Battenin Explained

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.^{[1] [2]} Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter.^[3] In humans, it belongs to the atypical SLCs^[4] due to its structural and phylogenetic similarity to other SLC transporters.

Function

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

Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices, yet no crystal structure is available.

Clinical significance

Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.

References

Further reading

• Dawson G, Cho S . Batten's disease: clues to neuronal protein catabolism in lysosomes . Journal of Neuroscience Research . 60 . 2 . 133–40 . April 2000 . 10740217 . 10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 . 28786470 .
• Vesa J, Peltonen L . Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins . Current Molecular Medicine . 2 . 5 . 439–44 . August 2002 . 12125809 . 10.2174/1566524023362311 .
• Phillips SN, Benedict JW, Weimer JM, Pearce DA . CLN3, the protein associated with batten disease: structure, function and localization . Journal of Neuroscience Research . 79 . 5 . 573–83 . March 2005 . 15657902 . 10.1002/jnr.20367 . 7952760 .
• Lerner Terry J . Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium . Cell . 82 . 6 . 949–57 . September 1995 . 7553855 . 10.1016/0092-8674(95)90274-0 . 17286972 . free .
• Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH . Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) . American Journal of Human Genetics . 56 . 3 . 663–8 . March 1995 . 7887420 . 1801154 .
• Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA . A model for Batten disease protein CLN3: functional implications from homology and mutations . FEBS Letters . 399 . 1–2 . 75–7 . December 1996 . 8980123 . 10.1016/S0014-5793(96)01290-2 . 4952651 . free .
• Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC . Rapid diagnostic test for the major mutation underlying Batten disease . Journal of Medical Genetics . 33 . 12 . 1041–2 . December 1996 . 9004140 . 1050819 . 10.1136/jmg.33.12.1041 .
• Mitchison HM, Munroe PB, O'Rawe AM, Taschner PE, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE . Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 . Genomics . 40 . 2 . 346–50 . March 1997 . 9119403 . 10.1006/geno.1996.4576 .
• Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE . Spectrum of mutations in the Batten disease gene, CLN3 . American Journal of Human Genetics . 61 . 2 . 310–6 . August 1997 . 9311735 . 1715900 . 10.1086/514846 .
• Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A . Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease . Human Molecular Genetics . 7 . 1 . 85–90 . January 1998 . 9384607 . 10.1093/hmg/7.1.85 . free .
• Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM . Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis . Annals of Neurology . 43 . 1 . 106–10 . January 1998 . 9450775 . 10.1002/ana.410430118 . 41471357 .
• Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT . Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene . Human Genetics . 102 . 1 . 57–62 . January 1998 . 9490299 . 10.1007/s004390050654 . 27343676 .
• Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF . Grant Robert Sutherland . The Batten disease gene product (CLN3p) is a Golgi integral membrane protein . Human Molecular Genetics . 8 . 3 . 523–31 . March 1999 . 9949212 . 10.1093/hmg/8.3.523 . free .
• Haskell RE, Derksen TA, Davidson BL . Intracellular trafficking of the JNCL protein CLN3 . Molecular Genetics and Metabolism . 66 . 4 . 253–60 . April 1999 . 10191111 . 10.1006/mgme.1999.2802 .
• Kaczmarski W, Wisniewski KE, Golabek A, Kaczmarski A, Kida E, Michalewski M . Studies of membrane association of CLN3 protein . Molecular Genetics and Metabolism . 66 . 4 . 261–4 . April 1999 . 10191112 . 10.1006/mgme.1999.2833 .
• Golabek AA, Kaczmarski W, Kida E, Kaczmarski A, Michalewski MP, Wisniewski KE . Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro . Molecular Genetics and Metabolism . 66 . 4 . 277–82 . April 1999 . 10191115 . 10.1006/mgme.1999.2836 .
• Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ . Tissue expression and subcellular localization of CLN3, the Batten disease protein . Molecular Genetics and Metabolism . 66 . 4 . 283–9 . April 1999 . 10191116 . 10.1006/mgme.1999.2830 .
• Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A . Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) . Human Molecular Genetics . 8 . 6 . 1091–8 . June 1999 . 10332042 . 10.1093/hmg/8.6.1091 . free .
• Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD . Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q . Genomics . 60 . 3 . 295–308 . September 1999 . 10493829 . 10.1006/geno.1999.5927 .
• Pane MA, Puranam KL, Boustany RM . Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain . Pediatric Research . 46 . 4 . 367–74 . October 1999 . 10509355 . 10.1203/00006450-199910000-00003 . free .
• Phillips SN, Benedict JW, Weimer JM, Pearce DA . CLN3, the protein associated with batten disease: structure, function and localization . Journal of Neuroscience Research . 79 . 5 . 573–83 . March 2005 . 15657902 . 10.1002/jnr.20367 . 7952760 .

External links

• • GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses

Notes and References

1. Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM . CLN3p impacts galactosylceramide transport, raft morphology, and lipid content . Pediatric Research . 63 . 6 . 625–31 . June 2008 . 18317235 . 10.1203/PDR.0b013e31816fdc17 . free .
2. Web site: Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) .
3. Perland E, Fredriksson R . Classification Systems of Secondary Active Transporters . Trends in Pharmacological Sciences . 38 . 3 . 305–315 . March 2017 . 27939446 . 10.1016/j.tips.2016.11.008 .
4. Perland E, Bagchi S, Klaesson A, Fredriksson R . Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression . Open Biology . 7 . 9 . 170142 . September 2017 . 28878041 . 5627054 . 10.1098/rsob.170142 .