Homo sapiens Gene: TBC1D24
Summary
InnateDB Gene IDBG-10532.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBC1D24
Gene Name TBC1 domain family, member 24
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000162065
Encoded Proteins
TBC1 domain family, member 24
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:2475146-2505734
Strand Forward strand
Band p13.3
Transcripts
ENST00000293970 ENSP00000293970
ENST00000569874 ENSP00000455005
ENST00000566853
ENST00000564879 ENSP00000457266
ENST00000562105 ENSP00000457896
ENST00000567020 ENSP00000454408
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005097 Rab GTPase activator activity
GO:0005515 protein binding
Biological Process
GO:0031175 neuron projection development
GO:0032313 regulation of Rab GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL H3BV07
UniProt Splice Variant
Entrez Gene 57465
UniGene Hs.353087 Hs.592846 Hs.692379 Hs.730151 Hs.737281
RefSeq NM_001199107 NM_020705 XM_005255449 XM_006720907
HUGO HGNC:29203
OMIM 613577
CCDS CCDS55980 CCDS42107
HPRD
IMGT
EMBL AC093525 AC106820
GenPept
RNA Seq Atlas 57465