Human Gene CLN6 (ENST00000249806.11) from GENCODE V44
Description: Homo sapiens CLN6 transmembrane ER protein (CLN6), mRNA. (from RefSeq NM_017882) RefSeq Summary (NM_017882): This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. Gencode Transcript: ENST00000249806.11 Gencode Gene: ENSG00000128973.13 Transcript (Including UTRs) Position: hg38 chr15:68,206,992-68,229,728 Size: 22,737 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr15:68,208,140-68,229,584 Size: 21,445 Coding Exon Count: 7
ID:CLN6_HUMAN DESCRIPTION: RecName: Full=Ceroid-lipofuscinosis neuronal protein 6; Short=Protein CLN6; SUBUNIT: Interacts with CRMP2. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]. 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 lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. DISEASE: Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]. An 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. WEB RESOURCE: Name=NCL CLN6; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln6.shtml"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN6";
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9NWW5
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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
