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2.A.43.1.1
Lysosomal cystine transporter, cystinosin (CTNS) of 267 aas and 7 TMSs. It uses a cystine:H+ symport mechanism. H+ binds to an aspartate residue in one of the two PQ-loops (Ruivo et al., 2012). Several mutations in the CTNS gene gives rise to ocular cystinosis (Browning et al. 2019). Microvesicle delivery of cystinosin to ex vivo corneal keratocytes (corneal fibroblasts) corrects the cystine transport defect and prevents the accumulation of lysosomal cystine (Thoene et al. 2020). Impaired transport of cystine out of lysosomes is associated with mutations in transmembrane domains of cystinosin, resulting from loss of its activity (Chkioua et al. 2022). Cystinosis is characterized by early-onset chronic kidney failure and progressive development of extra-renal complications (Taranta et al. 2021). There is residual cystine transport activity for specific infantile and juvenile CTNS mutations (Medaer et al. 2024).

Accession Number:O60931
Protein Name:CTNS
Length:367
Molecular Weight:41738.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:7
Location1 / Topology2 / Orientation3: Lysosome membrane1 / Multi-pass membrane protein2
Substrate hydron, cystine

Cross database links:

RefSeq: NP_001026851.2    NP_004928.2   
Entrez Gene ID: 1497   
OMIM: 219750  phenotype
219800  phenotype
219900  phenotype
606272  gene
KEGG: hsa:1497   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005770 C:late endosome
GO:0005765 C:lysosomal membrane
GO:0015184 F:L-cystine transmembrane transporter activity
GO:0046034 P:ATP metabolic process
GO:0007420 P:brain development
GO:0006520 P:cellular amino acid metabolic process
GO:0050890 P:cognition
GO:0006749 P:glutathione metabolic process
GO:0015811 P:L-cystine transport

References (12)

[1] “A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.”  Town M.et.al.   9537412
[2] “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.”  Touchman J.W.et.al.   10673275
[3] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[4] “DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.”  Zody M.C.et.al.   16625196
[5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[6] “Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).”  Anikster Y.et.al.   10068513
[7] “CTNS mutations in patients with cystinosis.”  Anikster Y.et.al.   10571941
[8] “CTNS mutations in an American-based population of cystinosis patients.”  Shotelersuk V.et.al.   9792862
[9] “Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.”  McGowan-Jordan J.et.al.   10482956
[10] “Mutations of CTNS causing intermediate cystinosis.”  Thoene J.et.al.   10444339
[11] “Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.”  Attard M.et.al.   10556299
[12] “Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.”  Kalatzis V.et.al.   12442267

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
1:	MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI 
61:	TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS 
121:	SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL 
181:	LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF 
241:	LVLAWLFAFV TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG 
301:	NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR 
361:	PGYDQLN