{ "uniprot_canonical_ac": "O60931-1", "uniprot_ac": "O60931", "uniprot_id": "CTNS_HUMAN", "mass": { "chemical_mass": 41738.0, "monoisotopic_mass": 41738.0 }, "refseq": { "ac": "NP_001026851", "name": "cystinosin isoform 1 precursor", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" }, "gene_names": [ { "name": "CTNS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60931", "id": "O60931" }, { "name": "CTNS-LSB; PQLC4; SLC66A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851", "id": "NP_001026851" }, { "name": "CTNS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851", "id": "NP_001026851" } ], "protein_names": [ { "name": "Cystinosin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60931" }, { "name": "cystinosin isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851", "id": "NP_001026851" }, { "name": "cystinosis nephropathic", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851", "id": "NP_001026851" } ], "function": [ { "annotation": "Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" }, { "database": "PubMed", "id": "35445972", "url": "https://glygen.org/publication/PubMed/35445972" } ] }, { "annotation": "Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (PubMed:36113465). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931#function" }, { "database": "PubMed", "id": "22649030", "url": "https://glygen.org/publication/PubMed/22649030" }, { "database": "PubMed", "id": "18337546", "url": "https://glygen.org/publication/PubMed/18337546" }, { "database": "UniProtKB", "id": "P57757", "url": "https://www.uniprot.org/uniprot/P57757#function" }, { "database": "PubMed", "id": "33208952", "url": "https://glygen.org/publication/PubMed/33208952" }, { "database": "PubMed", "id": "15128704", "url": "https://glygen.org/publication/PubMed/15128704" }, { "database": "PubMed", "id": "11689434", "url": "https://glygen.org/publication/PubMed/11689434" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "annotation": "Cystinosis and two rare mutations in CTNS gene: two case reports. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" }, { "database": "PubMed", "id": "35513889", "url": "https://glygen.org/publication/PubMed/35513889" } ] }, { "annotation": "Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" }, { "database": "PubMed", "id": "35524314", "url": "https://glygen.org/publication/PubMed/35524314" } ] }, { "annotation": "Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" }, { "database": "PubMed", "id": "38069326", "url": "https://glygen.org/publication/PubMed/38069326" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851" } ] } ], "disease": [ { "disease_id": "DOID:1064", "recommended_name": { "id": "DOID:1064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "name": "cystinosis", "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17." }, "synonyms": [ { "id": "DOID:1064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "name": "cystine storage disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "nephropathic cystinosis", "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden Kaufmann Lignac syndrome", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden Lignac Kaufmann disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden-Kaufmann-Lignac syndrome", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden-Lignac-Kaufmann disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "CTNS", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "cystinosis, atypical nephropathic", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "cystinosis, nephropathic", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "intermediate cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, intermediate", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "adult-onset cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "non-nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ADULT NONNEPHROPATHIC", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, benign Nonnephropathic", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ocular Nonnephropathic", "description": "" }, { "id": "MIM:219800", "resource": "MIM", "url": "https://www.omim.org/entry/219800", "name": "Cystinosis, nephropathic type", "description": "Cystinosis, nephropathic type" }, { "id": "MIM:219900", "resource": "MIM", "url": "https://www.omim.org/entry/219900", "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type" }, { "id": "MIM:219750", "resource": "MIM", "url": "https://www.omim.org/entry/219750", "name": "Cystinosis, adult, non-nephropathic type", "description": "Cystinosis, adult, non-nephropathic type" } ], "evidence": [ { "id": "219750", "database": "MIM", "url": "https://www.omim.org/entry/219750" }, { "id": "219800", "database": "MIM", "url": "https://www.omim.org/entry/219800" }, { "id": "219900", "database": "MIM", "url": "https://www.omim.org/entry/219900" } ] } ], "snv": [ { "evidence": [ { "id": "rs769666218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769666218#frequency_tab" }, { "id": "rs769666218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769666218" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->DQT).", "chr_id": "17", "chr_pos": "3655091", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769666218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769666218#frequency_tab" }, { "id": "rs769666218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769666218" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->HQT).", "chr_id": "17", "chr_pos": "3655091", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769666218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769666218" }, { "id": "rs769666218", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769666218#frequency_tab" }, { "id": "rs769666218", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769666218" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->YQT).", "chr_id": "17", "chr_pos": "3655091", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555562830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555562830" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->nullQT).", "chr_id": "17", "chr_pos": "3655092_3655095", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N107", "disease": [ { "disease_id": "DOID:1064", "recommended_name": { "id": "DOID:1064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "name": "cystinosis", "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "intermediate cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, intermediate", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "Ocular cystinosis 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"https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, benign Nonnephropathic", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ocular Nonnephropathic", "description": "" }, { "id": "MIM:219800", "resource": "MIM", "url": "https://www.omim.org/entry/219800", "name": "Cystinosis, nephropathic type", "description": "Cystinosis, nephropathic type" }, { "id": "MIM:219900", "resource": "MIM", "url": "https://www.omim.org/entry/219900", "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type" }, { "id": "MIM:219750", "resource": "MIM", "url": "https://www.omim.org/entry/219750", "name": "Cystinosis, adult, non-nephropathic type", "description": "Cystinosis, adult, non-nephropathic type" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "intermediate cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, intermediate", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "adult-onset cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "non-nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ADULT NONNEPHROPATHIC", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, benign Nonnephropathic", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ocular Nonnephropathic", "description": "" }, { "id": "MIM:219800", "resource": "MIM", "url": "https://www.omim.org/entry/219800", "name": "Cystinosis, nephropathic type", "description": "Cystinosis, nephropathic type" }, { "id": "MIM:219900", "resource": "MIM", "url": "https://www.omim.org/entry/219900", "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type" }, { "id": "MIM:219750", "resource": "MIM", "url": "https://www.omim.org/entry/219750", "name": "Cystinosis, adult, non-nephropathic type", "description": "Cystinosis, adult, non-nephropathic type" } ] } ] } ], "mutagenesis": [ { "start_pos": 131, "end_pos": 131, "sequence_org": "G", "sequence_mut": "D", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 131, "end_pos": 131, "sequence_org": "G", "sequence_mut": "S", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "Y", "sequence_mut": "A", "comment": "Nearly abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 134, "end_pos": 134, "sequence_org": "Y", "sequence_mut": "F", "comment": "Nearly abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 137, "end_pos": 137, "sequence_org": "A", "sequence_mut": "V", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 138, "end_pos": 138, "sequence_org": "W", "sequence_mut": "F", "comment": "Abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 142, "end_pos": 142, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 143, "end_pos": 143, "sequence_org": "Y", "sequence_mut": "F", "comment": "Slightly decreased midpoint potential. Impaired dielectric distance.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 145, "end_pos": 145, "sequence_org": "Q", "sequence_mut": "A", "comment": "Increased cystine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 152, "end_pos": 152, "sequence_org": "R", "sequence_mut": "Q", "comment": "Impaired dielectric distance.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 161, "end_pos": 161, "sequence_org": "D", "sequence_mut": "N", "comment": "Strongly reduced steady-state transport current. Slightly decreased midpoint potential.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 166, "end_pos": 166, "sequence_org": "N", "sequence_mut": "A", "comment": "Abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 170, "end_pos": 170, "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly decreased cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 205, "end_pos": 205, "sequence_org": "D", "sequence_mut": "A", "comment": "Nearly abolished cystine transport. Impaired pH-dependent conformational shift.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 205, "end_pos": 205, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished steady-state transport current. Decreased midpoint potential.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 205, "end_pos": 205, "sequence_org": "D", "sequence_mut": "N", "comment": "Nearly abolished cystine transport. Impaired pH-dependent conformational shift.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "H", "sequence_mut": "F", "comment": "Accelerated the time course.