{ "uniprot_canonical_ac": "O60938-1", "uniprot_ac": "O60938", "uniprot_id": "KERA_HUMAN", "mass": { "chemical_mass": 40509.0, "monoisotopic_mass": 40509.0 }, "refseq": { "ac": "NP_008966", "name": "keratocan precursor", "summary": "The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, "gene_names": [ { "name": "KERA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60938", "id": "O60938" }, { "name": "CNA2; KTN; SLRR2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966", "id": "NP_008966" }, { "name": "KERA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966", "id": "NP_008966" }, { "name": "SLRR2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60938", "id": "O60938" } ], "protein_names": [ { "name": "Keratocan", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60938" }, { "name": "KTN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60938" }, { "name": "Keratan sulfate proteoglycan keratocan", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60938" }, { "name": "keratan sulfate proteoglycan keratocan", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966", "id": "NP_008966" }, { "name": "keratocan precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966", "id": "NP_008966" } ], "function": [ { "annotation": "A novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, { "database": "PubMed", "id": "26099342", "url": "https://glygen.org/publication/PubMed/26099342" } ] }, { "annotation": "KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, { "database": "PubMed", "id": "28677912", "url": "https://glygen.org/publication/PubMed/28677912" } ] }, { "annotation": "May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938#function" }, { "database": "PubMed", "id": "10802664", "url": "https://glygen.org/publication/PubMed/10802664" }, { "database": "PubMed", "id": "11726611", "url": "https://glygen.org/publication/PubMed/11726611" } ] }, { "annotation": "Rare variant in KERA was identified in a large kindred with premature atherosclerosis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, { "database": "PubMed", "id": "24879339", "url": "https://glygen.org/publication/PubMed/24879339" } ] }, { "annotation": "The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, { "database": "PubMed", "id": "25967529", "url": "https://glygen.org/publication/PubMed/25967529" } ] }, { "annotation": "The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ] }, { "annotation": "We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene.", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" }, { "database": "PubMed", "id": "28799822", "url": "https://glygen.org/publication/PubMed/28799822" } ] } ], "disease": [ { "disease_id": "DOID:0060287", "recommended_name": { "id": "DOID:0060287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060287", "name": "cornea plana", "description": "A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D." }, "synonyms": [ { "id": "DOID:0060287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060287", "name": "flat cornea", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "cornea plana 2", "description": "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "KERA cornea plana", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "cornea plana 2", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "cornea plana caused by mutation in KERA", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "cornea plana type 2", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "CNA2", "description": "" }, { "id": "MONDO:0009014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009014", "name": "cornea plana 2, autosomal recessive", "description": "" }, { "id": "MONDO:0007372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007372", "name": "cornea plana 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007372", "name": "cornea plana 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007372", "name": "CNA1", "description": "" }, { "id": "MONDO:0007372", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007372", "name": "cornea plana 1", "description": "" }, { "id": "MIM:217300", "resource": "MIM", "url": "https://www.omim.org/entry/217300", "name": "Cornea plana 2, autosomal recessive", "description": "Cornea plana 2, autosomal recessive" } ], "evidence": [ { "id": "217300", "database": "MIM", "url": "https://www.omim.org/entry/217300" } ] } ], "snv": [ { "evidence": [ { "id": "rs1281164744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281164744" }, { "id": "rs1281164744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281164744" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 103, "end_pos": 103, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "12", "chr_pos": "91055974", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341418310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341418310" }, { "id": "rs1341418310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341418310" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 153, "end_pos": 153, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "12", "chr_pos": "91055823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774494680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774494680" }, { "id": "rs774494680", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774494680" }, { "id": "rs774494680", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774494680#frequency_tab" }, { "id": "rs774494680", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774494680" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 161, "end_pos": 161, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "12", "chr_pos": "91055800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1017125971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017125971" }, { "id": "rs1017125971", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017125971" }, { "id": "rs1017125971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1017125971#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKL->NKS).", "chr_id": "12", "chr_pos": "91055749", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304210038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304210038" }, { "id": "rs1304210038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304210038" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 