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Aliases for CLN5 Gene

Aliases for CLN5 Gene

  • Ceroid-Lipofuscinosis, Neuronal 5 2 3 5
  • Ceroid-Lipofuscinosis Neuronal Protein 5 3
  • Protein CLN5 4
  • NCL 3

External Ids for CLN5 Gene

Previous GeneCards Identifiers for CLN5 Gene

  • GC13P075532
  • GC13P071559
  • GC13P076501
  • GC13P075362
  • GC13P076462
  • GC13P077564
  • GC13P058263

Summaries for CLN5 Gene

Entrez Gene Summary for CLN5 Gene

  • This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]

GeneCards Summary for CLN5 Gene

CLN5 (Ceroid-Lipofuscinosis, Neuronal 5) is a Protein Coding gene. Diseases associated with CLN5 include Ceroid Lipofuscinosis, Neuronal, 5 and Ceroid Lipofuscinosis, Neuronal, 6. Among its related pathways are Lysosome. GO annotations related to this gene include mannose binding. An important paralog of this gene is ENSG00000283208.

UniProtKB/Swiss-Prot for CLN5 Gene

  • Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).

Gene Wiki entry for CLN5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLN5 Gene

Genomics for CLN5 Gene

Regulatory Elements for CLN5 Gene

Enhancers for CLN5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F076011 0.7 ENCODE 29.6 -978.3 -978284 2.4 ZFP64 ZNF140 ZNF101 ZNF791 ZNF433 ZNF202 ZBTB11 REST ZBTB8A ZNF781 CLN5 LMO7-AS1 COMMD6 LMO7DN LINC01034 LINC00561
GH13F076990 1.1 ENCODE 13.6 +2.1 2082 3.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 DEK FBXL3 CLN5 ENSG00000283208 MYCBP2-AS1
GH13F077324 0.6 FANTOM5 ENCODE 12.9 +335.6 335645 3.1 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CLN5 MYCBP2-AS2 MYCBP2 FBXL3 KCTD12 GC13P077273
GH13F077696 0.4 ENCODE 12.5 +707.2 707171 3.5 HDGF PKNOX1 ZNF76 SIN3A FEZF1 GLIS2 EGR1 ZNF366 SCRT2 ZNF143 CLN5 FBXL3 RPL31P54 SLAIN1 LOC100129307
GH13F076820 0.2 ENCODE 10.8 -169.8 -169808 1.4 CTCF ZNF26 NR2F2 KCTD12 CLN5 FBXL3 LOC105370265
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CLN5 on UCSC Golden Path with GeneCards custom track

Promoters for CLN5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000056063 1740 2001 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 DEK NFYC

Genomic Location for CLN5 Gene

Chromosome:
13
Start:
76,990,660 bp from pter
End:
77,019,143 bp from pter
Size:
28,484 bases
Orientation:
Plus strand

Genomic View for CLN5 Gene

Genes around CLN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLN5 Gene

Proteins for CLN5 Gene

  • Protein details for CLN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75503-CLN5_HUMAN
    Recommended name:
    Ceroid-lipofuscinosis neuronal protein 5
    Protein Accession:
    O75503
    Secondary Accessions:
    • B3KQK7

    Protein attributes for CLN5 Gene

    Size:
    358 amino acids
    Molecular mass:
    41497 Da
    Quaternary structure:
    • Interacts with SORT1, RAB5A and RAB7A (PubMed:22431521). Interacts with PPT1, TPP1, CLN3, CLN6, CLN8, ATP5A1 and ATP5B (By similarity).
    SequenceCaution:
    • Sequence=AAC27614.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for CLN5 Gene

Post-translational modifications for CLN5 Gene

  • Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652).
  • Ceroid-lipofuscinosis neuronal protein 5: The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5, secreted form) (PubMed:24038957, PubMed:20052765).
  • N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes.
  • Ubiquitination at Lys 65 and Lys 105
  • Glycosylation at Asn 130, Asn 143, Asn 178, Asn 203, Asn 255, Asn 271, Asn 281, and Asn 352
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLN5 Gene

Domains & Families for CLN5 Gene

Protein Domains for CLN5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLN5 Gene

Graphical View of Domain Structure for InterPro Entry

O75503

UniProtKB/Swiss-Prot:

CLN5_HUMAN :
  • Belongs to the CLN5 family.
Family:
  • Belongs to the CLN5 family.
genes like me logo Genes that share domains with CLN5: view

No data available for Gene Families for CLN5 Gene

Function for CLN5 Gene

Molecular function for CLN5 Gene

GENATLAS Biochemistry:
putative lysosomal membrane protein,ubiquitously expressed,in adult and fetal tissues
UniProtKB/Swiss-Prot Function:
Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane (PubMed:22431521).

Gene Ontology (GO) - Molecular Function for CLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12134079
GO:0005537 mannose binding IDA 16399764
genes like me logo Genes that share ontologies with CLN5: view
genes like me logo Genes that share phenotypes with CLN5: view

Human Phenotype Ontology for CLN5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLN5 Gene

MGI Knock Outs for CLN5:

Animal Model Products

miRNA for CLN5 Gene

miRTarBase miRNAs that target CLN5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLN5 Gene

Localization for CLN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLN5 Gene

Ceroid-lipofuscinosis neuronal protein 5, secreted form: Lysosome.
Ceroid-lipofuscinosis neuronal protein 5: Membrane; Single-pass type II membrane protein. Note=An amphipathic anchor region facilitates its association with the membrane. {ECO:0000269 PubMed:24038957}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLN5 Gene COMPARTMENTS Subcellular localization image for CLN5 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
lysosome 5
vacuole 5
mitochondrion 3
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 11971870
GO:0005765 lysosomal membrane IDA 12134079
GO:0005783 endoplasmic reticulum IDA 12134079
GO:0005794 Golgi apparatus IDA 12134079
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with CLN5: view

