Version 5.4
Homo sapiens Protein: TBC1D20
Summary
InnateDB Protein IDBP-594306.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBC1D20
Protein Name TBC1 domain family, member 20
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000432280
InnateDB Gene IDBG-37622 (TBC1D20)
Protein Structure
UniProt Annotation
Function GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269PubMed:24239381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [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:0016032 viral process
GO:0032313 regulation of Rab GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000195 Rab-GTPase-TBC domain
PFAM PF00566
PRINTS
PIRSF
SMART SM00164
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96BZ9
PhosphoSite PhosphoSite-Q96BZ9
TrEMBL
UniProt Splice Variant
Entrez Gene 128637
UniGene Hs.738489
RefSeq XP_005260718
HUGO HGNC:16133
OMIM 611663
CCDS CCDS13002
HPRD 15472
IMGT
EMBL AB449906 AK055573 AK127062 AK291648 AL049761 AL121747 BC014983 CH471133
GenPept BAC86808 BAF84337 BAH16649 CAI23015 CAI23048 EAX10670

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca