{ "uniprot_canonical_ac": "P04921-1", "uniprot_ac": "P04921", "uniprot_id": "GLPC_HUMAN", "mass": { "chemical_mass": 13811.0, "monoisotopic_mass": 13811.0 }, "refseq": { "ac": "NP_001243513", "name": "glycophorin-C isoform 3", "summary": "Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" }, "gene_names": [ { "name": "GYPC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04921", "id": "P04921" }, { "name": "CD236; CD236R; GE; GPC; GPD; GYPD; PAS-2; PAS-2'", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513", "id": "NP_001243513" }, { "name": "GLPC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04921", "id": "P04921" }, { "name": "GPC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04921", "id": "P04921" }, { "name": "GYPC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513", "id": "NP_001243513" } ], "protein_names": [ { "name": "Glycophorin-C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04921" }, { "name": "GPD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "Glycoconnectin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "Glycophorin-D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "Glycoprotein beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "PAS-2'", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "Sialoglycoprotein D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04921" }, { "name": "glycophorin-C isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513", "id": "NP_001243513" }, { "name": "glycophorin-D; glycoconnectin; glycoprotein beta; sialoglycoprotein D; Gerbich blood group antigen; Gerbich antigen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513", "id": "NP_001243513" } ], "function": [ { "annotation": "Data show that the receptor for Plasmodium falciparum erythrocyte-binding antigen 140 (EBA140) is glycophorin C (GYPC) and that this interaction mediates a principal P. falciparum invasion pathway into human erythrocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" }, { "database": "PubMed", "id": "12469115", "url": "https://glygen.org/publication/PubMed/12469115" } ] }, { "annotation": "Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" } ] }, { "annotation": "Glycophorin C is identified as the receptor for PfEBP-2, the erythrocyte binding ligand of Plasmodium falciparum, and the binding domain on GPC is determined to be amino acid residues 14 through 22 within exon 2.", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" }, { "database": "PubMed", "id": "12576308", "url": "https://glygen.org/publication/PubMed/12576308" } ] }, { "annotation": "Lu/BCAM-mediated binding to laminin-alpha5 is restricted by interacting, in cis, with glycophorin-C-derived sialic acid residues. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" }, { "database": "PubMed", "id": "29344581", "url": "https://glygen.org/publication/PubMed/29344581" } ] }, { "annotation": "Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" }, { "database": "PubMed", "id": "34562771", "url": "https://glygen.org/publication/PubMed/34562771" } ] }, { "annotation": "This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells.", "evidence": [ { "database": "UniProtKB", "id": "P04921", "url": "https://www.uniprot.org/uniprot/P04921#function" } ] } ], "disease": [ { "disease_id": "MONDO:0021024", "recommended_name": { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, Severe, resistance to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, Severe, susceptibility to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, cerebral, reduced risk of", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, cerebral, resistance to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, cerebral, susceptibility to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, protection against", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, resistance to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, susceptibility to", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "malaria, vivax, protection against", "description": "" }, { "id": "MONDO:0021024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021024", "name": "resistance to malaria due to G6PD deficiency", "description": "" } ], "evidence": [ { "id": "611162", "database": "MIM", "url": "https://www.omim.org/entry/611162" } ] }, { "disease_id": "MONDO:0044284", "recommended_name": { "id": "MONDO:0044284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044284", "name": "obsolete blood group, gerbich system", "description": "OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." }, "synonyms": [ { "id": "MONDO:0044284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044284", "name": "blood group, Gerbich", "description": "" }, { "id": "MONDO:0044284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044284", "name": "GE", "description": "" }, { "id": "MONDO:0044284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044284", "name": "Gerbich blood Group system", "description": "" }, { "id": "MONDO:0044284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044284", "name": "blood group, Gerbich system", "description": "" } ], "evidence": [ { "id": "616089", "database": "MIM", "url": "https://www.omim.org/entry/616089" } ] } ], "snv": [ { "evidence": [ { "id": "rs754099688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754099688" }, { "id": "rs754099688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754099688" }, { "id": "rs754099688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754099688" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA); o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "126656291", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04921", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04921" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->NSM); o-glyco-site-loss (T->M).", "chr_id": "2", "chr_pos": "126656292", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T10", "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": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768999843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768999843" }, { "id": "rs768999843", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768999843" }, { "id": "rs768999843", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768999843" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "126656307", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374806492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374806492" }, { "id": "rs374806492", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374806492" }, { "id": "rs374806492", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374806492#frequency_tab" }, { "id": "rs374806492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374806492" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 26, "end_pos": 26, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "2", "chr_pos": "126690282", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S26", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374806492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374806492" }, { "id": "rs374806492", "database": "ExAC", "url": 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04921", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04921" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04921" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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Chem.", "date": "1989", "authors": "Colin Y, Le Van Kim C, Tsapis A, Clerget M, d'Auriol L, London J, Galibert F, Cartron JP", "evidence": [ { "database": "UniProtKB", "id": "P04921", "url": "https://www.uniprot.org/uniprot/P04921" } ], "reference": [ { "type": "PubMed", "id": "2917976", "url": "https://glygen.org/publication/PubMed/2917976" } ] }, { "title": "Glycophorin-C sialylation regulates Lu/BCAM adhesive capacity during erythrocyte aging.", "journal": "Blood advances", "date": "2018", "authors": "Klei TRL, de Back DZ, Asif PJ, Verkuijlen PJJH, Veldthuis M, Ligthart PC, Berghuis J, Clifford E, Beuger BM, van den Berg TK, van Zwieten R, El Nemer W, van Bruggen R", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" } ], "reference": [ { "type": "PubMed", "id": "29344581", "url": "https://glygen.org/publication/PubMed/29344581" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P04921", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2021", "authors": "Lin JJ, Loucks CM, Trueman JN, Drogemoller BI, Wright GEB, Yoshida EM, Ford JA, Lee SS, Kim RB, Al-Judaibi B, Schwarz UI, Ramji A, Tam E, Ross CJ, Carleton BC", "evidence": [ { "database": "RefSeq", "id": "NP_001243513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243513" } ], "reference": [ { "type": "PubMed", "id": "34562771", "url": "https://glygen.org/publication/PubMed/34562771" } ] }, { "title": "The Webb (Wb) antigen in South Wales donors.", "journal": "Human heredity", "date": "1986", "authors": "Bloomfield L, Rowe GP, Green C", "evidence": [ { "database": "dbSNP", "id": "rs121912760", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912760" } ], "reference": [ { "type": "PubMed", "id": "3539763", "url": "https://glygen.org/publication/PubMed/3539763" } ] }, { "title": "Structure of human erythrocyte glycophorin C deduced from cDNA analysis.", "journal": "Rev. 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Purification and sequence analysis.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Blanchard D, Dahr W, Hummel M, Latron F, Beyreuther K, Cartron JP", "evidence": [ { "database": "UniProtKB", "id": "P04921", "url": "https://www.uniprot.org/uniprot/P04921#ptm_processing" }, { "database": "UniProtKB", "id": "P04921", "url": "https://www.uniprot.org/uniprot/P04921" } ], "reference": [ { "type": "PubMed", "id": "3571235", "url": "https://glygen.org/publication/PubMed/3571235" } ] }, { "title": "Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types. Immunochemical study and genomic analysis with cDNA probes.", "journal": "Eur. J. 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antigen family by Opa variants of Neisseria gonorrhoeae.", "journal": "Infection and immunity", "date": "1997", "authors": "Bos MP, Grunert F, Belland RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9169774", "url": "https://glygen.org/publication/PubMed/9169774" } ] }, { "title": "An antagonist decoy receptor and a death domain-containing receptor for TRAIL.