Pathways & Interactions for CLN5 Gene

SuperPathways for CLN5 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with CLN5: view

Pathways by source for CLN5 Gene

1 KEGG pathway for CLN5 Gene

Gene Ontology (GO) - Biological Process for CLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006465 signal peptide processing IDA 20052765
GO:0007042 lysosomal lumen acidification IMP 11722572
GO:0007420 brain development IEP 10992246
GO:0022008 neurogenesis IEA,IEP 10992246
GO:0030163 protein catabolic process NAS 10740217
genes like me logo Genes that share ontologies with CLN5: view

No data available for SIGNOR curated interactions for CLN5 Gene

Transcripts for CLN5 Gene

Unigene Clusters for CLN5 Gene

Ceroid-lipofuscinosis, neuronal 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLN5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP1: - - -
SP2:
SP3: - -
SP4: -

Relevant External Links for CLN5 Gene

GeneLoc Exon Structure for
CLN5
ECgene alternative splicing isoforms for
CLN5

Expression for CLN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLN5 Gene

This gene is overexpressed in Vitreous humor (22.3) and Spleen (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLN5 Gene



NURSA nuclear receptor signaling pathways regulating expression of CLN5 Gene:

CLN5

SOURCE GeneReport for Unigene cluster for CLN5 Gene:

Hs.30213

mRNA Expression by UniProt/SwissProt for CLN5 Gene:

O75503-CLN5_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with CLN5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CLN5 Gene

Orthologs for CLN5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLN5 34 35
  • 98.94 (n)
cow
(Bos Taurus)
Mammalia CLN5 34 35
  • 91.69 (n)
dog
(Canis familiaris)
Mammalia CLN5 34 35
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Cln5 34 16 35
  • 81.9 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564125 34
  • 81.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLN5 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLN5 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLN5 34 35
  • 73.98 (n)
lizard
(Anolis carolinensis)
Reptilia CLN5 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cln5 34
  • 70.57 (n)
zebrafish
(Danio rerio)
Actinopterygii cln5 34 35
  • 61.11 (n)
CLN5 (2 of 2) 35
  • 60 (a)
OneToMany
Species where no ortholog for CLN5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLN5 Gene

ENSEMBL:
Gene Tree for CLN5 (if available)
TreeFam:
Gene Tree for CLN5 (if available)

Paralogs for CLN5 Gene

Paralogs for CLN5 Gene

genes like me logo Genes that share paralogs with CLN5: view

Variants for CLN5 Gene

Sequence variations from dbSNP and Humsavar for CLN5 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs104894386 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731], Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731], Pathogenic 76,995,077(+) CTTCC(A/C/G)TCCAA intron-variant, reference, missense
rs138611001 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731], Benign 77,000,471(+) TTCAA(A/C)CAAAT intron-variant, reference, missense, utr-variant-3-prime
rs147065248 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731] 76,996,034(+) CTTTC(C/T)GGTGT intron-variant, reference, missense
rs148862100 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731], Pathogenic 77,000,866(+) GTTTT(A/G)TAATT intron-variant, reference, missense, utr-variant-3-prime
rs199727787 Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731], Benign 76,992,174(+) CTTCC(C/T)GGTGC downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CLN5 Gene

Variant ID Type Subtype PubMed ID
nsv528367 CNV loss 19592680
nsv832652 CNV gain 17160897
nsv832653 CNV loss 17160897

Variation tolerance for CLN5 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.34; 88.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLN5 Gene

Human Gene Mutation Database (HGMD)
CLN5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLN5 Gene

Disorders for CLN5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CLN5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 5
  • neuronal ceroid lipofuscinosis 5
ceroid lipofuscinosis, neuronal, 6
  • neuronal ceroid lipofuscinosis 6
neuronal ceroid-lipofuscinoses
  • ceroid lipofuscinosis, neuronal, 1
late-infantile neuronal ceroid lipofuscinosis
  • jansky-bielschowsky disease
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards
Search CLN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLN5_HUMAN
  • 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. {ECO:0000269 PubMed:15728307, ECO:0000269 PubMed:16814585, ECO:0000269 PubMed:17607606, ECO:0000269 PubMed:19309691, ECO:0000269 PubMed:20052765, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:24038957, ECO:0000269 PubMed:24058541, ECO:0000269 PubMed:26342652, ECO:0000269 PubMed:9662406}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CLN5 Gene

ceroid-lipofuscinosis,neuronal 5,late infantile,Jansky-Bielschowsky disease variant,characterized by an onset five years motor clumsiness,followed by progressive visual failure with macular and peripheral retinal degeneration,mental and motor deterioration and later by myoclonia and siezures,including the Finnish variant with an onset between 13 or 30 years

Relevant External Links for CLN5

Genetic Association Database (GAD)
CLN5
Human Genome Epidemiology (HuGE) Navigator
CLN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLN5
genes like me logo Genes that share disorders with CLN5: view

Publications for CLN5 Gene

  1. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. (PMID: 20052765) Schmiedt M.L. … KyttAolAo A. (Hum. Mutat. 2010) 3 4 22 64
  2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M. … Lehesjoki A.-E. (Brain 2009) 3 22 46 64
  3. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. (PMID: 19309691) Lebrun A.-H. … Schulz A. (Hum. Mutat. 2009) 3 4 22 64
  4. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (PMID: 17607606) Cannelli N. … Santorelli F.M. (Neuropediatrics 2007) 3 4 22 64
  5. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. (PMID: 16814585) Bessa C. … Ribeiro M.G. (Mol. Genet. Metab. 2006) 3 4 22 64

Products for CLN5 Gene

Sources for CLN5 Gene

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