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Entry version 161 (31 Jul 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Ceroid-lipofuscinosis neuronal protein 6

Gene

CLN6

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

<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

GO - Biological processi

<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 6
Short name:
Protein CLN6
<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:CLN6
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2077 CLN6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606725 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NWW5

<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 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>Transmembranei56 – 76HelicalSequence analysisAdd BLAST21
Transmembranei81 – 101HelicalSequence analysisAdd BLAST21
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Transmembranei204 – 224HelicalSequence analysisAdd BLAST21
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Transmembranei260 – 280HelicalSequence analysisAdd BLAST21

<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

Endoplasmic reticulum, 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, 6 (CLN6)7 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 6 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_06690517G → S in CLN6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763944821EnsemblClinVar.1
Natural variantiVAR_02154962R → H in CLN6. 1 PublicationCorresponds to variant dbSNP:rs751486476EnsemblClinVar.1
Natural variantiVAR_06690690N → K in CLN6. 1 Publication1
Natural variantiVAR_066907104S → F in CLN6. 1 Publication1
Natural variantiVAR_015683123G → D in CLN6. 1 PublicationCorresponds to variant dbSNP:rs104894484EnsemblClinVar.1
Natural variantiVAR_066908149R → C in CLN6. 1 PublicationCorresponds to variant dbSNP:rs747229909EnsemblClinVar.1
Natural variantiVAR_015684154Missing in CLN6. 1 Publication1
Natural variantiVAR_058436159P → L in CLN6. 1 PublicationCorresponds to variant dbSNP:rs919850756EnsemblClinVar.1
Natural variantiVAR_066909169L → P in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1344658850EnsemblClinVar.1
Natural variantiVAR_015685171Missing in CLN6. 1 Publication1
Natural variantiVAR_066910186F → S in CLN6. 1 Publication1
Natural variantiVAR_058437221Y → C in CLN6. 1 PublicationCorresponds to variant dbSNP:rs764571295Ensembl.1
Natural variantiVAR_021551221Y → S in CLN6. 1 PublicationCorresponds to variant dbSNP:rs764571295Ensembl.1
Natural variantiVAR_066911234F → L in CLN6. 2 PublicationsCorresponds to variant dbSNP:rs959199004Ensembl.1
Natural variantiVAR_021552241M → T in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1555438255EnsemblClinVar.1
Natural variantiVAR_066912252R → H in CLN6. 1 PublicationCorresponds to variant dbSNP:rs374681194EnsemblClinVar.1
Natural variantiVAR_066913259G → S in CLN6. 1 PublicationCorresponds to variant dbSNP:rs150363441Ensembl.1
Natural variantiVAR_021553265Missing in CLN6. 2 Publications1
Natural variantiVAR_066914297P → T in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1194940137Ensembl.1
Natural variantiVAR_021554299P → L in CLN6. 1 PublicationCorresponds to variant dbSNP:rs758921701EnsemblClinVar.1
Natural variantiVAR_015686300W → R in CLN6. 1 PublicationCorresponds to variant dbSNP:rs750937323EnsemblClinVar.1
Ceroid lipofuscinosis, neuronal, 4A (CLN4A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn adult-onset 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. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0658346R → T in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774636EnsemblClinVar.1
Natural variantiVAR_06583647L → F in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774635EnsemblClinVar.1
Natural variantiVAR_06583767L → P in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774633EnsemblClinVar.1
Natural variantiVAR_06583877N → K in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774641EnsemblClinVar.1
Natural variantiVAR_065839103R → Q in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774634EnsemblClinVar.1
Natural variantiVAR_065840149R → H in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774638EnsemblClinVar.1
Natural variantiVAR_065841238F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
54982

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

More...
GeneReviewsi
CLN6

MalaCards human disease database

More...
MalaCardsi
CLN6
MIMi204300 phenotype
601780 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000128973

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

More...
Orphaneti
228340 CLN4A disease
228363 CLN6 disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26604

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLN6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
32129457

<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_00000898621 – 311Ceroid-lipofuscinosis neuronal protein 6Add BLAST311

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NWW5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NWW5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NWW5

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

More...
PaxDbi
Q9NWW5

PeptideAtlas

More...
PeptideAtlasi
Q9NWW5

PRoteomics IDEntifications database

More...
PRIDEi
Q9NWW5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
3862
82991 [Q9NWW5-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NWW5

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

More...
PhosphoSitePlusi
Q9NWW5

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000128973 Expressed in 135 organ(s), highest expression level in spleen

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NWW5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NWW5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA066046
HPA074162

<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 CRMP2 (PubMed:19235893).

Interacts with CLN5 (PubMed:19941651).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
A0A142I5B94EBI-6165897,EBI-20625235From Zika virus (isolate ZIKV/Human/Cambodia/FSS13025/2010).

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120318, 14 interactors

Protein interaction database and analysis system

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IntActi
Q9NWW5, 59 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000249806

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJBC Eukaryota
ENOG410ZY0K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00400000022240

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013091

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NWW5

KEGG Orthology (KO)

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KOi
K12359

Database of Orthologous Groups

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OrthoDBi
1081916at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NWW5

TreeFam database of animal gene trees

More...
TreeFami
TF333294

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029255 CLN6

The PANTHER Classification System

More...
PANTHERi
PTHR16244 PTHR16244, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15156 CLN6, 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>Sequences (2+)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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWW5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY
60 70 80 90 100
FTLQNWVLDF GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL
110 120 130 140 150
IERSPRTLPR SITYVSIIIF IMGASIHLVG DSVNHRLLFS GYQHHLSVRE
160 170 180 190 200
NPIIKNLKPE TLIDSFELLY YYDEYLGHCM WYIPFFLILF MYFSGCFTAS
210 220 230 240 250
KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA MLALVLHQKR
260 270 280 290 300
KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW
310
AFYTLHVSSR H
Length:311
Mass (Da):35,919
Last modified:October 1, 2000 - v1
<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:iC718E6F2DC20CE0F
GO
Isoform 2 (identifier: Q9NWW5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: MEATRRRQHLGATGGPGAQLGASFLQAR → MAAVAGKERR...LRKLKFKGKK

Note: No experimental confirmation available.
Show »
Length:343
Mass (Da):39,484
Checksum:i861D47B5F541CDB0
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 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BUT1H3BUT1_HUMAN
Ceroid-lipofuscinosis neuronal 6 la...
CLN6 hCG_23813
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>
H3BTY4H3BTY4_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
158Annotation 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>
H3BUV4H3BUV4_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
213Annotation 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>
A0A1B0GTU6A0A1B0GTU6_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
251Annotation 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>
A0A0S2Z5D0A0A0S2Z5D0_HUMAN
Ceroid-lipofuscinosis neuronal 6 la...
CLN6
171Annotation 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>
A0A1B0GUD2A0A1B0GUD2_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
215Annotation 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>
A0A1B0GUQ7A0A1B0GUQ7_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
76Annotation 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>
A0A1B0GU39A0A1B0GU39_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
67Annotation 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>
A0A1B0GVR8A0A1B0GVR8_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
61Annotation 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>
H3BNF1H3BNF1_HUMAN
Ceroid-lipofuscinosis neuronal prot...
CLN6
105Annotation 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 are more potential isoformsShow all

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 conflicti281W → R in BAB55226 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0658346R → T in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774636EnsemblClinVar.1
Natural variantiVAR_06690412A → T1 PublicationCorresponds to variant dbSNP:rs112239768EnsemblClinVar.1
Natural variantiVAR_06690517G → S in CLN6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763944821EnsemblClinVar.1
Natural variantiVAR_06583534A → T1 PublicationCorresponds to variant dbSNP:rs146198681EnsemblClinVar.1
Natural variantiVAR_06583647L → F in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774635EnsemblClinVar.1
Natural variantiVAR_02154962R → H in CLN6. 1 PublicationCorresponds to variant dbSNP:rs751486476EnsemblClinVar.1
Natural variantiVAR_06583767L → P in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774633EnsemblClinVar.1
Natural variantiVAR_02155072E → Q2 PublicationsCorresponds to variant dbSNP:rs104894483EnsemblClinVar.1
Natural variantiVAR_06583877N → K in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774641EnsemblClinVar.1
Natural variantiVAR_06690690N → K in CLN6. 1 Publication1
Natural variantiVAR_065839103R → Q in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774634EnsemblClinVar.1
Natural variantiVAR_066907104S → F in CLN6. 1 Publication1
Natural variantiVAR_015683123G → D in CLN6. 1 PublicationCorresponds to variant dbSNP:rs104894484EnsemblClinVar.1
Natural variantiVAR_066908149R → C in CLN6. 1 PublicationCorresponds to variant dbSNP:rs747229909EnsemblClinVar.1
Natural variantiVAR_065840149R → H in CLN4A. 1 PublicationCorresponds to variant dbSNP:rs154774638EnsemblClinVar.1
Natural variantiVAR_015684154Missing in CLN6. 1 Publication1
Natural variantiVAR_058436159P → L in CLN6. 1 PublicationCorresponds to variant dbSNP:rs919850756EnsemblClinVar.1
Natural variantiVAR_066909169L → P in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1344658850EnsemblClinVar.1
Natural variantiVAR_015685171Missing in CLN6. 1 Publication1
Natural variantiVAR_066910186F → S in CLN6. 1 Publication1
Natural variantiVAR_058437221Y → C in CLN6. 1 PublicationCorresponds to variant dbSNP:rs764571295Ensembl.1
Natural variantiVAR_021551221Y → S in CLN6. 1 PublicationCorresponds to variant dbSNP:rs764571295Ensembl.1
Natural variantiVAR_066911234F → L in CLN6. 2 PublicationsCorresponds to variant dbSNP:rs959199004Ensembl.1
Natural variantiVAR_065841238F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_021552241M → T in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1555438255EnsemblClinVar.1
Natural variantiVAR_066912252R → H in CLN6. 1 PublicationCorresponds to variant dbSNP:rs374681194EnsemblClinVar.1
Natural variantiVAR_066913259G → S in CLN6. 1 PublicationCorresponds to variant dbSNP:rs150363441Ensembl.1
Natural variantiVAR_021553265Missing in CLN6. 2 Publications1
Natural variantiVAR_066914297P → T in CLN6. 1 PublicationCorresponds to variant dbSNP:rs1194940137Ensembl.1
Natural variantiVAR_021554299P → L in CLN6. 1 PublicationCorresponds to variant dbSNP:rs758921701EnsemblClinVar.1
Natural variantiVAR_015686300W → R in CLN6. 1 PublicationCorresponds to variant dbSNP:rs750937323EnsemblClinVar.1
Natural variantiVAR_065842308S → T1 PublicationCorresponds to variant dbSNP:rs143578698EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0561971 – 28MEATR…FLQAR → MAAVAGKERRARGRPRPETL GAIPRREGGEAGLSRAFKPL AQAPLSCETSLRKLKFKGKK in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK000568 mRNA Translation: BAA91260.1
AK027604 mRNA Translation: BAB55226.1
AK291175 mRNA Translation: BAF83864.1
AK293197 mRNA Translation: BAG56737.1
CR457244 mRNA Translation: CAG33525.1
AC107871 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77811.1
BC010849 mRNA Translation: AAH10849.1
BC013130 mRNA Translation: AAH13130.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10227.1 [Q9NWW5-1]

