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Reviewed, UniProtKB/Swiss-Prot O75503 (CLN5_HUMAN)

Last modified November 25, 2008. Version 63. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Ceroid-lipofuscinosis neuronal protein 5
      Short name=Protein CLN5
Gene names
Name: CLN5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length358 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Subcellular location

Lysosome.

Tissue specificity

Ubiquitous.

Post-translational modification

Glycosylated.

Involvement in disease

Defects in CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures.

Sequence similarities

Belongs to the CLN5 family.

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

KRT8P057871EBI-1043514,EBI-297852

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4646 Potential
Chain47 – 358312Ceroid-lipofuscinosis neuronal protein 5
PRO_0000089860

Amino acid modifications

Glycosylation1301N-linked (GlcNAc...) Potential
Glycosylation1431N-linked (GlcNAc...) Potential
Glycosylation1781N-linked (GlcNAc...) Potential
Glycosylation2031N-linked (GlcNAc...) Potential
Glycosylation2551N-linked (GlcNAc...) Potential
Glycosylation2711N-linked (GlcNAc...) Potential
Glycosylation2811N-linked (GlcNAc...) Potential
Glycosylation3521N-linked (GlcNAc...) Potential

Natural variations

Natural variant631R → H in CLN5.
VAR_042700
Natural variant631R → P in CLN5.
VAR_042702
Natural variant2091Y → D in CLN5.
VAR_042701
Natural variant2301D → N in CLN5.
VAR_005137
Natural variant3191K → R: dbSNP rs1800209.
VAR_005138

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Sequences

Sequence LengthMass (Da)Tools
O75503-1 [UniParc].

Last modified April 29, 2008. Version 2.
Checksum: 07E49D4913685190

FASTA35841,497
        10         20         30         40         50         60 
MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR RHWPVPYKRF 

        70         80         90        100        110        120 
DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP VWEFKYGDLL GHLKIMHDAI 

       130        140        150        160        170        180 
GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR PEMDAPFWCN QGAACFFEGI DDVHWKENGT 

       190        200        210        220        230        240 
LVQVATISGN MFNQMAKWVK QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN 

       250        260        270        280        290        300 
KLAEFGAEFK NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP 

       310        320        330        340        350 
TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI RNKTLSGL

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References

[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: 9662406] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN5 ASN-230, VARIANT ARG-319.
Tissue: Fetal brain.
[2]"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: 11971870] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
[3]"A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset."
Pineda-Trujillo N., Cornejo W., Carrizosa J., Wheeler R.B., Munera S., Valencia A., Agudelo-Arango J., Cogollo A., Anderson G., Bedoya G., Mole S.E., Ruiz-Linares A.
Neurology 64:740-742(2005) [PubMed: 15728307] [Abstract]
Cited for: VARIANT CLN5 HIS-63.
[4]"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: 16814585] [Abstract]
Cited for: VARIANTS CLN5 PRO-63 AND ASN-230.
[5]"Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis."
Cannelli N., Nardocci N., Cassandrini D., Morbin M., Aiello C., Bugiani M., Criscuolo L., Zara F., Striano P., Granata T., Bertini E., Simonati A., Santorelli F.M.
Neuropediatrics 38:46-49(2007) [PubMed: 17607606] [Abstract]
Cited for: VARIANT CLN5 ASP-209.

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Web resources

NCL CLN5

Neural Ceroid Lipofuscinoses mutation db

GeneReviews

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Cross-references

Sequence databases

AF068227 mRNA. Translation: AAC27614.1. Different initiation.
UniGeneHs.30213

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO75503.

Proteomic databases

PeptideAtlasO75503.

Genome annotation databases

EnsemblENSG00000102805. Homo sapiens. [Contig view]
KEGGhsa:1203.

Organism-specific databases

H-InvDBHIX0037301.
HGNCHGNC:2076. CLN5.
MIM256731. phenotype.
608102. gene.
Orphanet216. Ceroid lipofuscinosis, neuronal.
79266. Late infantile neuronal ceroid lipofuscinosis, finnish variant (CLN5).
PharmGKBPA26603.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMO75503.
HOVERGENO75503.

Gene expression databases

ArrayExpressO75503.
CleanExHS_CLN5.
GermOnlineENSG00000102805. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other Resources

NextBio4967.
SOURCESearch...

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Entry information

Entry nameCLN5_HUMAN
AccessionPrimary (citable) accession number: O75503
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 29, 2008
Last modified: November 25, 2008
This is version 63 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents