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0CTNS_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameCTNS
DescriptionCystinosin.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005765 lysosomal membrane (TAS)
0015184 L-cystine transporter activity (TAS)
0006520 amino acid metabolism (TAS)
0015811 L-cystine transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This repeated motif of unknown function has been found between the transmembrane helices of cystinosin.eastERS1 and mannose-P-dolichol utilization defect 1. The positioning of this repeat suggests that it may beassociated with the glycosylation machinery.
  IPR006603:Cystinosin/ERS1p repeat
Most of the members of this family are integral membrane lysosomal proteins and they are thought to transport cystines out of lysosomes.
  IPR005282:Lysosomal cystine transporter
IPR006603:PQ-loop 
Evalue:-25.9586067199707 
Location:123-189IPR006603:PQ-loop 
Evalue:-8.95860767364502 
Location:263-328
SequencesProtein: CTNS_HUMAN (367 aa)
mRNA: NM_004937
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 37 residues, 3486764-3486874Exon2: 72 residues, 3487149-3487359Exon3: 28 residues, 3490230-3490310Exon4: 28 residues, 3497486-3497565Exon5: 30 residues, 3498889-3498974Exon6: 36 residues, 3505040-3505144Exon7: 46 residues, 3505263-3505395Exon8: 35 residues, 3506529-3506629Exon9: 42 residues, 3506718-3506838Exon10: 59 residues, 3508047-3508218Exon11: 41 residues, 3509900-3510018Exon12: 436 residues, 3510278-3511581Exon13: 2 residues, -Jump to CTNS_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 4249 2912712-2913651 ~-1K 14853(OR1D5)(-)Loci: 4250 2976653-2977595 ~-1K 14854(OR1G1)(-)Loci: 4251 3127934-3129018 ~-1K 14856(OR3A2)(-)Loci: 2967 3270617-3271577 ~-1K 14858(OR3A3)(+)Loci: 2968 3486764-3511581 ~-25K 14869(CTNS)(+)Loci: 2969 3573945-3576739 ~-3K 14877(GSG2)(+)Loci: 4252 3710373-3743086 ~-33K 14879(CAMKK1)(-)Loci: 4253 3773917-3814485 ~-41K 14884(ATP2A3)(-)Loci: 4254 4013949-4114000 ~-100K 14897(ANKFY1)(-)Loci: 2966 2443685-2535638 ~-92K 14848(PAFAH1B1)(+)Link out to UCSC