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Q9QUK3

- CLN8_MOUSE

UniProt

Q9QUK3 - CLN8_MOUSE

Protein

Protein CLN8

Gene

Cln8

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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

    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. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
    4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: UniProtKB-KW
    6. mitochondrion Source: GOC

    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

    PaxDbiQ9QUK3.
    PRIDEiQ9QUK3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9QUK3.
    BgeeiQ9QUK3.
    CleanExiMM_CLN8.
    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

    MTPVSSHGLA ESIFDLDYAS WKIRSTLAVA GFVFYLGVFV VCHQLSSSLN    50
    ATYRSLAAKE KVFWNLAATR AVFGVQSTTA GLWALLGDPV LYADKALGQQ 100
    NWCWFHITTA TGFFFFENVA VHLSNLFFRT FDLFLVVHHL FAFLGFLGSA 150
    INLRAGHYLA MTTLLLEMST PFTCISWMLL KAGWSDSLFW KANQWLMIHM 200
    FHCRMILTYH MWWVCFCHWD ALTSSLHLPH WALFLFGLAL LTAVINPYWT 250
    HKKTQQLLHP VDWNFAQEEA KGSRQERTNG QVPRKKRL 288
    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

    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

    ArrayExpressi Q9QUK3.
    Bgeei Q9QUK3.
    CleanExi MM_CLN8.
    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

    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 1, 2014
    This is version 105 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