CLN6: Difference between revisions

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'''Ceroid-lipofuscinosis neuronal protein 6''' is a [[protein]] that in humans is encoded by the ''CLN6'' [[gene]].<ref name="pmid9097964">{{cite journal | vauthors = Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE | title = Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 | journal = Hum Mol Genet | volume = 6 | issue = 4 | pages = 591–5 |date=Jul 1997 | pmid = 9097964 | pmc = | doi =10.1093/hmg/6.4.591 }}</ref><ref name="pmid11727201">{{cite journal | vauthors = Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE | title = The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein | journal = Am J Hum Genet | volume = 70 | issue = 2 | pages = 537–42 |date=Jan 2002 | pmid = 11727201 | pmc = 384927 | doi = 10.1086/338708 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54982| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
| HGNCid = 2077
| Symbol = CLN6
| AltSymbols =; FLJ20561; HsT18960
| OMIM = 606725
| ECnumber = 
| Homologene = 9898
| MGIid = 2159324
| GeneAtlas_image1 = PBB_GE_CLN6_218161_s_at_tn.png
| Function = {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005788 |text = endoplasmic reticulum lumen}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
  | Process = {{GNF_GO|id=GO:0001573 |text = ganglioside metabolic process}} {{GNF_GO|id=GO:0007042 |text = lysosomal lumen acidification}} {{GNF_GO|id=GO:0008203 |text = cholesterol metabolic process}} {{GNF_GO|id=GO:0030163 |text = protein catabolic process}} {{GNF_GO|id=GO:0030203 |text = glycosaminoglycan metabolic process}} {{GNF_GO|id=GO:0045862 |text = positive regulation of proteolysis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 54982
    | Hs_Ensembl = ENSG00000128973
    | Hs_RefseqProtein = NP_060352
    | Hs_RefseqmRNA = NM_017882
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 66286386
    | Hs_GenLoc_end = 66309102
    | Hs_Uniprot = Q9NWW5
    | Mm_EntrezGene = 76524
    | Mm_Ensembl = ENSMUSG00000032245
    | Mm_RefseqmRNA = NM_001033175
    | Mm_RefseqProtein = NP_001028347
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 62636793
    | Mm_GenLoc_end = 62650008
    | Mm_Uniprot = 
  }}
}}
'''Ceroid-lipofuscinosis, neuronal 6, late infantile, variant''', also known as '''CLN6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54982| accessdate = }}</ref>


