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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
General
Bardet-Biedel syndrome protein
Properties
SIZE: entity length = 519 aa
MW = 58 kD
COMPARTMENT: cytoplasm
MOTIF: localization to centrosomes {1-66}
tetratricopeptide repeat {67-100}
PCM1 {101-337}
MOTIF: tetratricopeptide repeat {101-134}
tetratricopeptide repeat {135-168}
tetratricopeptide repeat {169-201}
tetratricopeptide repeat {203-235}
tetratricopeptide repeat {237-269}
tetratricopeptide repeat {270-303}
tetratricopeptide repeat {304-337}
centrosome {338-519}
MOTIF: tetratricopeptide repeat {339-371}
tetratricopeptide repeat {373-408}
Database Correlations
OMIM correlations
MORBIDMAP 600374
UniProt Q96RK4
Pfam PF00515
Entrez Gene 585
Kegg hsa:585
References
- UniProt :accession Q96RK4
- Mutations of the BBS4 gene;
Note: Retina International's scientific newsletter
http://www.retina-international.com/sci-news/bbs4mut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BBS4
Component-of
BBsome complex