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Protein

Battenin

Gene

CLN3

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

Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.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

  • unfolded protein binding Source: ProtInc

GO - Biological processi

<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>Keywordsi

Biological processTransport

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.57.5.8 the equilibrative nucleoside transporter (ent) family

<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:
Battenin
Alternative name(s):
Batten disease protein
Protein CLN3
<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:CLN3
Synonyms:BTS
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000188603.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2074 CLN3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607042 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13286

<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; 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 – 37CytoplasmicSequence analysisAdd BLAST37
<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>Transmembranei38 – 58HelicalSequence analysisAdd BLAST21
Topological domaini59 – 127LumenalSequence analysisAdd BLAST69
Transmembranei128 – 148HelicalSequence analysisAdd BLAST21
Topological domaini149 – 151CytoplasmicSequence analysis3
Transmembranei152 – 172HelicalSequence analysisAdd BLAST21
Topological domaini173 – 182LumenalSequence analysis10
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 277CytoplasmicSequence analysisAdd BLAST74
Transmembranei278 – 298HelicalSequence analysisAdd BLAST21
Topological domaini299 – 346LumenalSequence analysisAdd BLAST48
Transmembranei347 – 367HelicalSequence analysisAdd BLAST21
Topological domaini368 – 438CytoplasmicSequence analysisAdd BLAST71

Keywords - Cellular componenti

Endosome, 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, 3 (CLN3)4 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.
See also OMIM:204200
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_005131101L → P in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833714EnsemblClinVar.1
Natural variantiVAR_066892134C → R in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833719EnsemblClinVar.1
Natural variantiVAR_005132170L → P in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833727EnsemblClinVar.1
Natural variantiVAR_066893187G → A in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833730EnsemblClinVar.1
Natural variantiVAR_066894189G → R in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833731EnsemblClinVar.1
Natural variantiVAR_005133295E → K in CLN3; the mutant is located to vesicles clustered in a perinuclear region. 4 PublicationsCorresponds to variant dbSNP:rs121434286EnsemblClinVar.1
Natural variantiVAR_005134330V → F in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833744EnsemblClinVar.1
Natural variantiVAR_005135334R → C in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833694EnsemblClinVar.1
Natural variantiVAR_005136334R → H in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833695EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
1201

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

More...
GeneReviewsi
CLN3

MalaCards human disease database

More...
MalaCardsi
CLN3
MIMi204200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188603
ENSG00000261832

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

More...
Orphaneti
228346 CLN3 disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26601

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLN3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2498243

<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_00000898571 – 435BatteninAdd BLAST435
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000422290436 – 438Removed in mature formCurated3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei12PhosphoserineCombined sources1
Modified residuei14PhosphoserineCombined sources1
<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>Glycosylationi71N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi85N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi310N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei435Cysteine methyl esterCurated1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi435S-farnesyl cysteine1 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

Highly glycosylated.1 Publication
Farnesylation is important for trafficking to lysosomes.1 Publication

Keywords - PTMi

Glycoprotein, Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q13286

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13286

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

More...
PaxDbi
Q13286

PeptideAtlas

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PeptideAtlasi
Q13286

PRoteomics IDEntifications database

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PRIDEi
Q13286

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59277
59278 [Q13286-2]
59279 [Q13286-3]
59280 [Q13286-4]
59281 [Q13286-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13286

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

More...
PhosphoSitePlusi
Q13286

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13286

<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

More...
Bgeei
ENSG00000188603 Expressed in 89 organ(s), highest expression level in mucosa of transverse colon

CleanEx database of gene expression profiles

More...
CleanExi
HS_CLN3

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q13286 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13286 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA063280

<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 DCTN1, KIF3A, RAB7A and RILP (PubMed:22261744). Interacts with CLN5 (PubMed:19941651).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107612, 100 interactors

Protein interaction database and analysis system

More...
IntActi
Q13286, 36 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000353073

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13286

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<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 battenin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3880 Eukaryota
ENOG410XT4Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003249

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000164765

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG017297

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13286

KEGG Orthology (KO)

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KOi
K12389

Identification of Orthologs from Complete Genome Data

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OMAi
WVNFRIA

Database of Orthologous Groups

More...
OrthoDBi
1037817at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13286

TreeFam database of animal gene trees

More...
TreeFami
TF314055

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003492 Battenin_disease_Cln3
IPR018460 Battenin_disease_Cln3_subgr
IPR036259 MFS_trans_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10981 PTHR10981, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02487 CLN3, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF015974 CLN3_BTN1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01315 BATTENIN

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 describes 7 <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
Note: Additional isoforms seem to exist.