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==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl  GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses]
* {{UCSC gene info|CLN6}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=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= }}
*{{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  | author=Sharp JD, Wheeler RB, Lake BD, ''et al.'' |title=Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 591-5 |year= 1997 |pmid= 9097964 |doi= }}
*{{Cite journal  | vauthors=Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I |title=Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). |journal=Eur. J. Biochem. |volume=268 |issue= 22 |pages= 5851–6 |year= 2001 |pmid= 11722572 |doi=10.1046/j.0014-2956.2001.02530.x }}
*{{cite journal  | author=Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I |title=Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). |journal=Eur. J. Biochem. |volume=268 |issue= 22 |pages= 5851-6 |year= 2001 |pmid= 11722572 |doi= }}
*{{Cite journal  | vauthors=Gao H, Boustany RM, Espinola JA |title=Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 324–35 |year= 2002 |pmid= 11791207 |doi=10.1086/338190 | pmc=384912  |display-authors=etal}}
*{{cite journal  | author=Wheeler RB, Sharp JD, Schultz RA, ''et al.'' |title=The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 537-42 |year= 2002 |pmid= 11727201 |doi= }}
*{{Cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Gao H, Boustany RM, Espinola JA, ''et al.'' |title=Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 324-35 |year= 2002 |pmid= 11791207 |doi=  }}
*{{Cite journal  | vauthors=Teixeira CA, Espinola J, Huo L |title=Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=21 |issue= 5 |pages= 502–8 |year= 2003 |pmid= 12673792 |doi= 10.1002/humu.10207 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{Cite journal  | vauthors=Sharp JD, Wheeler RB, Parker KA |title=Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=22 |issue= 1 |pages= 35–42 |year= 2003 |pmid= 12815591 |doi= 10.1002/humu.10227 |display-authors=etal}}
*{{cite journal  | author=Teixeira CA, Espinola J, Huo L, ''et al.'' |title=Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=21 |issue= 5 |pages= 502-8 |year= 2003 |pmid= 12673792 |doi= 10.1002/humu.10207 }}
*{{Cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Sharp JD, Wheeler RB, Parker KA, ''et al.'' |title=Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=22 |issue= 1 |pages= 35-42 |year= 2003 |pmid= 12815591 |doi= 10.1002/humu.10227 }}
*{{Cite journal  | vauthors=Heine C, Koch B, Storch S |title=Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. |journal=J. Biol. Chem. |volume=279 |issue= 21 |pages= 22347–52 |year= 2004 |pmid= 15010453 |doi= 10.1074/jbc.M400643200 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{Cite journal  | vauthors=Mole SE, Michaux G, Codlin S |title=CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. |journal=Exp. Cell Res. |volume=298 |issue= 2 |pages= 399–406 |year= 2004 |pmid= 15265688 |doi= 10.1016/j.yexcr.2004.04.042 |display-authors=etal}}
*{{cite journal  | author=Heine C, Koch B, Storch S, ''et al.'' |title=Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. |journal=J. Biol. Chem. |volume=279 |issue= 21 |pages= 22347-52 |year= 2004 |pmid= 15010453 |doi= 10.1074/jbc.M400643200 }}
*{{Cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Mole SE, Michaux G, Codlin S, ''et al.'' |title=CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. |journal=Exp. Cell Res. |volume=298 |issue= 2 |pages= 399-406 |year= 2004 |pmid= 15265688 |doi= 10.1016/j.yexcr.2004.04.042 }}
*{{Cite journal  | vauthors=Siintola E, Topcu M, Kohlschütter A |title=Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. |journal=Clin. Genet. |volume=68 |issue= 2 |pages= 167–73 |year= 2005 |pmid= 15996215 |doi= 10.1111/j.1399-0004.2005.00471.x |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{Cite journal  | vauthors=Otsuki T, Ota T, Nishikawa T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 |display-authors=etal}}
*{{cite journal  | author=Siintola E, Topcu M, Kohlschütter A, ''et al.'' |title=Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. |journal=Clin. Genet. |volume=68 |issue= 2 |pages= 167-73 |year= 2005 |pmid= 15996215 |doi= 10.1111/j.1399-0004.2005.00471.x }}
*{{Cite journal  | vauthors=Teixeira CA, Lin S, Mangas M |title=Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. |journal=Biochim. Biophys. Acta |volume=1762 |issue= 7 |pages= 637–46 |year= 2006 |pmid= 16857350 |doi= 10.1016/j.bbadis.2006.06.002 |display-authors=etal}}
*{{cite journal  | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{Cite journal  | vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |display-authors=etal}}
*{{cite journal  | author=Teixeira CA, Lin S, Mangas M, ''et al.'' |title=Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. |journal=Biochim. Biophys. Acta |volume=1762 |issue= 7 |pages= 637-46 |year= 2006 |pmid= 16857350 |doi= 10.1016/j.bbadis.2006.06.002 }}
*{{Cite journal  | vauthors=Heine C, Quitsch A, Storch S |title=Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. |journal=Mol. Membr. Biol. |volume=24 |issue= 1 |pages= 74–87 |year= 2007 |pmid= 17453415 |doi= 10.1080/09687860600967317 |display-authors=etal}}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal  | author=Heine C, Quitsch A, Storch S, ''et al.'' |title=Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. |journal=Mol. Membr. Biol. |volume=24 |issue= 1 |pages= 74-87 |year= 2007 |pmid= 17453415 |doi= 10.1080/09687860600967317 }}
}}
}}
{{refend}}
{{Refend}}
 
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{{Glycolipid/sphingolipid metabolism enzymes}}
 


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Latest revision as of 09:50, 30 August 2017

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

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[1][2][3]


References

  1. ↑ Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23". Hum Mol Genet. 6 (4): 591–5. doi:10.1093/hmg/6.4.591. PMID 9097964.
  2. ↑ Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein". Am J Hum Genet. 70 (2): 537–42. doi:10.1086/338708. PMC 384927. PMID 11727201.
  3. ↑ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".

External links

Further reading



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