CTNS (cystinosin, lysosomal cystine transporter)

2017-04-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
CTNS-LSB,PQLC4,SLC66A4
FUSION GENES

Other Information

Locus ID:

NCBI: 1497
MIM: 606272
HGNC: 2518
Ensembl: ENSG00000040531

Variants:

dbSNP: 1497
ClinVar: 1497
TCGA: ENSG00000040531
COSMIC: CTNS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000040531ENST00000046640O60931
ENSG00000040531ENST00000046640A0A0S2Z3K3
ENSG00000040531ENST00000381870O60931
ENSG00000040531ENST00000381870A0A0S2Z3I9
ENSG00000040531ENST00000399306A8MXW3
ENSG00000040531ENST00000452111C9JMM9
ENSG00000040531ENST00000467663I3L484
ENSG00000040531ENST00000574218I3L1K8
ENSG00000040531ENST00000574776I3L4A9
ENSG00000040531ENST00000576979I3L0Z6
ENSG00000040531ENST00000673965A0A0S2Z3K3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

References

Pubmed IDYearTitleCitations
269945762016Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.27
158850992005ERS1 encodes a functional homologue of the human lysosomal cystine transporter.25
223635042012Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.16
258113832015Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.16
176437772007Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.15
222326592012Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.14
124422672002Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.13
171372172006Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.13
217861422012Genetic basis of cystinosis in Turkish patients: a single-center experience.12
204139062010A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?10

Citation

Dessen P

CTNS (cystinosin, lysosomal cystine transporter)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56863/ctns