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MOUSE:CLN8

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Cln8
Protein Name(s) Protein CLN8
External Links
UniProt Q9QUK3
EMBL AF125308
AF125307
BC021625
CCDS CCDS40239.1
RefSeq NP_036130.1
XP_006508869.1
XP_006508870.1
UniGene Mm.254027
MaxQB Q9QUK3
PaxDb Q9QUK3
PRIDE Q9QUK3
Ensembl ENSMUST00000027554
GeneID 26889
KEGG mmu:26889
UCSC uc009kze.1
CTD 2055
MGI MGI:1349447
eggNOG NOG239251
GeneTree ENSGT00390000001315
HOGENOM HOG000111792
HOVERGEN HBG028338
InParanoid Q9QUK3
KO K12360
OMA LTYHMWW
PhylomeDB Q9QUK3
TreeFam TF331146
NextBio 304715
PRO PR:Q9QUK3
Proteomes UP000000589
Bgee Q9QUK3
CleanEx MM_CLN8
ExpressionAtlas Q9QUK3
Genevestigator Q9QUK3
GO GO:0005783
GO:0005789
GO:0005793
GO:0033116
GO:0016021
GO:0005739
GO:0008344
GO:0007628
GO:0001306
GO:0008306
GO:0044265
GO:0044257
GO:0044267
GO:0006672
GO:0008203
GO:0051935
GO:0007040
GO:0007006
GO:0050881
GO:0043066
GO:0051348
GO:0007399
GO:0060052
GO:0050885
GO:0050884
GO:0006644
GO:0045494
GO:0008361
GO:0060041
GO:0035176
GO:0021523
GO:0021522
GO:0007601
InterPro IPR006634
Pfam PF03798
SMART SM00724
PROSITE PS50922

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0051179

localization

PMID:23142642[1]

ECO:0000314

P

Figure 5 shows the co-localization of CLN8 with the VAPA protein.

complete
CACAO 5775

GO:0051179

localization

PMID:23142642[1]

ECO:0000314

P

Figure 5 shows the co-localization of CLN8 with the GATE16 protein.

complete
CACAO 5776

GO:0045184

establishment of protein localization

PMID:23142642[1]

ECO:0000314

P

Figure 6. Co-localization of CLN8 and VAPA in the adult mouse CNS tissues.

complete
CACAO 6821

part_of

GO:0005783

endoplasmic reticulum

PMID:19941651[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0008203

cholesterol metabolic process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

involved_in

GO:0007399

nervous system development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

involved_in

GO:0006672

ceramide metabolic process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

involved_in

GO:0006644

phospholipid metabolic process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

part_of

GO:0005793

endoplasmic reticulum-Golgi intermediate compartment

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9UBY8

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060052

neurofilament cytoskeleton organization

PMID:2061715[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:17577)
  • occurs_in:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060041

retina development in camera-type eye

PMID:21052544[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060041

retina development in camera-type eye

PMID:15565184[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051935

glutamate reuptake

PMID:9600674[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

occurs_in:(EMAPA:17577)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051935

glutamate reuptake

PMID:8095977[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

occurs_in:(EMAPA:17577)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050885

neuromuscular process controlling balance

PMID:9918704[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050884

neuromuscular process controlling posture

PMID:2061715[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050881

musculoskeletal movement

PMID:2061715[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045494

photoreceptor cell maintenance

PMID:9151333[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045494

photoreceptor cell maintenance

PMID:15565184[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0044267

cellular protein metabolic process

PMID:1658691[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:17577)
  • occurs_in:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0044265

cellular macromolecule catabolic process

PMID:15647513[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0044257

cellular protein catabolic process

PMID:8389815[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:17577)
  • occurs_in:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0043066

negative regulation of apoptotic process

PMID:15565184[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • regulates_o_occurs_in:(EMAPA:17168)
  • regulates_o_occurs_in:(CL:0000740)|regulates_o_occurs_in:(EMAPA:17168)
  • regulates_o_occurs_in:(CL:0000604)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035176