NCBI Reference Sequences

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RefSeqi
NP_060352.1, NM_017882.2 [Q9NWW5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000249806; ENSP00000249806; ENSG00000128973 [Q9NWW5-1]
ENST00000538696; ENSP00000445770; ENSG00000128973 [Q9NWW5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54982

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54982

UCSC genome browser

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UCSCi
uc002arf.3 human [Q9NWW5-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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 CLN6

Neural Ceroid Lipofuscinoses mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000568 mRNA Translation: BAA91260.1
AK027604 mRNA Translation: BAB55226.1
AK291175 mRNA Translation: BAF83864.1
AK293197 mRNA Translation: BAG56737.1
CR457244 mRNA Translation: CAG33525.1
AC107871 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77811.1
BC010849 mRNA Translation: AAH10849.1
BC013130 mRNA Translation: AAH13130.1
CCDSiCCDS10227.1 [Q9NWW5-1]
RefSeqiNP_060352.1, NM_017882.2 [Q9NWW5-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120318, 14 interactors
IntActiQ9NWW5, 59 interactors
STRINGi9606.ENSP00000249806

PTM databases

iPTMnetiQ9NWW5
PhosphoSitePlusiQ9NWW5

Polymorphism and mutation databases

BioMutaiCLN6
DMDMi32129457

Proteomic databases

EPDiQ9NWW5
jPOSTiQ9NWW5
MaxQBiQ9NWW5
PaxDbiQ9NWW5
PeptideAtlasiQ9NWW5
PRIDEiQ9NWW5
ProteomicsDBi3862
82991 [Q9NWW5-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54982
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249806; ENSP00000249806; ENSG00000128973 [Q9NWW5-1]
ENST00000538696; ENSP00000445770; ENSG00000128973 [Q9NWW5-2]
GeneIDi54982
KEGGihsa:54982
UCSCiuc002arf.3 human [Q9NWW5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54982
DisGeNETi54982

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CLN6
GeneReviewsiCLN6
HGNCiHGNC:2077 CLN6
HPAiHPA066046
HPA074162
MalaCardsiCLN6
MIMi204300 phenotype
601780 phenotype
606725 gene
neXtProtiNX_Q9NWW5
OpenTargetsiENSG00000128973
Orphaneti228340 CLN4A disease
228363 CLN6 disease
PharmGKBiPA26604

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJBC Eukaryota
ENOG410ZY0K LUCA
GeneTreeiENSGT00400000022240
HOGENOMiHOG000013091
InParanoidiQ9NWW5
KOiK12359
OrthoDBi1081916at2759
PhylomeDBiQ9NWW5
TreeFamiTF333294

Miscellaneous databases

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

More...
ChiTaRSi
CLN6 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CLN6

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

More...
GenomeRNAii
54982

Protein Ontology

More...
PROi
PR:Q9NWW5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000128973 Expressed in 135 organ(s), highest expression level in spleen
ExpressionAtlasiQ9NWW5 baseline and differential
GenevisibleiQ9NWW5 HS

Family and domain databases

InterProiView protein in InterPro
IPR029255 CLN6
PANTHERiPTHR16244 PTHR16244, 1 hit
PfamiView protein in Pfam
PF15156 CLN6, 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 nameiCLN6_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: Q9NWW5
Secondary accession number(s): A8K560
, B4DDH6, Q6IAB1, Q96SR0
<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: June 16, 2003
Last sequence update: October 1, 2000
Last modified: July 31, 2019
This is version 161 of the entry and version 1 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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