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O75503

- CLN5_HUMAN

UniProt

O75503 - CLN5_HUMAN

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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

Functioni

GO - Molecular functioni

  1. mannose 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
Complete GO annotation...

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. extracellular vesicular exosome Source: UniProtKB
  3. Golgi apparatus Source: UniProtKB
  4. integral component of membrane Source: UniProtKB
  5. lysosomal membrane Source: UniProtKB
  6. lysosome Source: UniProtKB
  7. perinuclear region of cytoplasm Source: UniProtKB
  8. vacuolar lumen Source: Ensembl
Complete GO annotation...

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

BgeeiO75503.
CleanExiHS_CLN5.
ExpressionAtlasiO75503. baseline and differential.
GenevestigatoriO75503.

Organism-specific databases

HPAiHPA041788.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi107614. 44 interactions.
IntActiO75503. 3 interactions.
MINTiMINT-4656296.
STRINGi9606.ENSP00000366673.

Family & Domainsi

Sequence similaritiesi

Belongs to the CLN5 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG45312.
GeneTreeiENSGT00390000010065.
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

        10         20         30         40         50
MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR
60 70 80 90 100
RHWPVPYKRF DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP
110 120 130 140 150
VWEFKYGDLL GHLKIMHDAI GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR
160 170 180 190 200
PEMDAPFWCN QGAACFFEGI DDVHWKENGT LVQVATISGN MFNQMAKWVK
210 220 230 240 250
QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN KLAEFGAEFK
260 270 280 290 300
NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP
310 320 330 340 350
TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI

RNKTLSGL
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.Curated

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:
EMBLi
GenBanki
DDBJi
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

EnsembliENST00000616833; ENSP00000479547; 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:
EMBLi
GenBanki
DDBJi
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. 44 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 ENST00000616833 ; ENSP00000479547 ; 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.
GeneTreei ENSGT00390000010065.
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

Bgeei O75503.
CleanExi HS_CLN5.
ExpressionAtlasi O75503. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 119 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