Domain

Bardet-Biedl syndrome 1, N-terminal (IPR032728)

Short name: BBS1_N

Overlapping homologous superfamilies

None.

Domain relationships

None.

Description

This entry represents the N-terminal domain of the Bardet-Biedl syndrome 1 protein (BBS1).

Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [PMID: 12118255]. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia [PMID: 17574030]. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [PMID: 22072986].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam