Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - O75503 (CLN5_HUMAN)

Entry version 160 (05 Jun 2019)
Sequence version 2 (29 Apr 2008)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Ceroid-lipofuscinosis neuronal protein 5

Gene

CLN5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ceroid-lipofuscinosis neuronal protein 5
Short name:
Protein CLN5
Cleaved into the following chain:
Ceroid-lipofuscinosis neuronal protein 5, secreted form
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CLN5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2076 CLN5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608102 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75503

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 23Cytoplasmic1 PublicationAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei24 – 41Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini42 – 358Lumenal1 PublicationAdd BLAST317

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 5 (CLN5)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04270063R → H in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs104894386Ensembl.1
Natural variantiVAR_04270263R → P in CLN5; Retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104894386Ensembl.1
Natural variantiVAR_06689677C → Y in CLN5. 1 PublicationCorresponds to variant dbSNP:rs267606738Ensembl.1
Natural variantiVAR_066897143N → S in CLN5; loss of glycosylation; effectively transported to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs386833975Ensembl.1
Natural variantiVAR_066898149L → P in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833976Ensembl.1
Natural variantiVAR_066899156P → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833977Ensembl.1
Natural variantiVAR_066900158W → R in CLN5. 1 PublicationCorresponds to variant dbSNP:rs147065248Ensembl.1
Natural variantiVAR_066901158W → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833978Ensembl.1
Natural variantiVAR_042701209Y → D in CLN5. 2 PublicationsCorresponds to variant dbSNP:rs386833981Ensembl.1
Natural variantiVAR_005137230D → N in CLN5; creates a new N-glycosylation site; retained in the endoplasmic reticulum rather than reaching the lysosome. 6 PublicationsCorresponds to variant dbSNP:rs28940280Ensembl.1
Natural variantiVAR_066903325Y → C in CLN5. 1 PublicationCorresponds to variant dbSNP:rs148862100Ensembl.1
Natural variantiVAR_059032330W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 PublicationCorresponds to variant dbSNP:rs386833968Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi130N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication1
Mutagenesisi143N → Q: Loss of glycosylation. Effectively transported to the lysosome. 1 Publication1
Mutagenesisi178N → Q: Loss of glycosylation. Effectively transported to the lysosome. 1 Publication1
Mutagenesisi203N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication1
Mutagenesisi255N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication1
Mutagenesisi271N → Q: Loss of glycosylation. Retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication1
Mutagenesisi281N → Q: Loss of glycosylation. Partially retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi352N → Q: Loss of glycosylation. Retained in the Golgi apparatus rather than reaching the lysosome. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNET

More...DisGeNETi		1203

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CLN5

MalaCards human disease database

More...MalaCardsi		CLN5
MIMi256731 phenotype

Open Targets

More...OpenTargetsi		ENSG00000102805

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		228360 CLN5 disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26603

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CLN5

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000898601 – 358Ceroid-lipofuscinosis neuronal protein 5Add BLAST358
ChainiPRO_0000438009? – 358Ceroid-lipofuscinosis neuronal protein 5, secreted form

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi130N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi143N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi178N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi203N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi255N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi271N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi281N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi352N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.4 Publications
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).2 Publications
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).1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75503

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75503

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75503

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O75503

PeptideAtlas

More...PeptideAtlasi		O75503

PRoteomics IDEntifications database

More...PRIDEi		O75503

ProteomicsDB human proteome resource

More...ProteomicsDBi		50054

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1108

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75503

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75503

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102805 Expressed in 228 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75503 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75503 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA041788

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SORT1, RAB5A and RAB7A (PubMed:22431521).

Interacts with PPT1, TPP1, CLN3, CLN6, CLN8, ATP5F1A and ATP5F1B (By similarity).

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107614, 45 interactors

Protein interaction database and analysis system

More...IntActi		O75503, 3 interactors

Molecular INTeraction database

More...MINTi		O75503

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000366673

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75503

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni304 – 343Membrane-anchoring1 PublicationAdd BLAST40

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CLN5 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IJEH Eukaryota
ENOG4110RH0 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000010065

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000060233

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75503

KEGG Orthology (KO)

More...KOi		K12390

Database of Orthologous Groups

More...OrthoDBi		1227965at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75503

TreeFam database of animal gene trees

More...TreeFami		TF330864

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026138 CLN5

The PANTHER Classification System

More...PANTHERi		PTHR15380 PTHR15380, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15014 CLN5, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

