Q9NWW5 · CLN6_HUMAN
- ProteinCeroid-lipofuscinosis neuronal protein 6
- GeneCLN6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids311 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | early endosome | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum lumen | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | intracellular membrane-bounded organelle | |
Cellular Component | membrane | |
Cellular Component | membrane raft | |
Cellular Component | nucleolus | |
Molecular Function | lysophosphatidic acid binding | |
Molecular Function | protein homodimerization activity | |
Molecular Function | sulfatide binding | |
Biological Process | cholesterol metabolic process | |
Biological Process | ganglioside metabolic process | |
Biological Process | glycosaminoglycan metabolic process | |
Biological Process | locomotion involved in locomotory behavior | |
Biological Process | lysosomal lumen acidification | |
Biological Process | lysosome organization | |
Biological Process | positive regulation of proteolysis | |
Biological Process | protein catabolic process | |
Biological Process | visual perception |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameCeroid-lipofuscinosis neuronal protein 6
- Short namesProtein CLN6
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NWW5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 56-76 | Helical | ||||
Sequence: WVLDFGRPIAMLVFPLEWFPL | ||||||
Transmembrane | 81-101 | Helical | ||||
Sequence: VGDYFHMAYNVITPFLLLKLI | ||||||
Transmembrane | 111-131 | Helical | ||||
Sequence: SITYVSIIIFIMGASIHLVGD | ||||||
Transmembrane | 179-199 | Helical | ||||
Sequence: CMWYIPFFLILFMYFSGCFTA | ||||||
Transmembrane | 204-224 | Helical | ||||
Sequence: SLIPGPALLLVAPSGLYYWYL | ||||||
Transmembrane | 225-245 | Helical | ||||
Sequence: VTEGQIFILFIFTFFAMLALV | ||||||
Transmembrane | 260-280 | Helical | ||||
Sequence: LFLFSSFALTLLLVALWVAWL |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Ceroid lipofuscinosis, neuronal, 6 (CLN6)
- Note
- DescriptionAn autosomal recessive 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.
- See alsoMIM:601780
Natural variants in CLN6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066905 | 17 | G>S | in CLN6; uncertain significance; dbSNP:rs763944821 | |
VAR_021549 | 62 | R>H | in CLN6; dbSNP:rs751486476 | |
VAR_066906 | 90 | N>K | in CLN6 | |
VAR_066907 | 104 | S>F | in CLN6; dbSNP:rs777921628 | |
VAR_015683 | 123 | G>D | in CLN6; dbSNP:rs104894484 | |
VAR_066908 | 149 | R>C | in CLN6; dbSNP:rs747229909 | |
VAR_015684 | 154 | missing | in CLN6 | |
VAR_058436 | 159 | P>L | in CLN6; dbSNP:rs919850756 | |
VAR_066909 | 169 | L>P | in CLN6; dbSNP:rs1344658850 | |
VAR_015685 | 171 | missing | in CLN6; dbSNP:rs121908079 | |
VAR_066910 | 186 | F>S | in CLN6 | |
VAR_058437 | 221 | Y>C | in CLN6; dbSNP:rs764571295 | |
VAR_021551 | 221 | Y>S | in CLN6; dbSNP:rs764571295 | |
VAR_066911 | 234 | F>L | in CLN6; dbSNP:rs959199004 | |
VAR_021552 | 241 | M>T | in CLN6; decreased protein level, resulting from ER membrane-to-cytosol dislocation of the protein followed by proteasome degradation.; dbSNP:rs1555438255 | |
VAR_066912 | 252 | R>H | in CLN6; dbSNP:rs374681194 | |
VAR_066913 | 259 | G>S | in CLN6; dbSNP:rs150363441 | |
VAR_021553 | 265 | missing | in CLN6 | |
VAR_066914 | 297 | P>T | in CLN6; dbSNP:rs1194940137 | |
VAR_021554 | 299 | P>L | in CLN6; dbSNP:rs758921701 | |
VAR_015686 | 300 | W>R | in CLN6; dbSNP:rs750937323 |
Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive (CLN4A)
- Note
- DescriptionAn 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.
