CLN3: Difference between revisions

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{{About|the human gene||Cln3 (disambiguation)}}
{{About|the human gene||Cln3 (disambiguation)}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Battenin''' is a [[protein]] that in humans is encoded by the ''CLN3'' [[gene]] located on [[chromosome 16]].<ref name="pmid18317235">{{cite journal |vauthors=Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM | title = CLN3p impacts galactosylceramide transport, raft morphology, and lipid content | journal = Pediatr Res | volume = 63 | issue = 6 | pages = 625–31 |date=Jun 2008 | pmid = 18317235 | pmc =  | doi = 10.1203/PDR.0b013e31816fdc17 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1201| accessdate = }}</ref> Battenin is not clustered into any [[Pfam]] clan, but it is included in the [[Transporter Classification Database|TCDB]] suggesting that it is a transporter<ref name=":0">{{Cite journal|last=Perland|first=Emelie|last2=Fredriksson|first2=Robert|date=March 2017|title=Classification Systems of Secondary Active Transporters|url=https://www.ncbi.nlm.nih.gov/pubmed/27939446|journal=Trends in Pharmacological Sciences|volume=38|issue=3|pages=305–315|doi=10.1016/j.tips.2016.11.008|issn=1873-3735|pmid=27939446}}</ref>. In humans, it belongs to the [[Atypical SLCs|atypcial SLC]]<nowiki/>s<ref name=":0" /><ref name=":1">{{Cite journal|last=Perland|first=Emelie|last2=Bagchi|first2=Sonchita|last3=Klaesson|first3=Axel|last4=Fredriksson|first4=Robert|date=September 2017|title=Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression|url=https://www.ncbi.nlm.nih.gov/pubmed/28878041|journal=Open Biology|volume=7|issue=9|doi=10.1098/rsob.170142|issn=2046-2441|pmid=28878041}}</ref> due to its structurally and phylogenetically similarity to other [[Solute carrier family|SLC]] transporters.
'''Battenin''' is a [[protein]] that in humans is encoded by the ''CLN3'' [[gene]] located on [[chromosome 16]].<ref name="pmid18317235">{{cite journal | vauthors = Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM | title = CLN3p impacts galactosylceramide transport, raft morphology, and lipid content | journal = Pediatric Research | volume = 63 | issue = 6 | pages = 625–31 | date = June 2008 | pmid = 18317235 | pmc =  | doi = 10.1203/PDR.0b013e31816fdc17 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1201| access-date = }}</ref> Battenin is not clustered into any [[Pfam]] clan, but it is included in the [[Transporter Classification Database|TCDB]] suggesting that it is a transporter.<ref name=":0">{{cite journal | vauthors = Perland E, Fredriksson R | title = Classification Systems of Secondary Active Transporters | journal = Trends in Pharmacological Sciences | volume = 38 | issue = 3 | pages = 305–315 | date = March 2017 | pmid = 27939446 | doi = 10.1016/j.tips.2016.11.008 }}</ref> In humans, it belongs to the [[Atypical SLCs|atypical SLC]]<nowiki/>s<ref name=":0" /><ref name=":1">{{cite journal | vauthors = Perland E, Bagchi S, Klaesson A, Fredriksson R | title = Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression | journal = Open Biology | volume = 7 | issue = 9 | pages = 170142 | date = September 2017 | pmid = 28878041 | pmc = 5627054 | doi = 10.1098/rsob.170142 }}</ref> due to its structurally and phylogenetically similarity to other [[Solute carrier family|SLC]] transporters.


== Function ==
== Function ==
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Battenin is involved in [[lysosome|lysosomal]] function. Many alternatively spliced transcript variants have been found for this gene.<ref name="entrez" />
Battenin is involved in [[lysosome|lysosomal]] function. Many alternatively spliced transcript variants have been found for this gene.<ref name="entrez" />


Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices <ref name=":1" />, yet no crystal structure is available.
Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices,<ref name=":1" /> yet no crystal structure is available.


