{ "uniprot_canonical_ac": "O96005-1", "uniprot_ac": "O96005", "uniprot_id": "CLPT1_HUMAN", "mass": { "chemical_mass": 76097.0, "monoisotopic_mass": 76097.0 }, "refseq": { "ac": "NP_001269104", "name": "putative lipid scramblase CLPTM1 isoform 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, "gene_names": [ { "name": "CLPTM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96005", "id": "O96005" }, { "name": "CLPTM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104", "id": "NP_001269104" } ], "protein_names": [ { "name": "Putative lipid scramblase CLPTM1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96005" }, { "name": "Cleft lip and palate transmembrane protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96005" }, { "name": "cleft lip and palate transmembrane protein 1; cleft lip and palate associated transmembrane protein 1; CLPTM1, transmembrane protein; putative lipid scramblase CLPTM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104", "id": "NP_001269104" }, { "name": "putative lipid scramblase CLPTM1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104", "id": "NP_001269104" } ], "function": [ { "annotation": "A single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "31203567", "url": "https://glygen.org/publication/PubMed/31203567" } ] }, { "annotation": "Authors detected three genome-wide statistically significant single nucleotide polymorphisms mapped to Chromosome 5 CLPTM1L-TERT region.", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "31009812", "url": "https://glygen.org/publication/PubMed/31009812" } ] }, { "annotation": "De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "37577761", "url": "https://glygen.org/publication/PubMed/37577761" } ] }, { "annotation": "Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "16102578", "url": "https://glygen.org/publication/PubMed/16102578" } ] }, { "annotation": "Involved in GABAergic but not glutamatergic transmission. Binds and traps GABAA receptors in the endoplasmic reticulum (ER). Modulates postsynaptic GABAergic transmission, and therefore inhibitory neurotransmission, by reducing the plasma membrane expression of these receptors. Altered GABAergic signaling is one among many causes of cleft palate (By similarity). Might function as a lipid scramblase, translocating lipids in membranes from one leaflet to the other one (By similarity). Required for efficient glycosylphosphatidylinositol (GPI) inositol deacylation in the ER, which is a crucial step to switch GPI-anchored proteins (GPI-APs) from protein folding to transport states (PubMed:29255114). May play a role in T-cell development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005#function" }, { "database": "UniProtKB", "id": "Q8VBZ3", "url": "https://www.uniprot.org/uniprot/Q8VBZ3#function" }, { "database": "PubMed", "id": "29255114", "url": "https://glygen.org/publication/PubMed/29255114" }, { "database": "UniProtKB", "id": "Q96KA5", "url": "https://www.uniprot.org/uniprot/Q96KA5#function" } ] }, { "annotation": "Non-tumorous oral squamous cells exhibited vague, weak, or little cytoplasmic staining with anti-Clptm1 and CRR9 antibodies. By contrast, robust Clptm1 and CRR9 immunoreactivity was found at the cancer invasion front in 55 and 54 of the 98 OSCC tissue specimens, respectively.", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "30635792", "url": "https://glygen.org/publication/PubMed/30635792" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" }, { "database": "PubMed", "id": "16247549", "url": "https://glygen.org/publication/PubMed/16247549" }, { "database": "PubMed", "id": "16122939", "url": "https://glygen.org/publication/PubMed/16122939" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs750258939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750258939" }, { "id": "rs750258939", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750258939" }, { "id": "rs750258939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750258939#frequency_tab" }, { "id": "rs750258939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750258939" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "19", "chr_pos": "44974485", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750258939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750258939" }, { "id": "rs750258939", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750258939" }, { "id": "rs750258939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750258939#frequency_tab" }, { "id": "rs750258939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750258939" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->TAT).", "chr_id": "19", "chr_pos": "44974485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750231038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750231038" }, { "id": "rs750231038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750231038" }, { "id": "rs750231038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750231038" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAA).", "chr_id": "19", "chr_pos": "44974490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O96005", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96005" }, { "id": "rs1376192635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376192635" }, { "id": "rs1376192635", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376192635" }, { "id": "rs1376192635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376192635" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->NAM).", "chr_id": "19", "chr_pos": "44974491", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T121", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs745875304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745875304" }, { "id": "rs745875304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745875304" }, { "id": "rs745875304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745875304" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWT->NWT).", "chr_id": "19", "chr_pos": "44974532", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1283947493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283947493" }, { "id": "rs1283947493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1283947493" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGP).", "chr_id": "19", "chr_pos": "44977361", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458627225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458627225" }, { "id": "rs1458627225", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458627225" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 