183, "end_pos": 183, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAF->NAS).", "chr_id": "12", "chr_pos": "91055734", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763099091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763099091" }, { "id": "rs763099091", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763099091" }, { "id": "rs763099091", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763099091" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 195, "end_pos": 195, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "12", "chr_pos": "91055698", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745405837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745405837" }, { "id": "rs745405837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745405837" }, { "id": "rs745405837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745405837" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 208, "end_pos": 208, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMP->NMS).", "chr_id": "12", "chr_pos": "91055660", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P208", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs914005658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914005658" }, { "id": "rs914005658", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914005658#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "12", "chr_pos": "91055616", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60938", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60938" }, { "id": "rs769312068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769312068" }, { "id": "rs769312068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs769312068" }, { "id": "rs769312068", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769312068" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 222, "end_pos": 222, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "12", "chr_pos": "91055617", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N222", "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": "O60938", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60938" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->NNF).", "chr_id": "12", "chr_pos": "91055611", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S224", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": 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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" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60938", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60938" } ], "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": "O60938", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60938" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60938", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60938" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60938", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60938" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", 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"malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O60938", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60938" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"N-linked (GlcNAc...) (keratan sulfate) asparagine", "start_pos": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "O60938", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60938#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "O60938", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60938#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "O60938", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60938#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 71, "start_aa": "Ser", "end_pos": 71, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser71", "evidence": [ { "id": "O60938", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60938" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (keratan sulfate) asparagine", "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "O60938", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60938#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning of a novel alpha2,3-sialyltransferase (ST3Gal VI) that sialylates type II lactosamine structures on glycoproteins and glycolipids.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Okajima T, Fukumoto S, Miyazaki H, Ishida H, Kiso M, Furukawa K, Urano T, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "10206952", "url": 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"type": "PubMed", "id": "10504389", "url": "https://glygen.org/publication/PubMed/10504389" } ] }, { "title": "Structure and sequence of the gene encoding human keratocan.", "journal": "DNA Seq.", "date": "1999", "authors": "Tasheva E S, Funderburgh J L, Funderburgh M L, Corpuz L M, Conrad G W", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938" } ], "reference": [ { "type": "PubMed", "id": "10565548", "url": "https://glygen.org/publication/PubMed/10565548" } ] }, { "title": "Mutations in KERA, encoding keratocan, cause cornea plana.", "journal": "Nature genetics", "date": "2000", "authors": "Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938" }, { "database": "dbSNP", "id": "rs121917858", "url": 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"R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11030741", "url": "https://glygen.org/publication/PubMed/11030741" } ] }, { "title": "Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Shiraishi N, Natsume A, Togayachi A, Endo T, Akashima T, Yamada Y, Imai N, Nakagawa S, Koizumi S, Sekine S, Narimatsu H, Sasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042166", "url": "https://glygen.org/publication/PubMed/11042166" } ] }, { "title": "Functional expression and genomic structure of human N-acetylglucosamine-6-O-sulfotransferase that transfers sulfate to beta-N-acetylglucosamine at the nonreducing end of an N-acetyllactosamine sequence.