Property Summary

NCBI Gene PubMed Count 52
Grant Count 41
R01 Count 29
Funding $7,804,927.63
PubMed Score 197.21
PubTator Score 115.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
astrocytoma 1.200 0.001
atypical teratoid / rhabdoid tumor 1.400 0.000
glioblastoma 1.300 0.000
posterior fossa group A ependymoma 1.200 0.000

Gene RIF (27)

PMID Text
25866837 identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS and the other at the acceptor site of exon 8
25811383 cystinosin-deficient cells had abnormal shape and distribution of the endo-lysosomal compartments and impaired endocytosis, with decreased surface expression of multiligand receptors and delayed lysosomal cargo processing.
25326109 We recommend that black South African and Cape Coloured patients presenting with cystinosis be tested for CTNS-c.971-12G > A in the first instance, with the possibility of prenatal testing being offered to at-risk families.
23640116 The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC
22649030 results objectify the pigmentation defect in patients with cystinosis. We also identify the role of CTNS in melanogenesis and add a new gene to the list of the genes involved in the control of skin and hair pigmentation
22544350 CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
22450360 Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.
22363504 Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin]
22232659 cystinosin exports the proteolysis-derived dimeric amino acid cystine from lysosomes and is impaired in cystinosis.
21786142 Report CTNS mutations in Turkish cystinosis patients.
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AA Sequence

MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITIL      1 - 70
ELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSI     71 - 140
SFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSL    141 - 210
HAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVK    211 - 280
YFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFF    281 - 350
IQHFCLYRKRPGYDQLN                                                         351 - 367
//

Text Mined References (55)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25866837 2015 First report of CTNS mutations in a Chinese family with infantile cystinosis.
25811383 2015 Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.
25326109 2015 Common mutation causes cystinosis in the majority of black South African patients.
23640116 2013 The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
22649030 2012 Cystinosin is a melanosomal protein that regulates melanin synthesis.
22544350 2012 Distribution of cystinosin-LKG in human tissues.
22450360 2012 Two novel CTNS mutations in cystinosis patients in Thailand.
22363504 2012 Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.
22232659 2012 Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
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