(Q21418942)

English

Bardet-Biedl syndrome 4 (human)

mammalian protein found in Mus musculus

Bbs4
Bardet-Biedl syndrome 4 protein homolog
Bardet-Biedl syndrome 4 homolog

In more languages

default for all languages

No label defined

No description defined

Statements

1 reference

25 May 2022

UniProt protein ID

Tetratricopeptide-like helical domain superfamily

1 reference

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

UniProt protein ID

1 reference

25 May 2022

UniProt protein ID

molecular function

protein binding

determination method or standard

7 references

UniProt protein ID

10 August 2016

language of work or name

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

IntAct protein interaction database

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

determination method or standard

14 February 2019

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

IntAct protein interaction database

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

determination method or standard

14 February 2019

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

IntAct protein interaction database

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

determination method or standard

14 February 2019

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

IntAct protein interaction database

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

determination method or standard

microtubule motor activity

determination method or standard

4 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

UniProt protein ID

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

determination method or standard

14 February 2019

Mouse Genome Informatics

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

dynactin binding

determination method or standard

3 references

alpha-tubulin binding

determination method or standard

3 references

beta-tubulin binding

determination method or standard

3 references

microtubule organizing center

determination method or standard

1 reference

14 February 2019

UniProt protein ID

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

determination method or standard

photoreceptor inner segment

determination method or standard

1 reference

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

determination method or standard

1 reference

14 February 2019

UniProt protein ID

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

determination method or standard

photoreceptor connecting cilium

determination method or standard

1 reference

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Mouse Genome Informatics

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

determination method or standard

determination method or standard

1 reference

14 February 2019

UniProt protein ID

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

determination method or standard

cell projection

determination method or standard

1 reference

14 February 2019

UniProt protein ID

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

determination method or standard

photoreceptor outer segment

determination method or standard

1 reference

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Mouse Genome Informatics

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

determination method or standard

plasma membrane

determination method or standard

1 reference

14 February 2019

UniProt protein ID

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

determination method or standard

determination method or standard

3 references

14 February 2019

Mouse Genome Informatics

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

14 February 2019

Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth

Mouse Genome Informatics

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

determination method or standard

determination method or standard

5 references

14 February 2019

Mouse Genome Informatics

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

pericentriolar material

determination method or standard

determination method or standard

4 references

14 February 2019

UniProt protein ID

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

determination method or standard

14 February 2019

Mouse Genome Informatics

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

determination method or standard

14 February 2019

UniProt protein ID

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

centriolar satellite

determination method or standard

5 references

14 February 2019

UniProt protein ID

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

determination method or standard

14 February 2019

Mouse Genome Informatics

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

ciliary membrane

determination method or standard

determination method or standard

4 references

14 February 2019

Mouse Genome Informatics

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

determination method or standard

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

determination method or standard

14 February 2019

UniProt protein ID

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

determination method or standard

14 February 2019

Ensembl genome database project

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

determination method or standard

determination method or standard

1 reference

14 February 2019

Gene Ontology Consortium

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

determination method or standard

biological process

protein transport

determination method or standard

2 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

UniProt protein ID

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

determination method or standard

photoreceptor cell maintenance

determination method or standard

7 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Mouse Genome Informatics

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

determination method or standard

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Mouse Genome Informatics

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

determination method or standard

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Mouse Genome Informatics

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

determination method or standard

negative regulation of gene expression

determination method or standard

3 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

cell projection organization

determination method or standard

2 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

UniProt protein ID

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

determination method or standard

neuron migration

determination method or standard

3 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

protein localization to photoreceptor outer segment

determination method or standard

3 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

hippocampus development

determination method or standard

3 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

retina homeostasis

determination method or standard

3 references

UniProt protein ID

10 August 2016

language of work or name

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

determination method or standard

1 reference

UniProt protein ID

10 August 2016

language of work or name

mitotic cytokinesis

determination method or standard

3 references

centrosome cycle

determination method or standard

non-motile cilium assembly

determination method or standard

4 references

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

14 February 2019

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

Mouse Genome Informatics

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

determination method or standard

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

determination method or standard

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

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

Identifiers

RefSeq protein ID

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

UniProt protein ID

1 reference

25 May 2022

UniProt protein ID

Ensembl protein ID

ENSMUSP00000026265

1 reference

ensembl Release 106

Ensembl protein ID

ENSMUSP00000026265

ENSMUSP00000150973

1 reference

ensembl Release 106

Ensembl protein ID

ENSMUSP00000150973

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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