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Protein

Ceroid-lipofuscinosis neuronal protein 5

Gene

CLN5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • mannose binding Source: UniProtKB

GO - Biological processi

  • brain development Source: UniProtKB
  • glycosylation Source: UniProtKB
  • lysosomal lumen acidification Source: UniProtKB
  • neurogenesis Source: UniProtKB
  • neuron maturation Source: UniProtKB
  • protein catabolic process Source: UniProtKB
  • signal peptide processing Source: UniProtKB
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
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:2076. CLN5.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • lysosomal membrane Source: UniProtKB
  • lysosome Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 5 (CLN5)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256731
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261W → R in CLN5. 1 Publication
Corresponds to variant rs199727787 [ dbSNP | Ensembl ].
VAR_066895
Natural varianti63 – 631R → H in CLN5. 2 Publications
Corresponds to variant rs104894386 [ dbSNP | Ensembl ].
VAR_042700
Natural varianti63 – 631R → P in CLN5. 1 Publication
Corresponds to variant rs104894386 [ dbSNP | Ensembl ].
VAR_042702
Natural varianti77 – 771C → Y in CLN5. 1 Publication
Corresponds to variant rs267606738 [ dbSNP | Ensembl ].
VAR_066896
Natural varianti143 – 1431N → S in CLN5. 1 Publication
Corresponds to variant rs386833975 [ dbSNP | Ensembl ].
VAR_066897
Natural varianti149 – 1491L → P in CLN5. 1 Publication
Corresponds to variant rs386833976 [ dbSNP | Ensembl ].
VAR_066898
Natural varianti156 – 1561P → S in CLN5. 1 Publication
Corresponds to variant rs386833977 [ dbSNP | Ensembl ].
VAR_066899
Natural varianti158 – 1581W → R in CLN5. 1 Publication
Corresponds to variant rs147065248 [ dbSNP | Ensembl ].
VAR_066900
Natural varianti158 – 1581W → S in CLN5. 1 Publication
Corresponds to variant rs386833978 [ dbSNP | Ensembl ].
VAR_066901
Natural varianti193 – 1931N → K in CLN5. 1 Publication
Corresponds to variant rs138611001 [ dbSNP | Ensembl ].
VAR_066902
Natural varianti209 – 2091Y → D in CLN5. 2 Publications
Corresponds to variant rs386833981 [ dbSNP | Ensembl ].
VAR_042701
Natural varianti230 – 2301D → N in CLN5. 2 Publications
Corresponds to variant rs28940280 [ dbSNP | Ensembl ].
VAR_005137
Natural varianti325 – 3251Y → C in CLN5. 1 Publication
Corresponds to variant rs148862100 [ dbSNP | Ensembl ].
VAR_066903
Natural varianti330 – 3301W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication
Corresponds to variant rs386833968 [ dbSNP | Ensembl ].
VAR_059032

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MalaCardsiCLN5.
MIMi256731. phenotype.
Orphaneti228360. CLN5 disease.
PharmGKBiPA26603.

Polymorphism and mutation databases

BioMutaiCLN5.

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

EPDiO75503.
MaxQBiO75503.
PaxDbiO75503.
PeptideAtlasiO75503.
PRIDEiO75503.

PTM databases

iPTMnetiO75503.
PhosphoSiteiO75503.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000102805.
CleanExiHS_CLN5.
ExpressionAtlasiO75503. baseline and differential.
GenevisibleiO75503. HS.

Organism-specific databases

HPAiHPA041788.

Interactioni

Protein-protein interaction databases

BioGridi107614. 43 interactions.
IntActiO75503. 3 interactions.
MINTiMINT-4656296.
STRINGi9606.ENSP00000366673.

