about
P688
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyA novel protein LZTFL1 regulates ciliary trafficking of the BBSome and SmoothenedBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnessesA core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesisIntrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeBBS mutations modify phenotypic expression of CEP290-related ciliopathiesRequirement of Bardet-Biedl syndrome proteins for leptin receptor signalingLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaImpaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndromeThe BBSome controls IFT assembly and turnaround in cilia.Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegenerationPhenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityDisruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesBardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary ciliaGene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowthGene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damageLeptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeBardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityBardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyInhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeLoss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseCiliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse modelTemporal expression pattern of Bardet-Biedl syndrome genes in adipogenesisDAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.
P921
Q24295491-559F39DA-6EA4-4CF9-A87F-F059B50B238CQ24296671-E0DFDD4B-88E8-4CEA-A15D-D38D3C409289Q24298940-6618EFE7-7006-41C8-A863-74E66FF4E4DCQ24301377-ACD6301B-FFD1-4C2E-812C-281745B5487FQ24306827-DABD3ECB-B84C-4BF6-8E6A-2104E145E47DQ24309410-5F6AEB77-49B3-450A-8E49-0DC5CBDD2227Q24311615-F86639E2-64FB-488F-AB25-07FCE77FC3B5Q24313282-4FD79AD5-BCFB-45AB-B9BE-1E9815401DABQ24317466-86AACD96-C1D7-4E03-AFC9-518172EB043DQ24317488-DACE3923-2A73-4E46-8EAF-2935A86C2DBBQ24317556-1F100BC6-913F-459B-BF29-0780F27BF434Q24652543-BFADAE69-0209-4E2C-97ED-ADF7CABE60E7Q28000109-EC351359-E520-4811-847A-B58C20359D11Q28292806-628DCEBB-499A-40F8-A03B-A177A7165B60Q28505955-A4C33F95-4140-4DF1-A0FF-C137FB2ED8D9Q28505984-5B862E97-FA83-4B67-9162-83A93EB1D545Q28506652-E45CB522-B588-408D-A19E-D7A106171BF7Q28506905-8E5DF9F0-BB0E-4610-94B8-A07D64C94955Q28507533-32828BCA-5544-434D-B6E1-8E3E5B660AF8Q28508700-36124A64-FADF-4732-84E5-1F9F83CAA7EBQ28509373-83C68C41-CB2A-4A1C-83FB-024850751898Q28511291-1FE1CF92-699F-428B-91F1-3A161D9A91FCQ28511839-9CC41C24-8E19-4DCE-AF8F-D4813910E643Q28513461-4774527F-AB87-4FCF-9866-A7F741BDC560Q28585659-A35F785E-5B0D-4C56-9A51-2A769AB7013DQ28585667-6547417B-5E69-4FB8-AE49-4571BB50340AQ28593460-BDF2DB8E-71D0-46CB-AA33-205D2E60D3E9Q28594986-3D417E56-6C77-421F-A7D3-8319AB5E67C4Q28595018-4DC0E66C-BE31-42E1-9419-99E04C5FD1F1Q42804683-B4F1A22C-F77B-4D4D-B7AB-4827ABDF25CDQ53551189-3292D89A-E328-4AF3-9C8A-1100098B0D48
P921
description
mammalian protein found in Mus musculus
@en
protein
@id
proteinë
@sq
proteïne in Bardet-Biedl syndrome 4 (human)
@nl
protèin
@ace
بروتين في فأر المنازل
@ar
name
Bardet-Biedl syndrome 4 (human)
@en
Bardet-Biedl syndrome 4
@nl
type
label
Bardet-Biedl syndrome 4 (human)
@en
Bardet-Biedl syndrome 4
@nl
altLabel
Bardet-Biedl syndrome 4 homolog
@en
Bardet-Biedl syndrome 4 protein homolog
@en
Bbs4
@en
prefLabel
Bardet-Biedl syndrome 4 (human)
@en
Bardet-Biedl syndrome 4
@nl
P680
P681
P682
P352
P31
P352
P637
NP_001346487
P680
P681
P682
P702
P703
P705
ENSMUSP00000026265
ENSMUSP00000150973