CLN3

Ceroid-lipofuscinosis, neuronal 3
Identifiers
Symbols	CLN3; BTS; JNCL; MGC102840
External IDs	OMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3 Gene
Gene Ontology Molecular function • protein binding • calcium-dependent protein binding • unfolded protein binding Cellular component • Golgi membrane • membrane fraction • nucleus • cytoplasm • mitochondrion • lysosome • lysosomal membrane • early endosome • late endosome • autophagic vacuole • endoplasmic reticulum • Golgi apparatus • Golgi stack • trans-Golgi network • cytosol • plasma membrane • caveola • synaptic vesicle • integral to membrane • integral to endoplasmic reticulum membrane • neuron projection • cytoplasmic vesicle part • membrane raft Biological process • autophagic vacuole fusion • regulation of action potential • globoside metabolic process • protein folding • cellular amino acid metabolic process • ceramide metabolic process • glucosylceramide metabolic process • galactosylceramide metabolic process • sphingomyelin metabolic process • amino acid transport • receptor-mediated endocytosis • vacuolar transport • lysosome organization • lysosomal lumen acidification • cell death • associative learning • arginine transport • cellular membrane organization • macroautophagy • negative regulation of macroautophagy • protein processing • protein catabolic process • ionotropic glutamate receptor signaling pathway • lysosomal lumen pH elevation • neurotransmitter metabolic process • amyloid precursor protein catabolic process • negative regulation of apoptosis • negative regulation of catalytic activity • negative regulation of neuron apoptosis • negative regulation of proteolysis • neuromuscular process controlling balance • cytosolic calcium ion homeostasis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1201	12752
Ensembl	ENSG00000188603	ENSMUSG00000030720
UniProt	Q13286	O35934
RefSeq (mRNA)	NM_000086.2	XM_993441
RefSeq (protein)	NP_000077.1	XP_998535
Location (UCSC)	Chr 16: 28.48 – 28.5 Mb	Chr 7: 126.36 – 126.37 Mb
PubMed search	[1]	[2]

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.^[1][2]

Function

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.^[2]

Clinical significance

Mutations in this gene are associated with Batten disease. This disease is also know as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.

Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs).

References

1. ^ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (Jun 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatr Res 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235. 
2. ^ ^{a b} "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1201. 

Further reading

• Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217. 
• Vesa J, Peltonen L (2003). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Curr. Mol. Med. 2 (5): 439–44. doi:10.2174/1566524023362311. PMID 12125809. 
• Phillips SN, Benedict JW, Weimer JM, Pearce DA (2005). "CLN3, the protein associated with batten disease: structure, function and localization". J. Neurosci. Res. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902. 
• "Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium". Cell 82 (6): 949–57. 1995. doi:10.1016/0092-8674(95)90274-0. PMID 7553855. 
• Taschner PE, de Vos N, Thompson AD et al. (1995). "Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)". Am. J. Hum. Genet. 56 (3): 663–8. PMC 1801154. PMID 7887420. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1801154. 
• Janes RW, Munroe PB, Mitchison HM et al. (1997). "A model for Batten disease protein CLN3: functional implications from homology and mutations". FEBS Lett. 399 (1–2): 75–7. doi:10.1016/S0014-5793(96)01290-2. PMID 8980123. 
• Järvelä I, Mitchison HM, Munroe PB et al. (1997). "Rapid diagnostic test for the major mutation underlying Batten disease". J. Med. Genet. 33 (12): 1041–2. doi:10.1136/jmg.33.12.1041. PMC 1050819. PMID 9004140. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050819. 
• Mitchison HM, Munroe PB, O'Rawe AM et al. (1997). "Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3". Genomics 40 (2): 346–50. doi:10.1006/geno.1996.4576. PMID 9119403. 
• Munroe PB, Mitchison HM, O'Rawe AM et al. (1997). "Spectrum of mutations in the Batten disease gene, CLN3". Am. J. Hum. Genet. 61 (2): 310–6. doi:10.1086/514846. PMC 1715900. PMID 9311735. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715900. 
• Järvelä I, Sainio M, Rantamäki T et al. (1998). "Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease". Hum. Mol. Genet. 7 (1): 85–90. doi:10.1093/hmg/7.1.85. PMID 9384607. 
• Wisniewski KE, Zhong N, Kaczmarski W et al. (1998). "Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis". Ann. Neurol. 43 (1): 106–10. doi:10.1002/ana.410430118. PMID 9450775. 
• Zhong N, Wisniewski KE, Kaczmarski AL et al. (1998). "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene". Hum. Genet. 102 (1): 57–62. doi:10.1007/s004390050654. PMID 9490299. 
• Kremmidiotis G, Lensink IL, Bilton RL et al. (1999). "The Batten disease gene product (CLN3p) is a Golgi integral membrane protein". Hum. Mol. Genet. 8 (3): 523–31. doi:10.1093/hmg/8.3.523. PMID 9949212. 
• Haskell RE, Derksen TA, Davidson BL (1999). "Intracellular trafficking of the JNCL protein CLN3". Mol. Genet. Metab. 66 (4): 253–60. doi:10.1006/mgme.1999.2802. PMID 10191111. 
• Kaczmarski W, Wisniewski KE, Golabek A et al. (1999). "Studies of membrane association of CLN3 protein". Mol. Genet. Metab. 66 (4): 261–4. doi:10.1006/mgme.1999.2833. PMID 10191112. 
• Golabek AA, Kaczmarski W, Kida E et al. (1999). "Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro". Mol. Genet. Metab. 66 (4): 277–82. doi:10.1006/mgme.1999.2836. PMID 10191115. 
• Margraf LR, Boriack RL, Routheut AA et al. (1999). "Tissue expression and subcellular localization of CLN3, the Batten disease protein". Mol. Genet. Metab. 66 (4): 283–9. doi:10.1006/mgme.1999.2830. PMID 10191116. 
• Järvelä I, Lehtovirta M, Tikkanen R et al. (1999). "Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)". Hum. Mol. Genet. 8 (6): 1091–8. doi:10.1093/hmg/8.6.1091. PMID 10332042. 
• Loftus BJ, Kim UJ, Sneddon VP et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829. 
• Pane MA, Puranam KL, Boustany RM (2004). "Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain". Pediatr. Res. 46 (4): 367–74. doi:10.1203/00006450-199910000-00003. PMID 10509355. 
• Phillips S, Benedict J, Weimer J, Pearce D (2005). "CLN3, the protein associated with batten disease: structure, function and localization". J Neurosci Res 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902. 

External links

• MeSH CLN3+protein,+human
• GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses