Version 5.4
Homo sapiens Gene: BBS4
Summary
InnateDB Gene IDBG-20881.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS4
Gene Name Bardet-Biedl syndrome 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000140463
Encoded Proteins
IDBP-20883
Bardet-Biedl syndrome 4
IDBP-240024
Bardet-Biedl syndrome 4
IDBP-746161
IDBP-745591
IDBP-745706
IDBP-745333
IDBP-747196
IDBP-747128
IDBP-746523
IDBP-747321
IDBP-747809
IDBP-746137
IDBP-745820
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 severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein\'s 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:72686179-72738476
Strand Forward strand
Band q24.1
Transcripts
ENST00000268057 ENSP00000268057
ENST00000395205 ENSP00000378631
ENST00000566400 ENSP00000456759
ENST00000569440 ENSP00000457958
ENST00000569001
ENST00000563600 ENSP00000457753
ENST00000567279 ENSP00000456664
ENST00000565160 ENSP00000455412
ENST00000562219
ENST00000564239
ENST00000561914 ENSP00000457795
ENST00000566829 ENSP00000455958
ENST00000568535
ENST00000562084 ENSP00000454718
ENST00000569338 ENSP00000456758
ENST00000569151
ENST00000566938 ENSP00000456463
ENST00000566197 ENSP00000457479
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 32 [view]
Protein-Protein 32 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0034452 dynactin binding
GO:0043014 alpha-tubulin binding
GO:0048487 beta-tubulin binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0000281 mitotic cytokinesis
GO:0001843 neural tube closure
GO:0001895 retina homeostasis
GO:0001947 heart looping
GO:0003085 negative regulation of systemic arterial blood pressure
GO:0007286 spermatid development
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0008104 protein localization
GO:0008152 metabolic process
GO:0010629 negative regulation of gene expression
GO:0015031 protein transport
GO:0016358 dendrite development
GO:0019216 regulation of lipid metabolic process
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0032402 melanosome transport
GO:0032465 regulation of cytokinesis
GO:0033210 leptin-mediated signaling pathway
GO:0033365 protein localization to organelle
GO:0034454 microtubule anchoring at centrosome
GO:0035058 nonmotile primary cilium assembly
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018 positive regulation of multicellular organism growth
GO:0042384 cilium assembly
GO:0044321 response to leptin
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0045724 positive regulation of cilium assembly
GO:0046548 retinal rod cell development
GO:0046907 intracellular transport
GO:0048854 brain morphogenesis
GO:0050893 sensory processing
GO:0051297 centrosome organization
GO:0051457 maintenance of protein location in nucleus
GO:0051877 pigment granule aggregation in cell center
GO:0060027 convergent extension involved in gastrulation
GO:0060271 cilium morphogenesis
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:0071539 protein localization to centrosome
Cellular Component
GO:0000242 pericentriolar material
GO:0005813 centrosome
GO:0005814 centriole
GO:0005929 cilium
GO:0031513 nonmotile primary cilium
GO:0031514 motile cilium
GO:0034451 centriolar satellite
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025235
View Gene Order
ENSBTAG00000007614
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.208681
RefSeq NM_001252678 NM_033028 XM_006720623
HUGO
OMIM
CCDS CCDS10246 CCDS58377
HPRD 08982
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