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Bardet-Biedl syndrome 1 protein; BBS2-like protein 2 (BBS1, BBS2L2)
Function:
- component of the BBsome complex
- interacts with the C-terminus of RAB3IP
Compartment:
- cell projection, cilium membrane, cytoplasm
- localizes to nonmembranous centriolar satellites in the cytoplasm
Alternative splicing: named isoforms=2
Expression:
- highly expressed in the kidney
- also expressed in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle & pancreas
Pathology:
- ciliary dysfunction
- defects in BBS1 are a cause of Bardet-Biedl syndrome type 1
Related
Bardet-Biedl syndrome
General
Bardet-Biedl syndrome protein (BBS)
phosphoprotein
Properties
SIZE: entity length = 593 aa
MW = 65 kD
COMPARTMENT: cytoplasm
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Thr phosphorylation site {T369}
Thr phosphorylation site {T392}
Database Correlations
OMIM correlations
MORBIDMAP 209901
UniProt Q8NFJ9
Entrez Gene 582
Kegg hsa:582
References
- UniProt :accession Q8NFJ9
- Mutations of the BBS1 gene
Retina International's scientific newsletter
http://www.retina-international.org/files/sci-news/bbs1mut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BBS1
Component-of
BBsome complex