CLN3

2017-10-24T16:00:04Z

144.32.150.244: /* Function */

{{About|the human gene||Cln3 (disambiguation)}}
{{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.

== Function ==

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.

==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==
{{reflist}}
{{Clear}}

==Further reading==
{{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=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=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 |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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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=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 | 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 | 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 | 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 | 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 | 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=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=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}}
{{refend}}

==External links==
* {{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]
* {{UCSC gene info|CLN3}}

{{Glycolipid/sphingolipid metabolism enzymes}}

{{gene-16-stub}}

wikidoc - User contributions [en]

CLN3