social behavior

PMID:12020865[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021523

somatic motor neuron differentiation

PMID:21052544[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021522

spinal cord motor neuron differentiation

PMID:2061715[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:17577)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008361

regulation of cell size

PMID:15565184[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • regulates_o_occurs_in:(EMAPA:17168)
  • regulates_o_occurs_in:(CL:0000740)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008344

adult locomotory behavior

PMID:12020865[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008306

associative learning

PMID:15885820[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008203

cholesterol metabolic process

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:9918704[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:7683855[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:7668363[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:3783318[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:2061715[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:10215924[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007601

visual perception

PMID:8282051[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

has_participant:(EMAPA:17168)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007601

visual perception

PMID:8125718[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

has_participant:(EMAPA:17168)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007601

visual perception

PMID:7683855[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007601

visual perception

PMID:7668363[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

has_participant:(EMAPA:17168)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007399

nervous system development

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007040

lysosome organization

PMID:8160780[21]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:35915)
  • occurs_in:(CL:0000117)|occurs_in:(EMAPA:32845)
  • occurs_in:(CL:0000117)|occurs_in:(EMAPA:32767)
  • occurs_in:(CL:0000117)|occurs_in:(EMAPA:17577)
  • occurs_in:(CL:0000117)|occurs_in:(EMAPA:17168)
  • occurs_in:(CL:0000117)|occurs_in:(EMAPA:18234)|occurs_in:(EMAPA:32688)|occurs_in:(EMAPA:16846)|occurs_in:(EMAPA:17373)|occurs_in:(EMAPA:17503)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007040

lysosome organization

PMID:8144516[22]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

occurs_in:(EMAPA:16894)|occurs_in:(EMAPA:17373)|occurs_in:(EMAPA:16846)|occurs_in:(EMAPA:16105)|occurs_in:(EMAPA:17503)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007040

lysosome organization

PMID:7613514[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

occurs_in:(CL:0000057)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007040

lysosome organization

PMID:10087069[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:32845)
  • occurs_in:(CL:0000099)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007006

mitochondrial membrane organization

PMID:9059519[25]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

occurs_in:(EMAPA:16846)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006672

ceramide metabolic process

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006644

phospholipid metabolic process

PMID:9245501[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

  • occurs_in:(EMAPA:16846)
  • occurs_in:(CL:0000182)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006644

phospholipid metabolic process

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

P

Seeded From UniProt

complete

part_of

GO:0005793

endoplasmic reticulum-Golgi intermediate compartment

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9UBY8

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001306

age-dependent response to oxidative stress

PMID:15213005[27]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856959

P

has_participant:(EMAPA:17168)

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0007006

C

Seeded From UniProt

complete

part_of

GO:0098793

presynapse

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0051935

C

Seeded From UniProt

complete

part_of

GO:0098793

presynapse

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0051935

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR006634

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0256
UniProtKB-SubCell:SL-0095

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0005789

endoplasmic reticulum membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0097

C

Seeded From UniProt

complete

part_of

GO:0033116

endoplasmic reticulum-Golgi intermediate compartment membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0099

