CTNS - cystinosin, lysosomal cystine transporter Gene

Also Known as PQLC4; SLC66A4; CTNS-LSB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1497

About CTNS

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,636,459-3,663,103 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and is associated with 8 phenotypes. Ubiquitous expression in testis (RPKM 9.6), adrenal (RPKM 5.7) and 25 other tissues.

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]

CTNS Products (7)

mRNA	Protein	Name
NM_001031681.3	NP_001026851.2	cystinosin isoform 1 precursor
NM_001374492.1	NP_001361421.1	cystinosin isoform 1 precursor
NM_001374493.1	NP_001361422.1	cystinosin isoform 3
NM_001374494.1	NP_001361423.1	cystinosin isoform 3
NM_001374495.1	NP_001361424.1	cystinosin isoform 3
NM_001374496.1	NP_001361425.1	cystinosin isoform 3
NM_004937.3	NP_004928.2	cystinosin isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-cystine transmembrane transporter activity	IDA IDA: Inferred from direct assay	11689434	GOA
enables L-cystine transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	15128704	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables solute:proton symporter activity	IDA IDA: Inferred from direct assay	11689434	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ATP metabolic process	IMP IMP: Inferred from mutant phenotype	16439594	GOA
acts upstream of or within L-cystine transport	IDA IDA: Inferred from direct assay	18337546	GOA
involved in L-cystine transport	IDA IDA: Inferred from direct assay	11689434	GOA
involved in L-cystine transport	IMP IMP: Inferred from mutant phenotype	7112129	GOA
involved in brain development	IMP IMP: Inferred from mutant phenotype	17471495	GOA
involved in cognition	IMP IMP: Inferred from mutant phenotype	17471495	GOA
involved in glutathione metabolic process	IMP IMP: Inferred from mutant phenotype	15956064	GOA
involved in regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	36113465	GOA
involved in regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	22649030	GOA

Cellular Component GO Annotation	Evidence	References	Source
NOT located in early endosome	IDA IDA: Inferred from direct assay	11150305	GOA
located in late endosome	IDA IDA: Inferred from direct assay	15128704	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	11150305	GOA
located in lysosome	IDA IDA: Inferred from direct assay	11855931	GOA
located in melanosome	IDA IDA: Inferred from direct assay	22649030	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18337546	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTNS Protein Structure

PQ-loop

0
100
200
300
367 a.a.

Protein Preferred Names	Protein Names
cystinosin	cystinosis nephropathic

Related Diseases

Diseases	Alias
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Juvenile Nephropathic Cystinosis Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Cystinosis, Intermediate Intermediate Cystinosis Juvenile Cystinosis CTNSJAN Cystinosis Intermediate
Cystinosis, Adult Nonnephropathic	Cystinosis, Ocular Nonnephropathic Ocular Cystinosis Cystinosis, Benign Nonnephropathic Adult-Onset Cystinosis Non-Nephropathic Cystinosis Cystinosis, Adult, Non-Nephropathic Type CTNSANN Cystinosis Adult Nonnephropathic Cystinosis Benign Nonnephropathic Cystinosis Ocular Nonnephropathic Cystinosis, Benign, Nonnephropathic
Cystinosis, Nephropathic	Cystinosis, Atypical Nephropathic Nephropathic Cystinosis CTNS Lysosomal Cystine Transport Protein, Defect Of Cystinosin, Defect Of Cystinosis, Nephropathic Type Cystinosis Atypical Nephropathic Cystinosis Infantile Nephropathic Defect Of Cystinosin Defect Of Lysosomal Cystine Transport Protein Fanconi Syndrome
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Corneal Dystrophy, Band-Shaped	Band Keratopathy Band-Shaped Keratopathy
Conjunctival Deposit
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Corneal Deposit	Deposits - Cornea
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Corneal Degeneration	Degenerative Corneal Opacity
Filamentary Keratitis
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03313	CTNS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CTNS	MGD	MGI:1932872
Felis catus	CTNS	VGNC	VGNC:61259
Rattus norvegicus	CTNS	RGD	RGD:1308466
Macaca mulatta	CTNS	VGNC	VGNC:71548
Bos taurus	CTNS	VGNC	VGNC:27807
Canis familiaris	CTNS	VGNC	VGNC:39703
Others	CTNS	NCBI