• Gene id: 1497

Gene Summary

• Gene Symbol: CTNS   Gene   UCSC   Ensembl
• Aliases: CTNS-LSB, PQLC4, SLC66A4
• Gene name: cystinosin, lysosomal cystine transporter
• Alternate names: cystinosin, cystinosis nephropathic,
• Gene location: 17p13.2 (53291433: 53289600)     Exons: 1     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 606272

Protein Summary

• Protein general information: O60931  
  • Name: Cystinosin
  • Length: 367  
  • Mass: 41738
  • Tissue specificity: Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represent
• Sequence:

  MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDE
  VVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNW
  RRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCL
  YERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
  NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN

• Structural information:
  • Protein Domains: (123..18-)
    (/note="PQ-loop-1)
    (263..32-)
    (/note="PQ-loop-2")
  • Interpro: IPR005282  IPR006603  
  • STRING: ENSP00000371294
• Other Databases: GeneCards:  CTNS  Malacards:  CTNS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015184	L-cystine transmembrane transporter activity	IBA	molecular function
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0015811	L-cystine transport	IBA	biological process
GO:0005774	vacuolar membrane	IBA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0015184	L-cystine transmembrane transporter activity	TAS	molecular function
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0007616	long-term memory	IEA	biological process
GO:0015184	L-cystine transmembrane transporter activity	IEA	molecular function
GO:0010730	negative regulation of hydrogen peroxide biosynthetic process	IEA	biological process
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:0007625	grooming behavior	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0015811	L-cystine transport	IEA	biological process
GO:0010918	positive regulation of mitochondrial membrane potential	IEA	biological process
GO:0015811	L-cystine transport	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005769	early endosome	IDA	NOT|cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046034	ATP metabolic process	IMP	biological process
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005765	lysosomal membrane	NAS	cellular component
GO:0050890	cognition	IMP	biological process
GO:0015811	L-cystine transport	IMP	biological process
GO:0015811	L-cystine transport	NAS	biological process
GO:0006749	glutathione metabolic process	IMP	biological process
GO:0015184	L-cystine transmembrane transporter activity	IMP	molecular function
GO:0015184	L-cystine transmembrane transporter activity	NAS	molecular function
GO:0015811	L-cystine transport	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0006520	cellular amino acid metabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Cystinosis	KEGG:H00275
Cystinosis	KEGG:H00275
Cystinosis	PMID:18578013
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq