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Search results 1 to 100 out of 112 for Mkks

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0.039s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Rattus norvegicus
Protein Domain
Type: Family
Description: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, also known as BBS6) is a chaperonin-like protein that is involved in folding newly synthesised polypeptides []. As part of the BBS/CCT complex mediates BBSome assembly, which is involved in regulating ciliogenesis and transport of vesicles to the cilia []. During mitosis, MKKS localises throughout the pericentriolar material (PCM) and the intercellular bridge. It is required for cytokinesis []. Mutations in MKKS gene cause McKusick-Kaufman syndrome (MKKS), which is autosomal recessive developmental disorder []. Mutations in MKKS gene also cause Bardet-Biedl syndrome 6 (BBS6), which is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Stone DL
Year: 2000
Journal: Nat Genet
Title: Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
Volume: 25
Issue: 1
Pages: 79-82
Publication
First Author: Seo S
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Volume: 107
Issue: 4
Pages: 1488-93
Protein
Organism: Mus musculus
Length: 121  
Fragment?: false
Publication
First Author: Rachel RA
Year: 2012
Journal: J Clin Invest
Title: Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Volume: 122
Issue: 4
Pages: 1233-45
Publication
First Author: Kim JC
Year: 2005
Journal: J Cell Sci
Title: MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Volume: 118
Issue: Pt 5
Pages: 1007-20
Protein
Organism: Mus musculus
Length: 570  
Fragment?: false
Protein
Organism: Mus musculus
Length: 502  
Fragment?: false
Publication
First Author: Fath MA
Year: 2005
Journal: Hum Mol Genet
Title: Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Volume: 14
Issue: 9
Pages: 1109-18
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression      
Probe: MGI:3841748
Assay Type: RT-PCR
Annotation Date: 2009-04-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3589918
Stage: TS18
Assay Id: MGI:3842098
Age: embryonic day 11.0
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3841748
Assay Type: RT-PCR
Annotation Date: 2009-04-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3589918
Stage: TS18
Assay Id: MGI:3842098
Age: embryonic day 11.0
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:3819450
Assay Type: RNA in situ
Annotation Date: 2009-01-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603913
Pattern: Widespread
Stage: TS13
Assay Id: MGI:3828695
Age: embryonic day 8.5
Detected: true
Specimen Num: 1
Publication
First Author: Beyer AM
Year: 2010
Journal: Am J Physiol Heart Circ Physiol
Title: Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
Volume: 299
Issue: 6
Pages: H1902-7
Publication
First Author: Tobin JL
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Volume: 105
Issue: 18
Pages: 6714-9
Publication
First Author: Awwad JT
Year: 1999
Journal: Hum Reprod
Title: The SCID mouse: an experimental model for endometriosis.
Volume: 14
Issue: 12
Pages: 3107-11
Publication
First Author: Jagger D
Year: 2011
Journal: Hum Mol Genet
Title: Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
Volume: 20
Issue: 3
Pages: 466-81
Publication
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
Publication
First Author: Rahmouni K
Year: 2008
Journal: J Clin Invest
Title: Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Volume: 118
Issue: 4
Pages: 1458-67
Publication
First Author: Shah AS
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Volume: 105
Issue: 9
Pages: 3380-5
Publication
First Author: Guo DF
Year: 2011
Journal: Am J Physiol Renal Physiol
Title: Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
Volume: 300
Issue: 2
Pages: F574-80
Publication
First Author: Kaushik AP
Year: 2009
Journal: J Orthop Res
Title: Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Volume: 27
Issue: 8
Pages: 1093-9
Publication
First Author: Starks RD
Year: 2015
Journal: PLoS Genet
Title: Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.
