{ "uniprot_canonical_ac": "A6PVC2-1", "uniprot_ac": "A6PVC2", "uniprot_id": "TTLL8_HUMAN", "mass": { "chemical_mass": 94676.0, "monoisotopic_mass": 94676.0 }, "refseq": {}, "gene_names": [ { "name": "TTLL8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6PVC2", "id": "A6PVC2" } ], "protein_names": [ { "name": "Protein monoglycylase TTLL8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6PVC2" }, { "name": "6.3.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6PVC2" }, { "name": "Tubulin--tyrosine ligase-like protein 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6PVC2" } ], "function": [ { "annotation": "Monoglycylase which modifies both tubulin and non-tubulin proteins, adding a single glycine to the gamma-carboxyl groups of specific glutamate residues to generate monoglycine side chains within the C-terminal tail of target proteins. Not involved in elongation step of the polyglycylation reaction. Preferentially monoglycylates alpha-tubulin over beta-tubulin. Together with TTLL3, mediates microtubule glycylation of primary and motile cilia, which is essential for their stability and maintenance. Together with TTLL3, glycylates sperm flagella which regulates axonemal dynein motor activity, thereby controlling flagellar beat, directional sperm swimming and male fertility. Monoglycylates non-tubulin proteins such as ANP32A, ANP32B, SET, NCL and NAP1.", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2#function" }, { "database": "UniProtKB", "id": "A4Q9F1", "url": "https://www.uniprot.org/uniprot/A4Q9F1#function" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "22.7", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "20.92", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "21.03", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "20.1", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "25.16", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "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", 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"DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A6PVC2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6PVC2" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "common_name": "Human" } ], "gene": [ { "name": "TTLL8", "url": "https://www.uniprot.org/uniprot/A6PVC2", "locus": { "chromosome": "22", "start_pos": 50018575, "end_pos": 50058298, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000138892", "url": "https://www.ensembl.org/id/ENSG00000138892" } ] } } ], "crossref": [ { "id": "ENSG00000138892", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138892", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TTLL8", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL8", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "34000", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34000", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR004344", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004344", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "619193", "url": "http://www.omim.org/entry/619193", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A6PVC2", "url": "https://www.nextprot.org/entry/NX_A6PVC2", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "A6PVC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6PVC2", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RMAFIED", "url": "https://omabrowser.org/oma/group/RMAFIED/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR45870", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45870", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