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Search results 101 to 107 out of 107 for Bbs5

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0.016s

Type

Details

Score

Protein Domain

IPR030804 | BBS5/fem-3

Type:

Family

Description:

Bardet-Biedl syndrome 5 protein (BBS5) is part of the BBSome complex that may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. Mutations in the BBS5 gene cause Bardet-Biedl syndrome 5, which is a syndrome characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [, ]. Also included in this family is fem-3, required for male development in Caenorhabditis elegans. Together with fem-2, fem-3 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1, a transcription factor that is the terminal effector of the sex-determination pathway [].

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Protein

A2AUC6

Organism:	Mus musculus/domesticus
Length:	320
Fragment?:	false

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Publication

21344540 | -

First Author:	Deveault C
Year:	2011
Journal:	Hum Mutat
Title:	BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Volume:	32
Issue:	6
Pages:	610-9

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Protein

Q9CZQ9

Organism:	Mus musculus/domesticus
Length:	341
Fragment?:	false

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Publication

24939912 | J:214729

First Author:	Su X
Year:	2014
Journal:	Hum Mol Genet
Title:	Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Volume:	23
Issue:	20
Pages:	5441-51

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Publication

29126234 | J:253589

First Author:	Dilan TL
Year:	2018
Journal:	Hum Mol Genet
Title:	Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
Volume:	27
Issue:	2
Pages:	283-294

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Publication

17574030 | J:247414

First Author:	Nachury MV
Year:	2007
Journal:	Cell
Title:	A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
Volume:	129
Issue:	6
Pages:	1201-13

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