InnateDB Protein
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IDBP-10534.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TBC1D24
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Protein Name
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TBC1 domain family, member 24
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000293970
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InnateDB Gene
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IDBG-10532 (TBC1D24)
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Protein Structure
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Function |
May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. {ECO:0000269PubMed:20727515, ECO:0000269PubMed:20797691}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:20727515}. Note=Partially expressed at the plasma membrane.
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Disease Associations |
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:0000269PubMed:20727515, ECO:0000269PubMed:20797691}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 16 (EIEE16) [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:0000269PubMed:23526554}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, 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:0000269PubMed:24291220}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:24387994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highest expression in brain. {ECO:0000269PubMed:20727515}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000195
Rab-GTPase-TBC domain
IPR006571
TLDc domain
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PFAM |
PF00566
PF07534
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PRINTS |
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PIRSF |
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SMART |
SM00164
SM00584
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TIGRFAMs |
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Modification |
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SwissProt |
Q9ULP9
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PhosphoSite |
PhosphoSite-Q9ULP9
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TrEMBL |
H3BV07
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UniProt Splice Variant |
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Entrez Gene |
57465
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UniGene |
Hs.737281
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RefSeq |
NP_001186036
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HUGO |
HGNC:29203
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OMIM |
613577
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CCDS |
CCDS55980
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HPRD |
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IMGT |
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EMBL |
AB032997
AB449911
AC093525
AC106820
BC112389
BC127014
BC127015
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GenPept |
AAI12390
AAI27015
AAI27016
BAA86485
BAH16654
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