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Q9QUK3

- CLN8_MOUSE

UniProt

Q9QUK3 - CLN8_MOUSE

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Protein

Protein CLN8

Gene

Cln8

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

  1. adult locomotory behavior Source: MGI
  2. adult walking behavior Source: MGI
  3. age-dependent response to oxidative stress Source: MGI
  4. associative learning Source: MGI
  5. cell death Source: UniProtKB-KW
  6. cellular macromolecule catabolic process Source: MGI
  7. cellular protein catabolic process Source: MGI
  8. cellular protein metabolic process Source: MGI
  9. ceramide metabolic process Source: UniProtKB
  10. cholesterol metabolic process Source: UniProtKB
  11. L-glutamate uptake involved in synaptic transmission Source: MGI
  12. lysosome organization Source: MGI
  13. mitochondrial membrane organization Source: MGI
  14. musculoskeletal movement Source: MGI
  15. negative regulation of apoptotic process Source: MGI
  16. negative regulation of transferase activity Source: MGI
  17. nervous system development Source: UniProtKB
  18. neurofilament cytoskeleton organization Source: MGI
  19. neuromuscular process controlling balance Source: MGI
  20. neuromuscular process controlling posture Source: MGI
  21. phospholipid metabolic process Source: UniProtKB
  22. photoreceptor cell maintenance Source: MGI
  23. regulation of cell size Source: MGI
  24. retina development in camera-type eye Source: MGI
  25. social behavior Source: MGI
  26. somatic motor neuron differentiation Source: MGI
  27. spinal cord motor neuron differentiation Source: MGI
  28. visual perception Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CLN8
Gene namesi
Name:Cln8
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 8

Organism-specific databases

MGIiMGI:1349447. Cln8.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  3. integral component of membrane Source: UniProtKB-KW
  4. mitochondrion Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Neurodegeneration, Neuronal ceroid lipofuscinosis

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 288288Protein CLN8PRO_0000185538Add
BLAST

Proteomic databases

MaxQBiQ9QUK3.
PaxDbiQ9QUK3.
PRIDEiQ9QUK3.

Expressioni

Gene expression databases

BgeeiQ9QUK3.
CleanExiMM_CLN8.
ExpressionAtlasiQ9QUK3. baseline and differential.
GenevestigatoriQ9QUK3.

Structurei

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei26 – 4621HelicalSequence AnalysisAdd
BLAST
Transmembranei71 – 9121HelicalSequence AnalysisAdd
BLAST
Transmembranei103 – 12321HelicalSequence AnalysisAdd
BLAST
Transmembranei131 – 15121HelicalSequence AnalysisAdd
BLAST
Transmembranei225 – 24521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 262201TLCPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi285 – 2884ER-retrieval signal

Sequence similaritiesi

Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG239251.
GeneTreeiENSGT00390000001315.
HOGENOMiHOG000111792.
HOVERGENiHBG028338.
InParanoidiQ9QUK3.
KOiK12360.
OMAiLTYHMWW.
PhylomeDBiQ9QUK3.
TreeFamiTF331146.

Family and domain databases

InterProiIPR006634. TLC-dom.
[Graphical view]
PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
PROSITEiPS50922. TLC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9QUK3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTPVSSHGLA ESIFDLDYAS WKIRSTLAVA GFVFYLGVFV VCHQLSSSLN
60 70 80 90 100
ATYRSLAAKE KVFWNLAATR AVFGVQSTTA GLWALLGDPV LYADKALGQQ
110 120 130 140 150
NWCWFHITTA TGFFFFENVA VHLSNLFFRT FDLFLVVHHL FAFLGFLGSA
160 170 180 190 200
INLRAGHYLA MTTLLLEMST PFTCISWMLL KAGWSDSLFW KANQWLMIHM
210 220 230 240 250
FHCRMILTYH MWWVCFCHWD ALTSSLHLPH WALFLFGLAL LTAVINPYWT
260 270 280
HKKTQQLLHP VDWNFAQEEA KGSRQERTNG QVPRKKRL
Length:288
Mass (Da):33,109
Last modified:May 1, 2000 - v1
Checksum:iA11225DE3CD7DEA5
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF125308 mRNA. Translation: AAF04462.1.
AF125307 mRNA. Translation: AAF04461.1.
BC021625 mRNA. Translation: AAH21625.1.
CCDSiCCDS40239.1.
RefSeqiNP_036130.1. NM_012000.3.
XP_006508869.1. XM_006508806.1.
XP_006508870.1. XM_006508807.1.
UniGeneiMm.254027.

Genome annotation databases

EnsembliENSMUST00000027554; ENSMUSP00000027554; ENSMUSG00000026317.
GeneIDi26889.
KEGGimmu:26889.
UCSCiuc009kze.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF125308 mRNA. Translation: AAF04462.1 .
AF125307 mRNA. Translation: AAF04461.1 .
BC021625 mRNA. Translation: AAH21625.1 .
CCDSi CCDS40239.1.
RefSeqi NP_036130.1. NM_012000.3.
XP_006508869.1. XM_006508806.1.
XP_006508870.1. XM_006508807.1.
UniGenei Mm.254027.

3D structure databases

ModBasei Search...
MobiDBi Search...

Proteomic databases

MaxQBi Q9QUK3.
PaxDbi Q9QUK3.
PRIDEi Q9QUK3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000027554 ; ENSMUSP00000027554 ; ENSMUSG00000026317 .
GeneIDi 26889.
KEGGi mmu:26889.
UCSCi uc009kze.1. mouse.

Organism-specific databases

CTDi 2055.
MGIi MGI:1349447. Cln8.

Phylogenomic databases

eggNOGi NOG239251.
GeneTreei ENSGT00390000001315.
HOGENOMi HOG000111792.
HOVERGENi HBG028338.
InParanoidi Q9QUK3.
KOi K12360.
OMAi LTYHMWW.
PhylomeDBi Q9QUK3.
TreeFami TF331146.

Miscellaneous databases

NextBioi 304715.
PROi Q9QUK3.
SOURCEi Search...

Gene expression databases

Bgeei Q9QUK3.
CleanExi MM_CLN8.
ExpressionAtlasi Q9QUK3. baseline and differential.
Genevestigatori Q9QUK3.

Family and domain databases

InterProi IPR006634. TLC-dom.
[Graphical view ]
Pfami PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view ]
SMARTi SM00724. TLC. 1 hit.
[Graphical view ]
PROSITEi PS50922. TLC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiCLN8_MOUSE
AccessioniPrimary (citable) accession number: Q9QUK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3