45870:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45870:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03133", "url": "http://pfam.xfam.org/family/PF03133", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6PVC2", "url": "https://pharos.nih.gov/targets/A6PVC2", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6PVC2", "url": "http://purl.obolibrary.org/obo/PR_A6PVC2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "67180", "url": "https://www.rhea-db.org/rhea/67180", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A1C7CYW9", "url": "https://www.uniprot.org/uniprot/A0A1C7CYW9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1C7CYW9-1", "url": "https://www.uniprot.org/uniprot/A0A1C7CYW9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6PVC2-1", "url": "https://www.uniprot.org/uniprot/A6PVC2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6PVC2-2", "url": "https://www.uniprot.org/uniprot/A6PVC2-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPERKGLSLASSSDGDGREENKLKQGISQDLASSSRLDRYKIARQLTEKAIKEKKIFSIYGHYPVVRAALRRKGWVEKKFHFLPKVIPDVEDEGARVNDDTCAKVKENQEMALEKTDNIHDVMSRLVKNEMPYLLWTIKRDIIDYHSLTYDQMLNHYAKTASFTTKIGLCVNMRSLPWYVPANPDSFFPRCYSLCTESEQQEFLEDFRRTMASSILKWVVSHQSCSRSSRSKPRDQREEAGSSDLSSRQDAENAEAKLRGLPGQLVDIACKVCQAYLGQLEHEDIDTSADAVEDLTEAEWEDLTQQYYSLVHGDAFISNSRNYFSQCQALLNRITSVNPQTDIDGLRNIWIIKPAAKSRGRDIVCMDRVEEILELAAADHPLSRDNKWVVQKYIETPLLICDTKFDIRQWFLVTDWNPLTIWFYKESYLRFSTQRFSLDKLDSAIHLCNNAVQKYLKNDVGRSPLLPAHNMWTSTRFQEYLQRQGRGAVWGSVIYPSMKKAIAHAMKVAQDHVEPRKNSFELYGADFVLGRDFRPWLIEINSSPTMHPSTPVTAQLCAQVQEDTIKVAVDRSCDIGNFELLWRQPVVEPPPFSGSDLCVAGVSVRRARRQVLPVCNLKASASLLDAQPLKARGPSAMPDPAQGPPSPALQRDLGLKEEKGLPLALLAPLRGAAESGGAAQPTRTKAAGKVELPACPCRHVDSQAPNTGVPVAQPAKSWDPNQLNAHPLEPVLRGLKTAEGALRPPPGGKGEGTVCSRLPHHGHHVAACQTTGTTWDGGPGVCFLRQLLASELPMGPGLPRDPRAPPCLVCRGLLPPAGPCKRCRSFCAAVLQGASFVRLGGRSCSPRTP", "length": 850, "header": "sp|A6PVC2-1|TTLL8_HUMAN Isoform 1 of Protein monoglycylase TTLL8 OS=Homo sapiens OX=9606 GN=TTLL8 PE=2 SV=4 CANONICAL=A6PVC2-1" }, "isoforms": [ { "isoform_ac": "A0A1C7CYW9-1", "url": "", "sequence": { "sequence": "MEPERKGLSLASSSDGDGREENKLKQGISQDLASSSRLDRYKIARQLTEKAIKEKKIFSIYGHYPVVRAALRRKGWVEKKFHFLPKVIPDVEDEGARVNDDTCAKVKENQEMALEKTDNIHDVMSRLVKNEMPYLLWTIKRDIIDYHSLTYDQMLNHYAKTASFTTKIGLCVNMRSLPWYVPANPDSFFPRCYSLCTESEQQEFLEDFRRTMASSILKWVVSHQSCSRSSRSKPRDQREEAGSSDLSSRQDAENAEAKLRGLPGQLVDIACKVCQAYLGQLEHEDIDTSADAVEDLTEAEWEDLTQQYYSLVHGDAFISNSRNYFSQCQALLNRITSVNPQTDIDGLRNIWIIKPAAKSRGRDIVCMDRVEEILELAAADHPLSRDNKWVVQKYIETPLLICDTKFDIRQWFLVTDWNPLTIWFYKESYLRFSTQRFSLDKLDSAIHLCNNAVQKYLKNDVGRSPLLPAHNMWTSTRFQEYLQRQGRGAVWGSVIYPSMKKAIAHAMKVAQDHVEPRKNSFELYGADFVLGRDFRPWLIEINSSPTMHPSTPVTAQLCAQVQEDTIKVAVDRSCDIGNFELLWRQPVVEPPPFSGSDLCVAGVSVRRARRQVLPVCNLKASASLLDAQPLKARGPSAMPDPAQGPPSPALQRDLGLKEEKGLPLALLAPLRGAAESGGAAQPTRTKAAGKVELPACPCRHVDSQAPNTGVPVAQPAKSWDPNQLNAHPLEPVLRGLKTAEGALRPPPGGKGS", "length": 752, "header": "tr|A0A1C7CYW9-1|TTLL8_HUMAN Computationally mapped isoform of Protein monoglycylase TTLL8 OS=Homo sapiens OX=9606 GN=TTLL8 PE=2 SV=2 CANONICAL=A6PVC2-1" }, "locus": { "chromosome": "22", "start_pos": 50056935, "end_pos": 50018787, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433387.2", "url": "https://www.ensembl.org/id/ENST00000433387.