Harmonizome 3.0

cystinosin, lysosomal cystine transporter

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]

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cystine knot, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycoprotein hormone subunit beta, cystine knot protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cystine-knot cytokine protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term knot in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA binding activity-knot of a chromodomain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha/beta knot methyltransferases protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal enamel knot morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Knot (Abnormality) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal enamel knot morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Enamel knot in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Primary enamel knot in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Secondary enamel knot in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Cystine from the curated CTD Gene-Chemical Interactions dataset.

From DrugBank Drug Targets

interacting proteins for the L-Cystine drug from the curated DrugBank Drug Targets dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cystine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Biological Process Annotations 2015

genes participating in the l-cystine transport biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-cystine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the cystine secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the l-cystine l-cysteine-lyase (deaminating) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From HMDB Metabolites of Enzymes

interacting proteins for the L-Cystine metabolite from the curated HMDB Metabolites of Enzymes dataset.

From HPO Gene-Disease Associations

genes associated with the elevated intracellular cystine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysosomal cystine transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Elevated Intracellular Cystine in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GO Biological Process Annotations 2023

genes participating in the L-cystine transport biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the L-cystine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the L-cystine L-cysteine-lyase (deaminating) molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the cystine secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From MW Enzyme Metabolite Associations

interacting proteins for Cystine metabolite from the MW Gene Metabolite Associations dataset.

From GO Biological Process Annotations 2025

genes participating in the L-cystine transport biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the L-cystine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the L-cystine L-cysteine-lyase (deaminating) molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cystine urolithiasis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.