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

More general terms

• Bardet-Biedl syndrome protein (BBS)
• phosphoprotein

Additional terms

• Bardet-Biedl syndrome

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=582
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:582
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/209901
• UniProt: http://www.uniprot.org/uniprot/Q8NFJ9.html