249, "end_pos": 249, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "19", "chr_pos": "44986527", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304684170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304684170" }, { "id": "rs1304684170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304684170" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "44986534", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757506581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757506581" }, { "id": "rs757506581", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757506581" }, { "id": "rs757506581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757506581#frequency_tab" }, { "id": "rs757506581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757506581" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 28, "end_pos": 28, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "19", "chr_pos": "44988099", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N28", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294556289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294556289" }, { "id": "rs1294556289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1294556289" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "19", "chr_pos": "44961978", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O96005", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96005" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "19", "chr_pos": "44961979", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S30", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769944481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769944481" }, { "id": "rs769944481", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769944481" }, { "id": "rs769944481", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769944481" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 323, "end_pos": 323, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "44987353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194778255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194778255" }, { "id": "rs1194778255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194778255#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->DET).", "chr_id": "19", "chr_pos": "44990499", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1418637447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418637447" }, { "id": "rs1418637447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418637447" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "19", "chr_pos": "44990500", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194778255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194778255" }, { "id": "rs1194778255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194778255#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96005" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"url": "https://www.ensembl.org/id/ENSP00000468310.1" } ] } }, { "isoform_ac": "O96005-1", "url": "", "sequence": { "sequence": "MAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFRIFIIWAISSWFRRGPAPQDQAGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKRAEDYGPVEVISHWHPNITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLASLPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETNPYLLALTIIVSIVHSVFEFLAFKNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQVSVFIGVLIDLWKITKVMDVRLDREHRVAGIFPRLSFKDKSTYIESSTKVYDDMAFRYLSWILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTPQLFINYKLKSVAHLPWRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGMSGEDPTAAAPVAEVPTAAGALTPTPAPTTTTATREEASTSLPTKPTQGASSASEPQEAPPKPAEDKKKD", "length": 669, "header": "sp|O96005-1|CLPT1_HUMAN Isoform 1 of Putative lipid scramblase CLPTM1 OS=Homo sapiens OX=9606 GN=CLPTM1 PE=1 SV=1 CANONICAL=O96005-1" }, "locus": { "chromosome": "19", "start_pos": 44992894, "end_pos": 44955396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337392.10", "url": "https://www.ensembl.org/id/ENST00000337392.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000336994.4", "url": "https://www.ensembl.org/id/ENSP00000336994.4" } ] } }, { "isoform_ac": "O96005-3", "url": "", "sequence": { "sequence": "MNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKRAEDYGPVEVISHWHPNITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLASLPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETNPYLLALTIIVSIVHSVFEFLAFKNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQVSVFIGVLIDLWKITKVMDVRLDREHRVAGIFPRLSFKDKSTYIESSTKVYDDMAFRYLSWILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTPQLFINYKLKSVAHLPWRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGMSGEDPTAAAPVAEVPTAAGALTPTPAPTTTTATREEASTSLPTKPTQGASSASEPQEAPPKPAEDKKKD", "length": 567, "header": "sp|O96005-3|CLPT1_HUMAN Isoform 3 of Putative lipid scramblase CLPTM1 OS=Homo sapiens OX=9606 GN=CLPTM1 PE=1 SV=1 CANONICAL=O96005-1" }, "locus": { "chromosome": "19", "start_pos": 44992894, "end_pos": 44973208, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546079.5", "url": "https://www.ensembl.org/id/ENST00000546079.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443192.1", "url": "https://www.ensembl.org/id/ENSP00000443192.1" } ] } }, { "isoform_ac": "O96005-4", "url": "", "sequence": { "sequence": "MSRKAHITEKVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFRIFIIWAISSWFRRGPAPQDQAGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKRAEDYGPVEVISHWHPNITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLASLPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETNPYLLALTIIVSIVHSVFEFLAFKNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQVSVFIGVLIDLWKITKVMDVRLDREHRVAGIFPRLSFKDKSTYIESSTKVYDDMAFRYLSWILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTPQLFINYKLKSVAHLPWRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGMSGEDPTAAAPVAEVPTAAGALTPTPAPTTTTATREEASTSLPTKPTQGASSASEPQEAPPKPAEDKKKD", "length": 655, "header": "sp|O96005-4|CLPT1_HUMAN Isoform 4 of Putative lipid scramblase CLPTM1 OS=Homo sapiens OX=9606 GN=CLPTM1 PE=1 SV=1 CANONICAL=O96005-1" }, "locus": { "chromosome": "19", "start_pos": 44992894, "end_pos": 44955056, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541297.6", "url": "https://www.ensembl.org/id/ENST00000541297.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000442011.1", "url": "https://www.ensembl.org/id/ENSP00000442011.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 119, "start_aa": "Asn", "end_pos": 119, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn119", "evidence": [ { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 241, "start_aa": "Asn", "end_pos": 241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn241", "evidence": [ { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 245, "start_aa": "Asn", "end_pos": 245, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn245", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 251, "start_aa": "Thr", "end_pos": 251, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr251", "evidence": [ { "id": "O96005", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 28, "start_aa": "Asn", "end_pos": 28, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "evidence": [ { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "1116", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1116" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "1116", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1116" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "1116", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1116" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "1116", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1116" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "1116", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1116" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "O96005", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16263699", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16263699" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 297, "start_aa": "Ser", "end_pos": 297, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser297", "evidence": [ { "id": "O96005", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "WQLYAAQSTK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 315, "start_aa": "Trp", "end_pos": 324, "end_aa": "Lys", "evidence": [ { "id": "O96005", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "ST", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 322, "start_aa": "Ser", "end_pos": 323, "end_aa": "Thr", "evidence": [ { "id": "O96005", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 323, "start_aa": "Thr", "end_pos": 323, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr323", "evidence": [ { "id": "O96005", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "O96005", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 601, "end_pos": 601, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O96005", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96005" } ], "site_lbl": "Ser601" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O96005", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O96005", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.", "journal": "Cancer genetics and cytogenetics", "date": "2005", "authors": "Rossi MR, Hawthorn L, Platt J, Burkhardt T, Cowell JK, Ionov Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "16102578", "url": "https://glygen.org/publication/PubMed/16102578" } ] }, { "title": "Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.", "journal": "Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery", "date": "2005", "authors": "Turhani D, Item CB, Watzinger E, Sinko K, Watzinger F, Lauer G, Ewers R", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "16122939", "url": "https://glygen.org/publication/PubMed/16122939" } ] }, { "title": "PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.", "journal": "Journal of human genetics", "date": "2006", "authors": "Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura K", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "16247549", "url": "https://glygen.org/publication/PubMed/16247549" } ] }, { "title": "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Lewandrowski U, Moebius J, Walter U, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" }, { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "16263699", "url": "https://glygen.org/publication/PubMed/16263699" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005#ptm_processing" }, { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O96005", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" }, { "database": "iPTMnet", "id": "O96005", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96005" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.", "journal": "Human