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Q9NWW5

- CLN6_HUMAN

UniProt

Q9NWW5 - CLN6_HUMAN

Protein

Ceroid-lipofuscinosis neuronal protein 6

Gene

CLN6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. cellular macromolecule catabolic process Source: Ensembl
    3. cholesterol metabolic process Source: UniProtKB
    4. ganglioside metabolic process Source: UniProtKB
    5. glycosaminoglycan metabolic process Source: UniProtKB
    6. locomotion involved in locomotory behavior Source: Ensembl
    7. lysosomal lumen acidification Source: UniProtKB
    8. positive regulation of proteolysis Source: UniProtKB
    9. protein catabolic process Source: UniProtKB
    10. visual perception Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceroid-lipofuscinosis neuronal protein 6
    Short name:
    Protein CLN6
    Gene namesi
    Name:CLN6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:2077. CLN6.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum lumen Source: UniProtKB
    3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB
    5. intracellular membrane-bounded organelle Source: HPA
    6. membrane Source: UniProtKB
    7. nucleus Source: HPA

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]: A 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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121A → T in CLN6. 1 Publication
    VAR_066904
    Natural varianti17 – 171G → S in CLN6. 1 Publication
    VAR_066905
    Natural varianti62 – 621R → H in CLN6. 1 Publication
    VAR_021549
    Natural varianti72 – 721E → Q in CLN6. 1 Publication
    Corresponds to variant rs104894483 [ dbSNP | Ensembl ].
    VAR_021550
    Natural varianti90 – 901N → K in CLN6. 1 Publication
    VAR_066906
    Natural varianti104 – 1041S → F in CLN6. 1 Publication
    VAR_066907
    Natural varianti123 – 1231G → D in CLN6. 1 Publication
    Corresponds to variant rs28939384 [ dbSNP | Ensembl ].
    VAR_015683
    Natural varianti149 – 1491R → C in CLN6. 1 Publication
    VAR_066908
    Natural varianti154 – 1541Missing in CLN6. 1 Publication
    VAR_015684
    Natural varianti159 – 1591P → L in CLN6. 1 Publication
    VAR_058436
    Natural varianti169 – 1691L → P in CLN6. 1 Publication
    VAR_066909
    Natural varianti171 – 1711Missing in CLN6. 1 Publication
    VAR_015685
    Natural varianti186 – 1861F → S in CLN6. 1 Publication
    VAR_066910
    Natural varianti221 – 2211Y → C in CLN6. 1 Publication
    VAR_058437
    Natural varianti221 – 2211Y → S in CLN6. 1 Publication
    VAR_021551
    Natural varianti234 – 2341F → L in CLN6. 2 Publications
    VAR_066911
    Natural varianti241 – 2411M → T in CLN6. 1 Publication
    VAR_021552
    Natural varianti252 – 2521R → H in CLN6. 1 Publication
    VAR_066912
    Natural varianti259 – 2591G → S in CLN6. 1 Publication
    VAR_066913
    Natural varianti265 – 2651Missing in CLN6. 2 Publications
    VAR_021553
    Natural varianti297 – 2971P → T in CLN6. 1 Publication
    VAR_066914
    Natural varianti299 – 2991P → L in CLN6. 1 Publication
    VAR_021554
    Natural varianti300 – 3001W → R in CLN6. 1 Publication
    VAR_015686
    Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → T in CLN4A. 1 Publication
    VAR_065834
    Natural varianti47 – 471L → F in CLN4A. 1 Publication
    VAR_065836
    Natural varianti67 – 671L → P in CLN4A. 1 Publication
    VAR_065837
    Natural varianti77 – 771N → K in CLN4A. 1 Publication
    VAR_065838
    Natural varianti103 – 1031R → Q in CLN4A. 1 Publication
    VAR_065839
    Natural varianti149 – 1491R → H in CLN4A. 1 Publication
    VAR_065840
    Natural varianti238 – 2381F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication
    VAR_065841

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

    Organism-specific databases

    MIMi204300. phenotype.
    601780. phenotype.
    Orphaneti228340. CLN4A disease.
    228363. CLN6 disease.
    PharmGKBiPA26604.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 311311Ceroid-lipofuscinosis neuronal protein 6PRO_0000089862Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei31 – 311Phosphoserine3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NWW5.
    PaxDbiQ9NWW5.
    PRIDEiQ9NWW5.

