Version 5.4
Homo sapiens Gene: BBS5
Summary
InnateDB Gene IDBG-74468.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS5
Gene Name Bardet-Biedl syndrome 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000163093
Encoded Proteins
IDBP-74470
Bardet-Biedl syndrome 5
IDBP-245203
Bardet-Biedl syndrome 5
IDBP-387340
Bardet-Biedl syndrome 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:169479178-169506655
Strand Forward strand
Band q31.1
Transcripts
ENST00000295240 ENSP00000295240
ENST00000392663 ENSP00000376431
ENST00000443151 ENSP00000406182
ENST00000469980
ENST00000475571
ENST00000472667
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
GO:0032266 phosphatidylinositol-3-phosphate binding
Biological Process
GO:0001947 heart looping
GO:0007601 visual perception
GO:0015031 protein transport
GO:0032402 melanosome transport
GO:0042384 cilium assembly
GO:0044458 motile cilium assembly
GO:0050896 response to stimulus
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
No orthologs found for this gene
Cross-References
SwissProt Q8N3I7
TrEMBL
UniProt Splice Variant
Entrez Gene 129880
UniGene Hs.233398
RefSeq NM_152384
HUGO HGNC:970
OMIM 603650
CCDS CCDS2233
HPRD 10353
IMGT
EMBL AC093899 AL834305 AY604003 AY604004 BC044593 CH471058
GenPept AAH44593 AAT08182 AAT08183 AAY24116 CAD38975 EAX11276 EAX11279
RNA Seq Atlas 129880

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