This entry has 7 described isoforms and 31 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13286-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF
60 70 80 90 100
SYVVMLSAAH DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV
110 120 130 140 150
LLADILPTLV IKLLAPLGLH LLPYSPRVLV SGICAAGSFV LVAFSHSVGT
160 170 180 190 200
SLCGVVFASI SSGLGEVTFL SLTAFYPRAV ISWWSSGTGG AGLLGALSYL
210 220 230 240 250
GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG GEEEAESAAR
260 270 280 290 300
QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ
310 320 330 340 350
GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL
360 370 380 390 400
LQCLNLVFLL ADVWFGFLPS IYLVFLIILY EGLLGGAAYV NTFHNIALET
410 420 430
SDEHREFAMA ATCISDTLGI SLSGLLALPL HDFLCQLS
Length:438
Mass (Da):47,623
Last modified:November 1, 1996 - 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:iBE25E973CEEC4FD5
GO
Isoform 2 (identifier: Q13286-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     178-225: Missing.

Show »
Length:390
Mass (Da):42,829
Checksum:i30722C86911C70C0
GO
Isoform 3 (identifier: Q13286-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     280-302: GLLWYIVPLVVVYFAEYFINQGL → VRMMAG

Show »
Length:421
Mass (Da):45,570
Checksum:i503A97EDF8B72CC3
GO
Isoform 4 (identifier: Q13286-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-438: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:321
Mass (Da):34,569
Checksum:i482F021A8FF39B63
GO
Isoform 5 (identifier: Q13286-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     155-264: Missing.
     353-438: CLNLVFLLAD...PLHDFLCQLS → MESRSVAQAGM

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:253
Mass (Da):28,016
Checksum:i5FFBAA4622A8DF52
GO
Isoform 6 (identifier: Q13286-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-127: AVLLADILPTLVIKLLAPLGLHLLPYSPR → PPGSRQWDLCCWKLRPGCLFSFCGDQPVC
     128-226: Missing.

Show »
Length:339
Mass (Da):37,969
Checksum:iDD2C9A3D0A6B022D
GO
Isoform 7 (identifier: Q13286-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     75-98: Missing.

Note: No experimental confirmation available.
Show »
Length:414
Mass (Da):45,155
Checksum:i79C2C41ADB5BAADA
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 31 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMN4H3BMN4_HUMAN
Battenin
CLN3
218Annotation score:

Annotation score:2 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>
A0A1B0GUX3A0A1B0GUX3_HUMAN
Battenin
135Annotation score:

Annotation score:2 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>
O95086O95086_HUMAN
Battenin
CLN3
336Annotation score:

Annotation score:2 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>
Q9UBD8Q9UBD8_HUMAN
Battenin
CLN3
181Annotation score:

Annotation score:2 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>
H3BR84H3BR84_HUMAN
Battenin
CLN3
176Annotation score:

Annotation score:2 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>
F6TI76F6TI76_HUMAN
Battenin
CLN3 hCG_1745226
285Annotation score:

Annotation score:2 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>
H3BNK7H3BNK7_HUMAN
Battenin
CLN3
228Annotation score:

Annotation score:2 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>
A0A1B0GV71A0A1B0GV71_HUMAN
Battenin
CLN3
370Annotation score:

Annotation score:2 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>
H3BR00H3BR00_HUMAN
Battenin
CLN3
155Annotation score:

Annotation score:2 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>
A0A1B0GV41A0A1B0GV41_HUMAN
Battenin
CLN3
269Annotation score:

Annotation score:2 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 conflicti259P → L in BAG35838 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005131101L → P in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833714EnsemblClinVar.1
Natural variantiVAR_066892134C → R in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833719EnsemblClinVar.1
Natural variantiVAR_005132170L → P in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833727EnsemblClinVar.1
Natural variantiVAR_066893187G → A in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833730EnsemblClinVar.1
Natural variantiVAR_066894189G → R in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833731EnsemblClinVar.1
Natural variantiVAR_005133295E → K in CLN3; the mutant is located to vesicles clustered in a perinuclear region. 4 PublicationsCorresponds to variant dbSNP:rs121434286EnsemblClinVar.1
Natural variantiVAR_005134330V → F in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833744EnsemblClinVar.1
Natural variantiVAR_005135334R → C in CLN3. 1 PublicationCorresponds to variant dbSNP:rs386833694EnsemblClinVar.1
Natural variantiVAR_005136334R → H in CLN3. 2 PublicationsCorresponds to variant dbSNP:rs386833695EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05734775 – 98Missing in isoform 7. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_04763199 – 127AVLLA…PYSPR → PPGSRQWDLCCWKLRPGCLF SFCGDQPVC in isoform 6. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_047632128 – 226Missing in isoform 6. 1 PublicationAdd BLAST99
Alternative sequenceiVSP_004169155 – 264Missing in isoform 5. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_004166178 – 225Missing in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_004167280 – 302GLLWY…INQGL → VRMMAG in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_004168322 – 438Missing in isoform 4. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_004170353 – 438CLNLV…LCQLS → MESRSVAQAGM in isoform 5. 1 PublicationAdd BLAST86

