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Search results 101 to 144 out of 144 for Lztfl1

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Type Details Score
Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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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: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: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: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: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: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: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:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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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:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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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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Allele
Lztfl1<tm1.3Zpl> | MGI:7435277
Name: leucine zipper transcription factor-like 1; targeted mutation 1.3, Zhi-Ping Liu
Allele Type: Targeted
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Lztfl1/Lztfl1
Background: involves: 129S/SvEv * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0110139 | Bardet-Biedl syndrome 17
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Genotype
Genotype
Symbol: Lztfl1/Lztfl1
Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N
Zygosity: hm
Has Mutant Allele: true
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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
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
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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