    PTM databases

    PhosphoSiteiQ9NWW5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NWW5.
    BgeeiQ9NWW5.
    CleanExiHS_CLN6.
    GenevestigatoriQ9NWW5.

    Organism-specific databases

    HPAiHPA043388.

    Interactioni

    Subunit structurei

    Interacts with CRMP2.1 Publication

    Protein-protein interaction databases

    BioGridi120318. 7 interactions.
    IntActiQ9NWW5. 3 interactions.
    STRINGi9606.ENSP00000249806.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NWW5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei56 – 7621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei81 – 10121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei204 – 22421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei225 – 24521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei260 – 28021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG27962.
    HOVERGENiHBG039396.
    InParanoidiQ9NWW5.
    KOiK12359.
    OrthoDBiEOG70S764.
    PhylomeDBiQ9NWW5.
    TreeFamiTF333294.

    Family and domain databases

    InterProiIPR029255. CLN6.
    [Graphical view]
    PfamiPF15156. CLN6. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NWW5-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY    50
    FTLQNWVLDF GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL 100
    IERSPRTLPR SITYVSIIIF IMGASIHLVG DSVNHRLLFS GYQHHLSVRE 150
    NPIIKNLKPE TLIDSFELLY YYDEYLGHCM WYIPFFLILF MYFSGCFTAS 200
    KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA MLALVLHQKR 250
    KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW 300
    AFYTLHVSSR H 311
    Length:311
    Mass (Da):35,919
    Last modified:October 1, 2000 - v1
    Checksum:iC718E6F2DC20CE0F
    GO
    Isoform 2 (identifier: Q9NWW5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-28: MEATRRRQHLGATGGPGAQLGASFLQAR → MAAVAGKERR...LRKLKFKGKK

    Note: No experimental confirmation available.

    Show »
    Length:343
    Mass (Da):39,484
    Checksum:i861D47B5F541CDB0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti281 – 2811W → R in BAB55226. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → T in CLN4A. 1 Publication
    VAR_065834
    Natural varianti12 – 121A → T in CLN6. 1 Publication
    VAR_066904
    Natural varianti17 – 171G → S in CLN6. 1 Publication
    VAR_066905
    Natural varianti34 – 341A → T.1 Publication
    VAR_065835
    Natural varianti47 – 471L → F in CLN4A. 1 Publication
    VAR_065836
    Natural varianti62 – 621R → H in CLN6. 1 Publication
    VAR_021549
    Natural varianti67 – 671L → P in CLN4A. 1 Publication
    VAR_065837
    Natural varianti72 – 721E → Q in CLN6. 1 Publication
    Corresponds to variant rs104894483 [ dbSNP | Ensembl ].
    VAR_021550
    Natural varianti77 – 771N → K in CLN4A. 1 Publication
    VAR_065838
    Natural varianti90 – 901N → K in CLN6. 1 Publication
    VAR_066906
    Natural varianti103 – 1031R → Q in CLN4A. 1 Publication
    VAR_065839
    Natural varianti104 – 1041S → F in CLN6. 1 Publication
    VAR_066907
    Natural varianti123 – 1231G → D in CLN6. 1 Publication
    Corresponds to variant rs28939384 [ dbSNP | Ensembl ].
    VAR_015683
    Natural varianti149 – 1491R → C in CLN6. 1 Publication
    VAR_066908
    Natural varianti149 – 1491R → H in CLN4A. 1 Publication
    VAR_065840
    Natural varianti154 – 1541Missing in CLN6. 1 Publication
    VAR_015684
    Natural varianti159 – 1591P → L in CLN6. 1 Publication
    VAR_058436
    Natural varianti169 – 1691L → P in CLN6. 1 Publication
    VAR_066909
    Natural varianti171 – 1711Missing in CLN6. 1 Publication
    VAR_015685
    Natural varianti186 – 1861F → S in CLN6. 1 Publication
    VAR_066910
    Natural varianti221 – 2211Y → C in CLN6. 1 Publication
    VAR_058437
    Natural varianti221 – 2211Y → S in CLN6. 1 Publication
    VAR_021551
    Natural varianti234 – 2341F → L in CLN6. 2 Publications
    VAR_066911
    Natural varianti238 – 2381F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication
    VAR_065841
    Natural varianti241 – 2411M → T in CLN6. 1 Publication
    VAR_021552
    Natural varianti252 – 2521R → H in CLN6. 1 Publication
    VAR_066912
    Natural varianti259 – 2591G → S in CLN6. 1 Publication
    VAR_066913
    Natural varianti265 – 2651Missing in CLN6. 2 Publications
    VAR_021553
    Natural varianti297 – 2971P → T in CLN6. 1 Publication
    VAR_066914
    Natural varianti299 – 2991P → L in CLN6. 1 Publication
    VAR_021554
    Natural varianti300 – 3001W → R in CLN6. 1 Publication
    VAR_015686
    Natural varianti308 – 3081S → T.1 Publication
    Corresponds to variant rs143578698 [ dbSNP | Ensembl ].
    VAR_065842