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
U32680 mRNA Translation: AAB51075.1
X99832 Genomic DNA Translation: CAA68148.1
AF015593 mRNA Translation: AAD01555.1
AF015598 mRNA Translation: AAD01560.1
AF077956 mRNA Translation: AAD51478.1
AF077957 mRNA Translation: AAD51479.1
AF077958 mRNA Translation: AAD51480.1
AF077959 mRNA Translation: AAD51481.1
AF077961 mRNA Translation: AAD51483.1
AF077962 mRNA Translation: AAD51484.1
AF077966 mRNA Translation: AAD51488.1
AF077960 mRNA Translation: AAD51482.1
AF077963 mRNA Translation: AAD51485.1
AF077965 mRNA Translation: AAD51487.1
AF077971 mRNA Translation: AAD51493.1
AF077972 mRNA Translation: AAD51494.1
AF078169 mRNA Translation: AAD48543.1
AK302027 mRNA Translation: BAG63425.1
AK313002 mRNA Translation: BAG35838.1
AC002425 Genomic DNA Translation: AAC05337.1
AC002544 Genomic DNA Translation: AAC27430.1
AC138894 Genomic DNA No translation available.
CH471279 Genomic DNA Translation: EAW52281.1
CH471279 Genomic DNA Translation: EAW52286.1
BC002394 mRNA Translation: AAH02394.1
BC004433 mRNA Translation: AAH04433.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10632.1 [Q13286-1]
CCDS73855.1 [Q13286-7]

Protein sequence database of the Protein Information Resource

More...
PIRi
A57219

NCBI Reference Sequences

More...
RefSeqi
NP_000077.1, NM_000086.2 [Q13286-1]
NP_001035897.1, NM_001042432.1 [Q13286-1]
NP_001273033.1, NM_001286104.1 [Q13286-7]
NP_001273034.1, NM_001286105.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.534667

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000333496; ENSP00000329171; ENSG00000188603 [Q13286-7]
ENST00000355477; ENSP00000347660; ENSG00000188603 [Q13286-2]
ENST00000357806; ENSP00000350457; ENSG00000188603 [Q13286-6]
ENST00000359984; ENSP00000353073; ENSG00000188603 [Q13286-1]
ENST00000360019; ENSP00000353116; ENSG00000188603 [Q13286-7]
ENST00000565316; ENSP00000456117; ENSG00000188603 [Q13286-3]
ENST00000569030; ENSP00000454680; ENSG00000188603 [Q13286-5]
ENST00000569430; ENSP00000454229; ENSG00000188603 [Q13286-1]
ENST00000636147; ENSP00000490105; ENSG00000188603 [Q13286-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1201

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1201

UCSC genome browser

More...
UCSCi
uc002dpo.4 human [Q13286-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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 CLN3

