CLN5

For the Canadian airport code CLN5, see Astorville/Lake Nosbonsing Water Aerodrome.

CLN5
Identifiers
Aliases	CLN5 , NCL, ceroid-lipofuscinosis, neuronal 5, intracellular trafficking protein, CLN5 intracellular trafficking protein
External IDs	OMIM: 608102; MGI: 2442253; HomoloGene: 4738; GeneCards: CLN5; OMA:CLN5 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q22.3 Start 76,990,660 bp [1] End 77,019,143 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 E2.3|14 51.71 cM Start 103,307,652 bp [2] End 103,315,064 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left lobe of thyroid gland right lobe of thyroid gland pericardium renal medulla Achilles tendon olfactory zone of nasal mucosa islet of Langerhans popliteal artery tibial arteries gallbladder Top expressed in granulocyte decidua blood calvaria gastrula right kidney interventricular septum yolk sac genital tubercle endothelial cell of lymphatic vessel More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding mannose binding Cellular component perinuclear region of cytoplasm lysosomal membrane Golgi apparatus extracellular exosome endoplasmic reticulum lysosome cytosol membrane integral component of membrane Biological process glycosylation brain development lysosomal lumen acidification signal peptide processing protein catabolic process neuron maturation retrograde transport, endosome to Golgi positive regulation of GTP binding neurogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1203 211286 Ensembl ENSG00000102805 ENSMUSG00000022125 UniProt O75503 Q3UMW8 RefSeq (mRNA) NM_006493 NM_001366624 NM_001033242 RefSeq (protein) NP_006484 NP_001353553 NP_001028414 Location (UCSC) Chr 13: 76.99 – 77.02 Mb Chr 14: 103.31 – 103.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene. ^{[5] [6] [7]}

The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM] ^[7]

A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the University of Rochester, using vectors developed by the Hughes research lab in New Zealand. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000102805 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022125 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (Oct 1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet. 55 (4): 695–701. PMC   1918303 . PMID   7942847.
6. Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin K, Palotie A, Peltonen L (Sep 1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics. 35 (1): 71–8. doi: 10.1006/geno.1996.0324 . PMID   8661106.
7. "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5".
8. Biochemistry Do (2022-08-02). "Trial of world-first gene therapy for Batten disease". www.otago.ac.nz. Retrieved 2024-04-13.

Further reading

• Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5". Hum. Mutat. 14 (3): 199–215. doi: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A . PMID   10477428.
• 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.
• Vesa J, Peltonen L (2003). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Curr. Mol. Med. 2 (5): 439–44. doi:10.2174/1566524023362311. PMID   12125809.
• Mole SE (2004). "The genetic spectrum of human neuronal ceroid-lipofuscinoses". Brain Pathol. 14 (1): 70–6. doi:10.1111/j.1750-3639.2004.tb00500.x. PMC   8095883 . PMID   14997939.
• Carpenter S, Karpati G, Andermann F, et al. (1977). "The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease". Brain. 100 Pt 1: 137–56. doi:10.1093/brain/100.1.137. PMID   193610.
• Savukoski M, Klockars T, Holmberg V, et al. (1998). "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis". Nat. Genet. 19 (3): 286–8. doi:10.1038/975. PMID   9662406. S2CID   23745986.
• Heinonen O, Salonen T, Jalanko A, et al. (2000). "CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain". J. Comp. Neurol. 426 (3): 406–12. doi:10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5. PMID   10992246. S2CID   37672531.
• 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.
• Isosomppi J, Vesa J, Jalanko A, Peltonen L (2003). "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein". Hum. Mol. Genet. 11 (8): 885–91. doi: 10.1093/hmg/11.8.885 . PMID   11971870.
• Vesa J, Chin MH, Oelgeschläger K, et al. (2003). "Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3". Mol. Biol. Cell. 13 (7): 2410–20. doi:10.1091/mbc.E02-01-0031. PMC   117323 . PMID   12134079.
• Pineda-Trujillo N, Cornejo W, Carrizosa J, et al. (2005). "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset". Neurology. 64 (4): 740–2. doi:10.1212/01.WNL.0000151974.44980.F1. PMID   15728307. S2CID   43644394.
• Bessa C, Teixeira CA, Mangas M, et al. (2006). "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency". Mol. Genet. Metab. 89 (3): 245–53. doi:10.1016/j.ymgme.2006.04.010. PMID   16814585.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.
• Cannelli N, Nardocci N, Cassandrini D, et al. (2007). "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis". Neuropediatrics. 38 (1): 46–9. doi:10.1055/s-2007-981449. PMID   17607606. S2CID   260241788.

External links

• GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses
• Human CLN5 genome location and CLN5 gene details page in the UCSC Genome Browser .
• Human NCL genome location and NCL gene details page in the UCSC Genome Browser .