{ "uniprot_canonical_ac": "P38435-1", "uniprot_ac": "P38435", "uniprot_id": "VKGC_HUMAN", "mass": { "chemical_mass": 87561.0, "monoisotopic_mass": 87561.0 }, "refseq": { "ac": "NP_000812", "name": "vitamin K-dependent gamma-carboxylase isoform 1", "summary": "This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, "gene_names": [ { "name": "GGCX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P38435", "id": "P38435" }, { "name": "GC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P38435", "id": "P38435" }, { "name": "GGCX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241", "id": "NP_001298241" }, { "name": "VKCFD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241", "id": "NP_001298241" }, { "name": "hCG_34601", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P38435", "id": "P38435" } ], "protein_names": [ { "name": "Vitamin K-dependent gamma-carboxylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P38435" }, { "name": "4.1.1.90", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P38435" }, { "name": "Gamma-glutamyl carboxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P38435" }, { "name": "Peptidyl-glutamate 4-carboxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P38435" }, { "name": "Vitamin K gamma glutamyl carboxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P38435" }, { "name": "vitamin K-dependent gamma-carboxylase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812", "id": "NP_000812" }, { "name": "vitamin K-dependent gamma-carboxylase isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241", "id": "NP_001298241" }, { "name": "vitamin K-dependent gamma-carboxylase; peptidyl-glutamate 4-carboxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812", "id": "NP_000812" } ], "function": [ { "annotation": "Crystallization of human GGCX.", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "PubMed", "id": "16979907", "url": "https://glygen.org/publication/PubMed/16979907" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ] }, { "annotation": "GGCX variants leading to biallelic deficiency to gamma-carboxylate GRP cause skin laxity in VKCFD1 patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "PubMed", "id": "34816548", "url": "https://glygen.org/publication/PubMed/34816548" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ] }, { "annotation": "Gamma-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "PubMed", "id": "33507293", "url": "https://glygen.org/publication/PubMed/33507293" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ] }, { "annotation": "Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5QKY1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKY1#function" }, { "database": "UniProtKB", "id": "ARBA00002874", "url": "https://www.uniprot.org/uniprot/ARBA00002874#function" }, { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435#function" }, { "database": "PubMed", "id": "17073445", "url": "https://glygen.org/publication/PubMed/17073445" } ] }, { "annotation": "This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ] }, { "annotation": "[Partial research progress of GGCX pathogenic variation associated phenotypes].", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "PubMed", "id": "35773773", "url": "https://glygen.org/publication/PubMed/35773773" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ] } ], "disease": [ { "disease_id": "DOID:0112173", "recommended_name": { "id": "DOID:0112173", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112173", "name": "combined deficiency of vitamin K-dependent clotting factors 1", "description": "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2." }, "synonyms": [ { "id": "DOID:0112173", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112173", "name": "VKCFD1", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1", "description": "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "GGCX congenital vitamin K-dependent coagulation factors combined deficiency", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "hereditary combined deficiency of factors II, VII, IX and X", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "FMFD 3", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "VKCFD1", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "Vkcfd", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "factors II, VII, IX, and X, combined deficiency of", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "familial multiple coagulation Factor deficiency 3", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "glutamic acid, deficient gamma-carboxylation of", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "hereditary combined deficiency of vitamin K-dependent clotting factors", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "multiple coagulation Factor deficiency 3", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "vitamin K-dependent clotting factors, combined deficiency of, 1", "description": "" }, { "id": "MONDO:0010187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010187", "name": "vitamin K-dependent coagulation defect", "description": "" }, { "id": "MIM:277450", "resource": "MIM", "url": "https://www.omim.org/entry/277450", "name": "Combined deficiency of vitamin K-dependent clotting factors 1", "description": "Combined deficiency of vitamin K-dependent clotting factors 1" } ], "evidence": [ { "id": "277450", "database": "MIM", "url": "https://www.omim.org/entry/277450" } ] }, { "disease_id": "MONDO:0012570", "recommended_name": { "id": "MONDO:0012570", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012570", "name": "body skin hyperlaxity due to vitamin K-dependent 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", 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"MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P38435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P38435" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P38435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P38435" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P38435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P38435" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P38435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P38435" } ], "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/P38435" } ], "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": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXQ8", "url": "https://www.uniprot.org/uniprot/A0A8I5KXQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXQ8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXY4", "url": "https://www.uniprot.org/uniprot/A0A8I5KXY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXY4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KY98", "url": "https://www.uniprot.org/uniprot/A0A8I5KY98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KY98-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KY98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KZ18", "url": "https://www.uniprot.org/uniprot/A0A8I5KZ18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KZ18-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KZ18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJ91", "url": "https://www.uniprot.org/uniprot/A0A8I5QJ91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJ91-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJ91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA4", "url": "https://www.uniprot.org/uniprot/A0A8I5QJA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJS0", "url": "https://www.uniprot.org/uniprot/A0A8I5QJS0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJS0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJS0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKY1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKY1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WB98", "url": "https://www.uniprot.org/uniprot/F8WB98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WB98-1", "url": "https://www.uniprot.org/uniprot/F8WB98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCF0", "url": "https://www.uniprot.org/uniprot/F8WCF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCF0-1", "url": "https://www.uniprot.org/uniprot/F8WCF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P38435-1", "url": "https://www.uniprot.org/uniprot/P38435-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P38435-2", "url": "https://www.uniprot.org/uniprot/P38435-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 758, "header": "sp|P38435-1|VKGC_HUMAN Isoform 1 of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=2 CANONICAL=P38435-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KT68-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGDF", "length": 374, "header": "tr|A0A8I5KT68-1|A0A8I5KT68_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85551976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691348.1", "url": "https://www.ensembl.org/id/ENST00000691348.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509369.1", "url": "https://www.ensembl.org/id/ENSP00000509369.1" } ] } }, { "isoform_ac": "A0A8I5KV68-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGEGNCGKY", "length": 75, "header": "tr|A0A8I5KV68-1|A0A8I5KV68_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85558894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000481541.1", "url": "https://www.ensembl.org/id/ENST00000481541.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508513.1", "url": "https://www.ensembl.org/id/ENSP00000508513.1" } ] } }, { "isoform_ac": "A0A8I5KXJ8-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 533, "header": "tr|A0A8I5KXJ8-1|VKGC_HUMAN Computationally mapped isoform of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690595.1", "url": "https://www.ensembl.org/id/ENST00000690595.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508979.1", "url": "https://www.ensembl.org/id/ENSP00000508979.1" } ] } }, { "isoform_ac": "A0A8I5KXQ8-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMGTGHDAGPVLPDKLCVIPAAILVCVSPGQDIMEQPLLSVWVVGLSANIHGCKPLLIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGDF", "length": 338, "header": "tr|A0A8I5KXQ8-1|A0A8I5KXQ8_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85551976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690468.1", "url": "https://www.ensembl.org/id/ENST00000690468.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509078.1", "url": "https://www.ensembl.org/id/ENSP00000509078.1" } ] } }, { "isoform_ac": "A0A8I5KXY4-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 529, "header": "tr|A0A8I5KXY4-1|A0A8I5KXY4_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693681.1", "url": "https://www.ensembl.org/id/ENST00000693681.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510789.1", "url": "https://www.ensembl.org/id/ENSP00000510789.1" } ] } }, { "isoform_ac": "A0A8I5KY98-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFN", "length": 242, "header": "tr|A0A8I5KY98-1|A0A8I5KY98_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85554628, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688205.1", "url": "https://www.ensembl.org/id/ENST00000688205.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509673.1", "url": "https://www.ensembl.org/id/ENSP00000509673.1" } ] } }, { "isoform_ac": "A0A8I5KZ18-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMETGPVVIS", "length": 123, "header": "tr|A0A8I5KZ18-1|A0A8I5KZ18_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85558638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690108.1", "url": "https://www.ensembl.org/id/ENST00000690108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510617.1", "url": "https://www.ensembl.org/id/ENSP00000510617.1" } ] } }, { "isoform_ac": "A0A8I5QJ91-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQSACPP", "length": 484, "header": "tr|A0A8I5QJ91-1|A0A8I5QJ91_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85552292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689576.1", "url": "https://www.ensembl.org/id/ENST00000689576.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508712.1", "url": "https://www.ensembl.org/id/ENSP00000508712.1" } ] } }, { "isoform_ac": "A0A8I5QJA4-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGEGNCGKY", "length": 132, "header": "tr|A0A8I5QJA4-1|A0A8I5QJA4_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase, isoform CRA_a OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85558894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000496962.2", "url": "https://www.ensembl.org/id/ENST00000496962.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000508856.1", "url": "https://www.ensembl.org/id/ENSP00000508856.1" } ] } }, { "isoform_ac": "A0A8I5QJS0-1", "url": "", "sequence": { "sequence": "MEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 530, "header": "tr|A0A8I5QJS0-1|A0A8I5QJS0_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85555524, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693287.1", "url": "https://www.ensembl.org/id/ENST00000693287.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510264.1", "url": "https://www.ensembl.org/id/ENSP00000510264.1" } ] } }, { "isoform_ac": "A0A8I5QKY1-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWICVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 735, "header": "tr|A0A8I5QKY1-1|A0A8I5QKY1_HUMAN Computationally mapped isoform of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689276.1", "url": "https://www.ensembl.org/id/ENST00000689276.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510012.1", "url": "https://www.ensembl.org/id/ENSP00000510012.1" } ] } }, { "isoform_ac": "F8WB98-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGKLGLW", "length": 73, "header": "tr|F8WB98-1|F8WB98_HUMAN Computationally mapped isoform of Gamma-glutamyl carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85558646, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428479.3", "url": "https://www.ensembl.org/id/ENST00000428479.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000390748.3", "url": "https://www.ensembl.org/id/ENSP00000390748.3" } ] } }, { "isoform_ac": "F8WCF0-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMETGPVVIS", "length": 66, "header": "tr|F8WCF0-1|VKGC_HUMAN Computationally mapped isoform of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=1 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85558638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421496.5", "url": "https://www.ensembl.org/id/ENST00000421496.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400384.1", "url": "https://www.ensembl.org/id/ENSP00000400384.1" } ] } }, { "isoform_ac": "P38435-1", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTDPASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 758, "header": "sp|P38435-1|VKGC_HUMAN Isoform 1 of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=2 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000233838.9", "url": "https://www.ensembl.org/id/ENST00000233838.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000233838.3", "url": "https://www.ensembl.org/id/ENSP00000233838.3" } ] } }, { "isoform_ac": "P38435-2", "url": "", "sequence": { "sequence": "MAVSAGSARTSPSSGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSPFKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFSYVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRHQLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQRIFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYMYVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEVTYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF", "length": 701, "header": "sp|P38435-2|VKGC_HUMAN Isoform 2 of Vitamin K-dependent gamma-carboxylase OS=Homo sapiens OX=9606 GN=GGCX PE=1 SV=2 CANONICAL=P38435-1" }, "locus": { "chromosome": "2", "start_pos": 85561428, "end_pos": 85549937, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430215.7", "url": "https://www.ensembl.org/id/ENST00000430215.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000408045.3", "url": "https://www.ensembl.org/id/ENSP00000408045.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 459, "start_aa": "Asn", "end_pos": 459, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn459", "evidence": [ { "id": "P38435", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38435#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 550, "start_aa": "Asn", "end_pos": 550, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn550", "evidence": [ { "id": "P38435", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38435#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 570, "start_aa": "Asn", "end_pos": 570, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn570", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "evidence": [ { "id": "1894", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1894" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 627, "start_aa": "Asn", "end_pos": 627, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn627", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 653, "start_aa": "Thr", "end_pos": 653, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr653", "evidence": [ { "id": "P38435", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 653, "start_aa": "Thr", "end_pos": 653, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr653", "evidence": [ { "id": "P38435", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "P38435", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P38435" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P38435", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P38435" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr10" }, { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P38435", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P38435" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser11" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P38435", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P38435" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Vitamin K-dependent biosynthesis of gamma-carboxyglutamic acid.", "journal": "Blood", "date": "1999", "authors": "Furie B, Bouchard BA, Furie BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "10068650", "url": "https://glygen.org/publication/PubMed/10068650" } ] }, { "title": "A topological study of the human gamma-glutamyl carboxylase.", "journal": "Blood", "date": "2000", "authors": "Jin D., Stafford D.W., Wu S.-M., Nicchitta C.V., Tie J.", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "10910912", "url": "https://glygen.org/publication/PubMed/10910912" } ] }, { "title": "The vitamin K-dependent carboxylase.", "journal": "The Journal of nutrition", "date": "2000", "authors": "Berkner KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "10917896", "url": "https://glygen.org/publication/PubMed/10917896" } ] }, { "title": "Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Mutucumarana VP, Stafford DW, Stanley TB, Jin DY, Solera J, Brenner B, Azerad R, Wu SM", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "10934213", "url": "https://glygen.org/publication/PubMed/10934213" } ] }, { "title": "Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.", "journal": "Blood", "date": "2000", "authors": "Spronk HM, Farah RA, Buchanan GR, Vermeer C, Soute BA", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "11071668", "url": "https://glygen.org/publication/PubMed/11071668" } ] }, { "title": "Tethered processivity of the vitamin K-dependent carboxylase: factor IX is efficiently modified in a mechanism which distinguishes Gla's from Glu's and which accounts for comprehensive carboxylation in vivo.", "journal": "Biochemistry", "date": "2001", "authors": "Stenina O, Pudota BN, McNally BA, Hommema EL, Berkner KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "11513608", "url": "https://glygen.org/publication/PubMed/11513608" } ] }, { "title": "A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase.", "journal": "Biochemistry", "date": "2001", "authors": "Tripathy A., Jin D.Y., Presnell S.R., Stafford D.W., Lentz B.R.", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "11570873", "url": "https://glygen.org/publication/PubMed/11570873" } ] }, { "title": "Determination of disulfide bond assignment of human vitamin K-dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Pope R.M., Stafford D.W., Tie J.K., Carrick K.L., Mutucumarana V.P., Straight D.L.", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "12963724", "url": "https://glygen.org/publication/PubMed/12963724" } ] }, { "title": "Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.", "journal": "Br. J. Haematol.", "date": "2004", "authors": "Rost S, Fregin A, Koch D, Compes M, Muller CR, Oldenburg J", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "15287948", "url": "https://glygen.org/publication/PubMed/15287948" } ] }, { "title": "The vitamin K-dependent carboxylase.", "journal": "Annu. Rev. Nutr.", "date": "2005", "authors": "Berkner K.L.", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "16011462", "url": "https://glygen.org/publication/PubMed/16011462" } ] }, { "title": "Two-dimensional crystallization of human vitamin K-dependent gamma-glutamyl carboxylase.", "journal": "Journal of structural biology", "date": "2007", "authors": "Schmidt-Krey I, Haase W, Mutucumarana V, Stafford DW, Kuhlbrandt W", "evidence": [ { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" }, { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" } ], "reference": [ { "type": "PubMed", "id": "16979907", "url": "https://glygen.org/publication/PubMed/16979907" } ] }, { "title": "Bronsted analysis reveals Lys218 as the carboxylase active site base that deprotonates vitamin K hydroquinone to initiate vitamin K-dependent protein carboxylation.", "journal": "Biochemistry", "date": "2006", "authors": "Rishavy MA, Hallgren KW, Yakubenko AV, Shtofman RL, Runge KW, Berkner KL", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "17073445", "url": "https://glygen.org/publication/PubMed/17073445" } ] }, { "title": "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.", "journal": "J. Invest. Dermatol.", "date": "2007", "authors": "Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "17110937", "url": "https://glygen.org/publication/PubMed/17110937" } ] }, { "title": "Cloning and expression of the cDNA for human gamma-glutamyl carboxylase.", "journal": "Science", "date": "1991", "authors": "Wu SM, Cheung WF, Frazier D, Stafford DW", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "1749935", "url": "https://glygen.org/publication/PubMed/1749935" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435#ptm_processing" }, { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P38435-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P38435-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P38435-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P38435-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "GGCX and VKORC1 inhibit osteocalcin endocrine functions.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Ferron M, Lacombe J, Germain A, Oury F, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "25753038", "url": "https://glygen.org/publication/PubMed/25753038" } ] }, { "title": "Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone.", "journal": "Physiological reviews", "date": "1989", "authors": "Hauschka PV, Lian JB, Cole DE, Gundberg CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "2664828", "url": "https://glygen.org/publication/PubMed/2664828" } ] }, { "title": "Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Ware J, Diuguid DL, Liebman HA, Rabiet MJ, Kasper CK, Furie BC, Furie B, Stafford DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673240" } ], "reference": [ { "type": "PubMed", "id": "2738071", "url": "https://glygen.org/publication/PubMed/2738071" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P38435", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "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": "1894", "url": "https://glyconnect.expasy.org/browser/proteins/1894" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "P38435", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P38435", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" }, { "database": "O-GlcNAc Atlas", "id": "P38435", "url": "https://oglcnac.org/atlas/detail/P38435" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P38435", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "gamma-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.", "journal": "Blood", "date": "2021", "authors": "Hao Z, Jin DY, Chen X, Schurgers LJ, Stafford DW, Tie JK", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ], "reference": [ { "type": "PubMed", "id": "33507293", "url": "https://glygen.org/publication/PubMed/33507293" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P38435", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P38435", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P38435" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "GGCX variants leading to biallelic deficiency to gamma-carboxylate GRP cause skin laxity in VKCFD1 patients.", "journal": "Human mutation", "date": "2022", "authors": "Ghosh S, Kraus K, Biswas A, Muller J, Forin F, Singer H, Honing K, Hornung V, Watzka M, Oldenburg J, Czogalla-Nitsche KJ", "evidence": [ { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" }, { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" } ], "reference": [ { "type": "PubMed", "id": "34816548", "url": "https://glygen.org/publication/PubMed/34816548" } ] }, { "title": "[Partial research progress of GGCX pathogenic variation associated phenotypes].", "journal": "Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics", "date": "2022", "authors": "Shen G, Liu H, Shen Y, Xi S", "evidence": [ { "database": "RefSeq", "id": "NP_000812", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000812" }, { "database": "RefSeq", "id": "NP_001298241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001298241" } ], "reference": [ { "type": "PubMed", "id": "35773773", "url": "https://glygen.org/publication/PubMed/35773773" } ] }, { "title": "Effect of propeptide mutations on post-translational processing of factor IX. Evidence that beta-hydroxylation and gamma-carboxylation are independent events.