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000392252.2", "url": "https://www.ensembl.org/id/ENSP00000392252.2" } ] } }, { "isoform_ac": "A6PVC2-1", "url": "", "sequence": { "sequence": "MEPERKGLSLASSSDGDGREENKLKQGISQDLASSSRLDRYKIARQLTEKAIKEKKIFSIYGHYPVVRAALRRKGWVEKKFHFLPKVIPDVEDEGARVNDDTCAKVKENQEMALEKTDNIHDVMSRLVKNEMPYLLWTIKRDIIDYHSLTYDQMLNHYAKTASFTTKIGLCVNMRSLPWYVPANPDSFFPRCYSLCTESEQQEFLEDFRRTMASSILKWVVSHQSCSRSSRSKPRDQREEAGSSDLSSRQDAENAEAKLRGLPGQLVDIACKVCQAYLGQLEHEDIDTSADAVEDLTEAEWEDLTQQYYSLVHGDAFISNSRNYFSQCQALLNRITSVNPQTDIDGLRNIWIIKPAAKSRGRDIVCMDRVEEILELAAADHPLSRDNKWVVQKYIETPLLICDTKFDIRQWFLVTDWNPLTIWFYKESYLRFSTQRFSLDKLDSAIHLCNNAVQKYLKNDVGRSPLLPAHNMWTSTRFQEYLQRQGRGAVWGSVIYPSMKKAIAHAMKVAQDHVEPRKNSFELYGADFVLGRDFRPWLIEINSSPTMHPSTPVTAQLCAQVQEDTIKVAVDRSCDIGNFELLWRQPVVEPPPFSGSDLCVAGVSVRRARRQVLPVCNLKASASLLDAQPLKARGPSAMPDPAQGPPSPALQRDLGLKEEKGLPLALLAPLRGAAESGGAAQPTRTKAAGKVELPACPCRHVDSQAPNTGVPVAQPAKSWDPNQLNAHPLEPVLRGLKTAEGALRPPPGGKGEGTVCSRLPHHGHHVAACQTTGTTWDGGPGVCFLRQLLASELPMGPGLPRDPRAPPCLVCRGLLPPAGPCKRCRSFCAAVLQGASFVRLGGRSCSPRTP", "length": 850, "header": "sp|A6PVC2-1|TTLL8_HUMAN Isoform 1 of Protein monoglycylase TTLL8 OS=Homo sapiens OX=9606 GN=TTLL8 PE=2 SV=4 CANONICAL=A6PVC2-1" }, "locus": {} }, { "isoform_ac": "A6PVC2-2", "url": "", "sequence": { "sequence": "MRLLDGKQTSRYSENACEKKIFSIYGHYPVVRAALRRKGWVEKKFHFLPKVIPDVEDEGARVNDDTCAKVKENQEMALEKTDNIHDVMSRLVKNEMPYLLWTIKRDIIDYHSLTYDQMLNHYAKTASFTTKIGLCVNMRSLPWYVPANPDSFFPRCYSLCTESEQQEFLEDFRRTMASSILKWVVSHQSCSRSSRSKPRDQREEAGSSDLSSRQDAENAEAKLRGLPGQLVDIACKVCQAYLGQLEHEDIDTSADAVEDLTEAEWEDLTQQYYSLVQVPLGSSIVLCIFKIQKVMMSFEPPTARDRQCQALLNRITSVNPQTDIDGLRNIWIIKPAAKSRGRGESPDIVCMDRVEEILELAAADHPLSRDNKWVVQKYIETPLLICDTKFDIRQWFLVTDWNPLTIWFYKESYLRFSTQRFSLDKLDSAIHLCNNAVQKYLKNDVGRSPLLPAHNMWTSTRFQEYLQRQGRGAVWGSVIYPSMKKAIAHAMKVAQDHVEPRKNSFELYGADFVLGRDFRPWLIEINSSPTMHPSTPVTAQLCAQVQEDTIKVAVDRSCDIGNFELLWRQPVVEPPPFSGSDLCVAGVSVRRARRQVLPVCNLKASASLLDAQPLKARGPSAMPDPAQGPPSPALQRDLGLKEEKGLPLALLAPLRGAAESGGAAQPTRTKAAGKVELPACPCRHVDSQAPNTGVPVAQPAKSWDPNQLNAHPLEPVLRGLKTAEGALRPPPGGKGEGTVCSRLPHHGHHVAACQTTGTTWDGGPGVCFLRQLLASELPMGPGLPRDPRAPPCLVCRGLLPPAGPCKRCRSFCAAVLQGASFVRLGGRSCSPRTP", "length": 834, "header": "sp|A6PVC2-2|TTLL8_HUMAN Isoform 2 of Protein monoglycylase TTLL8 OS=Homo sapiens OX=9606 GN=TTLL8 PE=2 SV=4 CANONICAL=A6PVC2-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A6PVC2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6PVC2" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Steady-state kinetic mechanism of bovine brain tubulin: tyrosine ligase.", "journal": "The Biochemical journal", "date": "1992", "authors": "Deans NL, Allison RD, Purich DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "1520276", "url": "https://glygen.org/publication/PubMed/1520276" } ] }, { "title": "Tubulin polyglutamylase enzymes are members of the TTL domain protein family.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Janke C, Rogowski K, Wloga D, Regnard C, Kajava AV, Strub JM, Temurak N, van Dijk J, Boucher D, van Dorsselaer A, Suryavanshi S, Gaertig J, Edde B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "15890843", "url": "https://glygen.org/publication/PubMed/15890843" } ] }, { "title": "TTLL7 is a mammalian beta-tubulin polyglutamylase required for growth of MAP2-positive neurites.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Ikegami K, Mukai M, Tsuchida J, Heier RL, Macgregor GR, Setou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "16901895", "url": "https://glygen.org/publication/PubMed/16901895" } ] }, { "title": "Nna1-like proteins are active metallocarboxypeptidases of a new and diverse M14 subfamily.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2007", "authors": "Rodriguez de la Vega M, Sevilla RG, Hermoso A, Lorenzo J, Tanco S, Diez A, Fricker LD, Bautista JM, Aviles FX", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "17244817", "url": "https://glygen.org/publication/PubMed/17244817" } ] }, { "title": "A novel subfamily of mouse cytosolic carboxypeptidases.