Summary: Ceroid-lipofuscinosis neuronal protein 5
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This is the Wikipedia entry entitled "CLN5". More...
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|, NCL, ceroid-lipofuscinosis, neuronal 5, intracellular trafficking protein|
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]
- GRCh38: Ensembl release 89: ENSG00000102805 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000022125 - Ensembl, May 2017
- "Human PubMed Reference:".
- "Mouse PubMed Reference:".
- 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 . PMID 7942847.
- 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. PMID 8661106. doi:10.1006/geno.1996.0324.
- "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5".
- 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.
- 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. PMID 10477428. doi:10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A.
- Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. PMID 10740217. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3.
- 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. PMID 12125809. doi:10.2174/1566524023362311.
- Mole SE (2004). "The genetic spectrum of human neuronal ceroid-lipofuscinoses". Brain Pathol. 14 (1): 70–6. PMID 14997939. doi:10.1111/j.1750-3639.2004.tb00500.x.
- 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. PMID 193610. doi:10.1093/brain/100.1.137.
- 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. PMID 9662406. doi:10.1038/975.
- 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. PMID 10992246. doi:10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5.
- Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001). "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)". Eur. J. Biochem. 268 (22): 5851–6. PMID 11722572. doi:10.1046/j.0014-2956.2001.02530.x.
- 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. PMID 11971870. doi:10.1093/hmg/11.8.885.
- 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. PMC . PMID 12134079. doi:10.1091/mbc.E02-01-0031.
- 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. PMID 15728307. doi:10.1212/01.WNL.0000151974.44980.F1.
- 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. PMID 16814585. doi:10.1016/j.ymgme.2006.04.010.
- 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. PMC . PMID 17353931. doi:10.1038/msb4100134.
- 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. PMID 17607606. doi:10.1055/s-2007-981449.
|This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.|
This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.
Ceroid-lipofuscinosis neuronal protein 5 Provide feedback
No Pfam abstract.
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L;, Nat Genet. 1998;19:286-288.: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. PUBMED:9662406 EPMC:9662406
Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I;, Biochim Biophys Acta. 2006;1762:890-897.: Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene. PUBMED:16935476 EPMC:16935476
Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN;, Neurobiol Dis. 2008;29:306-315.: A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3. PUBMED:17988881 EPMC:17988881
Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN;, Genomics. 2005;86:287-294.: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. PUBMED:16033706 EPMC:16033706
This tab holds annotation information from the InterPro database.
InterPro entry IPR026138This protein family consist of CLN5 and CLN5-like proteins. Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5), also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material [PUBMED:9662406, PUBMED:15728307, PUBMED:16814585, PUBMED:17607606, PUBMED:19309691, PUBMED:21990111, PUBMED:16935476, PUBMED:16033706].
The mapping between Pfam and Gene Ontology is provided by InterPro. If you use this data please cite InterPro.
|Cellular component||lysosome (GO:0005764)|
|Biological process||neurogenesis (GO:0022008)|
Below is a listing of the unique domain organisations or architectures in which this domain is found. More...
The graphic that is shown by default represents the longest sequence with a given architecture. Each row contains the following information:
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1Cannot generate PP/Heatmap alignments for seeds; no PP data available
Key: available, not generated, — not available.
Format an alignment
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This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.
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|Number in seed:||10|
|Number in full:||125|
|Average length of the domain:||267.20 aa|
|Average identity of full alignment:||66 %|
|Average coverage of the sequence by the domain:||85.95 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 26740544 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||5|
|Download:||download the raw HMM for this family|
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This visualisation provides a simple graphical representation of the distribution of this family across species. You can find the original interactive tree in the More....
This chart is a modified "sunburst" visualisation of the species tree for this family. It shows each node in the tree as a separate arc, arranged radially with the superkingdoms at the centre and the species arrayed around the outermost ring.
How the sunburst is generated
The tree is built by considering the taxonomic lineage of each sequence that has a match to this family. For each node in the resulting tree, we draw an arc in the sunburst. The radius of the arc, its distance from the root node at the centre of the sunburst, shows the taxonomic level ("superkingdom", "kingdom", etc). The length of the arc represents either the number of sequences represented at a given level, or the number of species that are found beneath the node in the tree. The weighting scheme can be changed using the sunburst controls.
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Some species in the taxonomic tree may not have one or more of the main eight levels that we display. For example, Bos taurus is not assigned an order in the NCBI taxonomic tree. In such cases we mark the omitted level with, for example, "No order", in both the tooltip and the lineage summary.
Unmapped species names
The tree is built by looking at each sequence in the full alignment for the family. We take the name of the species given by UniProt and try to map that to the full taxonomic tree from NCBI. In some cases, the name chosen by UniProt does not map to any node in the NCBI tree, perhaps because the chosen name is listed as a synonym or a misspelling in the NCBI taxonomy.
So that these nodes are not simply omitted from the sunburst tree, we group them together in a separate branch (or segment of the sunburst tree). Since we cannot determine the lineage for these unmapped species, we show all levels between the superkingdom and the species as "uncategorised".
Since we reduce the species tree to only the eight main taxonomic levels, sequences that are mapped to the sub-species level in the tree would not normally be shown. Rather than leave out these species, we map them instead to their parent species. So, for example, for sequences belonging to one of the Vibrio cholerae sub-species in the NCBI taxonomy, we show them instead as belonging to the species Vibrio cholerae.
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The tree shows the occurrence of this domain across different species. More...
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For all of the domain matches in a full alignment, we count the number that are found on all sequences in the alignment. This total is shown in the purple box.
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Finally, we group sequences from the same organism according to the NCBI code that is assigned by UniProt, allowing us to count the number of distinct sequences on which the domain is found. This value is shown in the pink boxes.
We use the NCBI species tree to group organisms according to their taxonomy and this forms the structure of the displayed tree. Note that in some cases the trees are too large (have too many nodes) to allow us to build an interactive tree, but in most cases you can still view the tree in a plain text, non-interactive representation. Those species which are represented in the seed alignment for this domain are highlighted.
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