Bardet-Biedl syndrome 1 (human) (Q29530063)

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q3V3N7

Bardet-Biedl syndrome 1 protein

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q3V3N7

Bardet-Biedl syndrome 1, N-terminal domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

12 September 2018

1 reference

12 September 2018

6 references

9 May 2019

DJ-1 enhances cell survival through the binding of Cezanne, a negative regulator of NF-kappaB

Parkinsons Disease Gene Ontology Initiative

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

phosphoprotein binding

1 reference

9 May 2019

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

cell component

cytoplasm

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

microtubule organizing center

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

cytoskeleton

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

plasma membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

axoneme

1 reference

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

motile cilium

1 reference

9 May 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

BBSome

5 references

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7

24 April 2018

24 April 2018

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7

24 April 2018

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7

24 April 2018

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7

cell projection

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

ciliary membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

centriolar satellite

1 reference

9 May 2019

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

centrosome

3 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

BBSome

6 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

9 May 2019

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

microtubule cytoskeleton organization

biological process

1 reference

9 May 2019

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

neuron migration

1 reference

9 May 2019

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

visual perception

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

protein localization

1 reference

9 May 2019

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

photoreceptor cell morphogenesis

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

fertilization

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

protein transport

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

dendrite development

1 reference

9 May 2019

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

ventricular system development

1 reference

9 May 2019

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

striatum development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

hippocampus development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

cerebral cortex development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

cell projection organization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

adult behavior

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

intraciliary retrograde transport

1 reference

9 May 2019

The BBSome controls IFT assembly and turnaround in cilia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

olfactory behavior

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

hormone metabolic process

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

Golgi to plasma membrane protein transport

1 reference

9 May 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

cellular lipid metabolic process

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

fat cell differentiation

IEP

1 reference

9 May 2019

Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

photoreceptor cell maintenance

IEP

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

brain morphogenesis

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

response to stimulus

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

1 reference

9 May 2019

cartilage development

1 reference

9 May 2019

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

cilium assembly

4 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

regulation of cilium beat frequency involved in ciliary motility

1 reference

9 May 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

neural precursor cell proliferation

1 reference

9 May 2019

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

non-motile cilium assembly

6 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

14 February 2019

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

14 February 2019

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

14 February 2019

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

14 February 2019

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

14 February 2019

non-motile cilium assembly

7 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

9 May 2019

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7

Bardet-Biedl syndrome 1, N-terminal

has part(s)

1 reference

InterPro Release 71.0