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 270, "end_pos": 270, "sequence_org": "S", "sequence_mut": "T", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 273, "end_pos": 273, "sequence_org": "K", "sequence_mut": "Q", "comment": "Abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 274, "end_pos": 274, "sequence_org": "L", "sequence_mut": "F", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 280, "end_pos": 280, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 280, "end_pos": 288, "sequence_org": "KYFPQAYMN", "sequence_mut": "", "comment": "In delta(A) mutant; abolished localization to the lysosome; when associated with deletion of 362-G--L-366.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 281, "end_pos": 281, "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly decreased cystine transport. Decreased midpoint potential. Accelerated the time course.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 281, "end_pos": 284, "sequence_org": "YFPQ", "sequence_mut": "AAAA", "comment": "In mu(a) mutant; abolished localization to the lysosome; when associated with deletion of 362-G--L-366.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 284, "end_pos": 284, "sequence_org": "Q", "sequence_mut": "A", "comment": "Increased cystine uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 286, "end_pos": 289, "sequence_org": "YMNF", "sequence_mut": "AAAA", "comment": "In mu(b) mutant; does not abolish localization to the lysosome; when associated with deletion of 362-G--L-366.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 289, "end_pos": 298, "sequence_org": "FYYKSTEGWS", "sequence_mut": "", "comment": "In delta(B) mutant; does not abolish localization to the lysosome; when associated with deletion of 362-G--L-366.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 301, "end_pos": 301, "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly decreased cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "D", "sequence_mut": "E", "comment": "Abolished steady-state transport current.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 305, "end_pos": 305, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished cystine transport. Abolished transient cxurrents. Abolished steady-state transport current.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 309, "end_pos": 309, "sequence_org": "G", "sequence_mut": "C", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 309, "end_pos": 309, "sequence_org": "G", "sequence_mut": "S", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 312, "end_pos": 312, "sequence_org": "S", "sequence_mut": "N", "comment": "Gain-of-function mutant that shows higher transport of cystine.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "Q", "sequence_mut": "A", "comment": "Strongly decreased cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 335, "end_pos": 335, "sequence_org": "K", "sequence_mut": "A", "comment": "Nearly abolished cystine transport.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 335, "end_pos": 335, "sequence_org": "K", "sequence_mut": "Q", "comment": "Abolished steady-state transport current. Decreased midpoint potential. Impaired dielectric distance. Accelerated the time course.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "22232659", "url": "https://glygen.org/publication/PubMed/22232659" } ] }, { "start_pos": 346, "end_pos": 346, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished pH-dependent conformational shift.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "36113465", "url": "https://glygen.org/publication/PubMed/36113465" } ] }, { "start_pos": 362, "end_pos": 362, "sequence_org": "G", "sequence_mut": "A", "comment": "Does not affect localization to the lysosome.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 362, "end_pos": 366, "sequence_org": "GYDQL", "sequence_mut": "", "comment": "Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane. Abolished localization to the lysosome; when associated with 281-A--A-284 or deletion of 280-K--N-288. Does not abolish localization to the lysosome; when associated with 286-A--A-289 or deletion of 289-F--S-298.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 363, "end_pos": 363, "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 364, "end_pos": 364, "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect localization to the lysosome.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 365, "end_pos": 365, "sequence_org": "Q", "sequence_mut": "A", "comment": "Does not affect localization to the lysosome.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "start_pos": 366, "end_pos": 366, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" }, { "database": "PubMed", "id": "29467429", "url": "https://glygen.org/publication/PubMed/29467429" } ] }, { "start_pos": 66, "end_pos": 66, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreased glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "PubMed", "id": "28082515", "url": "https://glygen.org/publication/PubMed/28082515" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000040531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000040531" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "59.41", 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"database": "BioXpress", "id": "O60931", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60931" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60931" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60931", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60931" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"header": "tr|A0A669KAZ5-1|A0A669KAZ5_HUMAN Computationally mapped isoform of Cystinosin, lysosomal cystine transporter OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=1 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3660366, "end_pos": 3658077, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488623.6", "url": "https://www.ensembl.org/id/ENST00000488623.