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Sakaguchi H, Kitagawa H, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11042394", "url": "https://glygen.org/publication/PubMed/11042394" } ] }, { "title": "Molecular cloning and characterization of UDP-GlcNAc:lactosylceramide beta 1,3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Togayachi A, Akashima T, Ookubo R, Kudo T, Nishihara S, Iwasaki H, Natsume A, Mio H, Inokuchi J, Irimura T, Sasaki K, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11283017", "url": "https://glygen.org/publication/PubMed/11283017" } ] }, { "title": "Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells.", "journal": "Glycobiology", "date": "2001", "authors": "Guo S, Sato T, Shirane K, Furukawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11588157", "url": "https://glygen.org/publication/PubMed/11588157" } ] }, { "title": "Keratocan expression is increased in the stroma of keratoconus corneas.", "journal": "Mol. Med.", "date": "2001", "authors": "Wentz-Hunter K, Cheng E L, Ueda J, Sugar J, Yue B Y", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938" } ], "reference": [ { "type": "PubMed", "id": "11683372", "url": "https://glygen.org/publication/PubMed/11683372" } ] }, { "title": "A novel keratocan mutation causing autosomal recessive cornea plana.", "journal": "Investigative ophthalmology & visual science", "date": "2001", "authors": "Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938" } ], "reference": [ { "type": "PubMed", "id": "11726611", "url": "https://glygen.org/publication/PubMed/11726611" } ] }, { "title": "Database for the mutations of the Finnish disease heritage.", "journal": "Human mutation", "date": "2002", "authors": "Sipila K, Aula P", "evidence": [ { "database": "dbSNP", "id": "rs121917858", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121917858" } ], "reference": [ { "type": "PubMed", "id": "11754099", "url": "https://glygen.org/publication/PubMed/11754099" } ] }, { "title": "Molecular cloning and characterization of a novel UDP-GlcNAc:GalNAc-peptide beta1,3-N-acetylglucosaminyltransferase (beta 3Gn-T6), an enzyme synthesizing the core 3 structure of O-glycans.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Iwai T, Inaba N, Naundorf A, Zhang Y, Gotoh M, Iwasaki H, Kudo T, Togayachi A, Ishizuka Y, Nakanishi H, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11821425", "url": "https://glygen.org/publication/PubMed/11821425" } ] }, { "title": "Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "11901181", "url": "https://glygen.org/publication/PubMed/11901181" } ] }, { "title": "Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Akama TO, Misra AK, Hindsgaul O, Fukuda MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "12218059", "url": "https://glygen.org/publication/PubMed/12218059" } ] }, { "title": "Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.", "journal": "Journal of inorganic biochemistry", "date": "2003", "authors": "Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "12888274", "url": "https://glygen.org/publication/PubMed/12888274" } ] }, { "title": "A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases.", "journal": "The Biochemical journal", "date": "1992", "authors": "Robertson DA, Freeman C, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "1463457", "url": "https://glygen.org/publication/PubMed/1463457" } ] }, { "title": "Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.", "journal": "American journal of ophthalmology", "date": "2004", "authors": "Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656225" } ], "reference": [ { "type": "PubMed", "id": "15013869", "url": "https://glygen.org/publication/PubMed/15013869" } ] }, { "title": "Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "1522213", "url": "https://glygen.org/publication/PubMed/1522213" } ] }, { "title": "Cloning and tissue distribution of the human B3GALT7 gene, a member of the beta1,3-Glycosyltransferase family.", "journal": "Glycoconjugate journal", "date": "2004", "authors": "Huang C, Zhou J, Wu S, Shan Y, Teng S, Yu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15486459", "url": "https://glygen.org/publication/PubMed/15486459" } ] }, { "title": "Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.", "journal": "Molecular biology reports", "date": "2004", "authors": "Zheng H, Li Y, Ji C, Li J, Zhang J, Yin G, Xu J, Ye X, Wu M, Zou X, Gu S, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15560372", "url": "https://glygen.org/publication/PubMed/15560372" } ] }, { "title": "A novel beta1,3-N-acetylglucosaminyltransferase (beta3Gn-T8), which synthesizes poly-N-acetyllactosamine, is dramatically upregulated in colon cancer.", "journal": "FEBS letters", "date": "2005", "authors": "Ishida H, Togayachi A, Sakai T, Iwai T, Hiruma T, Sato T, Okubo R, Inaba N, Kudo T, Gotoh M, Shoda J, Tanaka N, Narimatsu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "15620693", "url": "https://glygen.org/publication/PubMed/15620693" } ] }, { "title": "Lysosomal metabolism of glycoproteins.", "journal": "Glycobiology", "date": "2005", "authors": "Winchester B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "15647514", "url": "https://glygen.org/publication/PubMed/15647514" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938#ptm_processing" }, { "database": "UniProtKB", "id": "O60938", "url": "https://www.uniprot.org/uniprot/O60938" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Schaub BE, Berger B, Berger EG, Rohrer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "17021253", "url": "https://glygen.org/publication/PubMed/17021253" } ] }, { "title": "Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.", "journal": "Human genetics", "date": "2007", "authors": "Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656243" } ], "reference": [ { "type": "PubMed", "id": "17120046", "url": "https://glygen.org/publication/PubMed/17120046" } ] }, { "title": "Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lopez LC, Youakim A, Evans SC, Shur BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022854", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022854" } ], "reference": [ { "type": "PubMed", "id": "1714903", "url": "https://glygen.org/publication/PubMed/1714903" } ] }, { "title": "N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.", "journal": "Journal of biochemistry", "date": "1991", "authors": "Masue M, Sukegawa K, Orii T, Hashimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "1794986", "url": "https://glygen.org/publication/PubMed/1794986" } ] }, { "title": "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.", "journal": "American journal of human genetics", "date": "1991", "authors": "Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "1907800", "url": "https://glygen.org/publication/PubMed/1907800" } ] }, { "title": "Human beta-galactosidase gene mutations in morquio B disease.", "journal": "American journal of human genetics", "date": "1991", "authors": "Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "1928092", "url": "https://glygen.org/publication/PubMed/1928092" } ] }, { "title": "Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.", "journal": "Human mutation", "date": "2010", "authors": "Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgu F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Burger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "20232353", "url": "https://glygen.org/publication/PubMed/20232353" } ] }, { "title": "ST3GAL3 mutations impair the development of higher cognitive functions.", "journal": "American journal of human genetics", "date": "2011", "authors": "Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muhlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656243" } ], "reference": [ { "type": "PubMed", "id": "21907012", "url": "https://glygen.org/publication/PubMed/21907012" } ] }, { "title": "West syndrome caused by ST3Gal-III deficiency.", "journal": "Epilepsia", "date": "2013", "authors": "Edvardson S, Baumann AM, Muhlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O", "evidence": [ { "database": "Reactome", "id": "R-HSA-3656243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656243" } ], "reference": [ { "type": "PubMed", "id": "23252400", "url": "https://glygen.org/publication/PubMed/23252400" } ] }, { "title": "Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.", "journal": "PloS one", "date": "2014", "authors": "Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA, Vosmeer CR, Kruize H, Geerke DP, van der Wal AC, van der Loos CM, Kastelein JJ, Trip MD, Ouwehand WH, Dallinga-Thie GM, Hovingh GK", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ], "reference": [ { "type": "PubMed", "id": "24879339", "url": "https://glygen.org/publication/PubMed/24879339" } ] }, { "title": "A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.", "journal": "Journal of glaucoma", "date": "2016", "authors": "Kumari D, Tiwari A, Choudhury M, Kumar A, Rao A, Dixit M", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ], "reference": [ { "type": "PubMed", "id": "25967529", "url": "https://glygen.org/publication/PubMed/25967529" } ] }, { "title": "Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.", "journal": "BMC medical genetics", "date": "2015", "authors": "Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Gronskov K, Tumer Z", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ], "reference": [ { "type": "PubMed", "id": "26099342", "url": "https://glygen.org/publication/PubMed/26099342" } ] }, { "title": "Analysis of KERA in four families with cornea plana identifies two novel mutations.", "journal": "Acta ophthalmologica", "date": "2018", "authors": "Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ], "reference": [ { "type": "PubMed", "id": "28677912", "url": "https://glygen.org/publication/PubMed/28677912" } ] }, { "title": "Corneal ectasia in a boy with homozygous KERA mutation.", "journal": "Ophthalmic genetics", "date": "2018", "authors": "Khan AO", "evidence": [ { "database": "RefSeq", "id": "NP_008966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008966" } ], "reference": [ { "type": "PubMed", "id": "28799822", "url": "https://glygen.org/publication/PubMed/28799822" } ] }, { "title": "Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.", "journal": "Biochemistry", "date": "1988", "authors": "O'Dowd BF, Cumming DA, Gravel RA, Mahuran D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "2971395", "url": "https://glygen.org/publication/PubMed/2971395" } ] }, { "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": "GlyConnect", "id": "1432", "url": "https://glyconnect.expasy.org/browser/proteins/1432" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase.", "journal": "Biochemical and biophysical research communications", "date": "1988", "authors": "Robertson DA, Freeman C, Nelson PV, Morris CP, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "3196333", "url": "https://glygen.org/publication/PubMed/3196333" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60938", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60938" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Human small-intestinal beta-galactosidases. Separation and characterization of one lactase and one hetero beta-galactosidase.", "journal": "The Biochemical journal", "date": "1969", "authors": "Asp NG, Dahlqvist A, Koldovsky O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "5822067", "url": "https://glygen.org/publication/PubMed/5822067" } ] }, { "title": "Purification and properties of human N-acetylgalactosamine-6-sulfate sulfatase.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Lim CT, Horwitz AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022857" } ], "reference": [ { "type": "PubMed", "id": "7213753", "url": "https://glygen.org/publication/PubMed/7213753" } ] }, { "title": "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase.", "journal": "Biochemical and biophysical 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