UniProtKB - O75503 (CLN5_HUMAN)
Ceroid-lipofuscinosis neuronal protein 5
CLN5
Functioni
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).
1 PublicationGO - Molecular functioni
- hydrolase activity, acting on glycosyl bonds Source: GO_Central
- mannose binding Source: UniProtKB
GO - Biological processi
- brain development Source: UniProtKB
- glycosylation Source: UniProtKB
- lysosomal lumen acidification Source: UniProtKB
- lysosome organization Source: GO_Central
- neurogenesis Source: UniProtKB
- neuron maturation Source: UniProtKB
- positive regulation of GTP binding Source: UniProtKB
- protein catabolic process Source: UniProtKB
- retrograde transport, endosome to Golgi Source: UniProtKB
- signal peptide processing Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | O75503 |
SignaLinki | O75503 |
Names & Taxonomyi
Protein namesi | Recommended name: Ceroid-lipofuscinosis neuronal protein 5Short name: Protein CLN5 Cleaved into the following chain: |
Gene namesi | Name:CLN5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2076, CLN5 |
MIMi | 608102, gene |
neXtProti | NX_O75503 |
VEuPathDBi | HostDB:ENSG00000102805 |
Subcellular locationi
Lysosome
- Lysosome 5 Publications
Other locations
- Membrane 1 Publication; Single-pass type II membrane protein 1 Publication
Note: An amphipathic anchor region facilitates its association with the membrane.1 Publication
Cytosol
- cytosol Source: GOC
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
- lysosome Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 23 | Cytoplasmic1 PublicationAdd BLAST | 23 | |
Transmembranei | 24 – 41 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 18 | |
Topological domaini | 42 – 358 | Lumenal1 PublicationAdd BLAST | 317 |
Keywords - Cellular componenti
Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Ceroid lipofuscinosis, neuronal, 5 (CLN5)10 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042700 | 63 | R → H in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs104894386EnsemblClinVar. | 1 | |
Natural variantiVAR_042702 | 63 | R → P in CLN5; Retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104894386EnsemblClinVar. | 1 | |
Natural variantiVAR_066896 | 77 | C → Y in CLN5. 1 PublicationCorresponds to variant dbSNP:rs267606738EnsemblClinVar. | 1 | |
Natural variantiVAR_066897 | 143 | N → S in CLN5; loss of glycosylation; effectively transported to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs386833975EnsemblClinVar. | 1 | |
Natural variantiVAR_066898 | 149 | L → P in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833976EnsemblClinVar. | 1 | |
Natural variantiVAR_066899 | 156 | P → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833977EnsemblClinVar. | 1 | |
Natural variantiVAR_066900 | 158 | W → R in CLN5. 1 PublicationCorresponds to variant dbSNP:rs147065248Ensembl. | 1 | |
Natural variantiVAR_066901 | 158 | W → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833978EnsemblClinVar. | 1 | |
Natural variantiVAR_042701 | 209 | Y → D in CLN5. 2 PublicationsCorresponds to variant dbSNP:rs386833981EnsemblClinVar. | 1 | |
Natural variantiVAR_005137 | 230 | D → N in CLN5; creates a new N-glycosylation site; retained in the endoplasmic reticulum rather than reaching the lysosome. 6 PublicationsCorresponds to variant dbSNP:rs28940280EnsemblClinVar. | 1 | |
Natural variantiVAR_066903 | 325 | Y → C in CLN5. 1 PublicationCorresponds to variant dbSNP:rs148862100EnsemblClinVar. | 1 | |
Natural variantiVAR_059032 | 330 | W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 PublicationCorresponds to variant dbSNP:rs386833968EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 130 | N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication | 1 | |
Mutagenesisi | 143 | N → Q: Loss of glycosylation. Effectively transported to the lysosome. 1 Publication | 1 | |
Mutagenesisi | 178 | N → Q: Loss of glycosylation. Effectively transported to the lysosome. 1 Publication | 1 | |
Mutagenesisi | 203 | N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication | 1 | |
Mutagenesisi | 255 | N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication | 1 | |
Mutagenesisi | 271 | N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication | 1 | |
Mutagenesisi | 281 | N → Q: Loss of glycosylation. Partially retained in the endoplasmic reticulum. 1 Publication | 1 | |
Mutagenesisi | 352 | N → Q: Loss of glycosylation. Retained in the Golgi apparatus rather than reaching the lysosome. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosisOrganism-specific databases
DisGeNETi | 1203 |
MalaCardsi | CLN5 |
MIMi | 256731, phenotype |
OpenTargetsi | ENSG00000102805 |
Orphaneti | 228360, CLN5 disease |
PharmGKBi | PA26603 |
Miscellaneous databases
Pharosi | O75503, Tbio |
Genetic variation databases
BioMutai | CLN5 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089860 | 1 – 358 | Ceroid-lipofuscinosis neuronal protein 5Add BLAST | 358 | |
ChainiPRO_0000438009 | ? – 358 | Ceroid-lipofuscinosis neuronal protein 5, secreted form |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 130 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 143 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 178 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 203 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 255 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 271 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 281 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 352 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | O75503 |
jPOSTi | O75503 |
MassIVEi | O75503 |
MaxQBi | O75503 |
PaxDbi | O75503 |
PeptideAtlasi | O75503 |
PRIDEi | O75503 |
ProteomicsDBi | 50054 |
PTM databases
GlyConnecti | 1108, 17 N-Linked glycans (4 sites) |
GlyGeni | O75503, 8 sites, 16 N-linked glycans (4 sites) |
iPTMneti | O75503 |
PhosphoSitePlusi | O75503 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000102805, Expressed in thyroid gland and 238 other tissues |
ExpressionAtlasi | O75503, baseline and differential |
Genevisiblei | O75503, HS |
Organism-specific databases
HPAi | ENSG00000102805, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SORT1, RAB5A and RAB7A (PubMed:22431521).
Interacts with PPT1, TPP1, CLN3, CLN6, CLN8, ATP5F1A and ATP5F1B (By similarity).
By similarity1 PublicationBinary interactionsi
O75503
With | #Exp. | IntAct |
---|---|---|
CLN3 [Q13286] | 2 | EBI-1043514,EBI-3248760 |
Protein-protein interaction databases
BioGRIDi | 107614, 83 interactors |
IntActi | O75503, 11 interactors |
MINTi | O75503 |
STRINGi | 9606.ENSP00000366673 |
Miscellaneous databases
RNActi | O75503, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 304 – 343 | Membrane-anchoring1 PublicationAdd BLAST | 40 |
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QPQ5, Eukaryota |
GeneTreei | ENSGT00390000010065 |
HOGENOMi | CLU_050387_0_0_1 |
InParanoidi | O75503 |
OMAi | FRPHQSF |
OrthoDBi | 1227965at2759 |
PhylomeDBi | O75503 |
TreeFami | TF330864 |
Family and domain databases
InterProi | View protein in InterPro IPR026138, CLN5 |
PANTHERi | PTHR15380, PTHR15380, 1 hit |
Pfami | View protein in Pfam PF15014, CLN5, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR
60 70 80 90 100
RHWPVPYKRF DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP
110 120 130 140 150
VWEFKYGDLL GHLKIMHDAI GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR
160 170 180 190 200
PEMDAPFWCN QGAACFFEGI DDVHWKENGT LVQVATISGN MFNQMAKWVK
210 220 230 240 250
QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN KLAEFGAEFK
260 270 280 290 300
NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP
310 320 330 340 350
TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI
RNKTLSGL
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GVL0 | A0A1B0GVL0_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 125 | Annotation score: | ||
A0A087WZY0 | A0A087WZY0_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 191 | Annotation score: | ||
A0A1B0GTV7 | A0A1B0GTV7_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 248 | Annotation score: | ||
A0A1B0GUE8 | A0A1B0GUE8_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 270 | Annotation score: | ||
A0A1B0GV94 | A0A1B0GV94_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 273 | Annotation score: | ||
A0A1C7CYZ2 | A0A1C7CYZ2_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 207 | Annotation score: | ||
A0A1B0GTR6 | A0A1B0GTR6_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 197 | Annotation score: | ||
A0A1B0GWI2 | A0A1B0GWI2_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 304 | Annotation score: | ||
A0A1B0GU14 | A0A1B0GU14_HUMAN | Ceroid-lipofuscinosis neuronal prot... | CLN5 | 36 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 57 | Y → C in BAG52069 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 92 | I → T in BAG52069 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066895 | 26 | W → R1 PublicationCorresponds to variant dbSNP:rs199727787EnsemblClinVar. | 1 | |
Natural variantiVAR_042700 | 63 | R → H in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs104894386EnsemblClinVar. | 1 | |
Natural variantiVAR_042702 | 63 | R → P in CLN5; Retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104894386EnsemblClinVar. | 1 | |
Natural variantiVAR_066896 | 77 | C → Y in CLN5. 1 PublicationCorresponds to variant dbSNP:rs267606738EnsemblClinVar. | 1 | |
Natural variantiVAR_066897 | 143 | N → S in CLN5; loss of glycosylation; effectively transported to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs386833975EnsemblClinVar. | 1 | |
Natural variantiVAR_066898 | 149 | L → P in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833976EnsemblClinVar. | 1 | |
Natural variantiVAR_066899 | 156 | P → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833977EnsemblClinVar. | 1 | |
Natural variantiVAR_066900 | 158 | W → R in CLN5. 1 PublicationCorresponds to variant dbSNP:rs147065248Ensembl. | 1 | |
Natural variantiVAR_066901 | 158 | W → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833978EnsemblClinVar. | 1 | |
Natural variantiVAR_066902 | 193 | N → K1 PublicationCorresponds to variant dbSNP:rs138611001EnsemblClinVar. | 1 | |
Natural variantiVAR_042701 | 209 | Y → D in CLN5. 2 PublicationsCorresponds to variant dbSNP:rs386833981EnsemblClinVar. | 1 | |
Natural variantiVAR_059031 | 219 | E → A. Corresponds to variant dbSNP:rs11842935EnsemblClinVar. | 1 | |
