Details for: CLN3
Associated with
Other Information
Genular Protein ID: 3106265755
Symbol: CLN3_HUMAN
Name: Batten disease protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7553855
Title: Isolation of a novel gene underlying Batten disease, CLN3.
PubMed ID: 7553855
PubMed ID: 9119403
Title: Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
PubMed ID: 9119403
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 10493829
Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
PubMed ID: 10493829
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 9878558
Title: Evidence for phosphorylation of CLN3 protein associated with Batten disease.
PubMed ID: 9878558
PubMed ID: 9949212
Title: The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.
PubMed ID: 9949212
DOI: 10.1093/hmg/8.3.523
PubMed ID: 10332042
Title: Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL).
PubMed ID: 10332042
DOI: 10.1093/hmg/8.6.1091
PubMed ID: 10191115
Title: Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro.
PubMed ID: 10191115
PubMed ID: 10191116
Title: Tissue expression and subcellular localization of CLN3, the Batten disease protein.
PubMed ID: 10191116
PubMed ID: 10924275
Title: CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.
PubMed ID: 10924275
PubMed ID: 12706816
Title: Membrane topology of CLN3, the protein underlying Batten disease.
PubMed ID: 12706816
PubMed ID: 14644441
Title: Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease.
PubMed ID: 14644441
PubMed ID: 14759258
PubMed ID: 15471887
Title: Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
PubMed ID: 15471887
DOI: 10.1093/hmg/ddh321
PubMed ID: 15469932
Title: A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting.
PubMed ID: 15469932
PubMed ID: 14699076
Title: Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.
PubMed ID: 14699076
PubMed ID: 15240864
Title: A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes.
PubMed ID: 15240864
PubMed ID: 15598649
Title: AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.
PubMed ID: 15598649
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 17482562
Title: A novel role of the Batten disease gene CLN3: association with BMP synthesis.
PubMed ID: 17482562
PubMed ID: 17189291
Title: Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin.
PubMed ID: 17189291
DOI: 10.1093/hmg/ddl466
PubMed ID: 17237713
Title: Neuronal ceroid lipofuscinosis: a common pathway?
PubMed ID: 17237713
PubMed ID: 17286803
Title: C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
PubMed ID: 17286803
PubMed ID: 17897319
Title: Integral and associated lysosomal membrane proteins.
PubMed ID: 17897319
PubMed ID: 18621045
Title: Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.
PubMed ID: 18621045
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18317235
Title: CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.
PubMed ID: 18317235
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 18817525
Title: Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.
PubMed ID: 18817525
PubMed ID: 19941651
Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.
PubMed ID: 19941651
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20015955
Title: Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.
PubMed ID: 20015955
DOI: 10.1093/hmg/ddp560
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 20850431
Title: A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells.
PubMed ID: 20850431
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22261744
Title: Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.
PubMed ID: 22261744
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 23840424
Title: Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.
PubMed ID: 23840424
PubMed ID: 25051496
Title: FRET-assisted determination of CLN3 membrane topology.
PubMed ID: 25051496
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 28390177
Title: Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.
PubMed ID: 28390177
DOI: 10.1002/jcb.26039
PubMed ID: 9311735
Title: Spectrum of mutations in the Batten disease gene, CLN3.
PubMed ID: 9311735
DOI: 10.1086/514846
PubMed ID: 9490299
Title: Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.
PubMed ID: 9490299
PubMed ID: 21990111
Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
PubMed ID: 21990111
DOI: 10.1002/humu.21624
Sequence Information:
- Length: 438
- Mass: 47623
- Checksum: BE25E973CEEC4FD5
- Sequence:
MGGCAGSRRR FSDSEGEETV PEPRLPLLDH QGAHWKNAVG FWLLGLCNNF SYVVMLSAAH DILSHKRTSG NQSHVDPGPT PIPHNSSSRF DCNSVSTAAV LLADILPTLV IKLLAPLGLH LLPYSPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPRAV ISWWSSGTGG AGLLGALSYL GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG GEEEAESAAR QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL LQCLNLVFLL ADVWFGFLPS IYLVFLIILY EGLLGGAAYV NTFHNIALET SDEHREFAMA ATCISDTLGI SLSGLLALPL HDFLCQLS
Genular Protein ID: 2892298354
Symbol: Q2TA70_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
Sequence Information:
- Length: 360
- Mass: 39168
- Checksum: 5DB527A0503D338D
- Sequence:
MLSAAHDILS HKRTSGNQSH AVLLADILPT LVIKLLAPLG LHLLPYSPRV LVSGICAAGS FVLVAFSHSV GTSLCGVVFA SISSGLGEVT FLSLTAFYPR AVISWWSSGT GGAGLLGALS YLGLTQAGLS PQQTLLSMLG IPALLLASYF LLLTSPEAQD PGGEEEAESA ARQPLIRTEA PESKPGSSSS LSLRERWTVF KGLLWYIVPL VVVYFAEYFI NQGLFELLFF WNTSLSHAQQ YRWYQMLYQA GVFASRSSLR CCRIRFTWAL ALLQCLNLVF LLADVWFGFL PSIYLVFLII LYEGLLGGAA YVNTFHNIAL ETSDEHREFA MAATCISDTL GISLSGLLAL PLHDFLCQLS
Genular Protein ID: 2755375800
Symbol: B4DFF3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
Sequence Information:
- Length: 384
- Mass: 41635
- Checksum: 4E548E82B3CBC994
- Sequence:
MLSAAHDILS HKRTSGNQSH VDPGPTPIPH NSSSRFDCNS VSTAAVLLAD ILPTLVIKLL APLGLHLLPY SPRVLVSGIC AAGSFVLVAF SHSVGTSLCG VVFASISSGL GEVTFLSLTA FYPRAVISWW SSGTGGAGLL GALSYLGLTQ AGLSPQQTLL SMLGIPALLL ASYFLLLTSP EAQDPGGEEE AESAARQPLI RTEAPESKPG SSSSLSLRER WTVFKGLLWY IVPLVVVYFA EYFINQGLFE LLFFWNTSLS HAQQYRWYQM LYQAGVFASR SSLRCCRIRF TWALALLQCL NLVFLLADVW FGFLPSIYLV FLIILYEGLL GGAAYVNTFH NIALETSDEH REFAMAATCI SDTLGISLSG LLALPLHDFL CQLS
Genular Protein ID: 233702238
Symbol: B4DMY6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11181995
Sequence Information:
- Length: 338
- Mass: 37020
- Checksum: D8E15979F0563314
- Sequence:
MWTQAQRRSP TTAHHDLTAT LSLRLPRVLV SGICAAGSFV LVAFSHSVGT SLCGVVFASI SSGLGEVTFL SLTAFYPRAV ISWWSSGTGG AGLLGALSYL GLTQAGLSPQ QTLLSMLGIP ALLLASYFLL LTSPEAQDPG GEEEAESAAR QPLIRTEAPE SKPGSSSSLS LRERWTVFKG LLWYIVPLVV VYFAEYFINQ GLFELLFFWN TSLSHAQQYR WYQMLYQAGV FASRSSLRCC RIRFTWALAL LQCLNLVFLL ADVWFGFLPS IYLVFLIILY EGLLGGAAYV NTFHNIALET SDEHREFAMA ATCISDTLGI SLSGLLALPL HDFLCQLS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.