{ "uniprot_canonical_ac": "A6NER0-1", "uniprot_ac": "A6NER0", "uniprot_id": "TBC3F_HUMAN", "mass": { "chemical_mass": 62185.0, "monoisotopic_mass": 62185.0 }, "refseq": { "ac": "NP_115634", "name": "TBC1 domain family member 3F", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634" }, "gene_names": [ { "name": "TBC1D3F", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NER0", "id": "A6NER0" }, { "name": "TBC1D3; TBC1D3G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "id": "NP_115634" }, { "name": "TBC1D3E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NER0", "id": "A6NER0" }, { "name": "TBC1D3F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "id": "NP_115634" } ], "protein_names": [ { "name": "TBC1 domain family member 3F", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NER0" }, { "name": "TBC1 domain family member 3; prostate cancer gene 17 protein; protein TRE17-alpha; TBC1 domain family member 3G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "id": "NP_115634" }, { "name": "TBC1 domain family member 3F", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "id": "NP_115634" } ], "function": [ { "annotation": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0#function" } ] }, { "annotation": "PRC17 is amplified in 15% of prostate cancers, it is highly overexpressed in approximately one-half of metastatic prostate tumors.", "evidence": [ { "database": "RefSeq", "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634" }, { "database": "PubMed", "id": "12359748", "url": "https://glygen.org/publication/PubMed/12359748" } ] }, { "annotation": "We describe eight highly related TBC1D3 paralogues located on Chromosome 17q12 that display specific transcription patterns in human tissues, and that pattern is altered in several primary prostate tumors in comparison to healthy prostate tissues.", "evidence": [ { "database": "RefSeq", "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634" }, { "database": "PubMed", "id": "16863688", "url": "https://glygen.org/publication/PubMed/16863688" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "43.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "44.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "38", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "40.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "30.98", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "29.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "33.06", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A6NER0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NER0" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A6NER0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NER0" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A6NER0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NER0" } ], "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": "" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0" } ], "common_name": "Human" } ], "gene": [ { "name": "TBC1D3F", "url": "https://www.uniprot.org/uniprot/A6NER0", "locus": { "chromosome": "17", "start_pos": 36428618, "end_pos": 36439566, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000275954", "url": "https://www.ensembl.org/id/ENSG00000275954" } ] } } ], "crossref": [ { "id": "ENSG00000275954", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000275954", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TBC1D3F", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D3F", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "84218", "url": "https://www.ncbi.nlm.nih.gov/gene/84218", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18257", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18257", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A6NER0", "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NER0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000195", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000195", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:84218", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84218", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610809", "url": "http://www.omim.org/entry/610809", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A6NER0", "url": "https://www.nextprot.org/entry/NX_A6NER0", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PTHR47219", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47219", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47219:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47219:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00566", "url": "http://pfam.xfam.org/family/PF00566", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NER0", "url": "https://pharos.nih.gov/targets/A6NER0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NER0", "url": "http://purl.obolibrary.org/obo/PR_A6NER0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT91", "url": "https://www.uniprot.org/uniprot/A0A087WT91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT91-1", "url": "https://www.uniprot.org/uniprot/A0A087WT91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NER0-1", "url": "https://www.uniprot.org/uniprot/A6NER0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVSGTLRKHIFFRDRYGTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQGFHSPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLVEGEQALMPITRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVLKHLRASMKKLTRKKGDVPPPAKPEQGSSASRPVPASRGGKTLCKGDRQAPPGPPARFPRPIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFLQWNSMPRLPTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQAEHPAERVRSAFAAPSTDSDQGTPFRARDEQQCAPTSGPCLCGLHLESSQFPPGF", "length": 549, "header": "sp|A6NER0-1|TBC3F_HUMAN Isoform 1 of TBC1 domain family member 3F OS=Homo sapiens OX=9606 GN=TBC1D3F PE=1 SV=3 CANONICAL=A6NER0-1" }, "isoforms": [ { "isoform_ac": "A0A087WT91-1", "url": "", "sequence": { "sequence": "MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVSGTLRKHIFFRDRYGTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQGFHSPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLVEGEQALMPITRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVLKHLRASMKKLTRKKGDVPPPAKPEQGSSASRPVPASRGGKTLCKGDRQAPPGPPARFPRPIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFLQWNSMPRLPTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQA", "length": 495, "header": "tr|A0A087WT91-1|A0A087WT91_HUMAN Computationally mapped isoform of TBC1 domain family member 3F OS=Homo sapiens OX=9606 GN=TBC1D3F PE=4 SV=1 CANONICAL=A6NER0-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 672885, "end_pos": 663997, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634036.1", "url": "https://www.ensembl.org/id/ENST00000634036.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487737.1", "url": "https://www.ensembl.org/id/ENSP00000487737.1" } ] } }, { "isoform_ac": "A6NER0-1", "url": "", "sequence": { "sequence": "MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRKSKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVSGTLRKHIFFRDRYGTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQGFHSPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLVEGEQALMPITRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVLKHLRASMKKLTRKKGDVPPPAKPEQGSSASRPVPASRGGKTLCKGDRQAPPGPPARFPRPIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFLQWNSMPRLPTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQAEHPAERVRSAFAAPSTDSDQGTPFRARDEQQCAPTSGPCLCGLHLESSQFPPGF", "length": 549, "header": "sp|A6NER0-1|TBC3F_HUMAN Isoform 1 of TBC1 domain family member 3F OS=Homo sapiens OX=9606 GN=TBC1D3F PE=1 SV=3 CANONICAL=A6NER0-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer.", "journal": "Cancer research", "date": "2002", "authors": "Pei L, Peng Y, Yang Y, Ling XB, Van Eyndhoven WG, Nguyen KC, Rubin M, Hoey T, Powers S, Li J", "evidence": [ { "database": "RefSeq", "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634" } ], "reference": [ { "type": "PubMed", "id": "12359748", "url": "https://glygen.org/publication/PubMed/12359748" } ] }, { "title": "TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12.", "journal": "Genomics", "date": "2006", "authors": "Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X, Stahl PD", "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0" }, { "database": "RefSeq", "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634" } ], "reference": [ { "type": "PubMed", "id": "16863688", "url": "https://glygen.org/publication/PubMed/16863688" } ] }, { "title": "Diversity of human copy number variation and multicopy genes.", "journal": "Science", "date": "2010", "authors": "Sudmant Peter H, Kitzman Jacob O, Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, , Eichler Evan E", "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0" } ], "reference": [ { "type": "PubMed", "id": "21030649", "url": "https://glygen.org/publication/PubMed/21030649" } ] } ], "pathway": [ { "id": "hsa:84218", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84218", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A6NER0", "url": "https://www.uniprot.org/uniprot/A6NER0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }