Sequence Detail

ID/Version

Q61124 P70400 O35934 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Battenin {ECO:0000305};AltName: Full=Protein CLN3;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 438 aa

Source

Organism mouse

See UniProt | EBI for 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.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	137	102	3	16

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