(Q21496604)

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

unfolded protein binding

1 reference

14 February 2019

1 reference

16 July 2018

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

2 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

IEA

kinociliary basal body

1 reference

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

microtubule organizing center

IDA

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 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:Q9JI70

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

4 references

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

4 references

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

5 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

5 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

regulation of cilium beat frequency involved in ciliary motility

biological process

1 reference

14 February 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:Q9JI70

chaperone-mediated protein complex assembly

1 reference

16 July 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=Q9JI70&geneProductId=UniProtKB:Q9JI70

negative regulation of actin filament polymerization

1 reference

14 February 2019

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

negative regulation of appetite by leptin-mediated signaling pathway

1 reference

14 February 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

negative regulation of blood pressure

1 reference

14 February 2019

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

leptin-mediated signaling pathway

1 reference

14 February 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

regulation of stress fiber assembly

1 reference

14 February 2019

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

detection of mechanical stimulus involved in sensory perception of sound

1 reference

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:Q9JI70

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

cartilage development

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

negative regulation of GTPase activity

1 reference

14 February 2019

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

IEA

spermatid development

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

artery smooth muscle contraction

1 reference

14 February 2019

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

cerebral cortex development

1 reference

14 February 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:Q9JI70

positive regulation of multicellular organism growth

1 reference

14 February 2019

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 2019

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

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

hippocampus development

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis

fat cell differentiation

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

1 reference

14 February 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:Q9JI70

1 reference

14 February 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:Q9JI70

'de novo' protein folding

1 reference

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

chaperone-mediated protein folding

1 reference

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

non-motile cilium assembly

3 references

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:Q9JI70

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:Q9JI70

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:Q9JI70

6 references

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

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

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

16 July 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70

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

IEA

developmental process

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

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

intracellular transport

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

7 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 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:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70