Details for: CLN5

Gene ID: 1203

Symbol: CLN5

Ensembl ID: ENSG00000102805

Description: CLN5 intracellular trafficking protein

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 160.2749
    Cell Significance Index: -24.9300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 91.3093
    Cell Significance Index: -23.1600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.1218
    Cell Significance Index: -25.0800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 46.8909
    Cell Significance Index: -24.1200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 37.3311
    Cell Significance Index: -25.0500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.2822
    Cell Significance Index: -26.2400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.6007
    Cell Significance Index: -23.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7435
    Cell Significance Index: -26.6100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.3781
    Cell Significance Index: -19.5900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.1449
    Cell Significance Index: -11.2600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 3.9615
    Cell Significance Index: 42.0900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.0152
    Cell Significance Index: 139.3600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.7242
    Cell Significance Index: 13.2900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.6011
    Cell Significance Index: 36.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.4276
    Cell Significance Index: 166.3700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.3459
    Cell Significance Index: 11.3100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1663
    Cell Significance Index: 1053.0500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0427
    Cell Significance Index: 62.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9178
    Cell Significance Index: 117.6600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9105
    Cell Significance Index: 99.0400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8808
    Cell Significance Index: 23.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7539
    Cell Significance Index: 122.6200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7198
    Cell Significance Index: 129.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7095
    Cell Significance Index: 387.5000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6849
    Cell Significance Index: 35.5800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6524
    Cell Significance Index: 41.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6381
    Cell Significance Index: 87.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6032
    Cell Significance Index: 74.1800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5658
    Cell Significance Index: 26.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5325
    Cell Significance Index: 34.3600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5218
    Cell Significance Index: 4.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5173
    Cell Significance Index: 14.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4910
    Cell Significance Index: 30.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4506
    Cell Significance Index: 12.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4132
    Cell Significance Index: 82.8900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3293
    Cell Significance Index: 18.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3160
    Cell Significance Index: 14.8500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3047
    Cell Significance Index: 13.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3012
    Cell Significance Index: 22.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.2991
    Cell Significance Index: 34.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2848
    Cell Significance Index: 102.1700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2780
    Cell Significance Index: 27.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2751
    Cell Significance Index: 5.9600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2609
    Cell Significance Index: 115.3600
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.2495
    Cell Significance Index: 1.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2423
    Cell Significance Index: 69.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2335
    Cell Significance Index: 17.9200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2183
    Cell Significance Index: 6.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1882
    Cell Significance Index: 32.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1301
    Cell Significance Index: 16.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1108
    Cell Significance Index: 2.7700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0767
    Cell Significance Index: 1.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0654
    Cell Significance Index: 12.4500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0646
    Cell Significance Index: 1.2600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0624
    Cell Significance Index: 3.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0577
    Cell Significance Index: 42.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0387
    Cell Significance Index: 2.0300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0329
    Cell Significance Index: 2.3300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0285
    Cell Significance Index: 1.0000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0034
    Cell Significance Index: 0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0073
    Cell Significance Index: -4.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0087
    Cell Significance Index: -6.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0137
    Cell Significance Index: -25.8000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0159
    Cell Significance Index: -0.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0164
    Cell Significance Index: -30.2900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0171
    Cell Significance Index: -9.6400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0197
    Cell Significance Index: -30.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0224
    Cell Significance Index: -30.5100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0246
    Cell Significance Index: -2.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0358
    Cell Significance Index: -22.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0408
    Cell Significance Index: -8.5900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0559
    Cell Significance Index: -1.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0561
    Cell Significance Index: -25.4800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0570
    Cell Significance Index: -1.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0654
    Cell Significance Index: -1.1000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0789
    Cell Significance Index: -9.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0910
    Cell Significance Index: -4.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1071
    Cell Significance Index: -3.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1117
    Cell Significance Index: -13.1700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1199
    Cell Significance Index: -4.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1278
    Cell Significance Index: -25.3700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1712
    Cell Significance Index: -24.8900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1729
    Cell Significance Index: -3.6200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1773
    Cell Significance Index: -4.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2052
    Cell Significance Index: -2.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2501
    Cell Significance Index: -19.8100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2579
    Cell Significance Index: -26.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2587
    Cell Significance Index: -7.2300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3035
    Cell Significance Index: -18.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3446
    Cell Significance Index: -10.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3530
    Cell Significance Index: -4.0100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3757
    Cell Significance Index: -9.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3821
    Cell Significance Index: -25.6900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3825
    Cell Significance Index: -5.8100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3944
    Cell Significance Index: -7.2900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4619
    Cell Significance Index: -12.3600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4874
    Cell Significance Index: -6.0500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4881
    Cell Significance Index: -15.9800
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.5004
    Cell Significance Index: -2.9400

