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2.A.43.1.1
Lysosomal cystine transporter, cystinosin. Uses a cystine:H+ symport mechanism. H+ binds to an aspartate residue in one of the two PQ-loops (Ruivo et al., 2012).

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 Cystine, H+

Cross database links:

Genevestigator: O60931
eggNOG: prNOG15325
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

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

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