InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BBS1

Summary

InnateDB Protein

IDBP-59145.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BBS1

Protein Name

Bardet-Biedl syndrome 1

Synonyms

BBS2L2;

Species

Homo sapiens

Ensembl Protein

ENSP00000317469

InnateDB Gene

IDBG-59135 (BBS1)

Protein Structure

UniProt Annotation

Function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269PubMed:17574030, ECO:0000269PubMed:22072986}.

Subcellular Localization

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Disease Associations

Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome.Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:12118255, ECO:0000269PubMed:12524598, ECO:0000269PubMed:12567324, ECO:0000269PubMed:12677556, ECO:0000269PubMed:12920096, ECO:0000269PubMed:15770229, ECO:0000269PubMed:21052717, ECO:0000269PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	34 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005113	patched binding
GO:0005119	smoothened binding
GO:0005515	protein binding

Biological Process

GO:0001895	retina homeostasis
GO:0007601	visual perception
GO:0035058	nonmotile primary cilium assembly
GO:0042384	cilium assembly
GO:0043001	Golgi to plasma membrane protein transport
GO:0045494	photoreceptor cell maintenance
GO:0050896	response to stimulus