Sequence Detail

ID/Version

Q3V3N7 (UniProt | EBI)

Last sequence update: 2005-10-11
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=BBSome complex member BBS1 {ECO:0000305};AltName: Full=Bardet-Biedl syndrome 1 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 593 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	Bbs1	Bardet-Biedl syndrome 1	93	98	3	43

Sequence references in MGI

J:92950 Kulaga HM, et al., Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep;36(9):994-8
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:128532 Davis RE, et al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89