- See alsoMIM:204300
Natural variants in CLN4A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065834 | 6 | R>T | in CLN4A; dbSNP:rs154774636 | |
VAR_065836 | 47 | L>F | in CLN4A; dbSNP:rs154774635 | |
VAR_065837 | 67 | L>P | in CLN4A; dbSNP:rs154774633 | |
VAR_065838 | 77 | N>K | in CLN4A; dbSNP:rs154774641 | |
VAR_065839 | 103 | R>Q | in CLN4A; dbSNP:rs154774634 | |
VAR_065840 | 149 | R>H | in CLN4A; dbSNP:rs154774638 | |
VAR_065841 | 238 | F>T | in CLN4A; requires 2 nucleotide substitutions; dbSNP:rs2141136108 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_065834 | 6 | in CLN4A; dbSNP:rs154774636 | |||
Sequence: R → T | ||||||
Natural variant | VAR_066904 | 12 | in dbSNP:rs112239768 | |||
Sequence: A → T | ||||||
Natural variant | VAR_066905 | 17 | in CLN6; uncertain significance; dbSNP:rs763944821 | |||
Sequence: G → S | ||||||
Natural variant | VAR_065835 | 34 | in dbSNP:rs146198681 | |||
Sequence: A → T | ||||||
Natural variant | VAR_065836 | 47 | in CLN4A; dbSNP:rs154774635 | |||
Sequence: L → F | ||||||
Natural variant | VAR_021549 | 62 | in CLN6; dbSNP:rs751486476 | |||
Sequence: R → H | ||||||
Natural variant | VAR_065837 | 67 | in CLN4A; dbSNP:rs154774633 | |||
Sequence: L → P | ||||||
Natural variant | VAR_021550 | 72 | in dbSNP:rs104894483 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_065838 | 77 | in CLN4A; dbSNP:rs154774641 | |||
Sequence: N → K | ||||||
Natural variant | VAR_066906 | 90 | in CLN6 | |||
Sequence: N → K | ||||||
Natural variant | VAR_065839 | 103 | in CLN4A; dbSNP:rs154774634 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_066907 | 104 | in CLN6; dbSNP:rs777921628 | |||
Sequence: S → F | ||||||
Natural variant | VAR_015683 | 123 | in CLN6; dbSNP:rs104894484 | |||
Sequence: G → D | ||||||
Natural variant | VAR_066908 | 149 | in CLN6; dbSNP:rs747229909 | |||
Sequence: R → C | ||||||
Natural variant | VAR_065840 | 149 | in CLN4A; dbSNP:rs154774638 | |||
Sequence: R → H | ||||||
Natural variant | VAR_015684 | 154 | in CLN6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_058436 | 159 | in CLN6; dbSNP:rs919850756 | |||
Sequence: P → L | ||||||
Natural variant | VAR_066909 | 169 | in CLN6; dbSNP:rs1344658850 | |||
Sequence: L → P | ||||||
Natural variant | VAR_015685 | 171 | in CLN6; dbSNP:rs121908079 | |||
Sequence: Missing | ||||||
Natural variant | VAR_066910 | 186 | in CLN6 | |||
Sequence: F → S | ||||||
Natural variant | VAR_058437 | 221 | in CLN6; dbSNP:rs764571295 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_021551 | 221 | in CLN6; dbSNP:rs764571295 | |||
Sequence: Y → S | ||||||
Natural variant | VAR_066911 | 234 | in CLN6; dbSNP:rs959199004 | |||
Sequence: F → L | ||||||
Natural variant | VAR_065841 | 238 | in CLN4A; requires 2 nucleotide substitutions; dbSNP:rs2141136108 | |||
Sequence: F → T | ||||||
Natural variant | VAR_021552 | 241 | in CLN6; decreased protein level, resulting from ER membrane-to-cytosol dislocation of the protein followed by proteasome degradation.; dbSNP:rs1555438255 | |||
Sequence: M → T | ||||||
Natural variant | VAR_066912 | 252 | in CLN6; dbSNP:rs374681194 | |||
Sequence: R → H | ||||||
Natural variant | VAR_066913 | 259 | in CLN6; dbSNP:rs150363441 | |||
Sequence: G → S | ||||||
Natural variant | VAR_021553 | 265 | in CLN6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_066914 | 297 | in CLN6; dbSNP:rs1194940137 | |||
Sequence: P → T | ||||||
Natural variant | VAR_021554 | 299 | in CLN6; dbSNP:rs758921701 | |||
Sequence: P → L | ||||||
Natural variant | VAR_015686 | 300 | in CLN6; dbSNP:rs750937323 | |||
Sequence: W → R | ||||||
Natural variant | VAR_065842 | 308 | in dbSNP:rs143578698 | |||
Sequence: S → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 482 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000089862 | 1-311 | UniProt | Ceroid-lipofuscinosis neuronal protein 6 | |||
Sequence: MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH | |||||||
Modified residue (large scale data) | 23 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 31 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 33 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with CRMP2 (PubMed:19235893).
