{ "uniprot_canonical_ac": "O95171-1", "uniprot_ac": "O95171", "uniprot_id": "SCEL_HUMAN", "mass": { "chemical_mass": 77552.0, "monoisotopic_mass": 77552.0 }, "refseq": { "ac": "NP_001154178", "name": "sciellin isoform 3", "summary": "The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, "gene_names": [ { "name": "SCEL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95171", "id": "O95171" }, { "name": "SCEL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178", "id": "NP_001154178" } ], "protein_names": [ { "name": "Sciellin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95171" }, { "name": "sciellin isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178", "id": "NP_001154178" } ], "function": [ { "annotation": "CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "37733753", "url": "https://glygen.org/publication/PubMed/37733753" } ] }, { "annotation": "Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "37060824", "url": "https://glygen.org/publication/PubMed/37060824" } ] }, { "annotation": "Down-regulation of long non-coding RNA HOTAIR promotes angiogenesis via regulating miR-126/SCEL pathways in burn wound healing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "31974341", "url": "https://glygen.org/publication/PubMed/31974341" } ] }, { "annotation": "May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope.", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171#function" } ] }, { "annotation": "Single nucleotide polymorphisms were detected in both matching tumor and normal esophageal tissues but no disease-associated mutations suggesting that SCEL is not a major factor in esophageal squamous cell carcinogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "15274303", "url": "https://glygen.org/publication/PubMed/15274303" } ] }, { "annotation": "The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ] }, { "annotation": "These results demonstrate that SCEL is a mesenchymal-to-epithelial transition inducer dynamically regulated through the metastasis process", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "27013588", "url": "https://glygen.org/publication/PubMed/27013588" } ] }, { "annotation": "VDUP1 and sciellin were more highly expressed in keratinocytes undergoing differentiation and colocalization of the proteins could be demonstrated", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" }, { "database": "PubMed", "id": "14632196", "url": "https://glygen.org/publication/PubMed/14632196" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1200280677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200280677" }, { "id": "rs1200280677", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1200280677#frequency_tab" }, { "id": "rs1200280677", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200280677" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 104, "end_pos": 104, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDS).", "chr_id": "13", "chr_pos": "77567699", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95171", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95171" } ], "glycoeffect": [ "n-glyco-sequon-gain", "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": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "13", "chr_pos": "77568297", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S121", "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" ] }, { "evidence": [ { "id": "rs765780068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765780068" }, { "id": "rs765780068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765780068" }, { "id": "rs765780068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765780068#frequency_tab" }, { "id": "rs765780068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765780068" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "13", "chr_pos": "77569397", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410421567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410421567" }, { "id": "rs1410421567", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410421567#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 147, "end_pos": 147, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "13", "chr_pos": "77569412", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I147", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757743153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757743153" }, { "id": "rs757743153", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757743153" }, { "id": "rs757743153", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757743153#frequency_tab" }, { "id": "rs757743153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757743153" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "13", "chr_pos": "77556603", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs957743419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957743419" }, { "id": "rs957743419", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs957743419" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 258, "end_pos": 258, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "13", "chr_pos": "77597565", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753964638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753964638" }, { "id": "rs753964638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753964638" }, { "id": "rs753964638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753964638" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 269, "end_pos": 269, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQG->NQS).", "chr_id": "13", "chr_pos": "77599336", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G269", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364774506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364774506" }, { "id": "rs1364774506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364774506" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 292, "end_pos": 292, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "13", "chr_pos": "77599706", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95171", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95171" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 319, "end_pos": 319, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NQR->NQS).", "chr_id": "13", "chr_pos": "77602104", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R319", "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" ] }, { "evidence": [ { "id": "O95171", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95171" } ], "glycoeffect": [], "start_pos": 331, "end_pos": 331, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "77602667", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E331", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95171", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95171" } ], "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95171", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95171" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "common_name": "Human" } ], "gene": [ { "name": "SCEL", "url": "https://www.uniprot.org/uniprot/O95171", "locus": { "chromosome": "13", "start_pos": 77645263, "end_pos": 77535674, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136155", "url": "https://www.ensembl.org/id/ENSG00000136155" } ] } } ], "crossref": [ { "id": "ENSG00000136155", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136155", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95171", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95171", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd08368", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08368", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SCEL", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCEL", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8796", "url": "https://www.ncbi.nlm.nih.gov/gene/8796", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1724", "url": "https://glyconnect.expasy.org/browser/proteins/1724", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "10573", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10573", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95171", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95171*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001781", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001781", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8796", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8796", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604112", "url": "http://www.omim.org/entry/604112", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95171", "url": "https://www.nextprot.org/entry/NX_O95171", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95171", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95171", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WIYKQTI", "url": "https://omabrowser.org/oma/group/WIYKQTI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4635366at2759", "url": "http://www.orthodb.org/?query=4635366at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15468", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15468", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15468:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15468:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "O95171", "url": "https://pharos.nih.gov/targets/O95171", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95171", "url": "http://purl.obolibrary.org/obo/PR_O95171", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95171", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "F2Z2X8", "url": "https://www.uniprot.org/uniprot/F2Z2X8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z2X8-1", "url": "https://www.uniprot.org/uniprot/F2Z2X8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95171-1", "url": "https://www.uniprot.org/uniprot/O95171-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95171-2", "url": "https://www.uniprot.org/uniprot/O95171-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95171-3", "url": "https://www.uniprot.org/uniprot/O95171-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKRQSWFPPPPPGYNASSSTGTRRREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNIRSQDLDNIVKVATSLQRSDKGEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRTDKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKGHENTTGKKDLDGLIKVDPETNKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGNQDLENLIKVIPSANKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDLDNLIKVKPSALRNTNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENISGKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENLQAGDSIWIYRQTIHCEPCYSKIMAKWIP", "length": 688, "header": "sp|O95171-1|SCEL_HUMAN Isoform 1 of Sciellin OS=Homo sapiens OX=9606 GN=SCEL PE=1 SV=2 CANONICAL=O95171-1" }, "isoforms": [ { "isoform_ac": "F2Z2X8-1", "url": "", "sequence": { "sequence": "MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRSMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKRQSWFPPPPPGYNASSSTGTRRREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNISEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRTDKDGKGIQSLGSPIKVNQRTDKNEKG", "length": 283, "header": "tr|F2Z2X8-1|F2Z2X8_HUMAN Computationally mapped isoform of Sciellin OS=Homo sapiens OX=9606 GN=SCEL PE=1 SV=1 CANONICAL=O95171-1" }, "locus": { "chromosome": "13", "start_pos": 77602125, "end_pos": 77555876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471491.5", "url": "https://www.ensembl.org/id/ENST00000471491.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432840.1", "url": "https://www.ensembl.org/id/ENSP00000432840.1" } ] } }, { "isoform_ac": "O95171-1", "url": "", "sequence": { "sequence": "MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKRQSWFPPPPPGYNASSSTGTRRREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNIRSQDLDNIVKVATSLQRSDKGEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRTDKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKGHENTTGKKDLDGLIKVDPETNKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGNQDLENLIKVIPSANKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDLDNLIKVKPSALRNTNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENISGKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENLQAGDSIWIYRQTIHCEPCYSKIMAKWIP", "length": 688, "header": "sp|O95171-1|SCEL_HUMAN Isoform 1 of Sciellin OS=Homo sapiens OX=9606 GN=SCEL PE=1 SV=2 CANONICAL=O95171-1" }, "locus": { "chromosome": "13", "start_pos": 77644271, "end_pos": 77555876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000349847.4", "url": "https://www.ensembl.org/id/ENST00000349847.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000302579.5", "url": "https://www.ensembl.org/id/ENSP00000302579.5" } ] } }, { "isoform_ac": "O95171-2", "url": "", "sequence": { "sequence": "MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKRQSWFPPPPPGYNASSSTGTRRREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNISEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRTDKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKGHENTTGKKDLDGLIKVDPETNKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGNQDLENLIKVIPSANKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDLDNLIKVKPSALRNTNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENISGKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENLQAGDSIWIYRQTIHCEPCYSKIMAKWIP", "length": 668, "header": "sp|O95171-2|SCEL_HUMAN Isoform 2 of Sciellin OS=Homo sapiens OX=9606 GN=SCEL PE=1 SV=2 CANONICAL=O95171-1" }, "locus": { "chromosome": "13", "start_pos": 77644271, "end_pos": 77555876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377246.7", "url": "https://www.ensembl.org/id/ENST00000377246.