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Search results 301 to 364 out of 364 for Cln3

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Type Details Score
Protein
D3YUU4
Organism: Mus musculus/domesticus
Length: 195  
Fragment?: true
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DO Term
DOID:0110731 | neuronal ceroid lipofuscinosis 3
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: involves: 129S6/SvEvTac * NIH Black Swiss
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: 129S6/SvEvTac-Cln3
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: involves: 129S6/SvEvTac * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Allele
Cln3<tm1.1Mem> | MGI:2388888
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1.1, Marcy MacDonald
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Cln3<em1Dprc> | MGI:6474168
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; endonuclease-mediated mutation 1, David Pearce
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
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Publication
2142158 | J:10609
First Author: Granger BL
Year: 1990
Journal: J Biol Chem
Title: Characterization and cloning of lgp110, a lysosomal membrane glycoprotein from mouse and rat cells.
Volume: 265
Issue: 20
Pages: 12036-43
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Publication
7553855 | -
 
Year: 1995
Journal: Cell
Title: Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
Volume: 82
Issue: 6
Pages: 949-57
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Publication
9311735 | -
First Author: Munroe PB
Year: 1997
Journal: Am J Hum Genet
Title: Spectrum of mutations in the Batten disease gene, CLN3.
Volume: 61
Issue: 2
Pages: 310-6
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Publication
1482112 | -
 
First Author: Schafer WR
Year: 1992
Journal: Annu Rev Genet
Title: Protein prenylation: genes, enzymes, targets, and functions.
Volume: 26
Pages: 209-37
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Publication
7716512 | -
First Author: Casey PJ
Year: 1995
Journal: Science
Title: Protein lipidation in cell signaling.
Volume: 268
Issue: 5208
Pages: 221-5
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Allele
Cln3<em1Smoc> | MGI:7289032
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Allele
Cln3<tm1Mkat> | MGI:3623134
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1, Martin L Katz
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Cln3<tm1Blda> | MGI:3759415
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1, Beverly L Davidson
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Publication
9590435 | J:47451
First Author: Shibuya H
Year: 1998
Journal: J Neurosci Res
Title: Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs.
Volume: 52
Issue: 3
Pages: 268-75
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: involves: 129S/SvEv * CD-1
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: C57BL/6-Cln3
Zygosity: hm
Has Mutant Allele: true
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Protein
Q6PAH4
Organism: Mus musculus/domesticus
Length: 414  
Fragment?: false
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Protein
Q8C5B1
Organism: Mus musculus/domesticus
Length: 438  
Fragment?: false
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Allele
Cln3<+> | MGI:2433822
   
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; wild type
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Strain
MGI:2174088 | 129S6-Cln3<tm1Nbm>/J
Attribute String: mutant strain, targeted mutation
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Strain
MGI:5501404 | B6.129S6-Cln3<tm1Nbm>/H
Attribute String: congenic, mutant strain, targeted mutation
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Strain
MGI:5784551 | B6.129S6-Cln3<tm1Nbm>/J
Attribute String: targeted mutation, mutant strain, congenic
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Strain
MGI:3715531 | 129S6/SvEvTac-Cln3<tm1Nbm>
Attribute String: coisogenic, mutant strain, targeted mutation
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: involves: 129X1/SvJ * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: B6.129-Cln3
Zygosity: hm
Has Mutant Allele: true
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Allele
Cln3<tm1Mem> | MGI:2388887
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1, Marcy MacDonald
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Cln3<Gt(OST284767)Lex> | MGI:4264344
 
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; gene trap OST284767, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Cln3<Gt(OST312289)Lex> | MGI:4275737
 
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; gene trap OST312289, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Cln3<Gt(OST452177)Lex> | MGI:4322163
 
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; gene trap OST452177, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Cln3<tm1(KOMP)Vlcg> | MGI:5051582
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1, Velocigene
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Strain
MGI:2657078 | STOCK Cln3<tm1.1Mem>/J
Attribute String: mutant stock, targeted mutation
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Strain
MGI:5313391 | B6.129(Cg)-Cln3<tm1.1Mem>/J
Attribute String: mutant strain, congenic, targeted mutation
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Allele
Cln3<tm1a(EUCOMM)Wtsi> | MGI:4431676
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout, Reporter
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Allele
Cln3<tm1e(EUCOMM)Wtsi> | MGI:4432340
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1e, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Cln3<Gt(IST13793B7)Tigm> | MGI:5187561
 
