(Q21418942)

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q8C1Z7

membrane protein

1 reference

based on heuristic

inferred from GOA cell component → membrane

Tetratricopeptide repeat-containing domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Tetratricopeptide repeat family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

25 May 2022

1 reference

25 May 2022

7 references

10 August 2016

14 February 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:Q8C1Z7

14 February 2019

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 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:Q8C1Z7

14 February 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:Q8C1Z7

14 February 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:Q8C1Z7

14 February 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:Q8C1Z7

microtubule motor activity

IPI

4 references

10 August 2016

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

3 references

alpha-tubulin binding

3 references

3 references

microtubule organizing center

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

photoreceptor inner segment

1 reference

14 February 2019

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

photoreceptor connecting cilium

1 reference

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

photoreceptor outer segment

1 reference

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

3 references

5 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 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:Q8C1Z7

14 February 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:Q8C1Z7

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

IDA

pericentriolar material

3 references

4 references

14 February 2019

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

5 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 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:Q8C1Z7

14 February 2019

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

3 references

2 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

4 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

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

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

14 February 2019

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

2 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

2 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

2 references

10 August 2016

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

photoreceptor cell maintenance

7 references

10 August 2016

14 February 2019

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

negative regulation of gene expression

IGI

cell projection organization

IMP

3 references

2 references

10 August 2016

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

3 references

10 August 2016

14 February 2019

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

protein localization to photoreceptor outer segment

IGI

3 references

10 August 2016

14 February 2019

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

IMP

hippocampus development

3 references

10 August 2016

14 February 2019

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

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:Q8C1Z7

3 references

10 August 2016

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:Q8C1Z7

14 February 2019

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

1 reference

10 August 2016

regulation of cytokinesis

3 references

3 references

protein localization to cilium

protein localization to centrosome

ISO

3 references

maintenance of protein location in nucleus

ISO

3 references

microtubule anchoring at centrosome

ISO

3 references

3 references

3 references

non-motile cilium assembly

4 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:Q8C1Z7

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:Q8C1Z7

14 February 2019

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

14 February 2019

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8C1Z7

IMP

has part(s)

tetratricopeptide repeat

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q8C1Z7

Tetratricopeptide repeat-containing domain

1 reference

InterPro Release 71.0