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:** CLN5 is a membrane-bound protein that localizes to the endoplasmic reticulum (ER) and Golgi apparatus, where it is involved in the processing and trafficking of proteins. Its primary function is to facilitate the retrograde transport of proteins from the Golgi apparatus to the ER, a process crucial for protein maturation and secretion. CLN5 also interacts with other proteins, including those involved in glycosylation, hydrolase activity, and lysosomal lumen acidification, highlighting its multifaceted role in cellular homeostasis. **Pathways and Functions:** CLN5 is involved in several key pathways, including: 1. **Retrograde transport:** CLN5 facilitates the transport of proteins from the Golgi apparatus to the ER, a process essential for protein maturation and secretion. 2. **Glycosylation:** CLN5 interacts with glycosyltransferases, influencing the glycosylation of proteins and their subsequent targeting to lysosomes or the plasma membrane. 3. **Hydrolase activity:** CLN5 is involved in the regulation of hydrolase activity, which is crucial for protein degradation and lysosomal function. 4. **Lysosomal lumen acidification:** CLN5 plays a role in maintaining the acidic pH of the lysosomal lumen, essential for protein degradation and cellular homeostasis. **Clinical Significance:** Dysregulation of CLN5 has been implicated in various human diseases, including: 1. **Ceroid-lipofuscinosis:** A group of neurodegenerative disorders characterized by the accumulation of lipofuscin in neurons. 2. **Neurodevelopmental disorders:** CLN5 mutations have been linked to neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. 3. **Kidney diseases:** CLN5 is expressed in kidney cells, and its dysfunction has been implicated in kidney diseases, including nephrotic syndrome and kidney failure. In conclusion, CLN5 is a complex protein with multiple functions in cellular homeostasis. Its dysregulation has far-reaching consequences, leading to various human diseases. Further research is needed to fully elucidate the mechanisms underlying CLN5 function and its role in human disease, with the ultimate goal of developing novel therapeutic strategies for these conditions. **Recommendations for Future Research:** 1. **Investigate CLN5 interactions:** Further study of CLN5 interactions with other proteins and pathways will provide insights into its regulatory mechanisms. 2. **Analyze CLN5 expression in human tissues:** Expression studies in human tissues will help identify CLN5's role in specific diseases and tissues. 3. **Develop therapeutic strategies:** Targeted therapies aimed at restoring CLN5 function or regulating its downstream pathways may offer promising treatments for CLN5-related diseases. By advancing our understanding of CLN5, we can uncover new avenues for treating complex human diseases and improve our comprehension of the intricate mechanisms governing cellular homeostasis.

Genular Protein ID: 3587328721

Symbol: CLN5_HUMAN

Name: Ceroid-lipofuscinosis neuronal protein 5

UniProtKB Accession Codes:

O75503 B3KQK7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 20 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 24 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 Rhea 14 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9662406

Title: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 9662406

DOI: 10.1038/975

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 11971870

Title: Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

PubMed ID: 11971870

DOI: 10.1093/hmg/11.8.885

PubMed ID: 22431521

Title: The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.

PubMed ID: 22431521

DOI: 10.1128/mcb.06726-11

PubMed ID: 28442266

Title: CLN5 is cleaved by members of the SPP/SPPL family to produce a mature soluble protein.

PubMed ID: 28442266

DOI: 10.1016/j.yexcr.2017.04.024

PubMed ID: 35427157

Title: Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.

PubMed ID: 35427157

DOI: 10.1126/sciadv.abj8633

PubMed ID: 15728307

Title: A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

PubMed ID: 15728307

DOI: 10.1212/01.wnl.0000151974.44980.f1

PubMed ID: 16814585

Title: Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

PubMed ID: 16814585

DOI: 10.1016/j.ymgme.2006.04.010

PubMed ID: 17607606

Title: Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

PubMed ID: 17607606

DOI: 10.1055/s-2007-981449

PubMed ID: 19309691

Title: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

PubMed ID: 19309691

DOI: 10.1002/humu.21010

PubMed ID: 20052765

Title: The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PubMed ID: 20052765

DOI: 10.1002/humu.21195

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

PubMed ID: 24038957

Title: Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PubMed ID: 24038957

DOI: 10.1002/humu.22443

PubMed ID: 24058541

Title: The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PubMed ID: 24058541

DOI: 10.1371/journal.pone.0074299

PubMed ID: 26342652

Title: Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

PubMed ID: 26342652

DOI: 10.1016/j.yexcr.2015.08.021

PubMed ID: 37708259

Title: The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase.

PubMed ID: 37708259

DOI: 10.1126/science.adg9288

Sequence Information:

  • Length: 358
  • Mass: 41497
  • Checksum: 07E49D4913685190
  • Sequence:
    • MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR RHWPVPYKRF 
DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP VWEFKYGDLL GHLKIMHDAI 
GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR PEMDAPFWCN QGAACFFEGI DDVHWKENGT 
LVQVATISGN MFNQMAKWVK QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN 
KLAEFGAEFK NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP 
TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI RNKTLSGL

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.