Property Summary

NCBI Gene PubMed Count 33
PubMed Score 57.92
PubTator Score 66.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
hepatocellular carcinoma 1.300 1.0e-04
pancreatic cancer 1.200 4.4e-03
psoriasis -1.300 1.6e-07
osteosarcoma -1.894 4.9e-05
posterior fossa group B ependymoma 1.800 2.6e-09
glioblastoma 1.400 1.2e-02
medulloblastoma, large-cell -1.200 9.1e-05
tuberculosis and treatment for 6 months -1.300 7.0e-05
intraductal papillary-mucinous adenoma (... 1.100 1.5e-02
lung cancer -1.400 5.5e-03
pilocytic astrocytoma 1.300 9.2e-09
pancreatic carcinoma 1.200 4.4e-03
Pick disease 1.400 3.0e-05
Breast cancer -1.100 2.9e-07
invasive ductal carcinoma -1.400 2.8e-03
ulcerative colitis -1.100 6.0e-03
ovarian cancer -2.200 7.0e-07

 GO Function (1)

Gene RIF (18)

PMID Text
26342652 Two forms of CLN5, derived from the C-terminal proteolytic processing, are present in most cells and tissues.
25359263 findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders
24058541 There are functional differences in various N-glycosylation sites of CLN5 which affect folding, trafficking, and lysosomal function of CLN5.
23160995 This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2.
22431521 a role for CLN5 in controlling the itinerary of the lysosomal sorting receptors by regulating retromer recruitment at the endosome
20157158 CLN5 mutations are 1) more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) found in patients of broad ethnic diversity, and 3) can be identified in patients with disease onset in adult and juvenile epochs
20157158 Observational study of gene-disease association. (HuGE Navigator)
20052765 analysis of mutations in neuronal ceroid lipofuscinosis protein CLN5
19941651 Study found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8.
19309691 Double immunofluorescence microscopy showed that while the wild-type CLN5 protein is localized in lysosomes, both mutant CLN5 proteins are retained in the endoplasmic reticulum rather than reaching the lysosome.
19201763 Observational study of gene-disease association. (HuGE Navigator)
19174516 In cultures of brain microvascular endothelial cells, VEGF-A specifically down-regulated CLN-5 and OCLN protein and mRNA
17607606 Reports two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset.
16814585 The CLN5/mRNA expression level reduced to 45% supports the existence of one mRNA non-producing allele, further noticeable at the protein level.
15728307 A novel missense mutation in CLN5 was found in a Colombian family with juvenile-onset neuronal ceroid lipofuscinosis: c. 1627G>A causing Arg112His.
12134079 Data show that three neuronal ceroid lipofuscinoses disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins
12125809 juvenile and variant late infantile neuronal ceroid lipofuscinoses have mutated CLN genes encoding lysosomal proteins (review)
11971870 biosynthesis and intracellular localization of this protein

AA Sequence

MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYC      1 - 70
QAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQ     71 - 140
LGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYE    141 - 210
TWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTG    211 - 280
NKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPI    281 - 350
RNKTLSGL                                                                  351 - 358
//

Text Mined References (34)

PMID Year Title
26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
25359263 2015 Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
25158072 2015 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23160995 2012 CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
22431521 2012 The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
19941651 2009 Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
19309691 2009 Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
19174516 2009 VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.
17607606 2007 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16814585 2006 Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
16399764 2006 Identification of sites of mannose 6-phosphorylation on lysosomal proteins.
15728307 2005 A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14997939 2004 The genetic spectrum of human neuronal ceroid-lipofuscinoses.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12134079 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
12125809 2002 Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.
11971870 2002 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
11722572 2001 Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).
10992246 2000 CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain.
10740217 2000 Batten's disease: clues to neuronal protein catabolism in lysosomes.
10477428 1999 Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
9662406 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
8661106 1996 Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.
7942847 1994 Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
193610 1977 The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.