Cell atlas - CTNS - The Human Protein Atlas

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CTNS

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Intermediate filaments
	Vesicles

Human cell
	Intermediate Filaments
	Vesicles

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GENERAL INFORMATION
Gene name	CTNS
Gene description	Cystinosin, lysosomal cystine transporter
Protein class	Disease related genes Potential drug targets Predicted intracellular proteins Predicted membrane proteins Predicted secreted proteins Transporters
Predicted localization	Intracellular,Membrane,Secreted
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the intermediate filaments & vesicles.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Vesicles (supported), Intermediate filaments (approved)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA046947
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the intermediate filaments & vesicles.

Main location

Vesicles (supported), Intermediate filaments (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA046947	A-431	Vesicles
	HPA046947	U-2 OS	Vesicles
	HPA046947	U-2 OS	Intermediate filaments
	HPA046947	U-251 MG	Intermediate filaments

GENE INFORMATION
Gene name	CTNS (HGNC Symbol)
Synonyms	CTNS-LSB, PQLC4
Description	Cystinosin, lysosomal cystine transporter (HGNC Symbol)
Entrez gene summary	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Chromosome	17
Cytoband	p13.2
Chromosome location (bp)	3636468 - 3661542
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000040531 (version 83.38)
Entrez gene	1497
UniProt	O60931 (UniProt - Evidence at protein level)
neXtProt	NX_O60931
Antibodypedia	CTNS antibodies

PROTEIN BROWSER

CTNS-001	CTNS-002	CTNS-003	CTNS-005	CTNS-008	CTNS-009	CTNS-010

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CTNS-001 ENSP00000046640 ENST00000046640	O60931 [Direct mapping] Cystinosin Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005764 [lysosome] GO:0005765 [lysosomal membrane] GO:0005770 [late endosome] GO:0005886 [plasma membrane] GO:0006520 [cellular amino acid metabolic process] GO:0006749 [glutathione metabolic process] GO:0006811 [ion transport] GO:0007420 [brain development] GO:0015184 [L-cystine transmembrane transporter activity] GO:0015811 [L-cystine transport] GO:0016021 [integral component of membrane] GO:0042438 [melanin biosynthetic process] GO:0042470 [melanosome] GO:0043231 [intracellular membrane-bounded organelle] GO:0045111 [intermediate filament cytoskeleton] GO:0046034 [ATP metabolic process] GO:0050890 [cognition] GO:0055085 [transmembrane transport] GO:0070062 [extracellular exosome] Show all	367 aa 41.7 kDa	Yes	6
CTNS-002 ENSP00000371294 ENST00000381870	O60931 [Direct mapping] Cystinosin Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0002088 [lens development in camera-type eye] GO:0005764 [lysosome] GO:0005765 [lysosomal membrane] GO:0005770 [late endosome] GO:0005886 [plasma membrane] GO:0006520 [cellular amino acid metabolic process] GO:0006749 [glutathione metabolic process] GO:0006811 [ion transport] GO:0007420 [brain development] GO:0007616 [long-term memory] GO:0007625 [grooming behavior] GO:0007628 [adult walking behavior] GO:0008542 [visual learning] GO:0015184 [L-cystine transmembrane transporter activity] GO:0015811 [L-cystine transport] GO:0016021 [integral component of membrane] GO:0042438 [melanin biosynthetic process] GO:0042470 [melanosome] GO:0043231 [intracellular membrane-bounded organelle] GO:0045111 [intermediate filament cytoskeleton] GO:0046034 [ATP metabolic process] GO:0050890 [cognition] GO:0055085 [transmembrane transport] GO:0070062 [extracellular exosome] Show all	400 aa 45 kDa	Yes	6
CTNS-003 ENSP00000408652 ENST00000452111	C9JMM9 [Direct mapping] Cystinosin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Show all		75 aa 8.4 kDa	Yes	0
CTNS-005 ENSP00000382245 ENST00000399306	A8MXW3 [Direct mapping] Cystinosin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Show all		122 aa 13.5 kDa	Yes	0
CTNS-008 ENSP00000458457 ENST00000576979	I3L0Z6 [Direct mapping] Cystinosin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all	GO:0016021 [integral component of membrane] Show all	163 aa 18.4 kDa	Yes	1
CTNS-009 ENSP00000461118 ENST00000574776	I3L4A9 [Direct mapping] Cystinosin Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Show all		20 aa 2.4 kDa	No	0
CTNS-010 ENSP00000458912 ENST00000574218	I3L1K8 [Direct mapping] Cystinosin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all	GO:0016021 [integral component of membrane] Show all	28 aa 3.2 kDa	No	1

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.