Family & Domainsi

Sequence similaritiesi

Belongs to the CLN5 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IJEH. Eukaryota.
ENOG4110RH0. LUCA.
GeneTreeiENSGT00390000010065.
HOGENOMiHOG000060233.
HOVERGENiHBG005345.
InParanoidiO75503.
KOiK12390.
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 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
Corresponds to variant rs199727787 [ dbSNP | Ensembl ].
VAR_066895
Natural varianti63 – 631R → H in CLN5. 2 Publications
Corresponds to variant rs104894386 [ dbSNP | Ensembl ].
VAR_042700
Natural varianti63 – 631R → P in CLN5. 1 Publication
Corresponds to variant rs104894386 [ dbSNP | Ensembl ].
VAR_042702
Natural varianti77 – 771C → Y in CLN5. 1 Publication
Corresponds to variant rs267606738 [ dbSNP | Ensembl ].
VAR_066896
Natural varianti143 – 1431N → S in CLN5. 1 Publication
Corresponds to variant rs386833975 [ dbSNP | Ensembl ].
VAR_066897
Natural varianti149 – 1491L → P in CLN5. 1 Publication
Corresponds to variant rs386833976 [ dbSNP | Ensembl ].
VAR_066898
Natural varianti156 – 1561P → S in CLN5. 1 Publication
Corresponds to variant rs386833977 [ dbSNP | Ensembl ].
VAR_066899
Natural varianti158 – 1581W → R in CLN5. 1 Publication
Corresponds to variant rs147065248 [ dbSNP | Ensembl ].
VAR_066900
Natural varianti158 – 1581W → S in CLN5. 1 Publication
Corresponds to variant rs386833978 [ dbSNP | Ensembl ].
VAR_066901
Natural varianti193 – 1931N → K in CLN5. 1 Publication
Corresponds to variant rs138611001 [ dbSNP | Ensembl ].
VAR_066902
Natural varianti209 – 2091Y → D in CLN5. 2 Publications
Corresponds to variant rs386833981 [ dbSNP | Ensembl ].
VAR_042701
Natural varianti219 – 2191E → A.
Corresponds to variant rs11842935 [ dbSNP | Ensembl ].
VAR_059031
Natural varianti230 – 2301D → N in CLN5. 2 Publications
Corresponds to variant rs28940280 [ dbSNP | Ensembl ].
VAR_005137
Natural varianti319 – 3191K → R.1 Publication
Corresponds to variant rs1800209 [ dbSNP | Ensembl ].
VAR_005138
Natural varianti325 – 3251Y → C in CLN5. 1 Publication
Corresponds to variant rs148862100 [ dbSNP | Ensembl ].
VAR_066903
Natural varianti330 – 3301W → C in CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome. 1 Publication
Corresponds to variant rs386833968 [ dbSNP | Ensembl ].
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.
UCSCiuc058xoc.1. 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.
RefSeqiNP_006484.1. NM_006493.2.
UniGeneiHs.30213.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107614. 43 interactions.
IntActiO75503. 3 interactions.
MINTiMINT-4656296.
STRINGi9606.ENSP00000366673.

PTM databases

iPTMnetiO75503.
PhosphoSiteiO75503.

Polymorphism and mutation databases

BioMutaiCLN5.

Proteomic databases

EPDiO75503.
MaxQBiO75503.
PaxDbiO75503.
PeptideAtlasiO75503.
PRIDEiO75503.

Protocols and materials databases

DNASUi1203.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000616833; ENSP00000479547; ENSG00000102805.
GeneIDi1203.
KEGGihsa:1203.
UCSCiuc058xoc.1. human.

Organism-specific databases

CTDi1203.
GeneCardsiCLN5.
GeneReviewsiCLN5.
HGNCiHGNC:2076. CLN5.
HPAiHPA041788.
MalaCardsiCLN5.
MIMi256731. phenotype.
608102. gene.
neXtProtiNX_O75503.
Orphaneti228360. CLN5 disease.
PharmGKBiPA26603.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEH. Eukaryota.
ENOG4110RH0. LUCA.
GeneTreeiENSGT00390000010065.
HOGENOMiHOG000060233.
HOVERGENiHBG005345.
InParanoidiO75503.
KOiK12390.
PhylomeDBiO75503.
TreeFamiTF330864.

Miscellaneous databases

ChiTaRSiCLN5. human.
GeneWikiiCLN5.
GenomeRNAii1203.
PROiO75503.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102805.
CleanExiHS_CLN5.
ExpressionAtlasiO75503. baseline and differential.
GenevisibleiO75503. HS.

Family and domain databases

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

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: September 7, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.