/PubMed/27174469" } ] }, { "title": "The placental imprinted DLK1-DIO3 domain: a new link to prenatal and postnatal growth in humans.", "journal": "American journal of obstetrics and gynecology", "date": "2017", "authors": "Prats-Puig A, Carreras-Badosa G, Bassols J, Cavelier P, Magret A, Sabench C, de Zegher F, Ibanez L, Feil R, Lopez-Bermejo A", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "28502757", "url": "https://glygen.org/publication/PubMed/28502757" } ] }, { "title": "The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2021", "authors": "Kitazawa M, Sutani A, Kaneko-Ishino T, Ishino F", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "33484574", "url": "https://glygen.org/publication/PubMed/33484574" } ] }, { "title": "Expression profiling of RTL1 in human breast cancer tissues and cell lines.", "journal": "Experimental and molecular pathology", "date": "2021", "authors": "Mahmoudi AR, Ghods R, Madjd Z, Abolhasani M, Saeednejad Zanjani L, Safaei M, Balaei Goli L, Vafaei S, Katouzian L, Soltanghoraei H, Shekarabi M, Zarnani AH", "evidence": [ { "database": "RefSeq", "id": "NP_001128360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128360" } ], "reference": [ { "type": "PubMed", "id": "34087231", "url": "https://glygen.org/publication/PubMed/34087231" } ] } ], "pathway": [ { "id": "hsa:388015", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:388015", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "M0R9G4-1", "protein_name": "Retrotransposon-like 1", "gene_name": "Rtl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MIEPSEDSFETMMELKNPSSKQMESSEGSSNTVEEAPGNSGVQAEAQAGAQVEAQEGAQVEAQEGAQEEAQEEAQEEAQEGSESGLAQEKMEPPSGPLEEMQELPTDLTQEPSTRPYEEGTNDQPEDMEETSDDSNQESSDGSNHEFDNGSNHESSCGSNQESIDVSNLESSDVSNQESSYGLHQEASYSSNQEASYSSNQEASYSSNQEASYSSNQEASYSSNQEASYSSNQEASYSSNQEASYSSNQEASYSSNQETSDNSNQESSYGANQEASYSSNQESSYGANQESSDGSNQNSIDDSNRESSYGSNQEESDPLSDVSDYSMNETMTSSETQSDQDDTDLGDEEEDDDEDSEEEDPSRSSPEEVVATMGSIISLFLQMEDLEEQQRVVERIMVQALNEDRLPRLRPFSGDRRDYNEFIMLCQITMQNYPVMVNNDQLKVRFVIHHLSDVALEWANDLLEQNSHLINDFPAFLEAMSEKFEYRHTLRVAEDAMLDIRQRNRCAADYINEFLGLIPTLGWQDEVLQAHLCLGLNEDIRRYLFRIPQPDSLRSLIILVLQIEERLAERRALLRLPPESRPRSLAWMDSPAPDKWRVSSWPPNEFHPDIDRHHFFLMLLVRVNPYHSIAVKALVDTGVEGNYMDEKFAQEHYVELYEKTHRQIIQGVDGSVIGNQLVWLCTDSLACVHQKHYEWIEFDILPSTNFSIILGIKWLQTHEPEVDWCRGRCTFHSPYCLKNCSNPPPPCIALENYSMSLLPGLPHTYSDLADVFNPREADDETSDQPSSDGSDDLSESEPSELQQAGDSDQNGVFHRRRAKETLKPVSARMQEKARQQEEYWILYDMLTDRQDYIQMVPELFDQLHAASWFTKLEVLEVDKAEMKNSVAHTEDTWRASFGFSDQQMRCYRPYTMSSFSDESNNIVHVILKDILGYFVICHGREVLVYSMSKEEHPLHVRQVLLRFRYHNIYCSLDKTQFHRQKAEILGFSISPKGVKLSKKLTDIMVECPVPETRRCLQGVIELFYPYRHFVEHFSVMAEPLVKQLLSSEPYYWGEEEQEAFDSLKRAFSRAPVLYHPKPQNPFYLETGTVGSFLYASLIQTDDATGRKATCAFYSRPLSLMEVEYPQVEMRILPIRAAFMVWFRYLENTEEPIMILLNTEDLASLNNDRLTVLLPGHWVFFFSHFNFSVMEMPDQDDTQALFRSCWNQRGFRARFLRPLLLMAMRAGYMDSSSDSEDEDEDQDDDDEEDSEEDSEQIELNRQTMMRDLLATIPMDRILNGFLVRFTVAQIRAVVLNFFRGLIYWRTVLGVSALLVMSRARRPLSPLPEPSLEVARPQPRPTLRLILDPTLIASSGMATAIAQLLRQMPPLVGANALPARELAELVLSPRCWHRNALHSQPPRGMRFTPGFWLTLCEFFGVRVNPEEDIFPDPYQHRYLELHVVGDEDVVLREALQDDLQRYRQCGLHDGLQDTSQDAQDNDVQEDPLGDQEAVTFRPRNLLDPEVLDFLNNRLLYTLGSDGRLTLLSRDQVARTLTRFLTMASRMALPSLAREQARLEELSDSDEELD", "length": 1567 }, "evidence": [ { "id": "A6NKG5", "url": "https://omabrowser.org/oma/group/A6NKG5/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7M732-1", "protein_name": "Retrotransposon-like protein 1", "gene_name": "Rtl1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MIEPSEDSFETMMELKNPSSKQMESSEGSSNTVEETPGSSGAQAGAQAGAQAEAQAETQVEAQAEAQAEAQVEAQVEAQAGSDSGPAQEEKEPPSGPLKEMQELPTNLLQEVEEPSSGPHQEMQELPTDLLQEVEEPSSGPHQEMQELPTDLLREVEEPSSGPYQEMQELPTDLLREVEEPSSGPYQEMQELPTDLLREVEEPSSGPYQEMQELPTDLLREVEEPSSGPYQEMQELPTDLLREVEEPSSDPCEASSNDLPQDMEESSDDGSNQESSDGSNHELSNGSNHESSFGSNPESSDVSNLESSGGSNQESSDGSQKESSYDSNPELSDNSNQELSDNSNQESSDSSNQSSDISNQEGSEPLSEASDYSMDETINSSETQSDQDDTDLGDDEEEEEEEGGEEEGQPKNSPEEVVATMGNVISLFLRMQDLKEQQRVAERLMMQAINEGRLPSLRPFSGDRRDYHEFVVLCQMTMQNYPSMLYNDELRVKFVIRHLTDLALEWANDLVEQNSPVINNFSAFLEAMSEKFEYRQTLRVAEDAMFNIRQGNRCAADYINEFRGLIPTLGWPDEVLQAHLCQGLNEEIRHYLFRIPQPNSLDNLIVLVLQLEEKLAERRALLRLPPESRPRSVAWMDAPAPEKWRVSSWLPNEFHPDIDRDHLFLLLLVRVDPYHSVAVRALVDSGAEGNYMDERFAQEHYVELYEKPYPQIIQGVDGIPIGNEPVWLCTEPLVCVHQKHYEYIEFDILPSPNFSIVLGMKWLRTHAPEVDWMRGRCTFHSPYCLRNCFTPPPPCIALETYSISLLPGLPHTYSDLADVFNPREADDETSDQPSSDGSDDLSESEPSELQQAGDSDQSGVFYESGARETLEPVSARMQEKARQQEKAREQEEYWILYDMLTDRQDYTQMVPELFDQLHGAAWFTKLELLGIKESEMRHTVTHTEDTWRASFGFGLHQMRCYRPFTMNSYSDEGNNIVHFILKDILGLFVICHGREVLVYSMSQEEHSQHVRQVLVRFRYHNIYCSLDKTQFHRQTAEILGFNISPKGVKLNKNLMNLIVGCPVPGSRRCLQSVIDLVYPYRHFVENFAVIAAPLVRQLLSSEPYYWGEEEQEALESLKRAFRKSPVLYHPKPQNPFYLETDITGSFLSASLVQTDDETGKKSTCAFYSRPLSTMEVEYPRVEMRILPIRAAFMVWCRYLENTEEPIMILLNTEDLASLNNDRLTVLLPGHWVFFFSHFNFGVMEMPAEGDTQALFRRCWNQRGFRARFLRPLLLMSIRANLRYFDRSSETEDKEDDEEEEEEDGEEEEGEEEEDGEEEEGEEEEDGEEEEEEEEDDEEEEGEEEEDGEEEEGEEEEDGEEEEGEEEEDGEEEEGEEEGEEEEEGEEEEEEEEDEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEDEEEEDEEEEDEEVPSMVRELLAAIPMDHILNGLLAHFSVAQIRAVVLNFFRGLLYWKSLLGVAAVLVMLRARQPLSPVPAPNLEVARPQHRHTLRLILDSTLIASSGMATAIAQLLSQMPPLVGANTLPARELAELFLGPRCWHRNALHSQPPRGMRFTPGFWLTLCEFFGVRVNPEDDVFPDPYQHRYLELHVVGDEDVVLREALQDDLQRYRQCGLHDGLQDTSQDAQDNDVQEDLFGDQEAVTFRPRNLLDPEVLDFLNNRLLYTLGTDGRLTLLSRDQVAQALTRFLAMASRMALPSPAREQARLEELSDSDDELD", "length": 1744 }, "evidence": [ { "id": "45936069", "url": "http://www.informatics.jax.org/homology/45936069", "database": "MGI" }, { "id": "A6NKG5", "url": "https://omabrowser.org/oma/group/A6NKG5/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A6NKG5", "url": "https://www.uniprot.org/uniprot/A6NKG5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 104, "end_pos": 106, "annotation": "n_glycosylation_sequon" }, { "start_pos": 154, "end_pos": 156, "annotation": "n_glycosylation_sequon" }, { "start_pos": 31, "end_pos": 33, "annotation": "n_glycosylation_sequon" }, { "start_pos": 378, "end_pos": 380, "annotation": "n_glycosylation_sequon" }, { "start_pos": 499, "end_pos": 501, "annotation": "n_glycosylation_sequon" }, { "start_pos": 909, "end_pos": 911, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 104, "end_pos": 106 }, { "start_pos": 154, "end_pos": 156 }, { "start_pos": 31, "end_pos": 33 }, { "start_pos": 378, "end_pos": 380 }, { "start_pos": 499, "end_pos": 501 }, { "start_pos": 909, "end_pos": 911 } ] }, "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_reported_with_glycan", "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }