Bardet-Biedl syndrome 4 protein (BBS4)

Function

• may be required for the dynein-mediated transport of pericentriolar proteins to the centrosome
• required for microtubule anchoring at the centrosome but not for microtubule nucleation
• component of the BBsome complex
• interacts with DCTN1

Structure

• belongs to the BBS4 family
• contains 10 TPR repeats

Compartment

• cytoplasm, cytoskeleton, centrosome
• cytoplasm, cytoskeleton
• cell projection, cilium membrane
• cytoplasm
• localizes to the pericentriolar region throughout the cell cycle
• centrosomal localization requires dynein
• localizes to nonmembranous centriolar satellites in the cytoplasm

Alternative splicing

named isoforms=2

Expression

• ubiquitously expressed
• highest level of expression is found in the kidney

Pathology

• defects in BBS4 are the cause of Bardet-Biedl syndrome type 4

More general terms

• Bardet-Biedel syndrome protein

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=585
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:585
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/600374
• UniProt: http://www.uniprot.org/uniprot/Q96RK4.html