Ctns cystinosis, nephropathic [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ctnsprovided by MGI
Official Full Name: cystinosis, nephropathicprovided by MGI
Primary source: MGI:MGI:1932872
See related: Ensembl:ENSMUSG00000005949 AllianceGenome:MGI:1932872
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables L-cystine transmembrane transporter activity. Involved in positive regulation of TORC1 signaling. Acts upstream of or within several processes, including adult walking behavior; grooming behavior; and learning or memory. Located in lysosome. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 8.3), mammary gland adult (RPKM 7.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B4; 11 45.25 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (73073959..73089869, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (73183133..73199115, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Title: Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Loss of CTNS expression is associated with bone loss.
Title: Intrinsic Bone Defects in Cystinotic Mice.
LAMP2A trafficking is regulated by cystinosin, Rab11, and RILP and that CMA up-regulation is a potential clinically relevant mechanism to increase cell survival in cystinosis.
Title: Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.
Data indicate that hematopoietic stem cell (HSC) transplantation in cystinosin knockout (Ctns-/-) thyroid drastically decreased cystine accumulation and normalized the thyroid-stimulating hormone level.
Title: Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
Cells and tissues lacking CTNS expression are characterized by increased autophagosome numbers, but functional macroautophagic flux.
Title: Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
The onset of Fanconi syndrome in knockout mice is between 3 and 6 months of age with structural and functional changes in proximal tubular cells (PTCs), with focus on endocytosis of ultrafiltrated disulfide-rich proteins as a key source of cystine.
Title: Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.
The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis.
Title: Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model.
Deletion of cystinosis gene (Ctns) causes corneal cystine crystals formation, neovascularization and scarring in the cornea of ctns transgenic mice mimicking cystinosis in humans.
Title: Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.
the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase
Title: A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
Data provide the proof-of-concept that gene transfer is feasible for correcting defective lysosomal transport, but suggest that, in the case of cystinosis, it could be preventive but not curative in some tissues.
Title: Gene transfer may be preventive but not curative for a lysosomal transport disorder.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (1) 1 citation

General gene information

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Markers

RH135946 (e-PCR)
- UniSTS:209942

AW049661 (e-PCR)
- UniSTS:180247

Ctns (e-PCR), detects polymorphism
- UniSTS:225829

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-cystine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-cystine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-cystine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-cystine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables solute:proton symporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-cystine transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within L-cystine transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within L-cystine transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within L-cystine transport	ISO Inferred from Sequence Orthology more info	PubMed
involved_in L-cystine transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	ISO Inferred from Sequence Orthology more info
involved_in brush border assembly	ISO Inferred from Sequence Orthology more info
involved_in cognition	ISO Inferred from Sequence Orthology more info
involved_in glutathione metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within grooming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hydrogen peroxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of thyroid hormone generation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in proximal tubule morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of melanin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in renal albumin absorption	ISO Inferred from Sequence Orthology more info
involved_in renal glucose absorption	ISO Inferred from Sequence Orthology more info
involved_in renal phosphate ion absorption	ISO Inferred from Sequence Orthology more info
involved_in renal water absorption	ISO Inferred from Sequence Orthology more info
involved_in thyroid gland development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info	PubMed
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: cystinosin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001357891.1 → NP_001344820.1 cystinosin precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK054467, AK137143, AW049661

Consensus CDS

CCDS25001.1

UniProtKB/Swiss-Prot

P57757

UniProtKB/TrEMBL

Q3TC99, Q542U5

Related

ENSMUSP00000104116.2, ENSMUST00000108476.8

Conserved Domains (1) summary

TIGR00951
Location:125 → 357

2A43; Lysosomal Cystine Transporter
NM_001357892.1 → NP_001344821.1 cystinosin precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AK054467, AK137143, AW049661

Consensus CDS

CCDS25001.1

UniProtKB/Swiss-Prot

P57757

UniProtKB/TrEMBL

Q3TC99, Q542U5

Conserved Domains (1) summary

TIGR00951
Location:125 → 357

2A43; Lysosomal Cystine Transporter
NM_031251.4 → NP_112541.1 cystinosin precursor

See identical proteins and their annotated locations for NP_112541.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AL670399

Consensus CDS

CCDS25001.1

UniProtKB/Swiss-Prot

P57757

UniProtKB/TrEMBL

Q3TC99, Q542U5

Related

ENSMUSP00000006103.3, ENSMUST00000006103.9

Conserved Domains (1) summary

TIGR00951
Location:125 → 357

2A43; Lysosomal Cystine Transporter