ID/Version |
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Sequence description from provider |
RecName: Full=Battenin {ECO:0000305};AltName: Full=Protein CLN3;Flags: Precursor; | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
438
aa
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Source | |||||||||||||||
Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
J:34626
Lee RL, et al., Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3. Genomics. 1996 Aug 1;35(3):617-9
J:42687 Taschner PE, et al., Cross-species homology of the CLN3 gene. Neuropediatrics. 1997 Feb;28(1):18-20 J:57155 Katz ML, et al., A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J Neurosci Res. 1999 Aug 15;57(4):551-6 J:58230 Mitchison HM, et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol Dis. 1999 Oct;6(5):321-34 J:79615 Cotman SL, et al., Cln3( Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Nov 1;11(22):2709-21 J:95873 Fossale E, et al., Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004 Dec 10;5(1):57 J:114863 Cao Y, et al., Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem. 2006 Jul 21;281(29):20483-93 J:117797 Chang JW, et al., Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin. Hum Mol Genet. 2007 Feb 1;16(3):317-26 J:125194 Eliason SL, et al., A knock-in reporter model of Batten disease. J Neurosci. 2007 Sep 12;27(37):9826-34 J:138856 Uusi-Rauva K, et al., Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex. Exp Cell Res. 2008 Sep 10;314(15):2895-905 J:141466 Katz ML, et al., Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiol Dis. 2008 Feb;29(2):242-53 J:143718 Trost M, et al., The phagosomal proteome in interferon-gamma-activated macrophages. Immunity. 2009 Jan;30(1):143-54 J:160849 Stein CS, et al., Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla. Am J Physiol Cell Physiol. 2010 Jun;298(6):C1388-400 J:164047 Chan CH, et al., Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease. Neuropathol Appl Neurobiol. 2009 Apr;35(2):189-207 J:204172 Tecedor L, et al., CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells. J Neurosci. 2013 Nov 13;33(46):18065-79 J:216094 Schultz ML, et al., CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events. PLoS One. 2014;9(5):e96647 J:226833 Wavre-Shapton ST, et al., Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Deltaex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). Hum Mol Genet. 2015 Dec 15;24(24):7060-74 J:235261 Lyly A, et al., Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 2009;10:83 J:254965 Grunewald B, et al., Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. Elife. 2017 Nov 14;6:e28685 J:266792 Studniarczyk D, et al., Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease. eNeuro. 2018 Mar-Apr;5(2):ENEURO.0387-17.2018 J:282622 Chandrachud U, et al., Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function. J Biol Chem. 2015 Jun 5;290(23):14361-80 J:282684 Puranam KL, et al., CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol Genet Metab. 1999 Apr;66(4):294-308 J:282692 Luiro K, et al., CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. Hum Mol Genet. 2001 Sep 15;10(19):2123-31 J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/02/2024 MGI 6.24 |
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