Protein detail

CLN3

Battenin (Batten disease protein) (Protein CLN3)

Entry name CLN3	UniProt ID Q13286	EVMP score 0.38
Frequency 8	Transmembrane count 6	Protein classification Disease related genesHuman disease related genesPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters

EVMP score: annotation confidence score.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information

Protein Names

Battenin (Batten disease protein) (Protein CLN3)

Protein Class

Disease related genesHuman disease related genesPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters

Protein Function

Predicted intracellular proteins
Human disease related genes:Congenital disorders of metabolism:Congenital disorders of lipid/glycolipid metabolism
Potential drug targets
Transporters:Electrochemical Potential-driven transporters
Disease related genes
Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases

Transmembrane

38..58; Helical; 128..148; Helical; 152..172; Helical; 183..203; Helical; 278..298; Helical; 347..367; Helical

Transmembrane Count

Ensembl

ENSG00000188603

Entrez Gene Symbol

CLN3

Gene Synonym

BTN1BTSJNCL

Gene Description

CLN3 lysosomal/endosomal transmembrane protein, battenin

Chromosome

Position

28474111-28495575

Frequency

EVMP Score

0.38

Fluorescence & Localization

Tissue Specificbone marrowCell SpecificPlateletsSingle-Nuclei Brain Specificcentral nervous system macrophageBlood Cell SpecificbasophilBlood Lineage Specificgranulocytes

Function & Pathway

Protein Function

Predicted intracellular proteins
Human disease related genes:Congenital disorders of metabolism:Congenital disorders of lipid/glycolipid metabolism
Potential drug targets
Transporters:Electrochemical Potential-driven transporters
Disease related genes
Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases

Molecular Function

Biological Process

KEGG

hsa04142 Lysosome biogenesis

Reactome

Mediation Categories

Adhesion and uptake mediationClinical-translation mediationFusion and delivery mediationImmune mediationMetabolism mediationReceptor-signaling mediation

Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

17 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
transmembrane	transmembrane	UniProt_location	No	No	No	No	No
transmembrane	transmembrane	UniProt_topology	No	No	No	No	No
transmembrane	transmembrane	UniProt_keyword	No	No	No	No	No
transmembrane	transmembrane	TopDB	No	No	No	No	No
transmembrane	transmembrane	LOCATE	No	No	No	No	No

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Regulatory Interaction Network

1 record.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
CDK1	P06493	CLN3	Q13286	Yes	No	Yes	SIGNOR	SIGNOR:23217712

Protein Complex Composition

1 record.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
	CLN3 GLE1 NUP107 NUP133 NUP155 NUP205 NUP214 NUP93 NUP98 NXF1 RAE1 SEH1L UBC	O75694 P0CG48 P35658 P52948 P57740 P78406 Q13286 Q53GS7 Q8N1F7 Q8WUM0 Q92621 Q96EE3 Q9UBU9	1:1:1:1:1:1:1:1:1:1:1:1:1	NetworkBlastCompleat	Compleat:HC7755

Isolation & Detection Technology

1 record.

EV Isolation Method	Detection Method	Number of References	References
Protein Organic Solvent Precipitation	R SequencingMass spectrometry	1	32384937

Sequence, Structure & Domains

Sequences

Length

438

Mass

47,623

Sequence

MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS

Alternative Products

Event=Alternative splicing; Named isoforms=7; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13286-1; Sequence=Displayed; Name=2; IsoId=Q13286-2; Sequence=VSP_004166; Name=3; IsoId=Q13286-3; Sequence=VSP_004167; Name=4; IsoId=Q13286-4; Sequence=VSP_004168; Name=5; IsoId=Q13286-5; Sequence=VSP_004169, VSP_004170; Name=6; IsoId=Q13286-6; Sequence=VSP_047631, VSP_047632; Name=7; IsoId=Q13286-7; Sequence=VSP_057347

Alternative Sequence

75..98; Missing (in isoform 7); 99..127; AVLLADILPTLVIKLLAPLGLHLLPYSPR -> PPGSRQWDLCCWKLRPGCLFSFCGDQPVC (in isoform 6); 128..226; Missing (in isoform 6); 155..264; Missing (in isoform 5); 178..225; Missing (in isoform 2); 280..302; GLLWYIVPLVVVYFAEYFINQGL -> VRMMAG (in isoform 3); 322..438; Missing (in isoform 4); 353..438; CLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS -> MESRSVAQAGM (in isoform 5)

3D Structural Models

Domain & Motif Annotations

Motif

242..244; Lysosomal targeting motif; 253..254; Lysosomal targeting motif. Required for AP1G1, AP2A2 and AP3D1 interaction; 409..419; Lysosomal targeting motif

Domain (CC)

The C-terminal (153-438) mediates KCNIP3 interaction and the cytoprotective activity (PubMed:17189291). the dileucine motif mediates AP1G1 and AP3D1 interaction (PubMed:15598649).

Region

1..25; Disordered; 237..268; Disordered

Protein Families

Battenin family

Sequence Similarities

Belongs to the battenin family.

Clinical Relevance

Disease Involvement

Disease variantNeurodegenerationNeuronal ceroid lipofuscinosis

Related Diseases

Lysosomal disease

Biomarker

Phase 1/2

Antibody

HPA063280