{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9ULP9","secondaryAccessions":["A0JNW3","B9A6M6","Q2KJ08"],"uniProtkbId":"TBC24_HUMAN","entryAudit":{"firstPublicDate":"2007-05-29","lastAnnotationUpdateDate":"2026-11-04","lastSequenceUpdateDate":"2007-05-29","entryVersion":161,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"TBC1 domain family member 24"}}},"genes":[{"geneName":{"value":"TBC1D24"},"synonyms":[{"value":"KIAA1171"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A0G2K5B0"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20797691"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335140"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31257402"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32004315"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32475639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38593795"}],"value":"May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projection development, probably through negative modulation of ARF6 function (PubMed:20727515). Required for the maintenance of postsynaptic neuron dendritic spines in the adult by suppressing ARF6 activity (PubMed:32004315). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402). Promotes axonal outgrowth and membrane trafficking at the growth cone (By similarity). Positively regulates radial migration and morphological maturation of pyramidal neurons during cortical development by preventing ARF6 activation (By similarity). In one study, has been shown to inhibit the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). In another study, has been shown to positively regulate V-ATPase assembly in neurons which promotes acidification of lysosomes and synaptic vesicles (By similarity). This supports neuronal autophagy and also regulates synaptic vesicle reacidification and the maintenance of the synaptic vesicle reserve pool (By similarity). Protects neuronal cells against oxidative stress (PubMed:30335140). Involved in the maintainenance of endosomal-mediated vesicle recycling and sustained exocytosis of hair cell ribbon synapses (By similarity). Facilitates formation of tubular recycling endosomes which promotes recycling of clathrin-independent endocytosis cargo proteins back to the plasma membrane (PubMed:32475639)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32004315"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32475639"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39758816"}],"value":"Interacts with ARF6; the interaction leads to suppression of ARF6 activity which promotes dendritic spine maintenance (PubMed:20727515, PubMed:32004315). Interacts with RAB22A; the interaction is required for TBC1D24-mediated formation of tubular recycling endosomes (PubMed:32475639). Interacts (via TLDc domain) with vacuolar-type ATPase (V-ATPase) subunit ATP6V1B1 (By similarity). Interacts with V-ATPase subunits ATP6V1A AND ATP6V1B2 (PubMed:39758816)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9ULP9-2","intActId":"EBI-10968870"},"interactantTwo":{"uniProtKBAccession":"P62330","geneName":"ARF6","intActId":"EBI-638181"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9VIH7"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39758816"}],"value":"Mainly cytoplasmic with partial expression at the plasma membrane (PubMed:20727515). Associates with certain types of membrane phosphoinositides, preferentially those phosphorylated at the D5 position of the inositol ring such as phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity). In neurons, detected in the cell soma and along neurites (PubMed:39758816). Associated with clathrin-coated vesicles and synapses of hippocampal neurons (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9VIH7"}],"value":"Cytoplasmic vesicle membrane","id":"SL-0089"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Peripheral membrane protein","id":"SL-9903"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31257402"}],"value":"Presynapse","id":"SL-0516"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"}],"value":"Postsynapse","id":"SL-0515"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39758816"}],"value":"Cell projection, neuron projection","id":"SL-0518"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"}],"value":"Cell projection, dendrite","id":"SL-0283"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39758816"}],"value":"Perikaryon","id":"SL-0197"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A0G2K5B0"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q3UUG6"}],"value":"Cytoplasmic vesicle, clathrin-coated vesicle","id":"SL-0070"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9ULP9-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9ULP9-2"],"sequenceIds":["VSP_025701"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"}],"value":"Highest expression in brain"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9VIH7"}],"value":"The Rab-GAP TBC domain is essential for phosphatidylinositol binding"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Familial infantile myoclonic epilepsy","diseaseAccession":"DI-02926","acronym":"FIME","description":"A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures.","diseaseCrossReference":{"database":"MIM","id":"605021"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20727515"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20797691"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24469796"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25769375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32004315"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Developmental and epileptic encephalopathy 16","diseaseAccession":"DI-03823","acronym":"DEE16","description":"A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood.","diseaseCrossReference":{"database":"MIM","id":"615338"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23526554"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27541164"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, autosomal dominant, 65","diseaseAccession":"DI-04244","acronym":"DFNA65","description":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal.","diseaseCrossReference":{"database":"MIM","id":"616044"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24729539"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24729547"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38413761"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome","diseaseAccession":"DI-03992","acronym":"DOORS","description":"A syndrome characterized by sensorineural deafness, intellectual disability, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy.","diseaseCrossReference":{"database":"MIM","id":"220500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24291220"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335140"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32004315"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, autosomal recessive, 86","diseaseAccession":"DI-04026","acronym":"DFNB86","description":"A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies.","diseaseCrossReference":{"database":"MIM","id":"614617"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24387994"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp","diseaseAccession":"DI-05646","acronym":"EPRPDC","description":"An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand.","diseaseCrossReference":{"database":"MIM","id":"608105"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335140"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31257402"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAA86485.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":559,"modifier":"EXACT"}},"description":"TBC1 domain family member 24","featureId":"PRO_0000288504"},{"type":"Domain","location":{"start":{"value":47,"modifier":"EXACT"},"end":{"value":262,"modifier":"EXACT"}},"description":"Rab-GAP 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