Details for: CTNS

Gene ID: 1497

Symbol: CTNS

Ensembl ID: ENSG00000040531

Description: cystinosin, lysosomal cystine transporter

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: 91.9347
    Cell Significance Index: -14.3000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 55.9644
    Cell Significance Index: -14.2000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.8739
    Cell Significance Index: -14.6400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.6890
    Cell Significance Index: -11.1600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2858
    Cell Significance Index: -14.1600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.7240
    Cell Significance Index: -14.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8011
    Cell Significance Index: 21.4700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.6607
    Cell Significance Index: 10.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5513
    Cell Significance Index: 42.3100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4275
    Cell Significance Index: 386.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3747
    Cell Significance Index: 74.3600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2777
    Cell Significance Index: 30.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2747
    Cell Significance Index: 44.6900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2409
    Cell Significance Index: 14.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2244
    Cell Significance Index: 10.1700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2181
    Cell Significance Index: 25.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2018
    Cell Significance Index: 36.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1832
    Cell Significance Index: 18.1200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1754
    Cell Significance Index: 5.0600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1710
    Cell Significance Index: 34.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1639
    Cell Significance Index: 3.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1331
    Cell Significance Index: 3.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1299
    Cell Significance Index: 8.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1169
    Cell Significance Index: 14.3800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1157
    Cell Significance Index: 6.0100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1011
    Cell Significance Index: 2.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0989
    Cell Significance Index: 1.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0939
    Cell Significance Index: 33.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0776
    Cell Significance Index: 1.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0753
    Cell Significance Index: 41.1300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0712
    Cell Significance Index: 3.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0600
    Cell Significance Index: 8.2400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0581
    Cell Significance Index: 11.0500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0507
    Cell Significance Index: 35.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0377
    Cell Significance Index: 1.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0346
    Cell Significance Index: 53.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0337
    Cell Significance Index: 14.9200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0294
    Cell Significance Index: 54.2400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0215
    Cell Significance Index: 0.7600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0201
    Cell Significance Index: 37.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0037
    Cell Significance Index: 5.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0024
    Cell Significance Index: 0.0700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0002
    Cell Significance Index: -0.0300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0008
    Cell Significance Index: -0.5400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0084
    Cell Significance Index: -0.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0097
    Cell Significance Index: -0.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0102
    Cell Significance Index: -7.5000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0135
    Cell Significance Index: -10.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0147
    Cell Significance Index: -0.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0170
    Cell Significance Index: -7.7300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0204
    Cell Significance Index: -2.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0206
    Cell Significance Index: -15.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0258
    Cell Significance Index: -14.5500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0341
    Cell Significance Index: -21.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0342
    Cell Significance Index: -4.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0378
    Cell Significance Index: -4.4600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0382
    Cell Significance Index: -10.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0396
    Cell Significance Index: -4.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0416
    Cell Significance Index: -5.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0615
    Cell Significance Index: -4.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0631
    Cell Significance Index: -3.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0869
    Cell Significance Index: -1.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0880
    Cell Significance Index: -5.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0891
    Cell Significance Index: -18.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0935
    Cell Significance Index: -6.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0965
    Cell Significance Index: -11.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0967
    Cell Significance Index: -6.2400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0994
    Cell Significance Index: -2.0600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1121
    Cell Significance Index: -3.5900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1250
    Cell Significance Index: -1.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1315
    Cell Significance Index: -13.7000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1401
    Cell Significance Index: -4.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1406
    Cell Significance Index: -8.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1509
    Cell Significance Index: -11.9500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1580
    Cell Significance Index: -3.4600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1601
    Cell Significance Index: -8.3400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1609
    Cell Significance Index: -10.8200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1712
    Cell Significance Index: -2.8700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1900
    Cell Significance Index: -2.7000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2073
    Cell Significance Index: -9.1700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2114
    Cell Significance Index: -5.6600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2149
    Cell Significance Index: -3.4100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2170
    Cell Significance Index: -1.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2422
    Cell Significance Index: -9.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2496
    Cell Significance Index: -3.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2599
    Cell Significance Index: -5.4400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2601
    Cell Significance Index: -7.6400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2617
    Cell Significance Index: -13.7400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2671
    Cell Significance Index: -2.7700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2706
    Cell Significance Index: -3.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2807
    Cell Significance Index: -4.8100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3040
    Cell Significance Index: -10.6500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3095
    Cell Significance Index: -5.7200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3124
    Cell Significance Index: -9.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3126
    Cell Significance Index: -8.2200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3145
    Cell Significance Index: -4.7400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3177
    Cell Significance Index: -8.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3228
    Cell Significance Index: -10.5700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3299
    Cell Significance Index: -2.6900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3304
    Cell Significance Index: -9.4700