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Rabiet MJ, Jorgensen MJ, Furie B, Furie BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673240", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673240" } ], "reference": [ { "type": "PubMed", "id": "3667614", "url": "https://glygen.org/publication/PubMed/3667614" } ] }, { "title": "Isolation and sequence of the vitamin K-dependent protein from human bone. Undercarboxylation of the first glutamic acid residue.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Poser JW, Esch FS, Ling NC, Price PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "6967872", "url": "https://glygen.org/publication/PubMed/6967872" } ] }, { "title": "The protein encoded by a growth arrest-specific gene (gas6) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade.", "journal": "Molecular and cellular biology", "date": "1993", "authors": "Manfioletti G, Brancolini C, Avanzi G, Schneider C", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "8336730", "url": "https://glygen.org/publication/PubMed/8336730" } ] }, { "title": "Processive post-translational modification. Vitamin K-dependent carboxylation of a peptide substrate.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Morris DP, Stevens RD, Wright DJ, Stafford DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-159740", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740" } ], "reference": [ { "type": "PubMed", "id": "8530480", "url": "https://glygen.org/publication/PubMed/8530480" } ] }, { "title": "Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase.", "journal": "Blood", "date": "1997", "authors": "Solera J., Chu K., High K.A., Stafford D.W., Wu S.-M., Frazier L.D., Fu Y.Y., Sanchez-Vega B.", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "9166845", "url": "https://glygen.org/publication/PubMed/9166845" } ] }, { "title": "A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.", "journal": "Blood", "date": "1998", "authors": "Brenner B, Sanchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "reference": [ { "type": "PubMed", "id": "9845520", "url": "https://glygen.org/publication/PubMed/9845520" } ] } ], "pathway": [ { "id": "hsa:2677", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2677", "resource": "KEGG Pathway" }, { "id": "R-HSA-159740", "name": "Gamma-carboxylation of protein precursors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159740", "resource": "Reactome", "description": "Gamma-carboxylation of protein precursors" }, { "id": "R-HSA-9673240", "name": "Defective gamma-carboxylation of F9", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673240", "resource": "Reactome", "description": "Defective gamma-carboxylation of F9" } ], "orthologs": [ { "uniprot_canonical_ac": "O88496-1", "protein_name": "Vitamin K-dependent gamma-carboxylase", "gene_name": "Ggcx", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAVHRGSARAAPASDKVQKNKPAQTSGLEQGSRMARIFGFEWADLSSWQSVVTLLNRPTDPANLAVFRFLFAFLMLLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLWYRLSCMLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLSAQKKNAHVPLWNYTVLRGQIFIVYFIAGVKKLDADWVEGYSMEHLSRHWLFSPFKLVLSEELTSLLVVHWCGLLLDLSAGFLLFFDASRPIGLVFVSYFHCMNSQLFSIGMFPYVMLASSPLFCSAEWPRKLVARCPKRLQELLPAKAAPRPSASCVYKRARAKAGQKPGLRHHLGTVFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGLTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSLLLPKYNVTEPQIYFDIWVSINDRFQQRLFDPRVDIVQAVWSPFRRTPWVQPLLMDLSPWRTKLQDIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTVSSSPSCYMYIYVNTTEVALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQRKLQEIERRRNSPLHERFLRFVLRKLYVFRRSFLMTRISLRNLLFGRPSLEQLAQEVTYANLRPFEPVDESSASNTDSSDPHPSEPDSEHVHSEL", "length": 758 }, "evidence": [ { "id": "45231964", "url": "http://www.informatics.jax.org/homology/45231964", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9QYC7-1", "protein_name": "Vitamin K-dependent gamma-carboxylase", "gene_name": "Ggcx", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAVHRGSALVAPASDKVQKNKSAQTSGLKQGSRMEKILGFEWTDLSSWQSVVTLLNKPTDPANLAVFRFLFAFLMLLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYTIMFLGALGMMLGLCYRLSCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYWSVDGLLNARKKNAHVPLWNYTVLRGQIFIVYFIAGVKKLDADWVGGYSMEHLSRHWLFSPFKLVLSEELTSLLVVHWCGLLLDLSAGFLLFFDASRPVGLFFVSYFHCMNSQLFSIGMFPYVMLASSPLFCSAEWPRKLVARCPKRLQELLPTKAAPRPSASCVYKRSRGKAGPKPGLRHQLGAIFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGLTGELGYLNPGVFTQSRRWKDHADMLKQYATCLSLLLPKYNVTEPQIYFDIWVSINDRFQQRLFDPRVDIVQAVWSPFQRTPWVQPLLMDLSPWRTKLQDIKSSLDNHTEVVFIADFPGLHLENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLQEGEKMQLPAGEYHKVYTVSSSPSCYMYVYVNTTEVALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFLRRQRKLQEIERRRNSPFHERFLRFVLRKLYVFRRSFLMTRISLRNLLLGRPSLEQLAQEVTYANLRPFEPVDESSASNTDSSNHPSEPDSEHVHSEF", "length": 757 }, "evidence": [ { "id": "45231964", "url": "http://www.informatics.jax.org/homology/45231964", "database": "MGI" }, { "id": "P38435", "url": "https://omabrowser.org/oma/group/P38435/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "gamma-glutamyl