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Q9QUK3 (CLN8_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein CLN8
Gene names
Name:Cln8
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length288 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death By similarity.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein By similarity.

Involvement in disease

Defects in Cln8 are the cause of the phenotype motor neuron degeneration (mnd). Mnd is a naturally occurring mutant It is characterized by progressive motor system degeneration. It has intracellular autofluorescent inclusions similar to those seen in human Cln8.

Sequence similarities

Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
   DiseaseNeurodegeneration
Neuronal ceroid lipofuscinosis
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processL-glutamate uptake involved in synaptic transmission

Inferred from mutant phenotype PubMed 8095977PubMed 9600674. Source: MGI

adult locomotory behavior

Inferred from mutant phenotype PubMed 12020865. Source: MGI

adult walking behavior

Inferred from mutant phenotype PubMed 10215924PubMed 2061715PubMed 3783318PubMed 7668363PubMed 7683855PubMed 9918704. Source: MGI

age-dependent response to oxidative stress

Inferred from mutant phenotype PubMed 15213005. Source: MGI

associative learning

Inferred from mutant phenotype PubMed 15885820. Source: MGI

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

cellular macromolecule catabolic process

Inferred from mutant phenotype PubMed 15647513. Source: MGI

cellular protein catabolic process

Inferred from mutant phenotype PubMed 8389815. Source: MGI

cellular protein metabolic process

Inferred from mutant phenotype PubMed 1658691. Source: MGI

ceramide metabolic process

Inferred from sequence or structural similarity. Source: UniProtKB

cholesterol metabolic process

Inferred from sequence or structural similarity. Source: UniProtKB

lysosome organization

Inferred from mutant phenotype PubMed 10087069PubMed 7613514PubMed 8144516PubMed 8160780. Source: MGI

mitochondrial membrane organization

Inferred from mutant phenotype PubMed 9059519. Source: MGI

musculoskeletal movement

Inferred from mutant phenotype PubMed 2061715. Source: MGI

negative regulation of apoptotic process

Inferred from mutant phenotype PubMed 15565184. Source: MGI

negative regulation of transferase activity

Inferred from mutant phenotype PubMed 8873145. Source: MGI

nervous system development

Inferred from sequence or structural similarity. Source: UniProtKB

neurofilament cytoskeleton organization

Inferred from mutant phenotype PubMed 2061715. Source: MGI

neuromuscular process controlling balance

Inferred from mutant phenotype PubMed 9918704. Source: MGI

neuromuscular process controlling posture

Inferred from mutant phenotype PubMed 2061715. Source: MGI

phospholipid metabolic process

Inferred from sequence or structural similarity. Source: UniProtKB

photoreceptor cell maintenance

Inferred from mutant phenotype PubMed 15565184PubMed 9151333. Source: MGI

regulation of cell size

Inferred from mutant phenotype PubMed 15565184. Source: MGI

retina development in camera-type eye

Inferred from mutant phenotype PubMed 15565184PubMed 21052544. Source: MGI

social behavior

Inferred from mutant phenotype PubMed 12020865. Source: MGI

somatic motor neuron differentiation

Inferred from mutant phenotype PubMed 21052544. Source: MGI

spinal cord motor neuron differentiation

Inferred from mutant phenotype PubMed 2061715. Source: MGI

visual perception

Inferred from mutant phenotype PubMed 7668363PubMed 7683855PubMed 8125718PubMed 8282051. Source: MGI

   Cellular_componentendoplasmic reticulum

Inferred from sequence or structural similarity. Source: UniProtKB

endoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

endoplasmic reticulum-Golgi intermediate compartment

Inferred from sequence or structural similarity. Source: UniProtKB

endoplasmic reticulum-Golgi intermediate compartment membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from mutant phenotype PubMed 9059519. Source: GOC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 288288Protein CLN8
PRO_0000185538

Regions

Transmembrane26 – 4621Helical; Potential
Transmembrane71 – 9121Helical; Potential
Transmembrane103 – 12321Helical; Potential
Transmembrane131 – 15121Helical; Potential
Transmembrane225 – 24521Helical; Potential
Domain62 – 262201TLC
Motif285 – 2884ER-retrieval signal

Sequences

Sequence LengthMass (Da)Tools
Q9QUK3 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: A11225DE3CD7DEA5

FASTA28833,109
        10         20         30         40         50         60 
MTPVSSHGLA ESIFDLDYAS WKIRSTLAVA GFVFYLGVFV VCHQLSSSLN ATYRSLAAKE 

        70         80         90        100        110        120 
KVFWNLAATR AVFGVQSTTA GLWALLGDPV LYADKALGQQ NWCWFHITTA TGFFFFENVA 

       130        140        150        160        170        180 
VHLSNLFFRT FDLFLVVHHL FAFLGFLGSA INLRAGHYLA MTTLLLEMST PFTCISWMLL 

       190        200        210        220        230        240 
KAGWSDSLFW KANQWLMIHM FHCRMILTYH MWWVCFCHWD ALTSSLHLPH WALFLFGLAL 

       250        260        270        280 
LTAVINPYWT HKKTQQLLHP VDWNFAQEEA KGSRQERTNG QVPRKKRL 

« Hide

References

« Hide 'large scale' references
[1]"The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8."
Ranta S., Zhang Y., Ross B., Lonka L., Takkunen E., Messer A., Sharp J., Wheeler R., Kusumi K., Mole S., Liu W., Soares M.B., Bonaldo M.F., Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.
Nat. Genet. 23:233-236(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Salivary gland.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF125308 mRNA. Translation: AAF04462.1.
AF125307 mRNA. Translation: AAF04461.1.
BC021625 mRNA. Translation: AAH21625.1.
CCDSCCDS40239.1.
RefSeqNP_036130.1. NM_012000.3.
XP_006508869.1. XM_006508806.1.
XP_006508870.1. XM_006508807.1.
UniGeneMm.254027.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Proteomic databases

PaxDbQ9QUK3.
PRIDEQ9QUK3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000027554; ENSMUSP00000027554; ENSMUSG00000026317.
GeneID26889.
KEGGmmu:26889.
UCSCuc009kze.1. mouse.

Organism-specific databases

CTD2055.
MGIMGI:1349447. Cln8.

Phylogenomic databases

eggNOGNOG239251.
GeneTreeENSGT00390000001315.
HOGENOMHOG000111792.
HOVERGENHBG028338.
InParanoidQ9QUK3.
KOK12360.
OMALTYHMWW.
PhylomeDBQ9QUK3.
TreeFamTF331146.

Gene expression databases

ArrayExpressQ9QUK3.
BgeeQ9QUK3.
CleanExMM_CLN8.
GenevestigatorQ9QUK3.

Family and domain databases

InterProIPR006634. TLC-dom.
[Graphical view]
PfamPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTSM00724. TLC. 1 hit.
[Graphical view]
PROSITEPS50922. TLC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio304715.
PROQ9QUK3.
SOURCESearch...

Entry information

Entry nameCLN8_MOUSE
AccessionPrimary (citable) accession number: Q9QUK3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot