{ "uniprot_canonical_ac": "A0A0G2K5B0-1", "uniprot_ac": "A0A0G2K5B0", "uniprot_id": "A0A0G2K5B0_RAT", "mass": { "chemical_mass": 63410.0, "monoisotopic_mass": 63410.0 }, "refseq": { "ac": "NP_001099239", "name": "TBC1 domain family member 24", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099239" }, "gene_names": [ { "name": "Tbc1d24", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0", "id": "A0A0G2K5B0" } ], "protein_names": [ { "name": "TBC1 domain family member 24", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A0G2K5B0" }, { "name": "TBC1 domain family member 24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099239", "id": "NP_001099239" } ], "function": [ { "annotation": "Findings demonstrate an essential role of TBC1D24 in neuronal migration and maturation and highlight the physiological relevance of the ARF6-dependent membrane-trafficking pathway in brain development.", "evidence": [ { "database": "RefSeq", "id": "NP_001099239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099239" }, { "database": "PubMed", "id": "24469796", "url": "https://glygen.org/publication/PubMed/24469796" } ] } ], "disease": [ { "disease_id": "DOID:0050563", "recommended_name": { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." }, "synonyms": [ { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic hearing loss", "description": "" }, { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic hereditary hearing loss", "description": "" } ], "evidence": [ { "id": "0050563", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ] }, { "disease_id": "DOID:0060475", "recommended_name": { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, "synonyms": [ { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "childhood onset epileptic encephalopathy", "description": "" }, { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "EEOC", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "mae", "description": "" }, { "id": "MIM:616421", "resource": "MIM", "url": "https://www.omim.org/entry/616421", "name": "Myoclonic-atonic epilepsy", "description": "Myoclonic-atonic epilepsy" } ], "evidence": [ { "id": "0060475", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "disease_id": "DOID:0080449", "recommended_name": { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "developmental and epileptic encephalopathy 16", "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "early infantile epileptic encephalopathy 16", "description": "" }, { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "DEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "developmental and epileptic encephalopathy, 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "DEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "EIEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "developmental and epileptic encephalopathy 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "epileptic encephalopathy, early infantile, 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "epileptic encephalopathy, early infantile, type 16", "description": "" }, { "id": "MIM:615338", "resource": "MIM", "url": "https://www.omim.org/entry/615338", "name": "Developmental and epileptic encephalopathy 16", "description": "Developmental and epileptic encephalopathy 16" } ], "evidence": [ { "id": "0080449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080449" } ] }, { "disease_id": "DOID:0110532", "recommended_name": { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "autosomal recessive nonsyndromic deafness 86", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "DFNB86", "description": "" }, { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "autosomal recessive deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic hearing loss 86", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "DFNB86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "TBC1D24 autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness type 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "deafness, autosomal recessive 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "deafness, autosomal recessive type 86", "description": "" }, { "id": "MIM:614617", "resource": "MIM", "url": "https://www.omim.org/entry/614617", "name": "Deafness, autosomal recessive, 86", "description": "Deafness, autosomal recessive, 86" } ], "evidence": [ { "id": "0110532", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110532" } ] }, { "disease_id": "DOID:0110586", "recommended_name": { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "autosomal dominant nonsyndromic deafness 65", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "DFNA65", "description": "" }, { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "autosomal dominant deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic hearing loss 65", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "DFNA65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "TBC1D24 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness type 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "deafness, autosomal dominant 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "deafness, autosomal dominant type 65", "description": "" }, { "id": "MIM:616044", "resource": "MIM", "url": "https://www.omim.org/entry/616044", "name": "Deafness, autosomal dominant, 65", "description": "Deafness, autosomal dominant, 65" } ], "evidence": [ { "id": "0110586", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110586" } ] }, { "disease_id": "DOID:0111627", "recommended_name": { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOORS syndrome", "description": "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOOR syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOORS", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychoosteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "autosomal recessive deafness-onychodystrophy syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS syndrome", "description": "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "autosomal recessive deafness-onychodystrophy syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychoosteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "door syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "Digitorenocerebral syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "Eronen syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "brachydactyly due to absence of distal phalanges", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness onychodystrophy osteodystrophy and intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness onychodystrophy osteodystrophy and mental retardation syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "drc syndrome", "description": "" }, { "id": "MIM:220500", "resource": "MIM", "url": "https://www.omim.org/entry/220500", "name": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome", "description": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" } ], "evidence": [ { "id": "0111627", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111627" } ] }, { "disease_id": "DOID:0111645", "recommended_name": { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "EPRPDC", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "RE-PED-WC", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic-type focal motor epilepsy and exercise-induced dystonia", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "EPRPDC", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "Re-ped-Wc", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp", "description": "" }, { "id": "MIM:608105", "resource": "MIM", "url": "https://www.omim.org/entry/608105", "name": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp", "description": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp" } ], "evidence": [ { "id": "0111645", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111645" } ] }, { "disease_id": "DOID:11832", "recommended_name": { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "visual epilepsy", "description": "" }, "synonyms": [ { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "epilepsy, visual", "description": "" } ], "evidence": [ { "id": "11832", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11832" } ] }, { "disease_id": "DOID:1289", "recommended_name": { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." }, "synonyms": [ { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "degenerative disease", "description": "" } ], "evidence": [ { "id": "1289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tbc1d24", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0", "locus": { "chromosome": "10", "start_pos": 13209895, "end_pos": 13236050, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000052204", "url": "https://www.ensembl.org/id/ENSRNOG00000052204" } ] } } ], "crossref": [ { "id": "ENSRNOG00000052204", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000052204", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "287110", "url": "https://www.ncbi.nlm.nih.gov/gene/287110", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000195", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000195", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006571", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006571", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:287110", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:287110", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "YRKHKAG", "url": "https://omabrowser.org/oma/group/YRKHKAG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5396136at2759", "url": "http://www.orthodb.org/?query=5396136at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23354", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23354", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23354:SF122", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23354:SF122", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00566", "url": "http://pfam.xfam.org/family/PF00566", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07534", "url": "http://pfam.xfam.org/family/PF07534", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8854214", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8854214", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "XP_006245988", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006245988", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1306143", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1306143", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K5B0-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A3Z3", "url": "https://www.uniprot.org/uniprot/D4A3Z3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A3Z3-1", "url": "https://www.uniprot.org/uniprot/D4A3Z3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSPGYNCFVDKDKMDASIQDLGPKELNYTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSSLPLPEFVDNTQVPTYCLNPRGEGAVRKILLCIANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILSCNDPGKKLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYSDWQRWLFGELPLNYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDNVKQDIRMFVKDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALRQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVKEMRDIWSWIPERFALCQPLLLFSSLQHGYSLSRFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLSFFGTGECFVFRLQPEVQRYEWVVIKHPELTKAASFKSSEAAANPCLISHSVSSDPADRLSPFLAARHFNLPSKTESMFMAGGNDCLIIGGGGGQALYIDGDLNRGRTGHCDTFNNQPLCSESFLIAAVEAWGFQDPDTQ", "length": 