O75503-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:358
Mass (Da):41,497
Last modified:April 29, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i07E49D4913685190
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVL0A0A1B0GVL0_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MRU5A0A0A0MRU5_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
358Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTV7A0A1B0GTV7_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
248Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WZY0A0A087WZY0_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A024R644A0A024R644_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5 hCG_28176
407Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTR6A0A1B0GTR6_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
197Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV94A0A1B0GV94_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
273Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYZ2A0A1C7CYZ2_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUE8A0A1B0GUE8_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
270Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWI2A0A1B0GWI2_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN5
304Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC27614 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti57Y → C in BAG52069 (PubMed:14702039).Curated1
Sequence conflicti92I → T in BAG52069 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06689526W → R1 PublicationCorresponds to variant dbSNP:rs199727787EnsemblClinVar.1
Natural variantiVAR_04270063R → H in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs104894386Ensembl.1
Natural variantiVAR_04270263R → P in CLN5; Retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs104894386Ensembl.1
Natural variantiVAR_06689677C → Y in CLN5. 1 PublicationCorresponds to variant dbSNP:rs267606738Ensembl.1
Natural variantiVAR_066897143N → S in CLN5; loss of glycosylation; effectively transported to the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs386833975Ensembl.1
Natural variantiVAR_066898149L → P in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833976Ensembl.1
Natural variantiVAR_066899156P → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833977Ensembl.1
Natural variantiVAR_066900158W → R in CLN5. 1 PublicationCorresponds to variant dbSNP:rs147065248Ensembl.1
Natural variantiVAR_066901158W → S in CLN5. 1 PublicationCorresponds to variant dbSNP:rs386833978Ensembl.1
Natural variantiVAR_066902193N → K1 PublicationCorresponds to variant dbSNP:rs138611001EnsemblClinVar.1
Natural variantiVAR_042701209Y → D in CLN5. 2 PublicationsCorresponds to variant dbSNP:rs386833981Ensembl.1
Natural variantiVAR_059031219E → A. Corresponds to variant dbSNP:rs11842935Ensembl.1
Natural variantiVAR_005137230D → N in CLN5; creates a new N-glycosylation site; retained in the endoplasmic reticulum rather than reaching the lysosome. 6 PublicationsCorresponds to variant dbSNP:rs28940280Ensembl.1
Natural variantiVAR_005138319K → R1 PublicationCorresponds to variant dbSNP:rs1800209Ensembl.1
Natural variantiVAR_066903325Y → C in CLN5. 1 PublicationCorresponds to variant dbSNP:rs148862100Ensembl.1
Natural variantiVAR_059032330W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 PublicationCorresponds to variant dbSNP:rs386833968Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF068227 mRNA Translation: AAC27614.1 Different initiation.
AK075109 mRNA Translation: BAG52069.1
AC001226 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9456.1

NCBI Reference Sequences

More...RefSeqi		NP_006484.1, NM_006493.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000377453; ENSP00000366673; ENSG00000102805
ENST00000636183; ENSP00000490181; ENSG00000102805

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1203

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1203

UCSC genome browser

More...UCSCi		uc058xoc.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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.
CCDSiCCDS9456.1
RefSeqiNP_006484.1, NM_006493.2

3D structure databases

SMRiO75503
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107614, 45 interactors
IntActiO75503, 3 interactors
MINTiO75503
STRINGi9606.ENSP00000366673

PTM databases

GlyConnecti1108
iPTMnetiO75503
PhosphoSitePlusiO75503

Polymorphism and mutation databases

BioMutaiCLN5

Proteomic databases

EPDiO75503
jPOSTiO75503
MaxQBiO75503
PaxDbiO75503
PeptideAtlasiO75503
PRIDEiO75503
ProteomicsDBi50054

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1203
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377453; ENSP00000366673; ENSG00000102805
ENST00000636183; ENSP00000490181; ENSG00000102805
GeneIDi1203
KEGGihsa:1203
UCSCiuc058xoc.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1203
DisGeNETi1203

GeneCards: human genes, protein and diseases

More...GeneCardsi		CLN5
GeneReviewsiCLN5
HGNCiHGNC:2076 CLN5
HPAiHPA041788
MalaCardsiCLN5
MIMi256731 phenotype
608102 gene
neXtProtiNX_O75503
OpenTargetsiENSG00000102805
Orphaneti228360 CLN5 disease
PharmGKBiPA26603

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IJEH Eukaryota
ENOG4110RH0 LUCA
GeneTreeiENSGT00390000010065
HOGENOMiHOG000060233
InParanoidiO75503
KOiK12390
OrthoDBi1227965at2759
PhylomeDBiO75503
TreeFamiTF330864

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CLN5 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CLN5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1203

Protein Ontology

More...PROi		PR:O75503

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102805 Expressed in 228 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiO75503 baseline and differential
GenevisibleiO75503 HS

Family and domain databases

InterProiView protein in InterPro
IPR026138 CLN5
PANTHERiPTHR15380 PTHR15380, 1 hit
PfamiView protein in Pfam
PF15014 CLN5, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCLN5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75503
Secondary accession number(s): B3KQK7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 29, 2008
Last modified: June 5, 2019
This is version 160 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again