InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BBS4

Summary

InnateDB Protein

IDBP-240024.7

Last Modified

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

Gene Symbol

BBS4

Protein Name

Bardet-Biedl syndrome 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000378631

InnateDB Gene

IDBG-20881 (BBS4)

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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269PubMed:15107855, ECO:0000269PubMed:17574030, ECO:0000269PubMed:22072986}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum {ECO:0000250}. Note=Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein.

Disease Associations

Bardet-Biedl syndrome 4 (BBS4) [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:11381270, ECO:0000269PubMed:12016587, ECO:0000269PubMed:12677556, ECO:0000269PubMed:12872256, ECO:0000269PubMed:15666242, ECO:0000269PubMed:15770229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. The highest level of expression is found in the kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	32 [view]
Protein-Protein	32 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0034452	dynactin binding
GO:0043014	alpha-tubulin binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0000281	mitotic cytokinesis
GO:0001843	neural tube closure
GO:0001895	retina homeostasis
GO:0001947	heart looping
GO:0007286	spermatid development
GO:0007601	visual perception
GO:0007608	sensory perception of smell
GO:0008152	metabolic process
GO:0015031	protein transport
GO:0016358	dendrite development
GO:0019216	regulation of lipid metabolic process
GO:0021756	striatum development
GO:0021766	hippocampus development
GO:0021987	cerebral cortex development
GO:0030534	adult behavior
GO:0032402	melanosome transport
GO:0032465	regulation of cytokinesis
GO:0033365	protein localization to organelle
GO:0034454	microtubule anchoring at centrosome
GO:0035058	nonmotile primary cilium assembly
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway
GO:0042384	cilium assembly
GO:0045444	fat cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0045724	positive regulation of cilium assembly
GO:0046548	retinal rod cell development
GO:0046907	intracellular transport
GO:0048854	brain morphogenesis
GO:0050893	sensory processing
GO:0051297	centrosome organization
GO:0051457	maintenance of protein location in nucleus
GO:0051877	pigment granule aggregation in cell center
GO:0060027	convergent extension involved in gastrulation
GO:0060271	cilium morphogenesis
GO:0060296	regulation of cilium beat frequency involved in ciliary motility
GO:0071539	protein localization to centrosome

Cellular Component

GO:0000242	pericentriolar material
GO:0005813	centrosome
GO:0005814	centriole
GO:0005929	cilium
GO:0031513	nonmotile primary cilium
GO:0031514	motile cilium
GO:0034451	centriolar satellite
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0060170	ciliary membrane