562, "header": "tr|A0A0G2K5B0-1|A0A0G2K5B0_RAT Isoform 1 of TBC1 domain family member 24 OS=Rattus norvegicus OX=10116 GN=Tbc1d24 PE=1 SV=1 CANONICAL=A0A0G2K5B0-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K5B0-1", "url": "", "sequence": { "sequence": "MDSPGYNCFVDKDKMDASIQDLGPKELNYTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSSLPLPEFVDNTQVPTYCLNPRGEGAVRKILLCIANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILSCNDPGKKLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYSDWQRWLFGELPLNYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDNVKQDIRMFVKDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALRQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVKEMRDIWSWIPERFALCQPLLLFSSLQHGYSLSRFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLSFFGTGECFVFRLQPEVQRYEWVVIKHPELTKAASFKSSEAAANPCLISHSVSSDPADRLSPFLAARHFNLPSKTESMFMAGGNDCLIIGGGGGQALYIDGDLNRGRTGHCDTFNNQPLCSESFLIAAVEAWGFQDPDTQ", "length": 562, "header": "tr|A0A0G2K5B0-1|A0A0G2K5B0_RAT Isoform 1 of TBC1 domain family member 24 OS=Rattus norvegicus OX=10116 GN=Tbc1d24 PE=1 SV=1 CANONICAL=A0A0G2K5B0-1" }, "locus": { "chromosome": "10", "start_pos": 13217443, "end_pos": 13212827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000084066.2", "url": "https://www.ensembl.org/id/ENSRNOT00000084066.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000073359.1", "url": "https://www.ensembl.org/id/ENSRNOP00000073359.1" } ] } }, { "isoform_ac": "D4A3Z3-1", "url": "", "sequence": { "sequence": "MDSPGYNCFVDKDKMDASIQDLGPKELNYTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSSLPLPEFVDNTQVPTYCLNPRGEGAVRKILLCIANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILSCNDPGKKLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYSDWQRWLFGELPLNYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDNVKQDIRMFVKDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALRQKGITVKQKRQFVHLAVHAENFRSEIVSVKEMRDIWSWIPERFALCQPLLLFSSLQHGYSLSRFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLSFFGTGECFVFRLQPEVQRYEWVVIKHPELTKAASFKSSEAAANPCLISHSVSSDPADRLSPFLAARHFNLPSKTESMFMAGGNDCLIIGGGGGQALYIDGDLNRGRTGHCDTFNNQPLCSESFLIAAVEAWGFQDPDTQ", "length": 556, "header": "tr|D4A3Z3-1|A0A0G2K5B0_RAT Computationally mapped isoform of TBC1 domain family member 24 OS=Rattus norvegicus OX=10116 GN=Tbc1d24 PE=1 SV=1 CANONICAL=A0A0G2K5B0-1" }, "locus": { "chromosome": "10", "start_pos": 13217443, "end_pos": 13212827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000081995.2", "url": "https://www.ensembl.org/id/ENSRNOT00000081995.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071746.1", "url": "https://www.ensembl.org/id/ENSRNOP00000071746.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Falace A, Buhler E, Fadda M, Watrin F, Lippiello P, Pallesi-Pocachard E, Baldelli P, Benfenati F, Zara F, Represa A, Fassio A, Cardoso C", "evidence": [ { "database": "RefSeq", "id": "NP_001099239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099239" } ], "reference": [ { "type": "PubMed", "id": "24469796", "url": "https://glygen.org/publication/PubMed/24469796" } ] } ], "pathway": [ { "id": "rno:287110", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:287110", "resource": "KEGG Pathway" }, { "id": "R-RNO-8854214", "name": "TBC/RABGAPs", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8854214", "resource": "Reactome", "description": "TBC/RABGAPs" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UUG6-1", "protein_name": "TBC1 domain family member 24", "gene_name": "Tbc1d24", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDPPGYNCFVDKDKMDASIQDLGPKELNCTELQELKQLARQGYWAQSHTLRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSSLPLPEFVDNTQVPTYCLNTRGEGAVRKILLCIANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILSCNDPTKKLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYSDWQRWLFGELPLNYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDNVKQDIRMFVKDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALRQKGITVKQKSVSLSKRQFVHLAVHAENFHSEIVSVKEMRDIWSWIPERFALCQPLLLFSSLQHGYSLSRFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERTKFGGKLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKATSLKSSEAAGSSSLISHCSSDPADRLSPFLAARHFNLPSKTESMFMAGGNDCLIIGGGGGQALYVDGDLNRGRTGHCDTFNNQPLCSENFLIAAVEAWGFQDPDTE", "length": 561 }, "evidence": [ { "id": "45239033", "url": "http://www.informatics.jax.org/homology/45239033", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9ULP9-1", "protein_name": "TBC1 domain family member 24", "gene_name": "TBC1D24", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYADWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREMRDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ", "length": 559 }, "evidence": [ { "id": "45239033", "url": "http://www.informatics.jax.org/homology/45239033", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K5B0", "url": "https://www.uniprot.org/uniprot/A0A0G2K5B0" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-cysteine 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