==Clinical significance==
==Clinical significance==
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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.
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==
== References ==
{{reflist}}
{{reflist}}
{{Clear}}
{{Clear}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes |journal=J. Neurosci. Res. |volume=60 |issue= 2 |pages= 133–40 |year= 2000 |pmid= 10740217 |doi=10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 }}
* {{cite journal | vauthors = Dawson G, Cho S | title = Batten's disease: clues to neuronal protein catabolism in lysosomes | journal = Journal of Neuroscience Research | volume = 60 | issue = 2 | pages = 133–40 | date = April 2000 | pmid = 10740217 | doi = 10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 }}
*{{cite journal |vauthors=Vesa J, Peltonen L |title=Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins |journal=Curr. Mol. Med. |volume=2 |issue= 5 |pages= 439–44 |year= 2003 |pmid= 12125809 |doi=10.2174/1566524023362311 }}
* {{cite journal | vauthors = Vesa J, Peltonen L | title = Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins | journal = Current Molecular Medicine | volume = 2 | issue = 5 | pages = 439–44 | date = August 2002 | pmid = 12125809 | doi = 10.2174/1566524023362311 }}
*{{cite journal |vauthors=Phillips SN, Benedict JW, Weimer JM, Pearce DA |title=CLN3, the protein associated with batten disease: structure, function and localization |journal=J. Neurosci. Res. |volume=79 |issue= 5 |pages= 573–83 |year= 2005 |pmid= 15657902 |doi= 10.1002/jnr.20367 }}
* {{cite journal | vauthors = Phillips SN, Benedict JW, Weimer JM, Pearce DA | title = CLN3, the protein associated with batten disease: structure, function and localization | journal = Journal of Neuroscience Research | volume = 79 | issue = 5 | pages = 573–83 | date = March 2005 | pmid = 15657902 | doi = 10.1002/jnr.20367 }}
*{{cite journal |title=Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium |journal=Cell |volume=82 |issue= 6 |pages= 949–57 |year= 1995 |pmid= 7553855 |doi= 10.1016/0092-8674(95)90274-0 }}
* {{cite journal | vauthors = Lerner Terry J | title = Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium | journal = Cell | volume = 82 | issue = 6 | pages = 949–57 | date = September 1995 | pmid = 7553855 | doi = 10.1016/0092-8674(95)90274-0 }}
*{{cite journal | author=Taschner PE |title=Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) |journal=Am. J. Hum. Genet. |volume=56 |issue= 3 |pages= 663–8 |year= 1995 |pmid= 7887420 |doi=  | pmc=1801154 |name-list-format=vanc| author2=de Vos N | author3=Thompson AD  | display-authors=3  | last4=Callen  | first4=DF  | last5=Doggett  | first5=N  | last6=Mole  | first6=SE  | last7=Dooley  | first7=TP  | last8=Barth  | first8=PG  | last9=Breuning  | first9=MH  }}
* {{cite journal | vauthors = Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH | title = Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) | journal = American Journal of Human Genetics | volume = 56 | issue = 3 | pages = 663–8 | date = March 1995 | pmid = 7887420 | pmc = 1801154 | doi =  }}
*{{cite journal  | author=Janes RW |title=A model for Batten disease protein CLN3: functional implications from homology and mutations |journal=FEBS Lett. |volume=399 |issue= 1–2 |pages= 75–7 |year= 1997 |pmid= 8980123 |doi=10.1016/S0014-5793(96)01290-2  |name-list-format=vanc| author2=Munroe PB | author3=Mitchison HM  | display-authors=3  | last4=Gardiner  | first4=RM  | last5=Mole  | first5=SE | last6=Wallace  | first6=BA  }}
* {{cite journal | vauthors = Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA | title = A model for Batten disease protein CLN3: functional implications from homology and mutations | journal = FEBS Letters | volume = 399 | issue = 1-2 | pages = 75–7 | date = December 1996 | pmid = 8980123 | doi = 10.1016/S0014-5793(96)01290-2 }}
*{{cite journal  | author=Järvelä I |title=Rapid diagnostic test for the major mutation underlying Batten disease |journal=J. Med. Genet. |volume=33 |issue= 12 |pages= 1041–2 |year= 1997 |pmid= 9004140 |doi=10.1136/jmg.33.12.1041  | pmc=1050819  |name-list-format=vanc| author2=Mitchison HM  | author3=Munroe PB  | display-authors=3  | last4=O'Rawe | first4=A M  | last5=Mole | first5=S E  | last6=Syvanen  | first6=A C  }}
* {{cite journal | vauthors = Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC | title = Rapid diagnostic test for the major mutation underlying Batten disease | journal = Journal of Medical Genetics | volume = 33 | issue = 12 | pages = 1041–2 | date = December 1996 | pmid = 9004140 | pmc = 1050819 | doi = 10.1136/jmg.33.12.1041 }}
*{{cite journal  | author=Mitchison HM |title=Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 |journal=Genomics |volume=40 |issue= 2 |pages= 346–50 |year= 1997 |pmid= 9119403 |doi= 10.1006/geno.1996.4576  |name-list-format=vanc| author2=Munroe PB  | author3=O'Rawe AM  | display-authors=3  | last4=Taschner  | first4=PE  | last5=De Vos  | first5=N  | last6=Kremmidiotis  | first6=G  | last7=Lensink  | first7=I  | last8=Munk  | first8=AC  | last9=d'Arigo  | first9=KL }}
* {{cite journal | vauthors = 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 | title = Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 | journal = Genomics | volume = 40 | issue = 2 | pages = 346–50 | date = March 1997 | pmid = 9119403 | doi = 10.1006/geno.1996.4576 }}
*{{cite journal | author=Munroe PB |title=Spectrum of mutations in the Batten disease gene, CLN3 |journal=Am. J. Hum. Genet. |volume=61 |issue= 2 |pages= 310–6 |year= 1997 |pmid= 9311735 |doi=10.1086/514846  | pmc=1715900  |name-list-format=vanc| author2=Mitchison HM  | author3=O'Rawe AM  | display-authors=3  | last4=Anderson  | first4=John W.  | last5=Boustany  | first5=Rose-Mary  | last6=Lerner  | first6=Terry J. | last7=Taschner  | first7=Peter E.M. | last8=Vos  | first8=Nanneke de  | last9=Breuning  | first9=Martijn H. }}
* {{cite journal | vauthors = Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE | title = Spectrum of mutations in the Batten disease gene, CLN3 | journal = American Journal of Human Genetics | volume = 61 | issue = 2 | pages = 310–6 | date = August 1997 | pmid = 9311735 | pmc = 1715900 | doi = 10.1086/514846 }}
*{{cite journal | author=Järvelä I |title=Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 85–90 |year= 1998 |pmid= 9384607 |doi=10.1093/hmg/7.1.85  |name-list-format=vanc| author2=Sainio M  | author3=Rantamäki T  | display-authors=3  | last4=Olkkonen  | first4=VM  | last5=Carpén  | first5=O  | last6=Peltonen  | first6=L  | last7=Jalanko  | first7=A  }}
* {{cite journal | vauthors = Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A | title = Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease | journal = Human Molecular Genetics | volume = 7 | issue = 1 | pages = 85–90 | date = January 1998 | pmid = 9384607 | doi = 10.1093/hmg/7.1.85 }}
*{{cite journal | author=Wisniewski KE |title=Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis |journal=Ann. Neurol. |volume=43 |issue= 1 |pages= 106–10 |year= 1998 |pmid= 9450775 |doi= 10.1002/ana.410430118  |name-list-format=vanc| author2=Zhong N  | author3=Kaczmarski W  | display-authors=3  | last4=Kaczmarski  | first4=A.  | last5=Kida  | first5=E.  | last6=Brown  | first6=W. T. | last7=Schwarz  | first7=K. O.  | last8=Lazzarini  | first8=A. M.  | last9=Rubin  | first9=A. J. }}
* {{cite journal | vauthors = Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM | title = Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis | journal = Annals of Neurology | volume = 43 | issue = 1 | pages = 106–10 | date = January 1998 | pmid = 9450775 | doi = 10.1002/ana.410430118 }}
*{{cite journal  | author=Zhong N |title=Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene |journal=Hum. Genet. |volume=102 |issue= 1 |pages= 57–62 |year= 1998 |pmid= 9490299 |doi=10.1007/s004390050654  |name-list-format=vanc| author2=Wisniewski KE  | author3=Kaczmarski AL  | display-authors=3  | last4=Ju  | first4=Weina  | last5=Xu  | first5=Wei Min  | last6=Xu  | first6=William W.  | last7=McLendon  | first7=Lucilla  | last8=Liu  | first8=B.  | last9=Kaczmarski  | first9=Wojciech  }}
* {{cite journal | vauthors = Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT | title = Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene | journal = Human Genetics | volume = 102 | issue = 1 | pages = 57–62 | date = January 1998 | pmid = 9490299 | doi = 10.1007/s004390050654 }}
*{{cite journal  | author=Kremmidiotis G |title=The Batten disease gene product (CLN3p) is a Golgi integral membrane protein |journal=Hum. Mol. Genet. |volume=8 |issue= 3 |pages= 523–31 |year= 1999 |pmid= 9949212 |doi=10.1093/hmg/8.3.523  |name-list-format=vanc| author2=Lensink IL  | author3=Bilton RL  | display-authors=3  | last4=Woollatt  | first4=E  | last5=Chataway  | first5=TK  | last6=Sutherland  | first6=GR  | last7=Callen  | first7=DF  }}
* {{cite journal | vauthors = Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF | title = The Batten disease gene product (CLN3p) is a Golgi integral membrane protein | journal = Human Molecular Genetics | volume = 8 | issue = 3 | pages = 523–31 | date = March 1999 | pmid = 9949212 | doi = 10.1093/hmg/8.3.523 }}
*{{cite journal  |vauthors=Haskell RE, Derksen TA, Davidson BL |title=Intracellular trafficking of the JNCL protein CLN3 |journal=Mol. Genet. Metab. |volume=66 |issue= 4 |pages= 253–60 |year= 1999 |pmid= 10191111 |doi= 10.1006/mgme.1999.2802 }}
* {{cite journal | vauthors = Haskell RE, Derksen TA, Davidson BL | title = Intracellular trafficking of the JNCL protein CLN3 | journal = Molecular Genetics and Metabolism | volume = 66 | issue = 4 | pages = 253–60 | date = April 1999 | pmid = 10191111 | doi = 10.1006/mgme.1999.2802 }}
*{{cite journal  | author=Kaczmarski W |title=Studies of membrane association of CLN3 protein |journal=Mol. Genet. Metab. |volume=66 |issue= 4 |pages= 261–4 |year= 1999 |pmid= 10191112 |doi= 10.1006/mgme.1999.2833  |name-list-format=vanc| author2=Wisniewski KE  | author3=Golabek A  | display-authors=3  | last4=Kaczmarski  | first4=A  | last5=Kida  | first5=E  | last6=Michalewski  | first6=M }}
* {{cite journal | vauthors = Kaczmarski W, Wisniewski KE, Golabek A, Kaczmarski A, Kida E, Michalewski M | title = Studies of membrane association of CLN3 protein | journal = Molecular Genetics and Metabolism | volume = 66 | issue = 4 | pages = 261–4 | date = April 1999 | pmid = 10191112 | doi = 10.1006/mgme.1999.2833 }}
*{{cite journal  | author=Golabek AA |title=Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro |journal=Mol. Genet. Metab. |volume=66 |issue= 4 |pages= 277–82 |year= 1999 |pmid= 10191115 |doi= 10.1006/mgme.1999.2836  |name-list-format=vanc| author2=Kaczmarski W  | author3=Kida E  | display-authors=3  | last4=Kaczmarski  | first4=A  | last5=Michalewski  | first5=MP  | last6=Wisniewski  | first6=KE }}
