Details for: CTNS

Gene ID: 1497

Symbol: CTNS

Ensembl ID: ENSG00000040531

Description: cystinosin, lysosomal cystine transporter

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 proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.18
    Marker Score: 2781
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.08
    Marker Score: 16929
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.05
    Marker Score: 1830
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71785
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48010
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 489
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 444
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5079
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.86
    Marker Score: 790
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1259
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 249
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.75
    Marker Score: 811
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 567
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 380
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 289
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.71
    Marker Score: 392
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2974.5
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.7
    Marker Score: 252
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 626
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.66
    Marker Score: 801
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.66
    Marker Score: 3941
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.65
    Marker Score: 204
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.6
    Marker Score: 13460
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.6
    Marker Score: 802
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.59
    Marker Score: 1198
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.53
    Marker Score: 11295
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.51
    Marker Score: 327
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.5
    Marker Score: 298
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.49
    Marker Score: 607
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.49
    Marker Score: 5024
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.49
    Marker Score: 120
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.48
    Marker Score: 229
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.48
    Marker Score: 600.5
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.48
    Marker Score: 325
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.47
    Marker Score: 523
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.47
    Marker Score: 1627
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.45
    Marker Score: 200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.45
    Marker Score: 264
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.45
    Marker Score: 2732
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.45
    Marker Score: 116.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.42
    Marker Score: 650
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.42
    Marker Score: 415
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.42
    Marker Score: 1750
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.41
    Marker Score: 202
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.41
    Marker Score: 352
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.4
    Marker Score: 166
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.39
    Marker Score: 556
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.38
    Marker Score: 952
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.38
    Marker Score: 603
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.37
    Marker Score: 1521
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.37
    Marker Score: 181
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.37
    Marker Score: 184
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.36
    Marker Score: 1283
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.36
    Marker Score: 389
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.36
    Marker Score: 150
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.36
    Marker Score: 410
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.36
    Marker Score: 235
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.35
    Marker Score: 142
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.35
    Marker Score: 229
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.35
    Marker Score: 171
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.35
    Marker Score: 3252
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.35
    Marker Score: 21242
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.34
    Marker Score: 2935
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.34
    Marker Score: 108
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.34
    Marker Score: 272
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.34
    Marker Score: 118
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.33
    Marker Score: 608
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.33
    Marker Score: 185
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.32
    Marker Score: 214
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.32
    Marker Score: 131
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.32
    Marker Score: 129
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.31
    Marker Score: 210
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.31
    Marker Score: 646
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.3
    Marker Score: 146
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.3
    Marker Score: 136
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.3
    Marker Score: 190
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.3
    Marker Score: 571
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.29
    Marker Score: 110
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.29
    Marker Score: 2768
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.29
    Marker Score: 67
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.29
    Marker Score: 280
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.29
    Marker Score: 68
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.29
    Marker Score: 479
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.29
    Marker Score: 5128
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.29
    Marker Score: 543
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.28
    Marker Score: 286
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.28
    Marker Score: 679
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.28
    Marker Score: 482
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.28
    Marker Score: 4547
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.28
    Marker Score: 75
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.28
    Marker Score: 1045

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Other Information

**Key characteristics:** - CTNS is a transmembrane protein that is composed of 13 transmembrane domains. - It is expressed in high levels in the kidney, where it is involved in the maintenance of water and electrolyte balance. - CTNS is also expressed in the brain, where it is involved in a variety of cellular processes, including cell migration and differentiation. - It is a key regulator of the activity of the L-cystine transmembrane transporter, which is responsible for the transport of L-cystine into the cell. **Pathways and functions:** - CTNS is involved in a variety of cellular processes, including cell migration, differentiation, and behavior. - It is a key regulator of the activity of the L-cystine transmembrane transporter, which is responsible for the transport of L-cystine into the cell. - CTNS is also involved in the maintenance of water and electrolyte balance in the kidney. - It is involved in the development and function of the lens in the eye. - It is also involved in the regulation of long-term memory. **Clinical significance:** - Mutations in CTNS have been linked to a number of human diseases, including kidney disease, cancer, and schizophrenia. - CTNS is a potential target for the treatment of these diseases. **Additional information:** - CTNS is a relatively conserved protein, with a similar sequence in rodents and humans. - It is a member of the SLC family of solute-transporting proteins, which are responsible for the transport of molecules between the cell and the extracellular environment. - CTNS is a key regulator of the activity of the L-cystine transmembrane transporter, which is responsible for the transport of L-cystine into the cell. - It is also involved in the maintenance of water and electrolyte balance in the kidney.

Genular Protein ID: 3658933797

Symbol: CTNS_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9537412

Title: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

PubMed ID: 9537412

DOI: 10.1038/ng0498-319

PubMed ID: 10673275

Title: The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

PubMed ID: 10673275

DOI: 10.1101/gr.10.2.165

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 10068513

Title: Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

PubMed ID: 10068513

DOI: 10.1006/mgme.1998.2790

PubMed ID: 28082515

Title: Impact of cystinosin glycosylation on protein stability by differential dynamic stable isotope labeling by amino acids in cell culture (SILAC).

PubMed ID: 28082515

DOI: 10.1074/mcp.m116.063867

PubMed ID: 10571941

Title: CTNS mutations in patients with cystinosis.

