Sequence Detail

ID/Version

Q8C1Z7 Q562E1 Q8CA57 Q3UYF0 Q5EBJ7 (UniProt | EBI)

Last sequence update: 2003-03-01
Last annotation update: 2025-06-18

Sequence description from provider

RecName: Full=BBSome complex member BBS4 {ECO:0000305};AltName: Full=Bardet-Biedl syndrome 4 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 520 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Bbs4	Bardet-Biedl syndrome 4	151	99	3	14

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:135832 Rahmouni K, et al., Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest. 2008 Apr;118(4):1458-67
J:177990 Seo S, et al., A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened. PLoS Genet. 2011 Nov;7(11):e1002358
J:203124 Zhang Y, et al., BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014 Jan 1;23(1):40-51
J:206657 Ye X, et al., C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2164-9