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Passantino, R et al. (2013) Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1833 529-40 PubMed GONUTS page
  2. ↑ Lyly, A et al. (2009) Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. BMC Cell Biol. 10 83 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Callahan, LM et al. (1991) Neurofilament distribution is altered in the Mnd (motor neuron degeneration) mouse. J. Neuropathol. Exp. Neurol. 50 491-504 PubMed GONUTS page
  4. ↑ 4.0 4.1 Won, J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011 391384 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 5.3 Seigel, GM et al. (2005) Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis. Eye (Lond) 19 1306-12 PubMed GONUTS page
  6. ↑ Mennini, T et al. (1998) Spinal cord GLT-1 glutamate transporter and blood glutamic acid alterations in motor neuron degeneration (Mnd) mice. J. Neurol. Sci. 157 31-6 PubMed GONUTS page
  7. ↑ Battaglioli, G et al. (1993) Synaptosomal glutamate uptake declines progressively in the spinal cord of a mutant mouse with motor neuron disease. J. Neurochem. 60 1567-9 PubMed GONUTS page
  8. ↑ 8.0 8.1 Boyce, S et al. (1999) Onset and progression of motor deficits in motor neuron degeneration (mnd) mice are unaltered by the glycine/NMDA receptor antagonist L-701,324 or the MAO-B inhibitor R(-)-deprenyl. Exp. Neurol. 155 49-58 PubMed GONUTS page
  9. ↑ Bennett, MJ et al. (1997) In-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological course. Neuropediatrics 28 82-4 PubMed GONUTS page
  10. ↑ Mazurkiewicz, JE (1991) Ubiquitin deposits are present in spinal motor neurons in all stages of the disease in the motor neuron degeneration (Mnd) mutant of the mouse. Neurosci. Lett. 128 182-6 PubMed GONUTS page
  11. ↑ Cho, SK et al. (2005) Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology 15 637-48 PubMed GONUTS page
  12. ↑ Mazurkiewicz, JE et al. (1993) Cytoplasmic inclusions in spinal neurons of the motor neuron degeneration (Mnd) mouse. I. Light microscopic analysis. J. Neurol. Sci. 116 59-66 PubMed GONUTS page
  13. ↑ 13.0 13.1 Bolivar, VJ et al. (2002) The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse. Brain Res. 937 74-82 PubMed GONUTS page
  14. ↑ Wendt, KD et al. (2005) Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav. Brain Res. 161 175-82 PubMed GONUTS page
  15. ↑ 15.0 15.1 Bronson, RT et al. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann. Neurol. 33 381-5 PubMed GONUTS page
  16. ↑ 16.0 16.1 Messer, A et al. (1995) Genetics of primary and timing effects in the mnd mouse. Am. J. Med. Genet. 57 361-4 PubMed GONUTS page
  17. ↑ Messer, A & Flaherty, L (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J. Neurogenet. 3 345-55 PubMed GONUTS page
  18. ↑ Mennini, T et al. (1999) Biochemical and pharmacological evidence of a functional role of AMPA receptors in motor neuron dysfunction in mnd mice. Eur. J. Neurosci. 11 1705-10 PubMed GONUTS page
  19. ↑ Messer, A et al. (1993) Retinal degeneration in motor neuron degeneration (mnd) mutant mice. Exp. Eye Res. 57 637-41 PubMed GONUTS page
  20. ↑ Chang, B et al. (1994) Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis. Invest. Ophthalmol. Vis. Sci. 35 1071-6 PubMed GONUTS page
  21. ↑ Pardo, CA et al. (1994) Accumulation of the adenosine triphosphate synthase subunit C in the mnd mutant mouse. A model for neuronal ceroid lipofuscinosis. Am. J. Pathol. 144 829-35 PubMed GONUTS page
  22. ↑ Faust, JR et al. (1994) Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J. Biol. Chem. 269 10150-5 PubMed GONUTS page
  23. ↑ Tanner, A & Dice, JF (1995) Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9. Cell Biol. Int. 19 71-5 PubMed GONUTS page
  24. ↑ Cooper, JD et al. (1999) Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J. Neurosci. 19 2556-67 PubMed GONUTS page
  25. ↑ Vance, JE et al. (1997) Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1344 286-99 PubMed GONUTS page
  26. ↑ Porter, JC et al. (1997) The motor neuron degeneration (mnd) gene acts intrinsically in motor neurons and peripheral fibroblasts. Mol. Cell. Neurosci. 9 185-93 PubMed GONUTS page
  27. ↑ Guarneri, R et al. (2004) Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis. Brain Res. 1014 209-20 PubMed GONUTS page