Natural variantiVAR_005137 | 230 | D → N in CLN5; creates a new N-glycosylation site; retained in the endoplasmic reticulum rather than reaching the lysosome. 6 PublicationsCorresponds to variant dbSNP:rs28940280EnsemblClinVar. | 1 | |
Natural variantiVAR_005138 | 319 | K → R1 PublicationCorresponds to variant dbSNP:rs1800209EnsemblClinVar. | 1 | |
Natural variantiVAR_066903 | 325 | Y → C in CLN5. 1 PublicationCorresponds to variant dbSNP:rs148862100EnsemblClinVar. | 1 | |
Natural variantiVAR_059032 | 330 | W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 PublicationCorresponds to variant dbSNP:rs386833968EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF068227 mRNA Translation: AAC27614.1 Different initiation. AK075109 mRNA Translation: BAG52069.1 AC001226 Genomic DNA No translation available. |
CCDSi | CCDS9456.1 |
RefSeqi | NP_006484.1, NM_006493.2 |
Genome annotation databases
Ensembli | ENST00000377453.9; ENSP00000366673.5; ENSG00000102805.16 ENST00000636183.2; ENSP00000490181.2; ENSG00000102805.16 |
GeneIDi | 1203 |
KEGGi | hsa:1203 |
MANE-Selecti | ENST00000377453.9; ENSP00000366673.5; NM_006493.4; NP_006484.2 |
UCSCi | uc058xoc.1, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
NCL CLN5 Neural Ceroid Lipofuscinoses mutation db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF068227 mRNA Translation: AAC27614.1 Different initiation. AK075109 mRNA Translation: BAG52069.1 AC001226 Genomic DNA No translation available. |
CCDSi | CCDS9456.1 |
RefSeqi | NP_006484.1, NM_006493.2 |
3D structure databases
AlphaFoldDBi | O75503 |
SMRi | O75503 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107614, 83 interactors |
IntActi | O75503, 11 interactors |
MINTi | O75503 |
STRINGi | 9606.ENSP00000366673 |
PTM databases
GlyConnecti | 1108, 17 N-Linked glycans (4 sites) |
GlyGeni | O75503, 8 sites, 16 N-linked glycans (4 sites) |
iPTMneti | O75503 |
PhosphoSitePlusi | O75503 |
Genetic variation databases
BioMutai | CLN5 |
Proteomic databases
EPDi | O75503 |
jPOSTi | O75503 |
MassIVEi | O75503 |
MaxQBi | O75503 |
PaxDbi | O75503 |
PeptideAtlasi | O75503 |
PRIDEi | O75503 |
ProteomicsDBi | 50054 |
Protocols and materials databases
Antibodypediai | 50072, 177 antibodies from 24 providers |
DNASUi | 1203 |
Genome annotation databases
Ensembli | ENST00000377453.9; ENSP00000366673.5; ENSG00000102805.16 ENST00000636183.2; ENSP00000490181.2; ENSG00000102805.16 |
GeneIDi | 1203 |
KEGGi | hsa:1203 |
MANE-Selecti | ENST00000377453.9; ENSP00000366673.5; NM_006493.4; NP_006484.2 |
UCSCi | uc058xoc.1, human |
Organism-specific databases
CTDi | 1203 |
DisGeNETi | 1203 |
GeneCardsi | CLN5 |
HGNCi | HGNC:2076, CLN5 |
HPAi | ENSG00000102805, Low tissue specificity |
MalaCardsi | CLN5 |
MIMi | 256731, phenotype 608102, gene |
neXtProti | NX_O75503 |
OpenTargetsi | ENSG00000102805 |
Orphaneti | 228360, CLN5 disease |
PharmGKBi | PA26603 |
VEuPathDBi | HostDB:ENSG00000102805 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPQ5, Eukaryota |
GeneTreei | ENSGT00390000010065 |
HOGENOMi | CLU_050387_0_0_1 |
InParanoidi | O75503 |
OMAi | FRPHQSF |
OrthoDBi | 1227965at2759 |
PhylomeDBi | O75503 |
TreeFami | TF330864 |
Enzyme and pathway databases
PathwayCommonsi | O75503 |
SignaLinki | O75503 |
Miscellaneous databases
BioGRID-ORCSi | 1203, 7 hits in 1070 CRISPR screens |
ChiTaRSi | CLN5, human |
GeneWikii | CLN5 |
GenomeRNAii | 1203 |
Pharosi | O75503, Tbio |
PROi | PR:O75503 |
RNActi | O75503, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102805, Expressed in thyroid gland and 238 other tissues |
ExpressionAtlasi | O75503, baseline and differential |
Genevisiblei | O75503, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026138, CLN5 |
PANTHERi | PTHR15380, PTHR15380, 1 hit |
Pfami | View protein in Pfam PF15014, CLN5, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CLN5_HUMAN | |
Accessioni | O75503Primary (citable) accession number: O75503 Secondary accession number(s): B3KQK7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | April 29, 2008 | |
Last modified: | May 25, 2022 | |
This is version 175 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families