Protein Domain : IPR028784

Type:  Family Name:  Bardet-Biedl syndrome 1 protein
Description:  Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. 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 []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS1. Short Name:  BBS1
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR20870:SF0

0 Found In

2 GO Annotations

GO Term Gene Name
GO:0035058 IPR028784
GO:0034464 IPR028784

2 Ontology Annotations

GO Term Gene Name
GO:0035058 IPR028784
GO:0034464 IPR028784

0 Parent Features

9 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
36840 C1N7X7 PAC:27343658 Micromonas pusilla CCMP1545 621  
85433 C1FHI3 PAC:27397540 Micromonas sp RCC299 598  
Cre17.g741950.t1.1 A0A2K3CRT2 PAC:30781890 Chlamydomonas reinhardtii 576  
Dusal.0389s00008.1.p PAC:33193615 Dunaliella salina 185  
Dusal.0389s00008.2.p PAC:33193616 Dunaliella salina 135  
Dusal.0502s00001.2.p PAC:33199152 Dunaliella salina 532  
Dusal.0502s00001.1.p PAC:33199151 Dunaliella salina 573  
Cz05g25190.t1 PAC:38242369 Chromochloris zofingiensis 598  
Vocar.0003s0317.1.p PAC:32888913 Volvox carteri 601  

5 Publications

First Author Title Year Journal Volume Pages PubMed ID
            17574030
            18334641
            18032602
            12118255
            22072986