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; gene trap IST13793B7, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Cln3<tm1b(EUCOMM)Wtsi> | MGI:5692572
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1b, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Strain
MGI:6474169 | C57BL/6-Cln3<em1Dprc>
Attribute String: mutant strain, endonuclease-mediated mutation, coisogenic
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Allele
Cln3<em1Gpt> | MGI:7297124
Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; endonuclease-mediated mutation 1, GemPharmatech Co., Ltd
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Genotype
Genotype
Symbol: Cln3/Cln3
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true
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Publication
15210110 | -
First Author: de Bruin RA
Year: 2004
Journal: Cell
Title: Cln3 activates G1-specific transcription via phosphorylation of the SBF bound repressor Whi5.
Volume: 117
Issue: 7
Pages: 887-98
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Strain
MGI:4429389 | B6.129X1-Cln3<tm1Mkat>/Mmmh
Attribute String: targeted mutation, mutant strain, congenic
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Strain
MGI:3759475 | B6.129-Cln3<tm1Blda>
Attribute String: targeted mutation, mutant strain, congenic
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Strain
MGI:6143256 | C57BL/6N-Cln3<tm1a(EUCOMM)Wtsi>
Attribute String: mutant strain, coisogenic, targeted mutation
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Allele
Clcn3<tm1Suc> | MGI:3530047
Name: chloride channel, voltage-sensitive 3; targeted mutation 1, Shinichi Uchida
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Clcn6<tm1Tjj> | MGI:3687967
Name: chloride channel, voltage-sensitive 6; targeted mutation 1, Thomas J Jentsch
Allele Type: Targeted
Attribute String: Null/knockout
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Protein Domain
IPR018460 | Battenin_disease_Cln3_subgr
Type: Family
Description: Batten's disease, the juvenile variant of neuronal ceroid lipofuscionosis(NCL), is a recessively inherited disorder affecting children of 5-10years of age. The disease is characterised by progressive loss of vision,seizures and psychomotor disturbances. Biochemically, the disease ischaracterised by lysosomal accumulation of hydrophobic material, mainly ATPsynthase subunit C, largely in the brain but also in other tissues. The disease is fatal within a decade [].Mutations in the CLN3 gene are believed to cause Batten's disease []. TheCLN3 gene, with a predicted 438-residue product, maps to chromosome p16p12.1. The gene contains at least 15 exons spanning 15kb and is highly conserved in mammals []. A 1.02kb deletion in the CLN3 gene, occurring in either one or both alleles, is found in 85% of Batten disease chromosomes causing a frameshift generating a predicted translated product of 181 amino acid residues [, ]. 22 other mutations, including deletions, insertions and point mutations, have beenreported. It has been suggested that such mutations result in severelytruncated CLN3 proteins, or affect its structure/conformation [, ].CLN3 proteins, which are believed to associate in complexes, are heavilyglycosylated lysosomal membrane proteins [], containing complex Asn-linkedoligosaccharides []. Extensive glycosylation is important for the stabilityof these lysosomal proteins in the highly hydrolytic lysosomal lumen. Lysosomalsequestration of active lysosomal enzymes, transport of degraded moleculesfrom the lysosomes, and fusion and fission between lysosomes and otherorganelles. The CLN3 protein is a 43kDa, highly hydrophobic, multi-transmembrane (TM),phosphorylated protein []. Hydrophobicity analysis predicts 6-9 TMsegments, suggesting that CLN3 is a TM protein that may function as achaperone or signal transducer. The majority of putative phosphorylationsites are found in the N-terminal domain, encompassing 150 residues [].Phosphorylation is believed to be important for membrane compartment interaction, in the formation of functional complexes, and in regulation and interactions with other proteins [].CLN3 contains several motifs that may undergo lipid post-translationalmodifications (PTMs). PTMs contribute to targeting and anchoring of modifiedproteins to distinct biological membranes []. There are three general classes of lipid modification: N-terminal myristoylation, C-terminal prenylation, and palmitoylation of cysteine residues. Such modifications are believed to be a common form of PTM occurring in 0.5% of all cellularproteins, including brain tissue []. The C terminus of the CLN3 containsvarious lipid modification sites: C435, target for prenylation; G419, target for myristoylation; and C414, target for palmitoylation [].Prenylation results in protein hydrophobicity, influences interaction withupstream regulatory proteins and downstream effectors, facilitates protein-protein interaction (multisubunit assembly) and promotes anchoring tomembrane lipids. The prenylation motif, Cys-A-A-X, is highly conservedwithin CLN3 protein sequences of different species [].Species with known CLN3 protein homologues include: Homo sapiens, Canis familiaris, Mus musculus, Saccharomyces cerevisiae and Drosophila melanogaster.
