Version 5.4
Homo sapiens Gene: BBS12
Summary
InnateDB Gene IDBG-36999.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS12
Gene Name Bardet-Biedl syndrome 12
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000181004
Encoded Proteins
IDBP-37001
Bardet-Biedl syndrome 12
IDBP-377371
Bardet-Biedl syndrome 12
IDBP-603946
Bardet-Biedl syndrome 12
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:122732702-122744943
Strand Forward strand
Band q27
Transcripts
ENST00000314218 ENSP00000319062
ENST00000433287 ENSP00000398912
ENST00000542236 ENSP00000438273
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0042073 intraciliary transport
GO:0042755 eating behavior
GO:0044267 cellular protein metabolic process
GO:0045494 photoreceptor cell maintenance
GO:0045599 negative regulation of fat cell differentiation
GO:0051131 chaperone-mediated protein complex assembly
Cellular Component
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000051444
View Gene Order
ENSBTAG00000007564
Not yet available
Cross-References
SwissProt Q6ZW61
TrEMBL C9J8H7
UniProt Splice Variant
Entrez Gene 166379
UniGene Hs.400698
RefSeq NM_001178007 NM_152618
HUGO HGNC:26648
OMIM 610683
CCDS CCDS3728
HPRD 08759
IMGT
EMBL AC053545 AK092949 AK123553 BC055426 BX538148 CH471056
GenPept AAH55426 BAC04006 BAC85644 CAD98035 EAX05223 EAX05224
RNA Seq Atlas 166379

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