CLN6

CLN6
Identifiers
Aliases	CLN6 , CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A
External IDs	OMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs
Gene location (Mouse) Chr. Chromosome 9 (mouse) [1] Band 9 B|9 33.89 cM Start 62,746,067 bp [1] End 62,759,288 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte bone marrow bone marrow cell rectum renal cortex placenta kidney islet of Langerhans blood appendix Top expressed in yolk sac islet of Langerhans spermatocyte lip seminiferous tubule muscle of thigh proximal tubule right kidney corneal stroma neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity Cellular component integral component of membrane endoplasmic reticulum lumen endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process glycosaminoglycan metabolic process cellular macromolecule catabolic process lysosomal lumen acidification ganglioside metabolic process cholesterol metabolic process protein catabolic process locomotion involved in locomotory behavior lysosome organization visual perception positive regulation of proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54982 76524 Ensembl n/a ENSMUSG00000032245 UniProt Q9NWW5 n/a RefSeq (mRNA) NM_017882 NM_001033175 RefSeq (protein) NP_060352 n/a Location (UCSC) n/a Chr 9: 62.75 – 62.76 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. ^{[4] [5] [6]}

The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), which recruits lysosomal enzymes at the endoplasmic reticulum to promote their transfer to the Golgi complex. ^[7] The EGRESS complex is composed of CLN6 and CLN8 proteins. ^[7] Loss-of-function mutations in CLN6 result in inefficient export of lysosomal enzymes from the endoplasmic reticulum and diminished levels of the enzymes at the lysosome. ^[7]

See also

• Batten disease

References

1. GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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.
6. "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".
7. Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer". J Clin Invest. 130 (8) 10.1172/JCI130955: 4118–4132. doi: 10.1172/JCI130955 . PMC   7410054 . PMID   32597833.

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. S2CID   28786470.
• Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001). "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)". Eur. J. Biochem. 268 (22): 5851–6. doi: 10.1046/j.0014-2956.2001.02530.x . PMID   11722572.
• Gao H, Boustany RM, Espinola JA, et al. (2002). "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse". Am. J. Hum. Genet. 70 (2): 324–35. doi:10.1086/338190. PMC   384912 . PMID   11791207.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Teixeira CA, Espinola J, Huo L, et al. (2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 21 (5): 502–8. doi:10.1002/humu.10207. PMID   12673792. S2CID   27128687.
• Sharp JD, Wheeler RB, Parker KA, et al. (2003). "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 22 (1): 35–42. doi: 10.1002/humu.10227 . PMID   12815591. S2CID   25698616.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Heine C, Koch B, Storch S, et al. (2004). "Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A." J. Biol. Chem. 279 (21): 22347–52. doi: 10.1074/jbc.M400643200 . PMID   15010453.
• Mole SE, Michaux G, Codlin S, et al. (2004). "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein". Exp. Cell Res. 298 (2): 399–406. doi:10.1016/j.yexcr.2004.04.042. PMID   15265688.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Siintola E, Topcu M, Kohlschütter A, et al. (2005). "Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin". Clin. Genet. 68 (2): 167–73. doi:10.1111/j.1399-0004.2005.00471.x. PMID   15996215. S2CID   40168289.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Teixeira CA, Lin S, Mangas M, et al. (2006). "Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology". Biochim. Biophys. Acta. 1762 (7): 637–46. doi: 10.1016/j.bbadis.2006.06.002 . PMID   16857350.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983.
• Heine C, Quitsch A, Storch S, et al. (2007). "Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6". Mol. Membr. Biol. 24 (1): 74–87. doi:10.1080/09687860600967317. PMID   17453415. S2CID   35490146.

External links

• GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
• Human CLN6 genome location and CLN6 gene details page in the UCSC Genome Browser .