Neural Ceroid Lipofuscinoses mutation db

Mutations of the CLN3 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U32680 mRNA Translation: AAB51075.1
X99832 Genomic DNA Translation: CAA68148.1
AF015593 mRNA Translation: AAD01555.1
AF015598 mRNA Translation: AAD01560.1
AF077956 mRNA Translation: AAD51478.1
AF077957 mRNA Translation: AAD51479.1
AF077958 mRNA Translation: AAD51480.1
AF077959 mRNA Translation: AAD51481.1
AF077961 mRNA Translation: AAD51483.1
AF077962 mRNA Translation: AAD51484.1
AF077966 mRNA Translation: AAD51488.1
AF077960 mRNA Translation: AAD51482.1
AF077963 mRNA Translation: AAD51485.1
AF077965 mRNA Translation: AAD51487.1
AF077971 mRNA Translation: AAD51493.1
AF077972 mRNA Translation: AAD51494.1
AF078169 mRNA Translation: AAD48543.1
AK302027 mRNA Translation: BAG63425.1
AK313002 mRNA Translation: BAG35838.1
AC002425 Genomic DNA Translation: AAC05337.1
AC002544 Genomic DNA Translation: AAC27430.1
AC138894 Genomic DNA No translation available.
CH471279 Genomic DNA Translation: EAW52281.1
CH471279 Genomic DNA Translation: EAW52286.1
BC002394 mRNA Translation: AAH02394.1
BC004433 mRNA Translation: AAH04433.1
CCDSiCCDS10632.1 [Q13286-1]
CCDS73855.1 [Q13286-7]
PIRiA57219
RefSeqiNP_000077.1, NM_000086.2 [Q13286-1]
NP_001035897.1, NM_001042432.1 [Q13286-1]
NP_001273033.1, NM_001286104.1 [Q13286-7]
NP_001273034.1, NM_001286105.1
UniGeneiHs.534667

3D structure databases

ProteinModelPortaliQ13286
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107612, 100 interactors
IntActiQ13286, 36 interactors
STRINGi9606.ENSP00000353073

Protein family/group databases

TCDBi2.A.57.5.8 the equilibrative nucleoside transporter (ent) family

PTM databases

iPTMnetiQ13286
PhosphoSitePlusiQ13286
SwissPalmiQ13286

Polymorphism and mutation databases

BioMutaiCLN3
DMDMi2498243

Proteomic databases

EPDiQ13286
jPOSTiQ13286
PaxDbiQ13286
PeptideAtlasiQ13286
PRIDEiQ13286
ProteomicsDBi59277
59278 [Q13286-2]
59279 [Q13286-3]
59280 [Q13286-4]
59281 [Q13286-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1201
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333496; ENSP00000329171; ENSG00000188603 [Q13286-7]
ENST00000355477; ENSP00000347660; ENSG00000188603 [Q13286-2]
ENST00000357806; ENSP00000350457; ENSG00000188603 [Q13286-6]
ENST00000359984; ENSP00000353073; ENSG00000188603 [Q13286-1]
ENST00000360019; ENSP00000353116; ENSG00000188603 [Q13286-7]
ENST00000565316; ENSP00000456117; ENSG00000188603 [Q13286-3]
ENST00000569030; ENSP00000454680; ENSG00000188603 [Q13286-5]
ENST00000569430; ENSP00000454229; ENSG00000188603 [Q13286-1]
ENST00000636147; ENSP00000490105; ENSG00000188603 [Q13286-1]
GeneIDi1201
KEGGihsa:1201
UCSCiuc002dpo.4 human [Q13286-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1201
DisGeNETi1201
EuPathDBiHostDB:ENSG00000188603.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CLN3
GeneReviewsiCLN3
HGNCiHGNC:2074 CLN3
HPAiHPA063280
MalaCardsiCLN3
MIMi204200 phenotype
607042 gene
neXtProtiNX_Q13286
OpenTargetsiENSG00000188603
ENSG00000261832
Orphaneti228346 CLN3 disease
PharmGKBiPA26601

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3880 Eukaryota
ENOG410XT4Z LUCA
GeneTreeiENSGT00390000003249
HOGENOMiHOG000164765
HOVERGENiHBG017297
InParanoidiQ13286
KOiK12389
OMAiWVNFRIA
OrthoDBi1037817at2759
PhylomeDBiQ13286
TreeFamiTF314055

Miscellaneous databases

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

More...
ChiTaRSi
CLN3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CLN3

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

More...
GenomeRNAii
1201

Protein Ontology

More...
PROi
PR:Q13286

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188603 Expressed in 89 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_CLN3
ExpressionAtlasiQ13286 baseline and differential
GenevisibleiQ13286 HS

Family and domain databases

InterProiView protein in InterPro
IPR003492 Battenin_disease_Cln3
IPR018460 Battenin_disease_Cln3_subgr
IPR036259 MFS_trans_sf
PANTHERiPTHR10981 PTHR10981, 1 hit
PfamiView protein in Pfam
PF02487 CLN3, 1 hit
PIRSFiPIRSF015974 CLN3_BTN1, 1 hit
PRINTSiPR01315 BATTENIN
SUPFAMiSSF103473 SSF103473, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCLN3_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: Q13286
Secondary accession number(s): B2R7J1
, B4DXL3, O00668, O95089, Q549S9, Q9UP09, Q9UP11, Q9UP12, Q9UP13, Q9UP14
<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: November 1, 1997
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 176 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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