MitoProteome Database

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MT000125

UniProt Annotations

Entry Information

Gene Name	ceroid-lipofuscinosis, neuronal 3
Protein Entry
UniProt ID	Q2TA70
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=6; 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; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q13286-5; Sequence=VSP_004169, VSP_004170; Name=6; IsoId=Q13286-6; Sequence=VSP_047631, VSP_047632;
Disease	Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: A 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. {ECO:0000269\|PubMed:21990111, ECO:0000269\|PubMed:9311735, ECO:0000269\|PubMed:9490299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. {ECO:0000269\|PubMed:22261744}.
Ptm	Farnesylation is important for trafficking to lysosomes.
Ptm	Highly glycosylated. {ECO:0000269\|PubMed:17286803}.
Similarity	Belongs to the battenin family. {ECO:0000305}.
Subcellular Location	Lysosome membrane {ECO:0000269\|PubMed:17286803, ECO:0000269\|PubMed:17897319}; Multi- pass membrane protein {ECO:0000269\|PubMed:17286803, ECO:0000269\|PubMed:17897319}. Late endosome {ECO:0000269\|PubMed:17286803}.
Subunit	Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP. {ECO:0000269\|PubMed:22261744}.
Web Resource	Name=Mutations of the CLN3 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cln3mut.htm";
Web Resource	Name=NCL CLN3; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln3.shtml";