| IED ID | IndEnz0002014326 |
| Enzyme Type ID | protease014326 |
| Protein Name |
Ceroid-lipofuscinosis neuronal protein 5 Protein CLN5 Cleaved into: Ceroid-lipofuscinosis neuronal protein 5, secreted form |
| Gene Name | CLN5 |
| Organism | Homo sapiens (Human) |
| Taxonomic Lineage | cellular organisms Eukaryota Opisthokonta Metazoa Eumetazoa Bilateria Deuterostomia Chordata Craniata Vertebrata Gnathostomata (jawed vertebrates) Teleostomi Euteleostomi Sarcopterygii Dipnotetrapodomorpha Tetrapoda Amniota Mammalia Theria Eutheria Boreoeutheria Euarchontoglires Primates Haplorrhini Simiiformes Catarrhini Hominoidea (apes) Hominidae (great apes) Homininae Homo Homo sapiens (Human) |
| Enzyme Sequence | MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL |
| Enzyme Length | 358 |
| Uniprot Accession Number | O75503 |
| Absorption | |
| Active Site | |
| Activity Regulation | |
| Binding Site | |
| Calcium Binding | |
| catalytic Activity | |
| DNA Binding | |
| EC Number | |
| Enzyme Function | FUNCTION: Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521). {ECO:0000269|PubMed:22431521}. |
| Temperature Dependency | |
| PH Dependency | |
| Pathway | |
| nucleotide Binding | |
| Features | Chain (2); Erroneous initiation (1); Glycosylation (8); Mutagenesis (8); Natural variant (16); Region (1); Sequence conflict (2); Topological domain (2); Transmembrane (1) |
| Keywords | Disease variant;Epilepsy;Glycoprotein;Lysosome;Membrane;Neurodegeneration;Neuronal ceroid lipofuscinosis;Reference proteome;Signal-anchor;Transmembrane;Transmembrane helix |
| Interact With | Q13286 |
| Induction | |
| Subcellular Location | SUBCELLULAR LOCATION: [Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome {ECO:0000269|PubMed:11971870, ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:22431521, ECO:0000269|PubMed:24038957, ECO:0000269|PubMed:24058541}.; SUBCELLULAR LOCATION: [Ceroid-lipofuscinosis neuronal protein 5]: Membrane {ECO:0000269|PubMed:24038957}; Single-pass type II membrane protein {ECO:0000269|PubMed:24038957}. Note=An amphipathic anchor region facilitates its association with the membrane. {ECO:0000269|PubMed:24038957}. |
| Modified Residue | |
| Post Translational Modification | PTM: N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes. {ECO:0000269|PubMed:11971870, ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:24038957, ECO:0000269|PubMed:24058541}.; PTM: [Ceroid-lipofuscinosis neuronal protein 5]: The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765). {ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:24038957}.; PTM: Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652). {ECO:0000269|PubMed:26342652}. |
| Signal Peptide | |
| Structure 3D | |
| Cross Reference PDB | - |
| Mapped Pubmed ID | 12125809; 12134079; 17353931; 19174516; 19201763; 19941651; 20157158; 20217867; 20467438; 20711500; 23160995; 23416715; 25359263; 27488642; 28542837; 30037983; 30078766; 30919163; 32302805; 32393339; 32487141; 33507209; 34680045; |
| Motif | |
| Gene Encoded By | |
| Mass | 41,497 |
| Kinetics | |
| Metal Binding | |
| Rhea ID | |
| Cross Reference Brenda |