Property Summary

NCBI Gene PubMed Count 86
Grant Count 159
R01 Count 122
Funding $21,949,469.72
PubMed Score 901.70
PubTator Score 251.87

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q13286 B2R7J1 B4DXL3 O00668 O95089 Q549S9 Q9UP09 Q9UP11 Q9UP12 Q9UP13 Q9UP14
Symbols BTS
BTN1
JNCL

Gene

 GO Function (1)

 GWAS Trait (1)

Gene RIF (50)

PMID Text
26299671 CLN3 knockdown inhibits cell proliferation and induces G0/G1 cell cycle arrest in the A2780 cell line and its drug-resistant sub-lines.
25878248 These results further support an important role for the CLN3 protein in intracellular Ca(2+) handling and in autophagic pathway flux and establish a powerful new platform for therapeutic screening.
25496667 Genome-wide shRNA screening identifies CLN3, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells
25338278 The eyes and vision of heterozygous carriers of CLN3 disease showed normal features when compared to a control group, which controverts a previously suggested retinal dysfunction in these subjects.
25330233 This new model system, which allows for the study of Cln3 function in both single cells and a multicellular organism, together with the observation that expression of human CLN3 restores abnormalities in Dictyostelium cln3- cells
25051496 The membrane topology of human CLN3 protein.
24827497 Genetic testing for CLN3 should be considered in autophagic vacuolar myopathy (AVM), with autophagic vacuoles and sarcolemmal features.
24271013 CLN3 mutation is associated with neuronal ceroid lipofuscinosis.
24154662 CLN3 was identified as a novel disease gene for non-syndromic retinal diseases as supported by five unrelated patient families in this study.
23840424 CLN3 is involved in the response and adaptation to cellular stress.
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AA Sequence

MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSG      1 - 70
NQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFV     71 - 140
LVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQ    141 - 210
QTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKG    211 - 280
LLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALAL    281 - 350
LQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI    351 - 420
SLSGLLALPLHDFLCQLS                                                        421 - 438
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Text Mined References (93)

PMID Year Title
26299671 2015 RNAi-mediated knockdown of the CLN3 gene inhibits proliferation and promotes apoptosis in drug-resistant ovarian cancer cells.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25878248 2015 Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
25338278 2015 Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
25330233 2014 Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3.
25051496 2014 FRET-assisted determination of CLN3 membrane topology.
24827497 2014 Novel CLN3 mutation causing autophagic vacuolar myopathy.
24271013 2014 Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
23840424 2013 Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.
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