* {{cite journal | vauthors = Golabek AA, Kaczmarski W, Kida E, Kaczmarski A, Michalewski MP, Wisniewski KE | title = Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro | journal = Molecular Genetics and Metabolism | volume = 66 | issue = 4 | pages = 277–82 | date = April 1999 | pmid = 10191115 | doi = 10.1006/mgme.1999.2836 }}
*{{cite journal  | author=Margraf LR |title=Tissue expression and subcellular localization of CLN3, the Batten disease protein |journal=Mol. Genet. Metab. |volume=66 |issue= 4 |pages= 283–9 |year= 1999 |pmid= 10191116 |doi= 10.1006/mgme.1999.2830  |name-list-format=vanc| author2=Boriack RL  | author3=Routheut AA  | display-authors=3  | last4=Cuppen  | first4=I  | last5=Alhilali  | first5=L  | last6=Bennett  | first6=CJ  | last7=Bennett  | first7=MJ }}
* {{cite journal | vauthors = Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ | title = Tissue expression and subcellular localization of CLN3, the Batten disease protein | journal = Molecular Genetics and Metabolism | volume = 66 | issue = 4 | pages = 283–9 | date = April 1999 | pmid = 10191116 | doi = 10.1006/mgme.1999.2830 }}
*{{cite journal  | author=Järvelä I |title=Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 1091–8 |year= 1999 |pmid= 10332042 |doi=10.1093/hmg/8.6.1091  |name-list-format=vanc| author2=Lehtovirta M  | author3=Tikkanen R  | display-authors=3  | last4=Kyttälä  | first4=A  | last5=Jalanko  | first5=A  }}
* {{cite journal | vauthors = Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A | title = Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) | journal = Human Molecular Genetics | volume = 8 | issue = 6 | pages = 1091–8 | date = June 1999 | pmid = 10332042 | doi = 10.1093/hmg/8.6.1091 }}
*{{cite journal  | author=Loftus BJ |title=Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q |journal=Genomics |volume=60 |issue= 3 |pages= 295–308 |year= 1999 |pmid= 10493829 |doi= 10.1006/geno.1999.5927  |name-list-format=vanc| author2=Kim UJ  | author3=Sneddon VP  | display-authors=3  | last4=Kalush  | first4=F  | last5=Brandon  | first5=R  | last6=Fuhrmann  | first6=J  | last7=Mason  | first7=T  | last8=Crosby  | first8=ML  | last9=Barnstead  | first9=M }}
* {{cite journal | vauthors = 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 | title = Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q | journal = Genomics | volume = 60 | issue = 3 | pages = 295–308 | date = September 1999 | pmid = 10493829 | doi = 10.1006/geno.1999.5927 }}
*{{cite journal  |vauthors=Pane MA, Puranam KL, Boustany RM |title=Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain |journal=Pediatr. Res. |volume=46 |issue= 4 |pages= 367–74 |year= 2004 |pmid= 10509355 |doi=10.1203/00006450-199910000-00003  }}
* {{cite journal | vauthors = Pane MA, Puranam KL, Boustany RM | title = Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain | journal = Pediatric Research | volume = 46 | issue = 4 | pages = 367–74 | date = October 1999 | pmid = 10509355 | doi = 10.1203/00006450-199910000-00003 }}
* {{cite journal |vauthors=Phillips S, Benedict J, Weimer J, Pearce D | title = CLN3, the protein associated with batten disease: structure, function and localization | journal = J Neurosci Res | volume = 79 | issue = 5 | pages = 573–83 | year = 2005 | pmid = 15657902 | doi = 10.1002/jnr.20367}}
* {{cite journal | vauthors = Phillips SN, Benedict JW, Weimer JM, Pearce DA | title = CLN3, the protein associated with batten disease: structure, function and localization | journal = Journal of Neuroscience Research | volume = 79 | issue = 5 | pages = 573–83 | date = March 2005 | pmid = 15657902 | doi = 10.1002/jnr.20367 }}
{{refend}}
{{refend}}