carboxylase activity", "id": "GO:0008488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008488", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" }, { "name": "vitamin binding", "id": "GO:0019842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019842", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "peptidyl-glutamic acid carboxylation", "id": "GO:0017187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017187", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" }, { "name": "protein modification process", "id": "GO:0036211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" }, { "name": "vitamin K metabolic process", "id": "GO:0042373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042373", "evidence": [ { "database": "UniProtKB", "id": "P38435", "url": "https://www.uniprot.org/uniprot/P38435" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "vitamin K-dependent gamma-carboxylase O-glycosylated 1 (human)", "definition": "A vitamin K-dependent gamma-carboxylase (human) that has been O-glycosylated at the residue equivalent to Thr-653 of the amino acid sequence represented by UniProtKB:P38435-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P38435-1, Thr-653, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000056426", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000056426" } ] } ], "site_annotation": [ { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 389, "end_pos": 391, "annotation": "n_glycosylation_sequon" }, { "start_pos": 459, "end_pos": 461, "annotation": "n_glycosylation_sequon" }, { "start_pos": 525, "end_pos": 527, "annotation": "n_glycosylation_sequon" }, { "start_pos": 550, "end_pos": 552, "annotation": "n_glycosylation_sequon" }, { "start_pos": 570, "end_pos": 572, "annotation": "n_glycosylation_sequon" }, { "start_pos": 605, "end_pos": 607, "annotation": "n_glycosylation_sequon" }, { "start_pos": 627, "end_pos": 629, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "45140", "name": "", "equation": "2,3-epoxyphylloquinone + 4-carboxy-L-glutamyl-[protein] + H(+) + H2O = CO2 + L-glutamyl-[protein] + O2 + phylloquinol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O88496-1", "P38435-1", "Q9QYC7-1" ], "evidence": [ { "id": "45140", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45140" } ] }, { "id": "R-HSA-159752", "name": "GGCX gamma-carboxylates PROS1(25-676) (pro-protein S)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates eleven glutamate residues on PROS1(25-676) (pro-protein S). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-159758", "R-ALL-6806362" ], "output_participant_list": [ "R-ALL-6806366", "R-HSA-159770" ], "enzyme_list": [ "P38435-1" ], "evidence": [ { "id": "R-HSA-159752", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159752" } ] }, { "id": "R-HSA-159761", "name": "GGCX gamma-carboxylates F7(21-466) (pro-factor VII)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates ten glutamate residues on F7(21-466) (pro-factor VII). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-159848" ], "output_participant_list": [], "enzyme_list": [ "P08709-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159761", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159761" } ] }, { "id": "R-HSA-159795", "name": "GGCX gamma-carboxylates 3D-PROC(33-197) (pro-protein C light chain)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates eight glutamate residues on 3D-PROC(33-197) (pro-protein C light chain). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04070-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159795", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159795" } ] }, { "id": "R-HSA-159803", "name": "GGCX gamma-carboxylates 3D-F9(29-461) (pro-factor IX)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates twelve glutamate residues on 3D-F9(29-461) (pro-factor IX). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995; Ware et al. 1989).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-159765" ], "output_participant_list": [ "R-HSA-159866" ], "enzyme_list": [ "P00740-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159803", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159803" } ] }, { "id": "R-HSA-159819", "name": "GGCX gamma-carboxylates 3D-F10(32-179) (pro-factor X light chain)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates eleven glutamate residues on 3D-F10(32-179) (pro-factor X light chain). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00742-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159819", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159819" } ] }, { "id": "R-HSA-159826", "name": "GGCX gamma-carboxylates F2(25-622) (pro-prothrombin)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates ten glutamate residues on F2(25-622) (pro-prothrombin). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-159739" ], "output_participant_list": [ "R-HSA-159800" ], "enzyme_list": [ "P00734-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-159826", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159826" } ] }, { "id": "R-HSA-163810", "name": "GGCX gamma-carboxylates GAS6(31-691) (pro-GAS6)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates eleven glutamate residues on GAS6(31-691) (pro-GAS6). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process. The details of the gamma-carboxylation of GAS6 have not been determined directly, but are inferred from those worked out for protein S (Manfioletti et al. 1993).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-163812" ], "output_participant_list": [ "R-HSA-163795" ], "enzyme_list": [ "P38435-1" ], "evidence": [ { "id": "R-HSA-163810", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163810" } ] }, { "id": "R-HSA-163820", "name": "GGCX gamma-carboxylates PROZ(24-400) (pro-protein Z)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates thirteen glutamate residues on PROZ(24-400) (pro-protein Z). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Furie et al. 1999; Stenina et al. 2001; Morris et al. 1995).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-163816" ], "output_participant_list": [ "R-HSA-163838" ], "enzyme_list": [ "P38435-1" ], "evidence": [ { "id": "R-HSA-163820", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163820" } ] }, { "id": "R-HSA-6807214", "name": "GGCX gamma-carboxylates BGLAP(24-100) (pro-osteocalcin)", "equation": "", "summary": "GGCX (gamma glutamyl carboxylase) in the endoplasmic reticulum gamma-carboxylates three glutamate residues on BGLAP(24-100) (pro-osteocalcin). MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner 2000; Ferron et al. 2015; Furie et al. 1999; Hauschka et al. 1989; Morris et al. 1995; oser et al. 1980; Stenina et al. 2001).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-6807212" ], "output_participant_list": [ "R-HSA-6807218" ], "enzyme_list": [ "P38435-1" ], "evidence": [ { "id": "R-HSA-6807214", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807214" } ] }, { "id": "R-HSA-9673231", "name": "GGCX does not gamma-carboxylate 3D-F9(29-461) (pro-factor IX)", "equation": "", "summary": "Being a vitamin K\u2010dependent (VKD) glycoprotein, factor IX (FIX) is synthesized first as a precursor protein which then undergoes extensive posttranslational modification including \u03b3-carboxylation. The precursor FIX protein has the following parts, starting with a signal peptide at the amino-terminal end, which directs the protein to the endoplasmic reticulum (ER), and continuing with the 18 residue length propeptide. The propeptide contains the \u03b3\u2010carboxylase recognition site (\u03b3\u2010CRS) in the N\u2010terminal part of the propeptide for connecting substrate to the gamma-glutamyl carboxylase (GGCX), and a peptidase recognition site in the C\u2010terminal for cleaving by PACE/furin (Higgins\u2010Gruber SL et al. 2010). GGCX in the ER \u03b3-carboxylates twelve glutamate residues on F9(29-461) (pro-factor IX) converting the specific glutamic acids in the GLA domain to \u03b3\u2010carboxyglutamic acid residues. MK4 (vitamin K hydroquinone) is oxidized to MK4 epoxide in the process (Berkner KL 2000; Furie B et al. 1999; Stenina O et al. 2001; Morris DP et al. 1995; Ware J et al. 1989). The signal peptide and the propeptide sequence of FIX are removed before the protein is secreted into the circulation,

Naturally occurring hemophilia B (HB)-associated point mutations in the FIX propeptide sequence such as F9 N43Q/L or F9 N46S reduce affinity to GGCX resulting in reduced \u03b3-carboxylation and aberrant propeptide processing (Bentley AK et al. 1986; Rabiet MJ et al. 1987; Diuguid DL et al. 1986; Ware J et al. 1989; de la Salle C et al. 1993). FIX variants are secreted into the circulation with a mutant 18-amino acid propeptide still attached (Bentley AK et al. 1986; Galeffi P & Brownlee GG 1987). However, unprocessed FIX variants showed altered phospholipid binding properties and delayed activation by factor XIa (Liddell MB et al. 1989; Ware J et al. 1989; de la Salle C et al. 1993; Wojcik EG et al. 1997; Bristol JA et al. 1993, 1994). In addition, beta-hydroxylation of aspartic acid 110 (D110) is an independent process which does not require vitamin K and is mediated through a hydroxylation recognition site in the mature Factor IX, not in the propeptide (Rabiet MJ et al. 1987).

The Reactome event describes defective \u03b3-carboxylation of FIX variants due to HB-associated genetic defects in the propeptide sequence of the F9 gene.
", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00740-1", "P38435-1" ], "evidence": [ { "id": "R-HSA-9673231", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673231" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6806362", "participant_name": "MK4 [endoplasmic reticulum lumen]", "crossref": [ { "id": "000003874199", "database": "ZINC", "url": "" }, { "id": "HMDB0030017", "database": "HMDB Metabolite", "url": "" }, { "id": "78277", "database": "ChEBI", "url": "" }, { "id": "HMDB0030020", "database": "HMDB Metabolite", "url": "" }, { "id": "78277", "database": "ChEBI", "url": "" }, { "id": "HMDB0030017", "database": "HMDB Metabolite", "url": "" }, { "id": "HMDB0030020", "database": "HMDB Metabolite", "url": "" }, { "id": "000003874199", "database": "ZINC", "url": "" }, { "id": "78277", "database": "ChEBI", "url": "" }, { 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