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2007", "authors": "Kalinina E, Biswas R, Berezniuk I, Hermoso A, Aviles FX, Fricker LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "17244818", "url": "https://glygen.org/publication/PubMed/17244818" } ] }, { "title": "Loss of alpha-tubulin polyglutamylation in ROSA22 mice is associated with abnormal targeting of KIF1A and modulated synaptic function.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Ikegami K, Heier RL, Taruishi M, Takagi H, Mukai M, Shimma S, Taira S, Hatanaka K, Morone N, Yao I, Campbell PK, Yuasa S, Janke C, Macgregor GR, Setou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "17360631", "url": "https://glygen.org/publication/PubMed/17360631" } ] }, { "title": "A targeted multienzyme mechanism for selective microtubule polyglutamylation.", "journal": "Molecular cell", "date": "2007", "authors": "van Dijk J, Rogowski K, Miro J, Lacroix B, Edde B, Janke C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "17499049", "url": "https://glygen.org/publication/PubMed/17499049" } ] }, { "title": "TTLL10 is a protein polyglycylase that can modify nucleosome assembly protein 1.", "journal": "FEBS letters", "date": "2008", "authors": "Ikegami K, Horigome D, Mukai M, Livnat I, MacGregor GR, Setou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "18331838", "url": "https://glygen.org/publication/PubMed/18331838" } ] }, { "title": "Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation.", "journal": "Cell", "date": "2009", "authors": "Rogowski K, Juge F, van Dijk J, Wloga D, Strub JM, Levilliers N, Thomas D, Bre MH, Van Dorsselaer A, Gaertig J, Janke C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "19524510", "url": "https://glygen.org/publication/PubMed/19524510" } ] }, { "title": "TTLL3 Is a tubulin glycine ligase that regulates the assembly of cilia.", "journal": "Developmental cell", "date": "2009", "authors": "Wloga D, Webster DM, Rogowski K, Bre MH, Levilliers N, Jerka-Dziadosz M, Janke C, Dougan ST, Gaertig J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "19531357", "url": "https://glygen.org/publication/PubMed/19531357" } ] }, { "title": "Identification of tubulin deglutamylase among Caenorhabditis elegans and mammalian cytosolic carboxypeptidases (CCPs).", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Kimura Y, Kurabe N, Ikegami K, Tsutsumi K, Konishi Y, Kaplan OI, Kunitomo H, Iino Y, Blacque OE, Setou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "20519502", "url": "https://glygen.org/publication/PubMed/20519502" } ] }, { "title": "A family of protein-deglutamylating enzymes associated with neurodegeneration.", "journal": "Cell", "date": "2010", "authors": "Rogowski K, van Dijk J, Magiera MM, Bosc C, Deloulme JC, Bosson A, Peris L, Gold ND, Lacroix B, Bosch Grau M, Bec N, Larroque C, Desagher S, Holzer M, Andrieux A, Moutin MJ, Janke C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "21074048", "url": "https://glygen.org/publication/PubMed/21074048" } ] }, { "title": "Structural basis of tubulin tyrosination by tubulin tyrosine ligase.