==External links==
== External links ==
* {{MeshName|CLN3+protein,+human}}
* {{MeshName|CLN3+protein,+human}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl  GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl  GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses]
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{{Glycolipid/sphingolipid metabolism enzymes}}
{{Glycolipid/sphingolipid metabolism enzymes}}
{{gene-16-stub}}

Revision as of 05:52, 19 May 2018

This article is about the human gene. For other uses, see Cln3 (disambiguation).
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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[3][4] due to its structurally and phylogenetically similarity to other SLC transporters.

Function

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

Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices,[4] 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

  1. ↑ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.
  2. ↑ 2.0 2.1 "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".
  3. ↑ 3.0 3.1 Perland E, Fredriksson R (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. PMID 27939446.
  4. ↑ 4.0 4.1 Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "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. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

Further reading

  • Dawson G, Cho S (April 2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". Journal of Neuroscience Research. 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 (August 2002). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Current Molecular Medicine. 2 (5): 439–44. doi:10.2174/1566524023362311. PMID 12125809.
  • Phillips SN, Benedict JW, Weimer JM, Pearce DA (March 2005). "CLN3, the protein associated with batten disease: structure, function and localization". Journal of Neuroscience Research. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902.
  • Lerner Terry J (September 1995). "Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium". Cell. 82 (6): 949–57. doi:10.1016/0092-8674(95)90274-0. PMID 7553855.
  • Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH (March 1995). "Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)". American Journal of Human Genetics. 56 (3): 663–8. PMC 1801154. PMID 7887420.
  • Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA (December 1996). "A model for Batten disease protein CLN3: functional implications from homology and mutations". FEBS Letters. 399 (1–2): 75–7. doi:10.1016/S0014-5793(96)01290-2. PMID 8980123.
  • Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC (December 1996). "Rapid diagnostic test for the major mutation underlying Batten disease". Journal of Medical Genetics. 33 (12): 1041–2. doi:10.1136/jmg.33.12.1041. PMC 1050819. PMID 9004140.
  • 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 (March 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, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE (August 1997). "Spectrum of mutations in the Batten disease gene, CLN3". American Journal of Human Genetics. 61 (2): 310–6. doi:10.1086/514846. PMC 1715900. PMID 9311735.
  • Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A (January 1998). "Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease". Human Molecular Genetics. 7 (1): 85–90. doi:10.1093/hmg/7.1.85. PMID 9384607.
  • Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM (January 1998). "Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis". Annals of Neurology. 43 (1): 106–10. doi:10.1002/ana.410430118. PMID 9450775.
  • Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT (January 1998). "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene". Human Genetics. 102 (1): 57–62. doi:10.1007/s004390050654. PMID 9490299.
  • Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF (March 1999). "The Batten disease gene product (CLN3p) is a Golgi integral membrane protein". Human Molecular Genetics. 8 (3): 523–31. doi:10.1093/hmg/8.3.523. PMID 9949212.
  • Haskell RE, Derksen TA, Davidson BL (April 1999). "Intracellular trafficking of the JNCL protein CLN3". Molecular Genetics and Metabolism. 66 (4): 253–60. doi:10.1006/mgme.1999.2802. PMID 10191111.
  • Kaczmarski W, Wisniewski KE, Golabek A, Kaczmarski A, Kida E, Michalewski M (April 1999). "Studies of membrane association of CLN3 protein". Molecular Genetics and Metabolism. 66 (4): 261–4. doi:10.1006/mgme.1999.2833. PMID 10191112.
  • Golabek AA, Kaczmarski W, Kida E, Kaczmarski A, Michalewski MP, Wisniewski KE (April 1999). "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. doi:10.1006/mgme.1999.2836. PMID 10191115.
  • Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ (April 1999). "Tissue expression and subcellular localization of CLN3, the Batten disease protein". Molecular Genetics and Metabolism. 66 (4): 283–9. doi:10.1006/mgme.1999.2830. PMID 10191116.
  • Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A (June 1999). "Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)". Human Molecular Genetics. 8 (6): 1091–8. doi:10.1093/hmg/8.6.1091. PMID 10332042.
  • 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 (September 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 (October 1999). "Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain". Pediatric Research. 46 (4): 367–74. doi:10.1203/00006450-199910000-00003. PMID 10509355.
  • Phillips SN, Benedict JW, Weimer JM, Pearce DA (March 2005). "CLN3, the protein associated with batten disease: structure, function and localization". Journal of Neuroscience Research. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902.

External links

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