PubMed ID: 10571941

DOI: 10.1002/(sici)1098-1004(199912)14:6<454::aid-humu2>3.0.co;2-h

PubMed ID: 11689434

Title: Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.

PubMed ID: 11689434

DOI: 10.1093/emboj/20.21.5940

PubMed ID: 11150305

Title: The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.

PubMed ID: 11150305

DOI: 10.1074/jbc.m010562200

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 18337546

Title: Identification and subcellular localization of a new cystinosin isoform.

PubMed ID: 18337546

DOI: 10.1152/ajprenal.00413.2007

PubMed ID: 22649030

Title: Cystinosin is a melanosomal protein that regulates melanin synthesis.

PubMed ID: 22649030

DOI: 10.1096/fj.11-201376

PubMed ID: 22544350

Title: Distribution of cystinosin-LKG in human tissues.

PubMed ID: 22544350

DOI: 10.1007/s00418-012-0958-8

PubMed ID: 22232659

Title: Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

PubMed ID: 22232659

DOI: 10.1073/pnas.1115581109

PubMed ID: 25753619

Title: Lysosomal targeting of cystinosin requires AP-3.

PubMed ID: 25753619

DOI: 10.1111/tra.12277

PubMed ID: 27148969

Title: Carboxyl-terminal SSLKG motif of the human cystinosin-LKG plays an important role in plasma membrane sorting.

PubMed ID: 27148969

DOI: 10.1371/journal.pone.0154805

PubMed ID: 29467429

Title: A genetic screen for investigating the human lysosomal cystine transporter, cystinosin.

PubMed ID: 29467429

DOI: 10.1038/s41598-018-21483-x

PubMed ID: 33208952

Title: MFSD12 mediates the import of cysteine into melanosomes and lysosomes.

PubMed ID: 33208952

DOI: 10.1038/s41586-020-2937-x

PubMed ID: 36113465

Title: Structure and mechanism of human cystine exporter cystinosin.

PubMed ID: 36113465

DOI: 10.1016/j.cell.2022.08.020

PubMed ID: 9792862

Title: CTNS mutations in an American-based population of cystinosis patients.

PubMed ID: 9792862

DOI: 10.1086/302118

PubMed ID: 10482956

Title: Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

PubMed ID: 10482956

DOI: 10.1038/sj.ejhg.5200349

PubMed ID: 10444339

Title: Mutations of CTNS causing intermediate cystinosis.

PubMed ID: 10444339

DOI: 10.1006/mgme.1999.2876

PubMed ID: 10556299

Title: Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

PubMed ID: 10556299

DOI: 10.1093/hmg/8.13.2507

PubMed ID: 10625078

Title: Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

PubMed ID: 10625078

DOI: 10.1203/00006450-200001000-00007

PubMed ID: 12204010

Title: Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

PubMed ID: 12204010

DOI: 10.1002/humu.9063

PubMed ID: 12442267

Title: Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

PubMed ID: 12442267

DOI: 10.1002/humu.10141

PubMed ID: 12825071

Title: Mutational spectrum of the CTNS gene in Italy.

PubMed ID: 12825071

DOI: 10.1038/sj.ejhg.5200993

PubMed ID: 15128704

Title: Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

PubMed ID: 15128704

DOI: 10.1093/hmg/ddh152

PubMed ID: 19852576

Title: Characterization of CTNS mutations in Arab patients with cystinosis.

PubMed ID: 19852576

DOI: 10.3109/13816810903200953

PubMed ID: 22450360

Title: Two novel CTNS mutations in cystinosis patients in Thailand.

PubMed ID: 22450360

DOI: 10.1016/j.gene.2012.03.047

PubMed ID: 21786142

Title: Genetic basis of cystinosis in Turkish patients: a single-center experience.

PubMed ID: 21786142

DOI: 10.1007/s00467-011-1942-6

Sequence Information:

  • Length: 367
  • Mass: 41738
  • Checksum: 9343889CD7576908
  • Sequence:
  • MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI 
    TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS 
    SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL 
    LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF 
    LVLAWLFAFV TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG 
    NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR 
    PGYDQLN

Genular Protein ID: 848862966

Symbol: A0A0S2Z3I9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 400
  • Mass: 45039
  • Checksum: 47AF39E14090DFC2
  • Sequence:
  • MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI 
    TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS 
    SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL 
    LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF 
    LVLAWLFAFV TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG 
    NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR 
    PGLQAARTGS GSRLRQDWAP SLQPKALPQT TSVSASSLKG

Genular Protein ID: 1457886422

Symbol: I3L4A9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 253
  • Mass: 28630
  • Checksum: 79F1BB80FFF3D836
  • Sequence:
  • MNWRRKSVIG LSFDFVALNL TGFVAYSVFN IGLLWVPYIK EQFLLKYPNG VNPVNSNDVF 
    FSLHAVVLTL IIIVQCCLYE RGGQRVSWPA IGFLVLAWLF AFVTMIVAAV GVTTWLQFLF 
    CFSYIKLAVT LVKYFPQAYM NFYYKSTEGW SIGNVLLDFT GGSFSLLQMF LQSYNNDQWT 
    LIFGDPTKFG LGVFSIVFDV VFFIQHFCLY RKRPGLQAAR TGSGSRLRQD WAPSLQPKAL 
    PQTTSVSASS LKG

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.