Ctns cystinosin, lysosomal cystine transporter [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ctnsprovided by RGD
Official Full Name: cystinosin, lysosomal cystine transporterprovided by RGD
Primary source: RGD:1308466
See related: Ensembl:ENSRNOG00000028688 AllianceGenome:RGD:1308466
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable L-cystine transmembrane transporter activity and solute:proton symporter activity. Involved in L-cystine transport; negative regulation of hydrogen peroxide biosynthetic process; and positive regulation of mitochondrial membrane potential. Predicted to be located in several cellular components, including cytoplasmic vesicle; intermediate filament cytoskeleton; and lysosome. Predicted to be active in lysosomal membrane. 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: Biased expression in Kidney (RPKM 60.2), Lung (RPKM 44.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q24

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (58300069..58315725, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (57801551..57817213, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (59749250..59772475, complement)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results indicated that the F344-Ctns(ugl) rat provides a novel rat model of cystinosis, which allows not only a better understanding of the pathogenesis and pathophysiology of cystinosis but will also contribute to the development of new therapies
Title: A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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	ISO Inferred from Sequence Orthology more info
enables solute:proton symporter activity	ISO Inferred from Sequence Orthology 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
involved_in 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
involved_in L-cystine transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	ISO Inferred from Sequence Orthology more info
involved_in brain development	ISO Inferred from Sequence Orthology more info
involved_in brush border assembly	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lens development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within long-term memory	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hydrogen peroxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of thyroid hormone generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in proximal tubule morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal glucose absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal phosphate ion absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal water absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
NOT located_in early endosome	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cystinosin

Names: cystinosis, nephropathic

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_001191647.1 → NP_001178576.1 cystinosin precursor

See identical proteins and their annotated locations for NP_001178576.1

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000010

UniProtKB/TrEMBL

A6HGI6

Conserved Domains (2) summary

TIGR00951
Location:125 → 357

2A43; Lysosomal Cystine Transporter

pfam04193
Location:128 → 185

PQ-loop; PQ loop repeat