TBC1D24
entrez
57465
canonical
uniprot
Q9ULP9
canonical
ensembl
ENSG00000162065
resolver
ensp
ENSP00000454408
resolver
ensp
ENSP00000455005
resolver
ensp
ENSP00000457896
resolver
ensp
ENSP00000494678
resolver
ensp
ENSP00000529939
resolver
genesymbol
TBC1D24
resolver
genesymbol_syn
KIAA1171
resolver
hgnc
HGNC:29203
resolver
uniprot
A0JNW3
resolver
uniprot
B9A6M6
resolver
uniprot
Q2KJ08
resolver
uniprot_entry
TBC24_HUMAN
resolver
uniprot_sec
A0JNW3
resolver
uniprot_sec
B9A6M6
resolver
uniprot_sec
Q2KJ08
resolver
amino_acid_sequence
MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYADWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREMRDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ
uniprot
proteins
disease_involvement
DISEASE: Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. {ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691, ECO:0000269|PubMed:24469796, ECO:0000269|PubMed:25769375, ECO:0000269|PubMed:32004315}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 16 (DEE16) [MIM:615338]: 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. {ECO:0000269|PubMed:23526554, ECO:0000269|PubMed:27541164}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]: 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. {ECO:0000269|PubMed:24729539, ECO:0000269|PubMed:24729547, ECO:0000269|PubMed:38413761}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) [MIM:220500]: 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. {ECO:0000269|PubMed:24291220, ECO:0000269|PubMed:30335140, ECO:0000269|PubMed:32004315}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]: A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. {ECO:0000269|PubMed:24387994}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) [MIM:608105]: 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. {ECO:0000269|PubMed:30335140, ECO:0000269|PubMed:31257402}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:A0A0G2K5B0, ECO:0000250|UniProtKB:Q3UUG6, ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691, ECO:0000269|PubMed:30335140, ECO:0000269|PubMed:31257402, ECO:0000269|PubMed:32004315, ECO:0000269|PubMed:32475639, ECO:0000269|PubMed:38593795}.
uniprot
proteins
mass_dalton
62919
uniprot
proteins
mutagenesis
MUTAGEN 549; /note="E->A: Abolishes protective function against oxidative stress-induced cell death."; /evidence="ECO:0000269|PubMed:30335140
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
20727515
uniprot
proteins
pubmed
20797691
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23526554
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24291220
uniprot
proteins
pubmed
24387994
uniprot
proteins
pubmed
24469796
uniprot
proteins
pubmed
24729539
uniprot
proteins
pubmed
24729547
uniprot
proteins
pubmed
25401298
uniprot
proteins
pubmed
25769375
uniprot
proteins
pubmed
26207815
uniprot
proteins
pubmed
27541164
uniprot
proteins
pubmed
30335140
uniprot
proteins
pubmed
31257402
uniprot
proteins
pubmed
32004315
uniprot
proteins
pubmed
32475639
uniprot
proteins
pubmed
38413761
uniprot
proteins
pubmed
38593795
uniprot
proteins
pubmed
39758816
uniprot
proteins
sequence_length
559
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20727515}; Peripheral membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:20727515}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q9VIH7}; Peripheral membrane protein {ECO:0000305}. Presynapse {ECO:0000269|PubMed:31257402}. Postsynapse {ECO:0000250|UniProtKB:Q3UUG6}. Cell projection, neuron projection {ECO:0000269|PubMed:39758816}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q3UUG6}. Perikaryon {ECO:0000269|PubMed:39758816}. Cell projection, growth cone {ECO:0000250|UniProtKB:A0A0G2K5B0}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q3UUG6}. Note=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). {ECO:0000250|UniProtKB:Q3UUG6, ECO:0000250|UniProtKB:Q9VIH7, ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:39758816}.
uniprot
proteins