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000501016.1", "url": "https://www.ensembl.org/id/ENSP00000501016.1" } ] } }, { "isoform_ac": "A0A669KB82-1", "url": "", "sequence": { "sequence": "MNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN", "length": 220, "header": "tr|A0A669KB82-1|A0A669KB82_HUMAN Computationally mapped isoform of Cystinosin, lysosomal cystine transporter OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=1 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3660366, "end_pos": 3655333, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673669.1", "url": "https://www.ensembl.org/id/ENST00000673669.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501123.1", "url": "https://www.ensembl.org/id/ENSP00000501123.1" } ] } }, { "isoform_ac": "A8MXW3-1", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDELVEAGGEECRDEISSHEAHQDGLQISSEPPRKQTGVKHDQSPACGNL", "length": 122, "header": "tr|A8MXW3-1|CTNS_HUMAN Computationally mapped isoform of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=2 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3650314, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399306.7", "url": "https://www.ensembl.org/id/ENST00000399306.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000382245.2", "url": "https://www.ensembl.org/id/ENSP00000382245.2" } ] } }, { "isoform_ac": "C9JMM9-1", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDE", "length": 75, "header": "tr|C9JMM9-1|C9JMM9_HUMAN Computationally mapped isoform of Cystinosin, lysosomal cystine transporter OS=Homo sapiens OX=9606 GN=CTNS PE=4 SV=1 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3648931, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452111.5", "url": "https://www.ensembl.org/id/ENST00000452111.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408652.1", "url": "https://www.ensembl.org/id/ENSP00000408652.1" } ] } }, { "isoform_ac": "I3L0Z6-1", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDF", "length": 162, "header": "tr|I3L0Z6-1|I3L0Z6_HUMAN Computationally mapped isoform of Cystinosin, lysosomal cystine transporter OS=Homo sapiens OX=9606 GN=CTNS PE=3 SV=8 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3656511, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000576979.1", "url": "https://www.ensembl.org/id/ENST00000576979.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000458457.1", "url": "https://www.ensembl.org/id/ENSP00000458457.1" } ] } }, { "isoform_ac": "I3L1K8-1", "url": "", "sequence": { "sequence": "MNWRRKSVIGLSFDFVALNLTGFVAYSV", "length": 28, "header": "tr|I3L1K8-1|CTNS_HUMAN Computationally mapped isoform of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=1 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3656550, "end_pos": 3655333, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574218.1", "url": "https://www.ensembl.org/id/ENST00000574218.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000458912.1", "url": "https://www.ensembl.org/id/ENSP00000458912.1" } ] } }, { "isoform_ac": "I3L484-1", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRLWCLLE", "length": 53, "header": "tr|I3L484-1|CTNS_HUMAN Computationally mapped isoform of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=1 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3655016, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467663.5", "url": "https://www.ensembl.org/id/ENST00000467663.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461056.1", "url": "https://www.ensembl.org/id/ENSP00000461056.1" } ] } }, { "isoform_ac": "I3L4A9-1", "url": "", "sequence": { "sequence": "MNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG", "length": 253, "header": "tr|I3L4A9-1|CTNS_HUMAN Computationally mapped isoform of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=2 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3660731, "end_pos": 3655333, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574776.6", "url": "https://www.ensembl.org/id/ENST00000574776.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000461118.2", "url": "https://www.ensembl.org/id/ENSP00000461118.2" } ] } }, { "isoform_ac": "O60931-1", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN", "length": 367, "header": "sp|O60931-1|CTNS_HUMAN Isoform 1 of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=2 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3660366, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000046640.9", "url": "https://www.ensembl.org/id/ENST00000046640.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000046640.4", "url": "https://www.ensembl.org/id/ENSP00000046640.4" } ] } }, { "isoform_ac": "O60931-2", "url": "", "sequence": { "sequence": "MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG", "length": 400, "header": "sp|O60931-2|CTNS_HUMAN Isoform 2 of Cystinosin OS=Homo sapiens OX=9606 GN=CTNS PE=1 SV=2 CANONICAL=O60931-1" }, "locus": { "chromosome": "17", "start_pos": 3660731, "end_pos": 3640207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381870.8", "url": "https://www.ensembl.org/id/ENST00000381870.