BBIP1, Official Symbol BBIP1provided by HGNC Official Full Name BBSome interacting protein 1provided by HGNC Primary source HGNC:HGNC:28093 See related Ensembl:ENSG00000214413 MIM:613605; AllianceGenome:HGNC:28093 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBS18; BBIP10; bA348N5.3; NCRNA00081 Summary This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Annotation information Note: This gene, previously thought to be non-coding and described as NCRNA00081, is represented as protein coding based on evaluation of the transcript data and evidence that a functional protein exists presented in PMID: 19081074. [02 Sep 2010] Expression Broad expression in testis (RPKM 16.1), brain (RPKM 5.2) and 23 other tissues See more Orthologs mouse all