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Prota AE, Magiera MM, Kuijpers M, Bargsten K, Frey D, Wieser M, Jaussi R, Hoogenraad CC, Kammerer RA, Janke C, Steinmetz MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "23358242", "url": "https://glygen.org/publication/PubMed/23358242" } ] }, { "title": "The cytosolic carboxypeptidases CCP2 and CCP3 catalyze posttranslational removal of acidic amino acids.", "journal": "Molecular biology of the cell", "date": "2014", "authors": "Tort O, Tanco S, Rocha C, Bieche I, Seixas C, Bosc C, Andrieux A, Moutin MJ, Aviles FX, Lorenzo J, Janke C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "25103237", "url": "https://glygen.org/publication/PubMed/25103237" } ] }, { "title": "Post-translational modifications of tubulin: pathways to functional diversity of microtubules.", "journal": "Trends in cell biology", "date": "2015", "authors": "Song Y, Brady ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "25468068", "url": "https://glygen.org/publication/PubMed/25468068" } ] }, { "title": "Writing and Reading the Tubulin Code.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Yu I, Garnham CP, Roll-Mecak A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "25957412", "url": "https://glygen.org/publication/PubMed/25957412" } ] }, { "title": "Vasohibins/SVBP are tubulin carboxypeptidases (TCPs) that regulate neuron differentiation.", "journal": "Science (New York, N.Y.)", "date": "2017", "authors": "Aillaud C, Bosc C, Peris L, Bosson A, Heemeryck P, Van Dijk J, Le Friec J, Boulan B, Vossier F, Sanman LE, Syed S, Amara N, Coute Y, Lafanechere L, Denarier E, Delphin C, Pelletier L, Humbert S, Bogyo M, Andrieux A, Rogowski K, Moutin MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "29146868", "url": "https://glygen.org/publication/PubMed/29146868" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "A6PVC2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6PVC2" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Tubulinyl-tyrosine carboxypeptidase from chicken brain: properties and partial purification.", "journal": "Journal of neurochemistry", "date": "1980", "authors": "Argarana CE, Barra HS, Caputto R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8955332", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332" } ], "reference": [ { "type": "PubMed", "id": "7452228", "url": "https://glygen.org/publication/PubMed/7452228" } ] } ], "pathway": [ { "id": "R-HSA-8955332", "name": "Carboxyterminal post-translational modifications of tubulin", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332", "resource": "Reactome", "description": "Carboxyterminal post-translational modifications of tubulin" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "protein polyglycylation", "id": "GO:0018094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018094", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "protein-glycine ligase activity, initiating", "id": "GO:0070736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070736", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" }, { "name": "protein-glycine ligase activity", "id": "GO:0070735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070735", "evidence": [ { "database": "UniProtKB", "id": "A6PVC2", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 542, "end_pos": 544, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "67180", "name": "", "equation": "ATP + glycine + L-glutamyl-[protein] = ADP + glycyl-L-glutamyl-[protein] + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Y4R7-1", "A6PVC2-1", "A4Q9E5-1", "A4Q9F1-1" ], "evidence": [ { "id": "67180", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67180" } ] }, { "id": "R-HSA-8867370", "name": "TTLL3, TTLL8, TTLL10 polyglycylate tubulin", "equation": "", "summary": "Tubulin is modified by glutamylation and glycylation, the additon of peptide branches made of