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000366454.3", "url": "https://www.ensembl.org/id/ENSP00000366454.3" } ] } }, { "isoform_ac": "O95171-3", "url": "", "sequence": { "sequence": "MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRKVNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRSLEVTKLQPGGSLNANTSNTIASTSATTPVKKKREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAERNIRSQDLDNIVKVATSLQRSDKGEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRTDKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKGHENTTGGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGNQDLENLIKVIPSANKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDLDNLIKVKPSALRNTNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENISGKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENLQAGDSIWIYRQTIHCEPCYSKIMAKWIP", "length": 646, "header": "sp|O95171-3|SCEL_HUMAN Isoform 3 of Sciellin OS=Homo sapiens OX=9606 GN=SCEL PE=1 SV=2 CANONICAL=O95171-1" }, "locus": { "chromosome": "13", "start_pos": 77644271, "end_pos": 77555876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535157.5", "url": "https://www.ensembl.org/id/ENST00000535157.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437895.1", "url": "https://www.ensembl.org/id/ENSP00000437895.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 292, "start_aa": "Ser", "end_pos": 292, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser292", "evidence": [ { "id": "O95171", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95171" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "1724", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1724" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23453IV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "1724", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1724" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "1724", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1724" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G81295CK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "1724", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1724" }, { "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": 562, "start_aa": "Asn", "end_pos": 562, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn562", "evidence": [ { "id": "O95171", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] } ], "phosphorylation": [ { "start_pos": 289, "end_pos": 289, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "site_lbl": "Ser289" }, { "start_pos": 389, "end_pos": 389, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "site_lbl": "Ser389" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The expression of vitamin D-upregulated protein 1 in skin and its interaction with sciellin in cultured keratinocytes.", "journal": "The Journal of investigative dermatology", "date": "2003", "authors": "Champliaud MF, Viel A, Baden HP", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "14632196", "url": "https://glygen.org/publication/PubMed/14632196" } ] }, { "title": "Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma.", "journal": "Anticancer research", "date": "2004", "authors": "Corona W, Karkera DJ, Patterson RH, Saini N, Trachiotis GD, Korman LY, Liu B, Alexander EP, De la Pena AS, Marcelo AB, Wadleigh R", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "15274303", "url": "https://glygen.org/publication/PubMed/15274303" } ] }, { "title": "Sciellin mediates mesenchymal-to-epithelial transition in colorectal cancer hepatic metastasis.", "journal": "Oncotarget", "date": "2016", "authors": "Chou CK, Fan CC, Lin PS, Liao PY, Tung JC, Hsieh CH, Hung MC, Chen CH, Chang WC", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "27013588", "url": "https://glygen.org/publication/PubMed/27013588" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95171", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95171" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "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": "O95171", "url": "" }, { "database": "GlyConnect", "id": "1724", "url": "https://glyconnect.expasy.org/browser/proteins/1724" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Down-regulation of long non-coding RNA HOTAIR promotes angiogenesis via regulating miR-126/SCEL pathways in burn wound healing.", "journal": "Cell death & disease", "date": "2020", "authors": "Jiang B, Tang Y, Wang H, Chen C, Yu W, Sun H, Duan M, Lin X, Liang P", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "31974341", "url": "https://glygen.org/publication/PubMed/31974341" } ] }, { "title": "Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.", "journal": "Pathology, research and practice", "date": "2023-04-03", "authors": "Liang Tairong, Wu Xiuqian, Wang Lan, Ni Zhengzhong, Fan Ying, Wu Peishan, Wang Hongzhi, Niu Yongdong, Huang Haihua", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "37060824", "url": "https://glygen.org/publication/PubMed/37060824" } ] }, { "title": "CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.", "journal": "Journal of cellular physiology", "date": "2023-11", "authors": "Chen Hao, Su Yijie, Yang Lihong, Xi Lishan, Li Xuanyuan, Lan Bei, Liu Min, Xuan Chenghao", "evidence": [ { "database": "RefSeq", "id": "NP_001154178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154178" } ], "reference": [ { "type": "PubMed", "id": "37733753", "url": "https://glygen.org/publication/PubMed/37733753" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95171", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95171" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelope.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Champliaud M F, Burgeson R E, Jin W, Baden H P, Olson P F", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "reference": [ { "type": "PubMed", "id": "9813070", "url": "https://glygen.org/publication/PubMed/9813070" } ] } ], "pathway": [ { "id": "hsa:8796", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8796", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K292-1", "protein_name": "Sciellin", "gene_name": "Scel", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95171", "url": "https://www.uniprot.org/uniprot/O95171" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 119, "end_pos": 121, "annotation": "n_glycosylation_sequon" }, { "start_pos": 142, "end_pos": 144, "annotation": "n_glycosylation_sequon" }, { "start_pos": 172, "end_pos": 174, "annotation": "n_glycosylation_sequon" }, { "start_pos": 223, "end_pos": 225, "annotation": 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