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** 1. **Lysosomal cystine transporter**: Cystinosin is a transmembrane protein that spans the lysosomal membrane, with its N-terminal domain located on the cytosolic side and its C-terminal domain embedded in the lysosomal lumen. 2. **Cystine transport**: Cystinosin is responsible for the uptake of cystine from the extracellular environment into lysosomes, where it is converted into glutathione, a key antioxidant. 3. **Regulation of cystine levels**: Cystinosin regulates cystine levels within lysosomes by controlling the influx of cystine and the efflux of glutathione. 4. **Cellular localization**: Cystinosin is primarily expressed in the kidney, liver, and brain, where it plays a role in maintaining the balance of cystine and other amino acids. **Pathways and Functions** 1. **Amino acid metabolism**: Cystinosin regulates the uptake of cystine and other amino acids into lysosomes, which is essential for protein synthesis, signaling, and membrane trafficking. 2. **Antioxidant defense**: Cystinosin helps maintain the balance of glutathione within lysosomes, which is a key antioxidant that protects cells from oxidative stress. 3. **Lysosomal function**: Cystinosin regulates the function of lysosomes by controlling the influx of cystine and the efflux of glutathione, which is essential for maintaining lysosomal pH and function. 4. **Cell signaling**: Cystinosin may also play a role in cell signaling pathways, including those involved in protein synthesis, transport, and trafficking. **Clinical Significance** 1. **Cystinosis**: Mutations in the CTNS gene have been associated with cystinosis, a rare genetic disorder characterized by the accumulation of cystine in lysosomes, leading to cellular dysfunction and organ damage. 2. **Kidney disease**: Cystinosin dysfunction has been implicated in kidney disease, including cystinuria, a condition characterized by the accumulation of cystine in the kidneys, leading to kidney damage and failure. 3. **Neurodegenerative diseases**: Cystinosin has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease, where lysosomal dysfunction and accumulation of cystine may contribute to disease progression. 4. **Therapeutic strategies**: Understanding the role of cystinosin in lysosomal function and amino acid metabolism has led to the development of therapeutic strategies, including enzyme replacement therapy and small molecule inhibitors of cystinosin, which aim to reduce cystine accumulation and improve lysosomal function. In conclusion, the CTNS gene plays a crucial role in maintaining the balance of cystine and other amino acids within cells, and its dysfunction has been implicated in various diseases, including cystinosis, kidney disease, and neurodegenerative diseases. Further research is needed to fully understand the mechanisms by which cystinosin regulates lysosomal function and amino acid metabolism, and to develop effective therapeutic strategies to treat these diseases.

Genular Protein ID: 3658933797

Symbol: CTNS_HUMAN

Name: N/A

UniProtKB Accession Codes:

O60931 D3DTJ5 Q8IZ01 Q9UNK6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 20 EMDB 5 Ensembl 3 ExpressionAtlas 1 GO 39 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 6 SMART 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

A0A0S2Z3I9

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChEBI 2 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 3 Gene3D 1 InterPro 2 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 Pfam 1 PhylomeDB 1 RefSeq 4 Rhea 2 SAM 3 SMART 1 SMR 1 VEuPathDB 1

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:

I3L4A9

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CTD 1 ChEBI 2 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 1 GeneTree 1 HGNC 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 3 Rhea 2 SAM 2 SMART 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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. 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.