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Search results 1 to 100 out of 148 for Mkks

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0.046s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Protein Domain
Type: Family
Description: Molecular chaperone 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 []. It may play a role in protein processing in limb, cardiac and reproductive system development [].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: mouse, laboratory
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
Protein
Organism: Mus musculus/domesticus
Length: 121  
Fragment?: false
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
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
Publication
First Author: Scott CA
Year: 2017
Journal: PLoS Genet
Title: Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
Volume: 13
Issue: 7
Pages: e1006936
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
Protein
Organism: Mus musculus/domesticus
Length: 570  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
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: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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
Specimen Label: None
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
Specimen Label: None
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6781701
Assay Type: RT-PCR
Annotation Date: 2021-10-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3673015
Stage: TS15
Assay Id: MGI:6781748
Age: embryonic day 9.5
Specimen Label: pSHF
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6781701
Assay Type: RT-PCR
Annotation Date: 2021-10-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:6781748
Age: embryonic day 9.5
Specimen Label: embryo
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6883645
Assay Type: RT-PCR
Annotation Date: 2022-02-28
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689421
Stage: TS21
Assay Id: MGI:6883649
Age: embryonic day 13.5
Specimen Label: Control
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7327431
Assay Type: RT-PCR
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7327603
Age: postnatal
Specimen Label: +/+ +RT
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7327431
Assay Type: RT-PCR
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7327603
Age: postnatal
Specimen Label: +/- +RT
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7327431
Assay Type: RT-PCR
Annotation Date: 2022-08-08
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7327603
Age: postnatal
Specimen Label: -/- +RT
Detected: false
Specimen Num: 5
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
Specimen Label: E8.5
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1915527
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b left
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b left
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1757227
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b left
Detected: true
Specimen Num: 1
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1759727
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Note: Expression is at the basal end of Kolliker's organ.
Specimen Label: 3b left
Detected: true
Specimen Num: 1
GXD Expression        
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1906127
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b left
Detected: false
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3582727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b left
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1915527
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b right
Detected: true
Specimen Num: 2
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1915727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b right
Detected: true
Specimen Num: 2
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:3582727
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b right
Detected: true
Specimen Num: 2
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1757227
Pattern: Not Specified
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b right
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1759727
Pattern: Regionally restricted
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Note: Expression is at the basal end of Kolliker's organ.
Specimen Label: 3b right
Detected: true
Specimen Num: 2
GXD Expression        
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1906127
Stage: TS27
Assay Id: MGI:7327599
Age: postnatal day 0
Specimen Label: 3b right
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:7327430
Assay Type: RNA in situ
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1666817
Pattern: Not Specified
Stage: TS17
Assay Id: MGI:7327604
Age: embryonic day 10.5
Specimen Label: S2a
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1666819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:7327599
Age: embryonic day 11.5
Specimen Label: S2b
Detected: true
Specimen Num: 3
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:7327599
Age: embryonic day 11.5
Specimen Label: S2b
Detected: true
Specimen Num: 3
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619821
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:7327599
Age: embryonic day 13.5
Specimen Label: S2c
Detected: true
Specimen Num: 4
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1741921
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:7327599
Age: embryonic day 13.5
Specimen Label: S2c
Detected: true
Specimen Num: 4
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3265221
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:7327599
Age: embryonic day 13.5
Specimen Label: S2c
Detected: true
Specimen Num: 4
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1758921
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:7327599
Age: embryonic day 13.5
Specimen Label: S2c
Detected: true
Specimen Num: 4
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2022-08-08
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3276321
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:7327599
Age: embryonic day 13.5
Note: Expression is in the snout.
Specimen Label: S2c
Detected: true
Specimen Num: 4
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: Yue H
Year: 2021
Journal: Front Neurol
Title: Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency.
Volume: 12
Pages: 579998
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: Patnaik SR
Year: 2019
Journal: Cell Mol Life Sci
Title: Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation.
Volume: 76
Issue: 4
Pages: 757-775
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: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
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: 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: 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: GemPharmatech
Year: 2020
Title: GemPharmatech Website.