Version 5.4
Mus musculus Gene: Bbs7
Summary
InnateDB Gene IDBG-138825.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bbs7
Gene Name Bardet-Biedl syndrome 7 (human)
Synonyms 8430406N16Rik
Species Mus musculus
Ensembl Gene ENSMUSG00000037325
Encoded Proteins
IDBP-138827
Bardet-Biedl syndrome 7 (human)
IDBP-265117
Bardet-Biedl syndrome 7 (human)
IDBP-265119
Bardet-Biedl syndrome 7 (human)
IDBP-537274
Bardet-Biedl syndrome 7 (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 ENSG00000138686:
This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:36573142-36613477
Strand Reverse strand
Band B
Transcripts
ENSMUST00000040148 ENSMUSP00000047273
ENSMUST00000108156 ENSMUSP00000103791
ENSMUST00000108155 ENSMUSP00000103790
ENSMUST00000129671
ENSMUST00000142333 ENSMUSP00000118961
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 30 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
Biological Process
GO:0001654 eye development
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0007420 brain development
GO:0007507 heart development
GO:0008104 protein localization
GO:0015031 protein transport
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035058 nonmotile primary cilium assembly
GO:0045444 fat cell differentiation
GO:0060021 palate development
GO:0060173 limb development
Cellular Component
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005930 axoneme
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000138686
View Gene Order
ENSBTAG00000004945
Not yet available
Cross-References
SwissProt
TrEMBL D3YXR1
UniProt Splice Variant
Entrez Gene 71492
UniGene Mm.286187 Mm.398548
RefSeq NM_027810 XM_006535535 XM_006535536
OMIM
CCDS CCDS17314
HPRD
IMGT
MGI ID MGI:1918742
MGI Symbol Bbs7
EMBL AC117584
GenPept
RNA Seq Atlas 71492

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