Version 5.4
Homo sapiens Gene: BBS1
Summary
InnateDB Gene IDBG-59135.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS1
Gene Name Bardet-Biedl syndrome 1
Synonyms BBS2L2
Species Homo sapiens
Ensembl Gene ENSG00000174483
Encoded Proteins
IDBP-59145
Bardet-Biedl syndrome 1
IDBP-242447
Bardet-Biedl syndrome 1
IDBP-379190
Bardet-Biedl syndrome 1
IDBP-604177
Bardet-Biedl syndrome 1
IDBP-604178
Bardet-Biedl syndrome 1
IDBP-604180
Bardet-Biedl syndrome 1
IDBP-604181
Bardet-Biedl syndrome 1
IDBP-604183
Bardet-Biedl syndrome 1
IDBP-604184
Bardet-Biedl syndrome 1
IDBP-604186
Bardet-Biedl syndrome 1
IDBP-604187
Bardet-Biedl syndrome 1
IDBP-604188
Bardet-Biedl syndrome 1
IDBP-604189
Bardet-Biedl syndrome 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:66510606-66533627
Strand Forward strand
Band q13.2
Transcripts
ENST00000318312 ENSP00000317469
ENST00000393994 ENSP00000377563
ENST00000455748 ENSP00000405764
ENST00000526760 ENSP00000432140
ENST00000533644 ENSP00000436073
ENST00000527251 ENSP00000434360
ENST00000526815 ENSP00000436860
ENST00000533557 ENSP00000434619
ENST00000525809 ENSP00000431187
ENST00000529955
ENST00000526035 ENSP00000434197
ENST00000534730
ENST00000532908 ENSP00000431866
ENST00000529766
ENST00000524907
ENST00000524705 ENSP00000436927
ENST00000524458 ENSP00000436195
ENST00000533430
ENST00000529953
ENST00000528543
ENST00000532283
ENST00000524884
ENST00000529895
ENST00000527959
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 34 [view]
Protein-Protein 34 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005113 patched binding
GO:0005119 smoothened binding
GO:0005515 protein binding
Biological Process
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0035058 nonmotile primary cilium assembly
GO:0042384 cilium assembly
GO:0043001 Golgi to plasma membrane protein transport
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0034464 BBSome
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000006464
View Gene Order
ENSBTAG00000020147
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.502915 Hs.733750
RefSeq NM_024649
HUGO
OMIM
CCDS CCDS8142
HPRD 06012
IMGT
EMBL
GenPept
RNA Seq Atlas

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