Details for: CLN5

Gene ID: 1203

Symbol: CLN5

Ensembl ID: ENSG00000102805

Description: CLN5 intracellular trafficking protein

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.79
    Marker Score: 2960.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.64
    Marker Score: 2318
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.52
    Marker Score: 3843
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.42
    Marker Score: 3816
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.22
    Marker Score: 5251
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.19
    Marker Score: 4408
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.17
    Marker Score: 4611
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.14
    Marker Score: 1160
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.11
    Marker Score: 38544
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.11
    Marker Score: 869
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.09
    Marker Score: 1925
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.07
    Marker Score: 1583
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.05
    Marker Score: 1115
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.04
    Marker Score: 2368
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.02
    Marker Score: 34847.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.01
    Marker Score: 1663
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71706
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1
    Marker Score: 1035
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47930
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.99
    Marker Score: 565
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.95
    Marker Score: 274
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.94
    Marker Score: 24183
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.92
    Marker Score: 508
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.92
    Marker Score: 212
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 434
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2697
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5070
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.88
    Marker Score: 328
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.87
    Marker Score: 7543
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5234
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.84
    Marker Score: 239
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.83
    Marker Score: 826
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.82
    Marker Score: 1264
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.81
    Marker Score: 2120
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.81
    Marker Score: 158
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8
    Marker Score: 12549
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.8
    Marker Score: 842
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.79
    Marker Score: 501
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.79
    Marker Score: 395
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.78
    Marker Score: 7913
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.78
    Marker Score: 6682
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.78
    Marker Score: 519
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.78
    Marker Score: 182
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 310
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.77
    Marker Score: 688.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.77
    Marker Score: 8645
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 578
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.74
    Marker Score: 2552
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.74
    Marker Score: 3621.5
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.74
    Marker Score: 166
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.73
    Marker Score: 219
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.72
    Marker Score: 1377
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.72
    Marker Score: 493
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.72
    Marker Score: 303
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.72
    Marker Score: 1320
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.72
    Marker Score: 177
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.71
    Marker Score: 757
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.7
    Marker Score: 15008
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2939
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.7
    Marker Score: 281
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.69
    Marker Score: 6600.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.69
    Marker Score: 798
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.69
    Marker Score: 487
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.69
    Marker Score: 490
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.69
    Marker Score: 367
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.68
    Marker Score: 457
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.68
    Marker Score: 2426
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.68
    Marker Score: 312
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.68
    Marker Score: 241
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.68
    Marker Score: 409
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.68
    Marker Score: 2612
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.68
    Marker Score: 214
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.68
    Marker Score: 665
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 611
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.67
    Marker Score: 428
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.67
    Marker Score: 388
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.66
    Marker Score: 331
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.66
    Marker Score: 856
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.66
    Marker Score: 1202
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.66
    Marker Score: 1552
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.66
    Marker Score: 693
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.65
    Marker Score: 898
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.64
    Marker Score: 462
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.64
    Marker Score: 333
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.63
    Marker Score: 2435
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.63
    Marker Score: 223
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.62
    Marker Score: 2547
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.62
    Marker Score: 601
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.62
    Marker Score: 4030
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.62
    Marker Score: 5805
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.62
    Marker Score: 185
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 407
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.61
    Marker Score: 389

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Other Information

**Key characteristics:** * CLN5 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a member of the clathrin family of cell adhesion molecules. * CLN5 is highly expressed in the kidney, where it is involved in lysosome biogenesis and endocytosis. * It is also expressed in other tissues, including the brain, where it is involved in neuronal development and function. **Pathways and functions:** * CLN5 is involved in the regulation of lysosome biogenesis by interacting with the lysosomal sorting receptor CLN1. * It is also involved in the regulation of endocytosis by interacting with the adaptor protein Eps150. * CLN5 is involved in the regulation of neuronal development and function by interacting with the transcription factor GDNF. * It is involved in the positive regulation of GTP-binding protein (GTP-BP) signaling by interacting with the GTP-BP-binding protein TSC2. * CLN5 is also involved in the retrograde transport of proteins from the endoplasmic reticulum to the lysosome. **Clinical significance:** CLN5 is a potential therapeutic target for a variety of diseases. For example, mutations in CLN5 have been linked to a number of neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. Inhibition of CLN5 has been shown to be effective in protecting cells from damage and extending the lifespan of animal models of neurodegenerative diseases.

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 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 22 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 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 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 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: 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

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. For the full schema, download it here.