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2828MEATR…FLQAR → MAAVAGKERRARGRPRPETL GAIPRREGGEAGLSRAFKPL AQAPLSCETSLRKLKFKGKK in isoform 2. 1 PublicationVSP_056197Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000568 mRNA. Translation: BAA91260.1.
    AK027604 mRNA. Translation: BAB55226.1.
    AK291175 mRNA. Translation: BAF83864.1.
    AK293197 mRNA. Translation: BAG56737.1.
    CR457244 mRNA. Translation: CAG33525.1.
    AC107871 Genomic DNA. No translation available.
    CH471082 Genomic DNA. Translation: EAW77811.1.
    BC010849 mRNA. Translation: AAH10849.1.
    BC013130 mRNA. Translation: AAH13130.1.
    CCDSiCCDS10227.1.
    RefSeqiNP_060352.1. NM_017882.2.
    UniGeneiHs.584921.

    Genome annotation databases

    EnsembliENST00000249806; ENSP00000249806; ENSG00000128973.
    ENST00000538696; ENSP00000445770; ENSG00000128973.
    GeneIDi54982.
    KEGGihsa:54982.
    UCSCiuc002arf.3. human.

    Polymorphism databases

    DMDMi32129457.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NCL CLN6

    Neural Ceroid Lipofuscinoses mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000568 mRNA. Translation: BAA91260.1 .
    AK027604 mRNA. Translation: BAB55226.1 .
    AK291175 mRNA. Translation: BAF83864.1 .
    AK293197 mRNA. Translation: BAG56737.1 .
    CR457244 mRNA. Translation: CAG33525.1 .
    AC107871 Genomic DNA. No translation available.
    CH471082 Genomic DNA. Translation: EAW77811.1 .
    BC010849 mRNA. Translation: AAH10849.1 .
    BC013130 mRNA. Translation: AAH13130.1 .
    CCDSi CCDS10227.1.
    RefSeqi NP_060352.1. NM_017882.2.
    UniGenei Hs.584921.

    3D structure databases

    ProteinModelPortali Q9NWW5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120318. 7 interactions.
    IntActi Q9NWW5. 3 interactions.
    STRINGi 9606.ENSP00000249806.

    PTM databases

    PhosphoSitei Q9NWW5.

    Polymorphism databases

    DMDMi 32129457.