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Pan G, Ni J, Wei YF, Yu G, Gentz R, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9242610", "url": "https://glygen.org/publication/PubMed/9242610" } ] }, { "title": "A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Tsuji M, Ezumi Y, Arai M, Takayama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9295288", "url": "https://glygen.org/publication/PubMed/9295288" } ] }, { "title": "Epithelial cell adhesion molecule (Ep-CAM) modulates cell-cell interactions mediated by classic cadherins.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Litvinov SV, Balzar M, Winter MJ, Bakker HA, Briaire-de Bruijn IH, Prins F, Fleuren GJ, Warnaar SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9382878", "url": "https://glygen.org/publication/PubMed/9382878" } ] }, { "title": "Identification of the lectin-like receptor for oxidized low-density lipoprotein in human macrophages and its potential role as a scavenger receptor.", "journal": "The Biochemical journal", "date": "1998", "authors": "Yoshida H, Kondratenko N, Green S, Steinberg D, Quehenberger O", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9693095", "url": "https://glygen.org/publication/PubMed/9693095" } ] }, { "title": "Ligand specificity of LOX-1, a novel endothelial receptor for oxidized low density lipoprotein.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1998", "authors": "Moriwaki H, Kume N, Sawamura T, Aoyama T, Hoshikawa H, Ochi H, Nishi E, Masaki T, Kita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9763524", "url": "https://glygen.org/publication/PubMed/9763524" } ] } ], "pathway": [ { "id": "R-HSA-202733", "name": "Cell surface interactions at the vascular wall", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "resource": "Reactome", "description": "Cell surface interactions at the vascular wall" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6XFR6-1", "protein_name": "Glycophorin-C", "gene_name": "Gypc", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSPVRTPPPERLEPNPGMSYAVMEIAIIAAVITAVALVLVCLLFLMLRYLYRHKGTYYTNEAKGTEFAESADAALQSDPALQDAGDTSKKEYFI", "length": 95 }, "evidence": [ { "id": "45918965", "url": "http://www.informatics.jax.org/homology/45918965", "database": "MGI" }, { "id": "P04921", "url": "https://omabrowser.org/oma/group/P04921/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q78HU7-1", "protein_name": "Glycophorin-C", "gene_name": "Gypc", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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Example: UniProtKB:P04921-1, Ser-15, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053407", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053407" } ] }, { "name": "glycophorin-C O-glycosylated 2 (human)", "definition": "A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Ser-42 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04921-1, Ser-42, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:22171320, PMID:30459171]", "evidence": [ { "id": "PR:000053408", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053408" } ] }, { "name": "glycophorin-C O-glycosylated 3 (human)", "definition": "A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053409", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053409" } ] }, { "name": "glycophorin-C O-glycosylated 4 (human)", "definition": "A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G57317CE. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053410", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053410" } ] }, { "name": "glycophorin-C O-glycosylated 5 (human)", "definition": "A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-31 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P04921-1, Thr-31, MOD:00005~GNO:G73004SD. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053411", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053411" } ] }, { "name": "glycophorin-C O-glycosylated 6 (human)", "definition": "A glycophorin-C (human) that has been O-glycosylated at the residue equivalent to Thr-33 of the amino acid sequence represented by UniProtKB:P04921-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04921-1, Thr-33, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053412", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053412" } ] } ], "site_annotation": [ { "start_pos": 8, "end_pos": 10, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated with core 1 or possibly core 8 glycans.", "evidence": [ { "database": "UniProtKB", "id": "P04921", "url": "https://www.uniprot.org/uniprot/P04921" }, { "database": "PubMed", "id": "7106126", "url": "https://glygen.org/publication/PubMed/7106126" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 8 ], "o_linked_sites": [ 3, 4, 6, 9, 10, 15, 24, 26, 27, 28, 31, 32, 33, 42 ], "snv_sites": [ 4, 8, 10, 15, 26, 27, 31, 42, 72, 97 ], "glycation_sites": [], "phosphorylation_sites": [ 104, 122 ], "sequon_annotation_sites": [ { "start_pos": 8, "end_pos": 10 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 31 }, { "field": "total_sites", "count": 16 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 14 }, { "field": "o_linked_glycan_sites", "count": 19 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 14 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 14 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 86 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }