Reviewed,
UniProtKB/Swiss-Prot O75503 (CLN5_HUMAN)
Last modified
November 25, 2008.
Version 63.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Ceroid-lipofuscinosis neuronal protein 5 Short name=Protein CLN5 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 358 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | |
| Tissue specificity | Ubiquitous. |
| Post-translational modification | Glycosylated. |
| Involvement in disease | Defects in CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures. |
| Sequence similarities | Belongs to the CLN5 family. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Lysosome |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Epilepsy Neuronal ceroid lipofuscinosis |
| Domain | Signal |
| PTM | Glycoprotein |
Gene Ontology (GO) | |
| Biological process | brain development Inferred from expression pattern. Source: UniProtKB lysosomal lumen acidificationInferred from mutant phenotype. Source: UniProtKB neuron maturationNon-traceable author statement. Source: UniProtKB protein catabolic processNon-traceable author statement. Source: UniProtKB |
| Cellular component | Golgi apparatus Inferred from direct assay. Source: UniProtKB endoplasmic reticulumInferred from direct assay. Source: UniProtKB integral to membrane Ref.1Inferred from direct assay. Source: UniProtKB lysosomal membraneInferred from direct assay. Source: UniProtKB perinuclear region of cytoplasmInferred from direct assay. Source: UniProtKB |
| Molecular function | protein binding Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 46 | 46 | Potential | ||||||
| Chain | 47 – 358 | 312 | Ceroid-lipofuscinosis neuronal protein 5 | PRO_0000089860 | |||||
Amino acid modifications | |||||||||
| Glycosylation | 130 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 143 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 178 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 203 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 255 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 271 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 281 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 352 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 63 | 1 | R → H in CLN5. | VAR_042700 | |||||
| Natural variant | 63 | 1 | R → P in CLN5. | VAR_042702 | |||||
| Natural variant | 209 | 1 | Y → D in CLN5. | VAR_042701 | |||||
| Natural variant | 230 | 1 | D → N in CLN5. | VAR_005137 | |||||
| Natural variant | 319 | 1 | K → R: dbSNP rs1800209. | VAR_005138 | |||||
Sequences
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References
| [1] | "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis." Savukoski M., Klockars T., Holmberg V., Santavuori P., Lander E.S., Peltonen L. Nat. Genet. 19:286-288(1998) [PubMed: 9662406] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN5 ASN-230, VARIANT ARG-319. Tissue: Fetal brain. |
| [2] | "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein." Isosomppi J., Vesa J., Jalanko A., Peltonen L. Hum. Mol. Genet. 11:885-891(2002) [PubMed: 11971870] [Abstract] Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION. |
| [3] | "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset." Pineda-Trujillo N., Cornejo W., Carrizosa J., Wheeler R.B., Munera S., Valencia A., Agudelo-Arango J., Cogollo A., Anderson G., Bedoya G., Mole S.E., Ruiz-Linares A. Neurology 64:740-742(2005) [PubMed: 15728307] [Abstract] Cited for: VARIANT CLN5 HIS-63. |
| [4] | "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency." Bessa C., Teixeira C.A., Mangas M., Dias A., Sa Miranda M.C., Guimaraes A., Ferreira J.C., Canas N., Cabral P., Ribeiro M.G. Mol. Genet. Metab. 89:245-253(2006) [PubMed: 16814585] [Abstract] Cited for: VARIANTS CLN5 PRO-63 AND ASN-230. |
| [5] | "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis." Cannelli N., Nardocci N., Cassandrini D., Morbin M., Aiello C., Bugiani M., Criscuolo L., Zara F., Striano P., Granata T., Bertini E., Simonati A., Santorelli F.M. Neuropediatrics 38:46-49(2007) [PubMed: 17607606] [Abstract] Cited for: VARIANT CLN5 ASP-209. |
Cross-references
Sequence databases | |
|---|---|
| AF068227 mRNA. Translation: AAC27614.1. Different initiation. | |
| UniGene | Hs.30213 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O75503. |
Proteomic databases | |
| PeptideAtlas | O75503. |
Genome annotation databases | |
| Ensembl | ENSG00000102805. Homo sapiens. [Contig view] |
| KEGG | hsa:1203. |
Organism-specific databases | |
| H-InvDB | HIX0037301. |
| HGNC | HGNC:2076. CLN5. |
| MIM | 256731. phenotype. 608102. gene. |
| Orphanet | 216. Ceroid lipofuscinosis, neuronal. 79266. Late infantile neuronal ceroid lipofuscinosis, finnish variant (CLN5). |
| PharmGKB | PA26603. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | O75503. |
| HOVERGEN | O75503. |
Gene expression databases | |
| ArrayExpress | O75503. |
| CleanEx | HS_CLN5. |
| GermOnline | ENSG00000102805. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 4967. |
| SOURCE | Search... |
Entry information
| Entry name | CLN5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75503 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


