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O75503

- CLN5_HUMAN

UniProt

O75503 - CLN5_HUMAN

Protein

Ceroid-lipofuscinosis neuronal protein 5

Gene

CLN5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (29 Apr 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. mannose binding Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: UniProtKB
    2. cell death Source: UniProtKB-KW
    3. glycosylation Source: UniProtKB
    4. lysosomal lumen acidification Source: UniProtKB
    5. neurogenesis Source: UniProtKB
    6. neuron maturation Source: UniProtKB
    7. protein catabolic process Source: UniProtKB
    8. signal peptide processing Source: UniProtKB
    9. visual perception Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceroid-lipofuscinosis neuronal protein 5
    Short name:
    Protein CLN5
    Gene namesi
    Name:CLN5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:2076. CLN5.

    Subcellular locationi

    Lysosome 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. Golgi apparatus Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. lysosomal membrane Source: UniProtKB
    5. lysosome Source: UniProtKB
    6. perinuclear region of cytoplasm Source: UniProtKB
    7. vacuolar lumen Source: Ensembl

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]: 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 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261W → R in CLN5. 1 Publication
    VAR_066895
    Natural varianti63 – 631R → H in CLN5. 2 Publications
    VAR_042700
    Natural varianti63 – 631R → P in CLN5. 1 Publication
    VAR_042702
    Natural varianti77 – 771C → Y in CLN5. 1 Publication
    VAR_066896
    Natural varianti143 – 1431N → S in CLN5. 1 Publication
    VAR_066897
    Natural varianti149 – 1491L → P in CLN5. 1 Publication
    VAR_066898
    Natural varianti156 – 1561P → S in CLN5. 1 Publication
    VAR_066899
    Natural varianti158 – 1581W → R in CLN5. 1 Publication
    VAR_066900
    Natural varianti158 – 1581W → S in CLN5. 1 Publication
    VAR_066901
    Natural varianti193 – 1931N → K in CLN5. 1 Publication
    VAR_066902
    Natural varianti209 – 2091Y → D in CLN5. 2 Publications
    VAR_042701
    Natural varianti230 – 2301D → N in CLN5. 2 Publications
    VAR_005137
    Natural varianti325 – 3251Y → C in CLN5. 1 Publication
    VAR_066903
    Natural varianti330 – 3301W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication
    VAR_059032

    Keywords - Diseasei

    Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

    Organism-specific databases

    MIMi256731. phenotype.
    Orphaneti228360. CLN5 disease.
    PharmGKBiPA26603.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4646Sequence AnalysisAdd
    BLAST
    Chaini47 – 358312Ceroid-lipofuscinosis neuronal protein 5PRO_0000089860Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi130 – 1301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi143 – 1431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi203 – 2031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi255 – 2551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi271 – 2711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi281 – 2811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi352 – 3521N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO75503.
    PaxDbiO75503.
    PeptideAtlasiO75503.
    PRIDEiO75503.

    PTM databases

    PhosphoSiteiO75503.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiO75503.
    BgeeiO75503.
    CleanExiHS_CLN5.
    GenevestigatoriO75503.

    Organism-specific databases

    HPAiHPA041788.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    KRT8P057871EBI-1043514,EBI-297852

    Protein-protein interaction databases

    BioGridi107614. 36 interactions.
    IntActiO75503. 3 interactions.
    MINTiMINT-4656296.
    STRINGi9606.ENSP00000366673.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CLN5 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG45312.
    HOGENOMiHOG000060233.
    HOVERGENiHBG005345.
    InParanoidiO75503.
    KOiK12390.
    OrthoDBiEOG77DJ65.
    PhylomeDBiO75503.
    TreeFamiTF330864.

    Family and domain databases

    InterProiIPR026138. CLN5.
    [Graphical view]
    PANTHERiPTHR15380. PTHR15380. 1 hit.
    PfamiPF15014. CLN5. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O75503-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR    50
    RHWPVPYKRF DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP 100
    VWEFKYGDLL GHLKIMHDAI GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR 150
    PEMDAPFWCN QGAACFFEGI DDVHWKENGT LVQVATISGN MFNQMAKWVK 200
    QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN KLAEFGAEFK 250
    NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP 300
    TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI 350
    RNKTLSGL 358
    Length:358
    Mass (Da):41,497
    Last modified:April 29, 2008 - v2
    Checksum:i07E49D4913685190
    GO

