Details for: CTNS
Associated with
Other Information
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
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
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
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
PubMed ID: 17897319
Title: Integral and associated lysosomal membrane proteins.
PubMed ID: 17897319
PubMed ID: 18337546
Title: Identification and subcellular localization of a new cystinosin isoform.
PubMed ID: 18337546
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
PubMed ID: 22232659
Title: Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
PubMed ID: 22232659
PubMed ID: 25753619
PubMed ID: 27148969
Title: Carboxyl-terminal SSLKG motif of the human cystinosin-LKG plays an important role in plasma membrane sorting.
PubMed ID: 27148969
PubMed ID: 29467429
Title: A genetic screen for investigating the human lysosomal cystine transporter, cystinosin.
PubMed ID: 29467429
PubMed ID: 33208952
Title: MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
PubMed ID: 33208952
PubMed ID: 36113465
Title: Structure and mechanism of human cystine exporter cystinosin.
PubMed ID: 36113465
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
PubMed ID: 10444339
Title: Mutations of CTNS causing intermediate cystinosis.
PubMed ID: 10444339
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
PubMed ID: 10625078
Title: Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
PubMed ID: 10625078
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
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
PubMed ID: 22450360
Title: Two novel CTNS mutations in cystinosis patients in Thailand.
PubMed ID: 22450360
PubMed ID: 21786142
Title: Genetic basis of cystinosis in Turkish patients: a single-center experience.
PubMed ID: 21786142
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
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. 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.