{ "uniprot_canonical_ac": "Q8WWF5-1", "uniprot_ac": "Q8WWF5", "uniprot_id": "ZNRF4_HUMAN", "mass": { "chemical_mass": 46958.0, "monoisotopic_mass": 46958.0 }, "refseq": {}, "gene_names": [ { "name": "ZNRF4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8WWF5", "id": "Q8WWF5" }, { "name": "RNF204", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8WWF5", "id": "Q8WWF5" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase ZNRF4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8WWF5" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WWF5" }, { "name": "Nixin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WWF5" }, { "name": "RING finger protein 204", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WWF5" }, { "name": "RING-type E3 ubiquitin transferase ZNRF4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WWF5" }, { "name": "Zinc/RING finger protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8WWF5" } ], "function": [ { "annotation": "E3 ubiquitin-protein ligase that acts as a negative regulator of NOD2 signaling by mediating ubiquitination and degradation of RIPK2 (PubMed:28656966). Also catalyzes ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q8WWF5", "url": "https://www.uniprot.org/uniprot/Q8WWF5#function" }, { "database": "UniProtKB", "id": "Q9DAH2", "url": "https://www.uniprot.org/uniprot/Q9DAH2#function" }, { "database": "PubMed", "id": "21205830", "url": "https://glygen.org/publication/PubMed/21205830" }, { "database": "PubMed", "id": "28656966", "url": "https://glygen.org/publication/PubMed/28656966" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs756378147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756378147" }, { "id": "rs756378147", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756378147" }, { "id": "rs756378147", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756378147#frequency_tab" }, { "id": "rs756378147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756378147" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 106, "end_pos": 106, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "19", "chr_pos": "5455807", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161517550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161517550" }, { "id": "rs1161517550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1161517550#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->KRS).", "chr_id": "19", "chr_pos": "5455947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412942015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412942015" }, { "id": "rs1412942015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412942015#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "19", "chr_pos": "5455946", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1332714132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1332714132" }, { "id": "rs1332714132", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1332714132" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 154, "end_pos": 154, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRF).", "chr_id": "19", "chr_pos": "5455952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S154", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377472519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377472519" }, { "id": "rs377472519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377472519" }, { "id": "rs377472519", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377472519#frequency_tab" }, { "id": "rs377472519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377472519" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 165, "end_pos": 165, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "19", "chr_pos": "5455984", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q8WWF5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8WWF5" } ], "glycoeffect": [], "start_pos": 169, "end_pos": 169, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "5455996", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D169", "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 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 229, "start_aa": "Asn", "end_pos": 229, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn229", "evidence": [ { "id": "Q8WWF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WWF5#ptm_processing" }, { "id": "21205830", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21205830" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "A systematic search for endoplasmic reticulum (ER) membrane-associated RING finger proteins identifies Nixin/ZNRF4 as a regulator of calnexin stability and ER homeostasis.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Neutzner A, Neutzner M, Benischke AS, Ryu SW, Frank S, Youle RJ, Karbowski M", "evidence": [ { "database": "UniProtKB", "id": "Q8WWF5", "url": "https://www.uniprot.org/uniprot/Q8WWF5#ptm_processing" }, { "database": "UniProtKB", "id": "Q8WWF5", "url": "https://www.uniprot.org/uniprot/Q8WWF5" } ], "reference": [ { "type": "PubMed", "id": "21205830", "url": "https://glygen.org/publication/PubMed/21205830" } ] }, { "title": "Tumour-associated mutations of PA-TM-RING ubiquitin ligases RNF167/RNF13 identify the PA domain as a determinant for endosomal localization.", "journal": "Biochem. J.", "date": "2014", "authors": "van Dijk JR, Yamazaki Y, Palmer RH", "evidence": [ { "database": "UniProtKB", "id": "Q8WWF5", "url": "https://www.uniprot.org/uniprot/Q8WWF5" } ], "reference": [ { "type": "PubMed", "id": "24387786", "url": "https://glygen.org/publication/PubMed/24387786" } ] }, { "title": "E3 Ubiquitin ligase ZNRF4 negatively regulates NOD2 signalling and induces tolerance to MDP.", "journal": "Nat. 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