molecular genetics", "date": "2015", "authors": "Myklebust LM, Van Damme P, Stove SI, Dorfel MJ, Abboud A, Kalvik TV, Grauffel C, Jonckheere V, Wu Y, Swensen J, Kaasa H, Liszczak G, Marmorstein R, Reuter N, Lyon GJ, Gevaert K, Arnesen T", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "25489052", "url": "https://glygen.org/publication/PubMed/25489052" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O96005", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.", "journal": "The Journal of cell biology", "date": "2018-02-05", "authors": "Liu Yi-Shi, Guo Xin-Yu, Hirata Tetsuya, Rong Yao, Motooka Daisuke, Kitajima Toshihiko, Murakami Yoshiko, Gao Xiao-Dong, Nakamura Shota, Kinoshita Taroh, Fujita Morihisa", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "29255114", "url": "https://glygen.org/publication/PubMed/29255114" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O96005", "url": "" }, { "database": "GlyConnect", "id": "1116", "url": "https://glyconnect.expasy.org/browser/proteins/1116" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma.", "journal": "Journal of cancer research and clinical oncology", "date": "2019", "authors": "Inoue K, Hatano K, Hanamatsu Y, Saigo C, Kito Y, Bunai K, Shibata T, Takeuchi T", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "30635792", "url": "https://glygen.org/publication/PubMed/30635792" } ] }, { "title": "Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region.", "journal": "Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer", "date": "2019", "authors": "Hung RJ, Spitz MR, Houlston RS, Schwartz AG, Field JK, Ying J, Li Y, Han Y, Ji X, Chen W, Wu X, Gorlov IP, Na J, de Andrade M, Liu G, Brhane Y, Diao N, Wenzlaff A, Davies MPA, Liloglou T, Timofeeva M, Muley T, Rennert H, Saliba W, Ryan BM, Bowman E, Barros-Dios JM, Perez-Rios M, Morgenstern H, Zienolddiny S, Skaug V, Ugolini D, Bonassi S, van der Heijden EHFM, Tardon A, Bojesen SE, Landi MT, Johansson M, Bickeboller H, Arnold S, Le Marchand L, Melander O, Andrew A, Grankvist K, Caporaso N, Teare MD, Schabath MB, Aldrich MC, Kiemeney LA, Wichmann HE, Lazarus P, Mayordomo J, Neri M, Haugen A, Zhang ZF, Ruano-Ravina A, Brenner H, Harris CC, Orlow I, Rennert G, Risch A, Brennan P, Christiani DC, Amos CI, Yang P, Gorlova OY", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "31009812", "url": "https://glygen.org/publication/PubMed/31009812" } ] }, { "title": "Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.", "journal": "Familial cancer", "date": "2019", "authors": "Christodoulou E, Visser M, Potjer TP, van der Stoep N, Rodriguez-Girondo M, van Doorn R, Gruis N", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "31203567", "url": "https://glygen.org/publication/PubMed/31203567" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96005", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96005", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96005", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96005", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O96005", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96005" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.", "journal": "Epilepsia", "date": "2023-08-14", "authors": "Liu Nana, Li Jinliang, Gao Kai, Perszyk Riley E, Zhang Jing, Wang Jingmin, Wu Ye, Jenkins Andrew, Yuan Hongjie, Traynelis Stephen F, Jiang Yuwu", "evidence": [ { "database": "RefSeq", "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104" } ], "reference": [ { "type": "PubMed", "id": "37577761", "url": "https://glygen.org/publication/PubMed/37577761" } ] }, { "title": "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.", "journal": "Genomics", "date": "1998", "authors": "Yoshiura K, Machida J, Daack-Hirsch S, Patil S R, Ashworth L K, Hecht J T, Murray J C", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "reference": [ { "type": "PubMed", "id": "9828125", "url": "https://glygen.org/publication/PubMed/9828125" } ] } ], "pathway": [ { "id": "hsa:1209", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1209", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A6J8Q9-1", "protein_name": "CLPTM1 regulator of GABA type A receptor forward trafficking", "gene_name": "Clptm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAAQEADGAGSAVVAAGGGSSGQVTSNGSIGRDTPAETQPQNPPPQPAPNAWQVIKGVLFRIFIIWAISSWFRRGPSPQDQSGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKRAEDYGPVEVISHWHPNITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLASLPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETSPYLLALTIIVSIVHSVFEFLAFKNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQVSVFIGVLIDLWKITKVMDVRLDREHRVAGIFPCPTFRDKSTYIESSTKVYDDMAFRYLSWILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTPQLFINYKLKSVAHLPWRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGMSGEDVSAAASGAQASTAAGALTPSPSTAVTGEDASTVPTATPGACTASQPQEDPPKPAEDKKKD", "length": 664 }, "evidence": [ { "id": "45929418", "url": "http://www.informatics.jax.org/homology/45929418", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8VBZ3-1", "protein_name": "Putative lipid scramblase CLPTM1", "gene_name": "Clptm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { 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[ { "name": "regulation of T cell differentiation in thymus", "id": "GO:0033081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033081", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "O96005", "url": "https://www.uniprot.org/uniprot/O96005" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 119, "end_pos": 121, "annotation": "n_glycosylation_sequon" }, { "start_pos": 161, "end_pos": 163, "annotation": "n_glycosylation_sequon" }, { 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