    Proteomic databases

    MaxQBi Q9NWW5.
    PaxDbi Q9NWW5.
    PRIDEi Q9NWW5.

    Protocols and materials databases

    DNASUi 54982.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249806 ; ENSP00000249806 ; ENSG00000128973 .
    ENST00000538696 ; ENSP00000445770 ; ENSG00000128973 .
    GeneIDi 54982.
    KEGGi hsa:54982.
    UCSCi uc002arf.3. human.

    Organism-specific databases

    CTDi 54982.
    GeneCardsi GC15M068499.
    GeneReviewsi CLN6.
    HGNCi HGNC:2077. CLN6.
    HPAi HPA043388.
    MIMi 204300. phenotype.
    601780. phenotype.
    606725. gene.
    neXtProti NX_Q9NWW5.
    Orphaneti 228340. CLN4A disease.
    228363. CLN6 disease.
    PharmGKBi PA26604.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG27962.
    HOVERGENi HBG039396.
    InParanoidi Q9NWW5.
    KOi K12359.
    OrthoDBi EOG70S764.
    PhylomeDBi Q9NWW5.
    TreeFami TF333294.

    Miscellaneous databases

    ChiTaRSi CLN6. human.
    GeneWikii CLN6.
    GenomeRNAii 54982.
    NextBioi 58254.
    PROi Q9NWW5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NWW5.
    Bgeei Q9NWW5.
    CleanExi HS_CLN6.
    Genevestigatori Q9NWW5.

    Family and domain databases

    InterProi IPR029255. CLN6.
    [Graphical view ]
    Pfami PF15156. CLN6. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Adrenal gland.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT CLN6 LEU-234.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Lung and Urinary bladder.
    6. "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein."
      Mole S.E., Michaux G., Codlin S., Wheeler R.B., Sharp J.D., Cutler D.F.
      Exp. Cell Res. 298:399-406(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2."
      Benedict J.W., Getty A.L., Wishart T.M., Gillingwater T.H., Pearce D.A.
      J. Neurosci. Res. 87:2157-2166(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CRMP2.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse."
      Gao H., Boustany R.-M.N., Espinola J.A., Cotman S.L., Srinidhi L., Antonellis K.A., Gillis T., Qin X., Liu S., Donahue L.R., Bronson R.T., Faust J.R., Stout D., Haines J.L., Lerner T.J., MacDonald M.E.
      Am. J. Hum. Genet. 70:324-335(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CLN6 TYR-171 DEL.
    16. "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein."
      Wheeler R.B., Sharp J.D., Schultz R.A., Joslin J.M., Williams R.E., Mole S.E.
      Am. J. Hum. Genet. 70:537-542(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN6 ASP-123 AND ILE-154 DEL.
    17. Cited for: VARIANT CLN6 ARG-300.
    18. "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis."
      Sharp J.D., Wheeler R.B., Parker K.A., Gardiner R.M., Williams R.E., Mole S.E.
      Hum. Mutat. 22:35-42(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN6 HIS-62; GLN-72; SER-221; THR-241; SER-265 DEL AND LEU-299.
    19. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
      Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E., Lehesjoki A.-E.
      Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN6 LEU-159; CYS-221 AND SER-265 DEL.
    20. Cited for: VARIANTS CLN4A THR-6; PHE-47; PRO-67; LYS-77; GLN-103; HIS-149 AND THR-238, VARIANTS THR-34 AND THR-308.
    21. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
      Kousi M., Lehesjoki A.E., Mole S.E.
      Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN6 THR-12; SER-17; LYS-90; PHE-104; CYS-149; PRO-169; SER-186; LEU-234; HIS-252; SER-259 AND THR-297.

    Entry informationi

    Entry nameiCLN6_HUMAN
    AccessioniPrimary (citable) accession number: Q9NWW5
    Secondary accession number(s): A8K560
    , B4DDH6, Q6IAB1, Q96SR0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 16, 2003
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

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