Details for: CLN3

Gene ID: 1201

Symbol: CLN3

Ensembl ID: ENSG00000188603

Description: CLN3 lysosomal/endosomal transmembrane protein, battenin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 39.6301
    Cell Significance Index: -16.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 38.2104
    Cell Significance Index: -18.0400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 36.1888
    Cell Significance Index: -18.6200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 26.9440
    Cell Significance Index: -18.0800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.0936
    Cell Significance Index: -16.3200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2709
    Cell Significance Index: -14.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.5744
    Cell Significance Index: -14.0500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.2805
    Cell Significance Index: 21.0000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.4609
    Cell Significance Index: 87.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.3457
    Cell Significance Index: 49.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9280
    Cell Significance Index: 167.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8388
    Cell Significance Index: 97.7500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7631
    Cell Significance Index: 22.4100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7497
    Cell Significance Index: 33.9800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7157
    Cell Significance Index: 77.8500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5487
    Cell Significance Index: 67.4700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5483
    Cell Significance Index: 28.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4683
    Cell Significance Index: 93.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3724
    Cell Significance Index: 36.8400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3420
    Cell Significance Index: 5.1300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3395
    Cell Significance Index: 23.4800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3352
    Cell Significance Index: 302.7000
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.3342
    Cell Significance Index: 3.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2925
    Cell Significance Index: 104.9100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2756
    Cell Significance Index: 37.8500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2663
    Cell Significance Index: 34.1400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2545
    Cell Significance Index: 138.9700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2271
    Cell Significance Index: 36.9400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1711
    Cell Significance Index: 118.3300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1600
    Cell Significance Index: 4.0000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1372
    Cell Significance Index: 3.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1263
    Cell Significance Index: 6.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1119
    Cell Significance Index: 3.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0785
    Cell Significance Index: 4.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0503
    Cell Significance Index: 38.0900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0487
    Cell Significance Index: 0.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0455
    Cell Significance Index: 8.6500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0434
    Cell Significance Index: 1.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0250
    Cell Significance Index: 0.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0214
    Cell Significance Index: 1.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0198
    Cell Significance Index: 0.6400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0150
    Cell Significance Index: 0.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0148
    Cell Significance Index: 0.8300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0127
    Cell Significance Index: 0.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0111
    Cell Significance Index: 0.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0071
    Cell Significance Index: -0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0077
    Cell Significance Index: -14.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0089
    Cell Significance Index: -16.4800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0102
    Cell Significance Index: -4.5100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0108
    Cell Significance Index: -16.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0111
    Cell Significance Index: -1.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0125
    Cell Significance Index: -16.9900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0198
    Cell Significance Index: -14.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0227
    Cell Significance Index: -16.6500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0264
    Cell Significance Index: -16.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0266
    Cell Significance Index: -14.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0274
    Cell Significance Index: -17.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0342
    Cell Significance Index: -4.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0366
    Cell Significance Index: -16.5900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0375
    Cell Significance Index: -0.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0415
    Cell Significance Index: -1.4600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0423
    Cell Significance Index: -0.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0577
    Cell Significance Index: -2.6900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0636
    Cell Significance Index: -3.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0693
    Cell Significance Index: -3.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0698
    Cell Significance Index: -13.8500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0791
    Cell Significance Index: -16.6600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0818
    Cell Significance Index: -13.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0850
    Cell Significance Index: -9.7400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0863
    Cell Significance Index: -2.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1106
    Cell Significance Index: -5.2000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1217
    Cell Significance Index: -17.6900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1288
    Cell Significance Index: -0.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1327
    Cell Significance Index: -17.1400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1377
    Cell Significance Index: -1.4300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1402
    Cell Significance Index: -6.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1421
    Cell Significance Index: -14.8000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1458
    Cell Significance Index: -2.4400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1496
    Cell Significance Index: -1.2200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1576
    Cell Significance Index: -10.1700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1695
    Cell Significance Index: -6.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1984
    Cell Significance Index: -14.0300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2158
    Cell Significance Index: -16.0800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.2217
    Cell Significance Index: -1.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2283
    Cell Significance Index: -18.0800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2300
    Cell Significance Index: -14.1000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2380
    Cell Significance Index: -7.0100
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.2458
    Cell Significance Index: -1.5300
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.2473
    Cell Significance Index: -2.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2592
    Cell Significance Index: -5.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2653
    Cell Significance Index: -17.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2716
    Cell Significance Index: -7.2700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2856
    Cell Significance Index: -6.1100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.2875
    Cell Significance Index: -3.8800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2888
    Cell Significance Index: -8.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3184
    Cell Significance Index: -10.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3215
    Cell Significance Index: -10.2400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3400
    Cell Significance Index: -13.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3431
    Cell Significance Index: -12.0200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3628
    Cell Significance Index: -4.5000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The CLN3 protein is a transmembrane protein localized to lysosomes and early endosomes, where it is involved in regulating various cellular processes. Its primary function is to maintain lysosomal homeostasis by regulating autophagy, a process by which cells recycle damaged or dysfunctional cellular components. The protein also plays a role in regulating cytoskeletal organization, influencing the dynamics of actin filaments and microtubules. Additionally, CLN3 has been implicated in regulating synaptic transmission and plasticity, suggesting a role in neuronal function and development. **Pathways and Functions** The CLN3 protein is involved in various cellular pathways, including: 1. **Autophagosome maturation and fusion**: CLN3 regulates the maturation and fusion of autophagosomes with lysosomes, ensuring proper cellular recycling and clearance of damaged components. 2. **Lysosomal lumen acidification and pH regulation**: The protein helps regulate the acidification and pH of the lysosomal lumen, which is essential for maintaining proper lysosomal function and preventing cellular damage. 3. **Cytoskeletal organization**: CLN3 influences the dynamics of actin filaments and microtubules, regulating cytoskeletal organization and maintaining cellular structure and function. 4. **Synaptic transmission and plasticity**: The protein has been implicated in regulating synaptic transmission and plasticity, suggesting a role in neuronal function and development. 5. **Glycosphingolipid transport**: CLN3 regulates the transport of glycosphingolipids, which are essential components of cellular membranes and play a role in maintaining cellular homeostasis. 6. **Regulation of cellular response to osmotic stress**: The protein helps regulate the cellular response to osmotic stress, ensuring proper cellular adaptation to changes in the external environment. **Clinical Significance** Batten disease, caused by mutations in the CLN3 gene, is a rare and fatal neurodegenerative disorder characterized by progressive loss of vision, hearing, and motor function. The disease is typically diagnosed in childhood and progresses rapidly, with a median survival time of 2-5 years. The primary clinical features of Batten disease include: 1. **Progressive vision loss**: Patients typically experience progressive vision loss, starting with night blindness and progressing to complete blindness. 2. **Hearing loss**: Hearing loss is common, with patients often experiencing progressive loss of hearing over time. 3. **Seizures and tremors**: Seizures and tremors are common, with some patients experiencing severe motor dysfunction. 4. **Muscle weakness and wasting**: Muscle weakness and wasting are common, with some patients experiencing severe mobility impairments. The CLN3 gene has also been implicated in other neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. Further research is needed to fully understand the role of CLN3 in these diseases and to develop effective therapeutic strategies for treatment.

Genular Protein ID: 3106265755

Symbol: CLN3_HUMAN

Name: Batten disease protein

UniProtKB Accession Codes:

Q13286 B2R7J1 B4DXL3 O00668 O95089 Q549S9 Q9UP09 Q9UP11 Q9UP12 Q9UP13 Q9UP14

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 26 Ensembl 9 ExpressionAtlas 1 GO 79 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7553855

Title: Isolation of a novel gene underlying Batten disease, CLN3.

PubMed ID: 7553855

DOI: 10.1016/0092-8674(95)90274-0

PubMed ID: 9119403

Title: Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.

PubMed ID: 9119403

DOI: 10.1006/geno.1996.4576

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

DOI: 10.1006/geno.1999.5927

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

DOI: 10.1006/bbrc.1998.9210

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

DOI: 10.1006/mgme.1999.2836

PubMed ID: 10191116

Title: Tissue expression and subcellular localization of CLN3, the Batten disease protein.

PubMed ID: 10191116

DOI: 10.1006/mgme.1999.2830

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

DOI: 10.1006/mgme.2000.3006

PubMed ID: 12706816

Title: Membrane topology of CLN3, the protein underlying Batten disease.

PubMed ID: 12706816

DOI: 10.1016/s0014-5793(03)00284-9

PubMed ID: 14644441

Title: Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease.

PubMed ID: 14644441

DOI: 10.1016/s0014-5793(03)01274-2

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

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

DOI: 10.1074/jbc.m410930200

PubMed ID: 14699076

Title: Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.

PubMed ID: 14699076

DOI: 10.1091/mbc.e03-02-0120

PubMed ID: 15240864

Title: A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes.

PubMed ID: 15240864

DOI: 10.1203/01.pdr.0000136152.54638.95

PubMed ID: 15598649

Title: AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

PubMed ID: 15598649

DOI: 10.1074/jbc.m411862200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17482562

Title: A novel role of the Batten disease gene CLN3: association with BMP synthesis.

PubMed ID: 17482562

DOI: 10.1016/j.bbrc.2007.04.064

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

DOI: 10.1203/pdr.0b013e31802d8a4a

PubMed ID: 17286803

Title: C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

PubMed ID: 17286803

DOI: 10.1111/j.1600-0854.2007.00537.x

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 18621045

Title: Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

PubMed ID: 18621045

DOI: 10.1016/j.yexcr.2008.06.016

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18317235

Title: CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.

PubMed ID: 18317235

DOI: 10.1203/pdr.0b013e31816fdc17

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

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

DOI: 10.1111/j.1600-0854.2008.00807.x

PubMed ID: 19941651

Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.

PubMed ID: 19941651

DOI: 10.1186/1471-2121-10-83

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

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

DOI: 10.1126/scisignal.2000475

PubMed ID: 20850431

Title: A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells.

PubMed ID: 20850431

DOI: 10.1016/j.yexcr.2010.09.007

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22261744

Title: Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

PubMed ID: 22261744

DOI: 10.1007/s00018-011-0913-1

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

DOI: 10.1371/journal.pone.0066203

PubMed ID: 25051496

Title: FRET-assisted determination of CLN3 membrane topology.

PubMed ID: 25051496

DOI: 10.1371/journal.pone.0102593

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

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

DOI: 10.1007/s004390050654

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: 233702238

Symbol: B4DMY6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DMY6

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 2 Gene3D 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 1 PeptideAtlas 1 Pfam 1 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 UCSC 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

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

Genular Protein ID: 2892298354

Symbol: Q2TA70_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q2TA70

Database IDs:

ARBA 6 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GO 1 Gene3D 1 GeneCards 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

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: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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:

B4DFF3 H3BPM8

Database IDs:

ARBA 6 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 GO 1 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 3 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 UCSC 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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

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.