CTNS

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 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

3539762 - 3564836

Ensembl

ENSG00000040531 (version 73.37)

Entrez gene

1497

UniProt

O60931 (UniProt - Evidence at protein level)

neXtProt

NX_O60931

Antibodypedia

CTNS antibodies
 

PROTEIN VIEW

? »
 
 
 
CTNS-001
 
CTNS-002
 
CTNS-003
 
CTNS-005
 
CTNS-006
 
CTNS-008
 
CTNS-009
 
CTNS-010
 
CTNS-201
 
CTNS-202
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CTNS-001 ENSP00000046640
ENST00000046640
O60931
Show all »
Show » Show » 367 41.7 Yes 6
CTNS-002 ENSP00000371294
ENST00000381870
O60931
Show all »
Show » Show » 400 45 Yes 6
CTNS-003 ENSP00000408652
ENST00000452111
C9JMM9
Show all »
Show » 75 8.4 Yes 0
CTNS-005 ENSP00000382245
ENST00000399306
A8MXW3
Show all »
Show » 122 13.5 Yes 0
CTNS-006 ENSP00000461056
ENST00000467663
I3L484
Show all »
53 6 Yes 0
CTNS-008 ENSP00000458457
ENST00000576979
I3L0Z6
Show all »
Show » Show » 163 18.4 Yes 1
CTNS-009 ENSP00000461118
ENST00000574776
I3L4A9
Show all »
Show » 20 2.4 Yes 0
CTNS-010 ENSP00000458912
ENST00000574218
I3L1K8
Show all »
Show » Show » 28 3.2 No 1
CTNS-201 ENSP00000395471
ENST00000414524
F5H4I4
Show all »
Show » Show » 220 25.3 No 5
CTNS-202 ENSP00000411465
ENST00000441220
F8W6Z1
Show all »
Show » Show » 292 33.2 No 6