Volume: 11
Issue: 6
Pages: e1005311
Publication
First Author: Hernandez-Hernandez V
Year: 2013
Journal: Hum Mol Genet
Title: Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Volume: 22
Issue: 19
Pages: 3858-68
Publication
First Author: Mykytyn K
Year: 2003
Journal: Am J Hum Genet
Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Volume: 72
Issue: 2
Pages: 429-37
Publication
First Author: Seo S
Year: 2009
Journal: Hum Mol Genet
Title: Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Volume: 18
Issue: 7
Pages: 1323-31
Publication
First Author: Ross AJ
Year: 2005
Journal: Nat Genet
Title: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Volume: 37
Issue: 10
Pages: 1135-40
Publication
First Author: Zhang Q
Year: 2012
Journal: J Biol Chem
Title: Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Volume: 287
Issue: 24
Pages: 20625-35
Publication
First Author: Forti E
Year: 2007
Journal: Int J Biochem Cell Biol
Title: Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
Volume: 39
Issue: 5
Pages: 1055-62
Publication
First Author: Burnicka-Turek O
Year: 2016
Journal: Hum Mol Genet
Title: Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Volume: 25
Issue: 14
Pages: 3011-3028
Publication
First Author: Klattig J
Year: 2007
Journal: Sex Dev
Title: WT1-mediated gene regulation in early urogenital ridge development.
Volume: 1
Issue: 4
Pages: 238-54
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication  
First Author: Tamplin OJ
Year: 2008
Journal: BMC Genomics
Title: Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives.
Volume: 9
Pages: 511
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
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
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication      
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
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).
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
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
Publication      
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
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication
First Author: Hsu CH
Year: 2010
Journal: Neurodegener Dis
Title: LRRK2 and the stress response: interaction with MKKs and JNK-interacting proteins.
Volume: 7
Issue: 1-3
Pages: 68-75
DO Term
Interaction Experiment
Description: LRRK2 and the stress response: interaction with MKKs and JNK-interacting proteins.
DO Term
Allele
Name: McKusick-Kaufman syndrome; targeted mutation 1, Val C Sheffield
Allele Type: Targeted
Attribute String: Null/knockout
Publication categories: ProxyCollection
Genotype
Symbol: Mkks/Mkks
Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Zygosity: hm
Has Mutant Allele: true
Publication
First Author: May-Simera HL
Year: 2016
Journal: Cell Rep
Title: Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.
Volume: 17
Issue: 5
Pages: 1399-1413
Publication
First Author: Rachel RA
Year: 2015
Journal: Hum Mol Genet
Title: CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.
Volume: 24
Issue: 13
Pages: 3775-91
Publication
First Author: Han J
Year: 1996
Journal: J Biol Chem
Title: Characterization of the structure and function of a novel MAP kinase kinase (MKK6).
Volume: 271
Issue: 6
Pages: 2886-91
Publication  
First Author: Chan-Hui PY
Year: 1998
Journal: Biochem J
Title: Human mitogen-activated protein kinase kinase kinase mediates the stress-induced activation of mitogen-activated protein kinase cascades.
Volume: 336 ( Pt 3)
Pages: 599-609
Publication
First Author: Xu Z
Year: 2001
Journal: Mol Cell Biol
Title: The MLK family mediates c-Jun N-terminal kinase activation in neuronal apoptosis.
Volume: 21
Issue: 14
Pages: 4713-24
Publication
First Author: Ola A
Year: 2010
Journal: Br J Pharmacol
Title: The mixed-lineage kinase 1-3 signalling pathway regulates stress response in cardiac myocytes via GATA-4 and AP-1 transcription factors.
Volume: 159
Issue: 3
Pages: 717-25
Publication
First Author: Craige SM
Year: 2016
Journal: Biochim Biophys Acta
Title: Mixed - Lineage Protein kinases (MLKs) in inflammation, metabolism, and other disease states.
Volume: 1862
Issue: 9
Pages: 1581-6
Publication
First Author: Handley ME
Year: 2007
Journal: Int J Exp Pathol
Title: Mixed lineage kinases (MLKs): a role in dendritic cells, inflammation and immunity?
Volume: 88
Issue: 2
Pages: 111-26
Publication
First Author: Durkin JT
Year: 2004
Journal: Biochemistry
Title: Phosphoregulation of mixed-lineage kinase 1 activity by multiple phosphorylation in the activation loop.
Volume: 43
Issue: 51
Pages: 16348-55