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FLASH GENE

Symbol

CTNS

contributors: mct - updated : 17-11-2012

HGNC name	cystinosin, lysosomal cystine transporter
HGNC id	2518

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CLOJ cystinosis, late-onset juvenile or adolescent nephropathic type CONP cystinosis, adult nonnephropathic CTNS cystinosis, infantile, nephropathic
Location	17p13.3      Physical location : 3.539.761 - 3.566.396
Synonym name	cystinosin
Synonym symbol(s)	CTNS-LSB, PQLC4

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	26.64 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
	Binding site
text structure	SP1 binding site arranged in tandem with CARKL

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001031681 13 splicing 4042 NP_001026851 44 400 - Gao NM_004937 12 splicing 4431 NP_004928 41 367 - Gao cystinosin-LKG 11 - - - - . expressed in the plasma membrane, in lysosomes, and in other cytosolic structures, in the endoplasmic reticulum and in the Golgi apparatus . in renal tubular structures 2008 18337546 alternative splicing of exon 12 that removes the GYDQL motif

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Digestive liver       moderately Endocrine neuroendocrine pituitary     highly Nervous nerve cranial nerve     highly Reproductive female system uterus cervix   highly Skin/Tegument skin appendages hair       Homo sapiens Urinary kidney tubule convoluted tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, brain, kidney, liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an intraluminal N terminal uncleavable peptide signal
	seven transmembrane segments
	a strong positive charge near the C terminus
	two signals targeting the protein to the lysosomal compartment, one of which is located at the C-terminal tail (GYDQL)

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus Ctns (83.3pc)
	ortholog to murine Ctns (83.9pc)
	ortholog to yeast Ers1

Homologene

FAMILY

cystinosin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	involved in cystine transport across the lysosomal membrane
	actively regulated at the transcriptional and posttranscriptional level, suggesting that CTNS plays a pivotal role in regulating cell thiol concentrations
	cystine/H(+) symporter that exports cystine out of the lysosomes
	role of CTNS in melanogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	transport cystine out of lysosomes

PATHWAY

metabolism

aminoacid

signaling

HT driven transporter responsible for cystine export from lysosomes

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CTNS , CLOJ , CONP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         led to a 75p100 reduction of melanin synthesis that was caused by a degradation of tyrosinase by lysosomal proteases

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Cystinosin-deficient mice showed a 4-fold increase in hair pheomelanin content
	measurement of CVI (crystal volume index) in the Ctns(-/-) mouse may be used as a model to develop novel therapeutic strategies for treating corneal cystinosis