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000371294.3", "url": "https://www.ensembl.org/id/ENSP00000371294.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 36, "start_aa": "Asn", "end_pos": 36, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn36", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 41, "start_aa": "Asn", "end_pos": 41, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn41", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "High mannose", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (high mannose) asparagine High mannose", "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "O60931", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60931#ptm_processing" }, { "id": "28082515", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28082515" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).", "journal": "Molecular genetics and metabolism", "date": "1999", "authors": "Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10068513", "url": "https://glygen.org/publication/PubMed/10068513" } ] }, { "title": "Mutations of CTNS causing intermediate cystinosis.", "journal": "Molecular genetics and metabolism", "date": "1999", "authors": "Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10444339", "url": "https://glygen.org/publication/PubMed/10444339" } ] }, { "title": "Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.", "journal": "European journal of human genetics : EJHG", "date": "1999", "authors": "McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10482956", "url": "https://glygen.org/publication/PubMed/10482956" } ] }, { "title": "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.", "journal": "Human molecular genetics", "date": "1999", "authors": "Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10556299", "url": "https://glygen.org/publication/PubMed/10556299" } ] }, { "title": "CTNS mutations in patients with cystinosis.", "journal": "Hum. Mutat.", "date": "1999", "authors": "Anikster Y, Shotelersuk V, Gahl WA", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" }, { "database": "Reactome", "id": "R-HSA-425393", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425393" } ], "reference": [ { "type": "PubMed", "id": "10571941", "url": "https://glygen.org/publication/PubMed/10571941" } ] }, { "title": "Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.", "journal": "Pediatric research", "date": "2000", "authors": "Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10625078", "url": "https://glygen.org/publication/PubMed/10625078" } ] }, { "title": "The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.", "journal": "Genome research", "date": "2000", "authors": "Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "10673275", "url": "https://glygen.org/publication/PubMed/10673275" } ] }, { "title": "The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Cherqui S, Kalatzis V, Trugnan G, Antignac C", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "11150305", "url": "https://glygen.org/publication/PubMed/11150305" } ] }, { "title": "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.", "journal": "Nature genetics", "date": "2001", "authors": "Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5223345", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5223345" } ], "reference": [ { "type": "PubMed", "id": "11326272", "url": "https://glygen.org/publication/PubMed/11326272" } ] }, { "title": "Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.", "journal": "American journal of human genetics", "date": "2001", "authors": "Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5223345", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5223345" } ], "reference": [ { "type": "PubMed", "id": "11326338", "url": "https://glygen.org/publication/PubMed/11326338" } ] }, { "title": "The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter.", "journal": "Genomics", "date": "2001", "authors": "Zsurka G, Gregan J, Schweyen RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5223345", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5223345" } ], "reference": [ { "type": "PubMed", "id": "11401429", "url": "https://glygen.org/publication/PubMed/11401429" } ] }, { "title": "Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.", "journal": "The EMBO journal", "date": "2001", "authors": "Kalatzis V, Cherqui S, Antignac C, Gasnier B", "evidence": [ { "database": "UniProtKB", "id": "O60931", "url": "https://www.uniprot.org/uniprot/O60931" } ], "reference": [ { "type": "PubMed", "id": "11689434", "url": "https://glygen.org/publication/PubMed/11689434" } ] }, { "title": "Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina.", "journal": "The Journal of comparative neurology", "date": "2002", "authors": "Jellali A, Stussi-Garaud C, Gasnier B, Rendon A, Sahel JA, Dreyfus H, Picaud S", "evidence": [ { "database": "Reactome", "id": "R-HSA-425393", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425393" } ], "reference": [ { "type": "PubMed", "id": "12115694", "url": "https://glygen.org/publication/PubMed/12115694" } ] }, { "title": "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.", "journal": "Human mutation", "date": "2002", "authors": 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