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Protein Coding Gene
MGI:1347049 | Clcn6
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI:103555 | Clcn3
Type: protein_coding_gene
Organism: mouse, laboratory
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Allele
Ppt1<tm1Hof> | MGI:2176390
Name: palmitoyl-protein thioesterase 1; targeted mutation 1, Sandra L Hoffmann
Allele Type: Targeted
Attribute String: Null/knockout
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Genotype
Genotype
Symbol: Ppt1/Ppt1
Background: involves: 129S6/SvEvTac * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Clcn3/Clcn3
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Clcn6/Clcn6
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: hm
Has Mutant Allele: true
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Protein Coding Gene
MGI:1298204 | Ppt1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
20805243 | -
First Author: Lunde BM
Year: 2011
Journal: Nucleic Acids Res
Title: Structural insights into cis element recognition of non-polyadenylated RNAs by the Nab3-RRM.
Volume: 39
Issue: 1
Pages: 337-46
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Publication
7962083 | -
First Author: Wilson SM
Year: 1994
Journal: J Cell Biol
Title: Characterization of nuclear polyadenylated RNA-binding proteins in Saccharomyces cerevisiae.
Volume: 127
Issue: 5
Pages: 1173-84
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Publication
7476874 | -
First Author: Sugimoto K
Year: 1995
Journal: Mol Gen Genet
Title: Dosage suppressors of the dominant G1 cyclin mutant CLN3-2: identification of a yeast gene encoding a putative RNA/ssDNA binding protein.
Volume: 248
Issue: 6
Pages: 712-8
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Protein Domain
IPR034167 | Nab3_RRM
Type: Domain
Description: This entry represents the RNA recognition motif (RRM) of Nab3p (also known as Hmd1p), an acidic nuclear polyadenylated RNA-binding protein that is essential for cell viability. Nab3p is predominantly localized within the nucleoplasm and essential for growth in budding yeast []. It plays an important role in the maintenance of CLN3 mRNA levels []. It is part of the Nrd1 complex (Nrd1p-Nab3p-Sen1p) that directs the termination and processing of short RNA polymerase II transcripts and regulates cellular response to nutrient availability []. Nab3p contains an N-terminal aspartic/glutamic acid-rich region, a central RNA recognition motif (RRM), and a C-terminal region rich in glutamine and proline residues [].
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Publication
7668354 | J:26668
First Author: Järvelä IE
Year: 1995
Journal: Am J Med Genet
Title: Physical map of the region containing the gene for Batten disease (CLN3).
Volume: 57
Issue: 2
Pages: 316-9
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Publication
9753630 | J:50043
First Author: Croopnick JB
Year: 1998
Journal: Biochem Biophys Res Commun
Title: The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease.
Volume: 250
Issue: 2
Pages: 335-41
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Publication
22431520 | -
First Author: Darby MM
Year: 2012
Journal: Mol Cell Biol
Title: The Saccharomyces cerevisiae Nrd1-Nab3 transcription termination pathway acts in opposition to Ras signaling and mediates response to nutrient depletion.
Volume: 32
Issue: 10
Pages: 1762-75
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Publication
30089511 | J:317332
First Author: Lange J
Year: 2018
Journal: Acta Neuropathol Commun
Title: Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
Volume: 6
Issue: 1
Pages: 74
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Publication
9344361 | J:44576
First Author: Katz ML
Year: 1997
Journal: Invest Ophthalmol Vis Sci
Title: Immunochemical localization of the Batten disease (CLN3) protein in retina.
Volume: 38
Issue: 11
Pages: 2375-86
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