glutamyl or glycyl residues respectively, which are attached to the gamma-carboxyl group of glutamic acids within the C-terminal tail domains of alpha- and beta-tubulin. They are added by members of the tubulin tyrosine ligase (TTL family). TTLL3, 8, and 10 are glycylases (Ikegami et al. 2008, Ikegami and Setou, 2009; Rogowski et al. 2009; Wloga et al. 2009) with TTLL3 and 8 serving as initiases, and TTLL10 serving as an elongase. In this event polyglycation is arbitrarily shown on only one tubulin protofilament within the microtubule.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A6PVC2-1", "P0DPH7-1", "P68363-1", "Q9Y4R7-1", "Q6PEY2-1", "P68366-1", "Q71U36-1", "A6NHL2-1", "Q9NY65-1", "Q9BQE3-1", "Q9H853-1", "P0DPH8-1" ], "evidence": [ { "id": "R-HSA-8867370", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867370" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A4Q9E5", "gene_name": "Ttll3", "activity": [ { "ec_number": "6.3.2.-", "activity": "", "evidence": [ { "id": "A4Q9E5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4Q9E5" } ] } ] }, { "uniprot_ac": "A4Q9F1", "gene_name": "Ttll8", "activity": [ { "ec_number": "6.3.2.-", "activity": "", "evidence": [ { "id": "A4Q9F1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4Q9F1" } ] } ] }, { "uniprot_ac": "A6NHL2", "gene_name": "TUBAL3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "A6NHL2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NHL2" } ] } ] }, { "uniprot_ac": "A6PVC2", "gene_name": "TTLL8", "activity": [ { "ec_number": "6.3.2.-", "activity": "", "evidence": [ { "id": "A6PVC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6PVC2" } ] } ] }, { "uniprot_ac": "P0DPH7", "gene_name": "TUBA3C", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P0DPH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPH7" } ] } ] }, { "uniprot_ac": "P0DPH8", "gene_name": "TUBA3D", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P0DPH8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPH8" } ] } ] }, { "uniprot_ac": "P68363", "gene_name": "TUBA1B", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68363", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68363" } ] } ] }, { "uniprot_ac": "P68366", "gene_name": "TUBA4A", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P68366", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P68366" } ] } ] }, { "uniprot_ac": "Q6PEY2", "gene_name": "TUBA3E", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q6PEY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PEY2" } ] } ] }, { "uniprot_ac": "Q71U36", "gene_name": "TUBA1A", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q71U36", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q71U36" } ] } ] }, { "uniprot_ac": "Q9BQE3", "gene_name": "TUBA1C", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q9BQE3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BQE3" } ] } ] }, { "uniprot_ac": "Q9H853", "gene_name": "TUBA4B", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q9H853", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H853" } ] } ] }, { "uniprot_ac": "Q9NY65", "gene_name": "TUBA8", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q9NY65", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NY65" } ] } ] }, { "uniprot_ac": "Q9Y4R7", "gene_name": "TTLL3", "activity": [ { "ec_number": "6.3.2.-", "activity": "", "evidence": [ { "id": "Q9Y4R7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y4R7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", 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