ID:CLN3_HUMAN DESCRIPTION: RecName: Full=Battenin; AltName: Full=Batten disease protein; AltName: Full=Protein CLN3; FUNCTION: Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. SUBUNIT: Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP. SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Late endosome. PTM: Highly glycosylated. PTM: Farnesylation is important for trafficking to lysosomes. DISEASE: Defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]; also known as Batten disease. 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 CLN3. SIMILARITY: Belongs to the battenin family. WEB RESOURCE: Name=NCL CLN3; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln3.shtml"; 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=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on Q13286
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