Interacts with CLN5 (PubMed:19941651).
Interacts with CLN3 (PubMed:17237713).
Interacts with CLN5 (PubMed:19941651).
Interacts with CLN3 (PubMed:17237713).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9NWW5-1
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.
- Name1
- Length311
- Mass (Da)35,919
- Last updated2000-10-01 v1
- ChecksumC718E6F2DC20CE0F
Q9NWW5-2
- Name2
- Differences from canonical
- 1-28: MEATRRRQHLGATGGPGAQLGASFLQAR → MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKK
Computationally mapped potential isoform sequences
There are 14 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0S2Z5D0 | A0A0S2Z5D0_HUMAN | CLN6 | 171 | ||
H3BUV4 | H3BUV4_HUMAN | CLN6 | 213 | ||
H3BUT1 | H3BUT1_HUMAN | CLN6 | 248 | ||
H3BTY4 | H3BTY4_HUMAN | CLN6 | 158 | ||
H3BNF1 | H3BNF1_HUMAN | CLN6 | 105 | ||
A0A1B0GUY3 | A0A1B0GUY3_HUMAN | CLN6 | 103 | ||
A0A1B0GUQ7 | A0A1B0GUQ7_HUMAN | CLN6 | 76 | ||
A0A1B0GUD2 | A0A1B0GUD2_HUMAN | CLN6 | 215 | ||
A0A1B0GU39 | A0A1B0GU39_HUMAN | CLN6 | 67 | ||
A0A1B0GTU6 | A0A1B0GTU6_HUMAN | CLN6 | 251 | ||
A0A1B0GTV3 | A0A1B0GTV3_HUMAN | CLN6 | 108 | ||
A0A1B0GU90 | A0A1B0GU90_HUMAN | CLN6 | 76 | ||
A0A1B0GTD3 | A0A1B0GTD3_HUMAN | CLN6 | 86 | ||
A0A1B0GVR8 | A0A1B0GVR8_HUMAN | CLN6 | 61 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_056197 | 1-28 | in isoform 2 | |||
Sequence: MEATRRRQHLGATGGPGAQLGASFLQAR → MAAVAGKERRARGRPRPETLGAIPRREGGEAGLSRAFKPLAQAPLSCETSLRKLKFKGKK | ||||||
Sequence conflict | 281 | in Ref. 1; BAB55226 | ||||
Sequence: W → R |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK000568 EMBL· GenBank· DDBJ | BAA91260.1 EMBL· GenBank· DDBJ | mRNA | ||
AK027604 EMBL· GenBank· DDBJ | BAB55226.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291175 EMBL· GenBank· DDBJ | BAF83864.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293197 EMBL· GenBank· DDBJ | BAG56737.1 EMBL· GenBank· DDBJ | mRNA | ||
CR457244 EMBL· GenBank· DDBJ | CAG33525.1 EMBL· GenBank· DDBJ | mRNA | ||
AC107871 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471082 EMBL· GenBank· DDBJ | EAW77811.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC010849 EMBL· GenBank· DDBJ | AAH10849.1 EMBL· GenBank· DDBJ | mRNA | ||
BC013130 EMBL· GenBank· DDBJ | AAH13130.1 EMBL· GenBank· DDBJ | mRNA |