[1]	NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN5 ASN-230, AND VARIANT ARG-319. TISSUE=Fetal brain; DOI=10.1038/975; PubMed=9662406 [NCBI, ExPASy, EBI, Israel, Japan] Savukoski M., Klockars T., Holmberg V., Santavuori P., Lander E.S., Peltonen L.; "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis."; Nat. Genet. 19:286-288(1998).
[2]	SUBCELLULAR LOCATION, AND GLYCOSYLATION. DOI=10.1093/hmg/11.8.885; PubMed=11971870 [NCBI, ExPASy, EBI, Israel, Japan] Isosomppi J., Vesa J., Jalanko A., Peltonen L.; "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein."; Hum. Mol. Genet. 11:885-891(2002).
[3]	VARIANT CLN5 HIS-63. DOI=10.1212/01.WNL.0000151974.44980.F1; PubMed=15728307 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset."; Neurology 64:740-742(2005).
[4]	VARIANTS CLN5 PRO-63 AND ASN-230. DOI=10.1016/j.ymgme.2006.04.010; PubMed=16814585 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency."; Mol. Genet. Metab. 89:245-253(2006).
[5]	VARIANT CLN5 ASP-209. DOI=10.1055/s-2007-981449; PubMed=17607606 [NCBI, ExPASy, EBI, Israel, Japan] 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.; "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis."; Neuropediatrics 38:46-49(2007).

Comments

INTERACTION:
P05787:KRT8; NbExp=1; IntAct=EBI-1043514, EBI-297852;
SUBCELLULAR LOCATION: Lysosome.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Glycosylated.
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.
SIMILARITY: Belongs to the CLN5 family.
WEB RESOURCE: Name=NCL CLN5; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln5.shtml";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=CLN5";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF068227; AAC27614.1; ALT_INIT; mRNA.

[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00026050; -.

NP_006484.1; -.

3D structure databases

ModBase

O75503.

Protein-protein interaction databases

IntAct

O75503; 1.

Organism-specific databases

GC13P076462; -.

HIX0037301; -.

HGNC:2076; CLN5.

256731; phenotype. [NCBI / EBI]
608102; gene. [NCBI / EBI]

Orphanet

216; Ceroid lipofuscinosis, neuronal.
168491; Late infantile neuronal ceroid lipofuscinosis.

PharmGKB

PA26603; -.

Gene expression databases

O75503; -.

O75503; -.

HS_CLN5; -.

ENSG00000102805; Homo sapiens.

Ontologies

GO:0005783;	Cellular component: endoplasmic reticulum (inferred from direct assay from UniProtKB).
GO:0005794;	Cellular component: Golgi apparatus (inferred from direct assay from UniProtKB).
GO:0016021;	Cellular component: integral to membrane (inferred from direct assay from UniProtKB).
GO:0005765;	Cellular component: lysosomal membrane (inferred from direct assay from UniProtKB).
GO:0048471;	Cellular component: perinuclear region of cytoplasm (inferred from direct assay from UniProtKB).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0007420;	Biological process: brain development (inferred from expression pattern from UniProtKB).
GO:0007042;	Biological process: lysosomal lumen acidification (inferred from mutant phenotype from UniProtKB).
GO:0042551;	Biological process: neuron maturation (non-traceable author statement from UniProtKB).
GO:0030163;	Biological process: protein catabolic process (non-traceable author statement from UniProtKB).
QuickGo view.

Proteomic databases

PeptideAtlas

O75503; -.

Genome annotation databases

Ensembl

ENSG00000102805; Homo sapiens. [Contig view]

GeneID

1203; -.

Phylogenomic databases

HOGENOM

O75503; -.

HOVERGEN

O75503; -.

Other

4967; -.

CLN5; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Epilepsy; Glycoprotein; Lysosome; Neuronal ceroid lipofuscinosis; Polymorphism; Signal.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`SIGNAL`	`1 46`	`46`	`Potential.`
`CHAIN`	`47 358`	`312`	`Ceroid-lipofuscinosis neuronal protein 5.`	`PRO_0000089860`
`CARBOHYD`	`130 130`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`143 143`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`178 178`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`203 203`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`255 255`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`271 271`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`281 281`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`352 352`		`N-linked (GlcNAc...) (Potential).`
`VARIANT`	`63 63`	`1`	`R -> H (in CLN5).`	`VAR_042700`
`VARIANT`	`63 63`	`1`	`R -> P (in CLN5).`	`VAR_042702`
`VARIANT`	`209 209`	`1`	`Y -> D (in CLN5).`	`VAR_042701`
`VARIANT`	`230 230`	`1`	`D -> N (in CLN5).`	`VAR_005137`
`VARIANT`	`319 319`	`1`	`K -> R (in dbSNP:rs1800209 [NCBI]).`	`VAR_005138`

Sequence information

Length: 358 AA [This is the length of the unprocessed precursor]

Molecular weight: 41497 Da [This is the MW of the unprocessed precursor]

CRC64: 07E49D4913685190 [This is a checksum on the sequence]

        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

O75503 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools