CTNS report

I. Expression across cell types

Insufficient scRNA-seq data for expression of CTNS at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of CTNS at tissue level.

III. Associated gene sets

GO_0007628Biological processadult walking behavior
GO_0007625Biological processgrooming behavior
GO_2000611Biological processpositive regulation of thyroid hormone generation
GO_0055085Biological processtransmembrane transport
GO_1903432Biological processregulation of TORC1 signaling
GO_0042438Biological processmelanin biosynthetic process
GO_0007616Biological processlong-term memory
GO_0006811Biological processmonoatomic ion transport
GO_0097291Biological processrenal phosphate ion absorption
GO_0035623Biological processrenal glucose absorption
GO_0030878Biological processthyroid gland development
GO_0046034Biological processATP metabolic process
GO_0072158Biological processproximal tubule morphogenesis
GO_0008542Biological processvisual learning
GO_0097018Biological processrenal albumin absorption
GO_0070295Biological processrenal water absorption
GO_0048021Biological processregulation of melanin biosynthetic process
GO_0043066Biological processnegative regulation of apoptotic process
GO_1904970Biological processbrush border assembly
GO_0007420Biological processbrain development
GO_0002088Biological processlens development in camera-type eye
GO_0050890Biological processcognition
GO_0015031Biological processprotein transport
GO_0015811Biological processL-cystine transport
GO_1904263Biological processpositive regulation of TORC1 signaling
GO_0010918Biological processpositive regulation of mitochondrial membrane potential
GO_0010730Biological processnegative regulation of hydrogen peroxide biosynthetic process
GO_0006520Biological processamino acid metabolic process
GO_0006749Biological processglutathione metabolic process
GO_1902600Biological processproton transmembrane transport
GO_0005886Cellular componentplasma membrane
GO_0005769Cellular componentearly endosome
GO_0005764Cellular componentlysosome
GO_0070062Cellular componentextracellular exosome
GO_0033162Cellular componentmelanosome membrane
GO_0005770Cellular componentlate endosome
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0005765Cellular componentlysosomal membrane
GO_0042470Cellular componentmelanosome
GO_0015295Molecular functionsolute:proton symporter activity
GO_0015184Molecular functionL-cystine transmembrane transporter activity

IV. Literature review

[source]
Gene nameCTNS
Protein nameCystinosis nephropathic isoform 3
Cystinosis nephropathic isoform 1
Cystinosin, lysosomal cystine transporter
Cystinosis nephropathic isoform 2
Cystinosin, lysosomal cystine transporter (Cystinosis nephropathic isoform 4)
Cystinosin
CTNS protein
Synonyms
DescriptionFUNCTION: Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes . Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis . In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes . Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity). .

AccessionsENST00000467663.5
I3L484
ENST00000576979.1
C9JMM9
ENST00000452111.5
ENST00000673965.1 [O60931-1]
A0A669KB82
A0A0S2Z3L5
I3L0Z6
ENST00000381870.8 [O60931-2]
ENST00000399306.7
A0A0S2Z3I9
ENST00000488623.6
A0A0S2Z3K3
ENST00000046640.9 [O60931-1]
ENST00000673669.1
ENST00000574776.6
ENST00000574218.1
A8MXW3
O60931
I3L1K8
A0A669KAZ5
I3L4A9
Q6FGP9