    Sequence cautioni

    The sequence AAC27614.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti57 – 571Y → C in BAG52069. (PubMed:14702039)Curated
    Sequence conflicti92 – 921I → T in BAG52069. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261W → R in CLN5. 1 Publication
    VAR_066895
    Natural varianti63 – 631R → H in CLN5. 2 Publications
    VAR_042700
    Natural varianti63 – 631R → P in CLN5. 1 Publication
    VAR_042702
    Natural varianti77 – 771C → Y in CLN5. 1 Publication
    VAR_066896
    Natural varianti143 – 1431N → S in CLN5. 1 Publication
    VAR_066897
    Natural varianti149 – 1491L → P in CLN5. 1 Publication
    VAR_066898
    Natural varianti156 – 1561P → S in CLN5. 1 Publication
    VAR_066899
    Natural varianti158 – 1581W → R in CLN5. 1 Publication
    VAR_066900
    Natural varianti158 – 1581W → S in CLN5. 1 Publication
    VAR_066901
    Natural varianti193 – 1931N → K in CLN5. 1 Publication
    VAR_066902
    Natural varianti209 – 2091Y → D in CLN5. 2 Publications
    VAR_042701
    Natural varianti219 – 2191E → A.
    Corresponds to variant rs11842935 [ dbSNP | Ensembl ].
    VAR_059031
    Natural varianti230 – 2301D → N in CLN5. 2 Publications
    VAR_005137
    Natural varianti319 – 3191K → R.1 Publication
    Corresponds to variant rs1800209 [ dbSNP | Ensembl ].
    VAR_005138
    Natural varianti325 – 3251Y → C in CLN5. 1 Publication
    VAR_066903
    Natural varianti330 – 3301W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication
    VAR_059032

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF068227 mRNA. Translation: AAC27614.1. Different initiation.
    AK075109 mRNA. Translation: BAG52069.1.
    AC001226 Genomic DNA. No translation available.
    RefSeqiNP_006484.1. NM_006493.2.
    UniGeneiHs.30213.

    Genome annotation databases

    EnsembliENST00000377453; ENSP00000366673; ENSG00000102805.
    GeneIDi1203.
    KEGGihsa:1203.
    UCSCiuc001vkc.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NCL CLN5

    Neural Ceroid Lipofuscinoses mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF068227 mRNA. Translation: AAC27614.1 . Different initiation.
    AK075109 mRNA. Translation: BAG52069.1 .
    AC001226 Genomic DNA. No translation available.
    RefSeqi NP_006484.1. NM_006493.2.
    UniGenei Hs.30213.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107614. 36 interactions.
    IntActi O75503. 3 interactions.
    MINTi MINT-4656296.
    STRINGi 9606.ENSP00000366673.

    PTM databases

    PhosphoSitei O75503.

    Proteomic databases

    MaxQBi O75503.
    PaxDbi O75503.
    PeptideAtlasi O75503.
    PRIDEi O75503.

    Protocols and materials databases

    DNASUi 1203.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377453 ; ENSP00000366673 ; ENSG00000102805 .
    GeneIDi 1203.
    KEGGi hsa:1203.
    UCSCi uc001vkc.3. human.

    Organism-specific databases

    CTDi 1203.
    GeneCardsi GC13P077564.
    GeneReviewsi CLN5.
    HGNCi HGNC:2076. CLN5.
    HPAi HPA041788.
    MIMi 256731. phenotype.
    608102. gene.
    neXtProti NX_O75503.
    Orphaneti 228360. CLN5 disease.
    PharmGKBi PA26603.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45312.
    HOGENOMi HOG000060233.
    HOVERGENi HBG005345.
    InParanoidi O75503.
    KOi K12390.
    OrthoDBi EOG77DJ65.
    PhylomeDBi O75503.
    TreeFami TF330864.

    Miscellaneous databases

    ChiTaRSi CLN5. human.
    GeneWikii CLN5.
    GenomeRNAii 1203.
    NextBioi 35469383.
    PROi O75503.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75503.
    Bgeei O75503.
    CleanExi HS_CLN5.
    Genevestigatori O75503.

    Family and domain databases

    InterProi IPR026138. CLN5.
    [Graphical view ]
    PANTHERi PTHR15380. PTHR15380. 1 hit.
    Pfami PF15014. CLN5. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis."
      Savukoski M., Klockars T., Holmberg V., Santavuori P., Lander E.S., Peltonen L.
      Nat. Genet. 19:286-288(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN5 ASN-230, VARIANT ARG-319.
      Tissue: Fetal brain.
    2. "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].
      Tissue: Placenta.
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein."
      Isosomppi J., Vesa J., Jalanko A., Peltonen L.
      Hum. Mol. Genet. 11:885-891(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
    5. Cited for: VARIANT CLN5 HIS-63.
    6. "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency."
      Bessa C., Teixeira C.A., Mangas M., Dias A., Sa Miranda M.C., Guimaraes A., Ferreira J.C., Canas N., Cabral P., Ribeiro M.G.
      Mol. Genet. Metab. 89:245-253(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CLN5 PRO-63 AND ASN-230.
    7. Cited for: VARIANT CLN5 ASP-209.
    8. "Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship."
      Lebrun A.-H., Storch S., Rueschendorf F., Schmiedt M.-L., Kyttaelae A., Mole S.E., Kitzmueller C., Saar K., Mewasingh L.D., Boda V., Kohlschuetter A., Ullrich K., Braulke T., Schulz A.
      Hum. Mutat. 30:E651-E661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CLN5 CYS-330, CHARACTERIZATION OF VARIANT CLN5 CYS-330.
    9. "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 CLN5 ARG-26; HIS-63; TYR-77; SER-143; PRO-149; SER-156; ARG-158; SER-158; LYS-193; ASP-209 AND CYS-325.

    Entry informationi

    Entry nameiCLN5_HUMAN
    AccessioniPrimary (citable) accession number: O75503
    Secondary accession number(s): B3KQK7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: April 29, 2008
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 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 13
      Human chromosome 13: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3