Version 5.4
Homo sapiens Gene: BBS10
Summary
InnateDB Gene IDBG-48983.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS10
Gene Name Bardet-Biedl syndrome 10
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000179941
Encoded Proteins
IDBP-243975
Bardet-Biedl syndrome 10
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:76344474-76348442
Strand Reverse strand
Band q21.2
Transcripts
ENST00000393262 ENSP00000376946
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 33 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0035058 nonmotile primary cilium assembly
GO:0043254 regulation of protein complex assembly
GO:0044267 cellular protein metabolic process
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
GO:0051131 chaperone-mediated protein complex assembly
Cellular Component
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000035759
View Gene Order
ENSBTAG00000004425
Not yet available
Cross-References
SwissProt Q8TAM1
TrEMBL
UniProt Splice Variant
Entrez Gene 79738
UniGene Hs.625098 Hs.96322
RefSeq NM_024685 XM_006719603
HUGO HGNC:26291
OMIM 610148
CCDS CCDS9014
HPRD 08036
IMGT
EMBL AK027213 BC013795 BC026355
GenPept AAH13795 AAH26355 BAB15695
RNA Seq Atlas 79738

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