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Search results 201 to 245 out of 245 for Bbs9

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Type Details Score
Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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DO Term
DOID:0110131 | Bardet-Biedl syndrome 9
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Protein
D3Z6T1
Organism: Mus musculus/domesticus
Length: 132  
Fragment?: true
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Protein
F6XSQ3
Organism: Mus musculus/domesticus
Length: 163  
Fragment?: true
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Protein
D3Z389
Organism: Mus musculus/domesticus
Length: 147  
Fragment?: true
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Protein Domain
IPR026511 | PTHB1
Type: Family
Description: Parathyroid hormone-responsive B1 (PTHB1, also known as BBS9 in human) is part of the BBSome complex. The BBSome complex (contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10) is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localises to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane [].
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Protein Domain
IPR032728 | BBS1_N
Type: Domain
Description: This entry represents the N-terminal domain of the Bardet-Biedl syndrome 1 protein (BBS1).Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].
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Protein
Q811G0
Organism: Mus musculus/domesticus
Length: 885  
Fragment?: false
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Protein
Q3TTI7
Organism: Mus musculus/domesticus
Length: 277  
Fragment?: false
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Protein
A0A494B9Z5
Organism: Mus musculus/domesticus
Length: 452  
Fragment?: false
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Protein
A0A494B9R9
Organism: Mus musculus/domesticus
Length: 164  
Fragment?: false
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Publication
33517424 | J:313262
First Author: Hsu Y
Year: 2021
Journal: Hum Mol Genet
Title: Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.
Volume: 30
Issue: 1
Pages: 87-102
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Publication
12118255 | -
First Author: Mykytyn K
Year: 2002
Journal: Nat Genet
Title: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Volume: 31
Issue: 4
Pages: 435-8
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Publication
12016587 | -
First Author: Katsanis N
Year: 2002
Journal: Am J Hum Genet
Title: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Volume: 71
Issue: 1
Pages: 22-9
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Publication
20451172 | -
First Author: Riazuddin SA
Year: 2010
Journal: Am J Hum Genet
Title: A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Volume: 86
Issue: 5
Pages: 805-12
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Protein
Q3TQ82
Organism: Mus musculus/domesticus
Length: 324  
Fragment?: true
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Protein Domain
IPR028796 | BBS8
Type: Family
Description: Tetratricopeptide repeat protein 8 (TTC8, also known as BBS8) is part of the BBSome complex (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10), which is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of the BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. BBS8 is one of the genes involved in BBS. A splice-site mutation in TTC8/BBS8 is also known to cause nonsyndromic retinitis pigmentosa (RP) [].
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Protein Domain
IPR028784 | BBS1
Type: Family
Description: Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS1.
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Protein Domain
IPR028786 | BBS4
Type: Family
Description: Bardet-Biedl syndrome is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. Bardet-Biedl syndrome proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10) form the BBSome complex, which may function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS4. It may participate in triallelic inheritance with BBS2 and BBS1 [].
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Protein
Q3V3N7
Organism: Mus musculus/domesticus
Length: 593  
Fragment?: false
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Protein
A0A494B8X5
Organism: Mus musculus/domesticus
Length: 496  
Fragment?: false
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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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Publication
18032602 | J:128532
First Author: Davis RE
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Volume: 104
Issue: 49
Pages: 19422-7
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Publication
18334641 | J:133334
First Author: Berbari NF
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
Volume: 105
Issue: 11
Pages: 4242-6
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Protein
D3YYH2
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: true
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Protein
Q8C1Z7
Organism: Mus musculus/domesticus
Length: 520  
Fragment?: false
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Protein
Q8VD72
Organism: Mus musculus/domesticus
Length: 515  
Fragment?: false
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Protein
A6H669
Organism: Mus musculus/domesticus
Length: 520  
Fragment?: false
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Protein
A0A1L1SV19
Organism: Mus musculus/domesticus
Length: 150  
Fragment?: true
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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