Version 5.4
Mus musculus Gene: Bbs1
Summary
InnateDB Gene IDBG-130227.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bbs1
Gene Name Bardet-Biedl syndrome 1 (human)
Synonyms AI451249; D19Ertd609e
Species Mus musculus
Ensembl Gene ENSMUSG00000006464
Encoded Proteins
IDBP-130229
Bardet-Biedl syndrome 1 (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000174483:
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 19:4886898-4906627
Strand Reverse strand
Band A
Transcripts
ENSMUST00000053506 ENSMUSP00000055321
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 33 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0051219 phosphoprotein binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0001764 neuron migration
GO:0001895 retina homeostasis
GO:0007608 sensory perception of smell
GO:0008104 protein localization
GO:0008594 photoreceptor cell morphogenesis
GO:0009566 fertilization
GO:0016358 dendrite development
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0035058 nonmotile primary cilium assembly
GO:0035264 multicellular organism growth
GO:0035721 intraciliary retrograde transport
GO:0042048 olfactory behavior
GO:0042384 cilium assembly
GO:0042445 hormone metabolic process
GO:0043001 Golgi to plasma membrane protein transport
GO:0044255 cellular lipid metabolic process
GO:0045444 fat cell differentiation
GO:0048854 brain morphogenesis
GO:0051216 cartilage development
GO:0060271 cilium morphogenesis
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:0061512 protein localization to cilium
Cellular Component
GO:0005813 centrosome
GO:0031514 motile cilium
GO:0034464 BBSome
GO:0036064 ciliary basal body
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000174483
View Gene Order
ENSBTAG00000020147
Not yet available
Cross-References
SwissProt
TrEMBL Q3V3N7
UniProt Splice Variant
Entrez Gene 52028
UniGene Mm.23636
RefSeq NM_001033128 XM_006531788
OMIM
CCDS CCDS29442
HPRD
IMGT
MGI ID MGI:1277215
MGI Symbol Bbs1
EMBL AC141437 AK037753
GenPept BAE20519
RNA Seq Atlas 52028

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