{ "uniprot_canonical_ac": "P41238-1", "uniprot_ac": "P41238", "uniprot_id": "ABEC1_HUMAN", "mass": { "chemical_mass": 28192.0, "monoisotopic_mass": 28192.0 }, "refseq": { "ac": "NP_001291495", "name": "C->U-editing enzyme APOBEC-1 isoform a", "summary": "This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" }, "gene_names": [ { "name": "APOBEC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P41238", "id": "P41238" }, { "name": "APO1; APOBEC-1; BEDP; CDAR1; HEPR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495", "id": "NP_001291495" }, { "name": "APOBEC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495", "id": "NP_001291495" } ], "protein_names": [ { "name": "C->U-editing enzyme APOBEC-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P41238" }, { "name": "3.5.4.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "3.5.4.36", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "APO1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "APOBEC-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "Apolipoprotein B mRNA-editing enzyme 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "Apolipoprotein B mRNA-editing enzyme catalytic subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "C->U-editing enzyme APOBEC-1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495", "id": "NP_001291495" }, { "name": "C->U-editing enzyme APOBEC-1; apolipoprotein B mRNA editing enzyme complex-1; apolipoprotein B mRNA-editing enzyme 1; mRNA(cytosine(6666)) deaminase 1; apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495", "id": "NP_001291495" }, { "name": "HEPR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" }, { "name": "mRNA(cytosine(6666)) deaminase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41238" } ], "function": [ { "annotation": "APOBEC mutagenesis is a common process in normal human small intestine.", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" }, { "database": "PubMed", "id": "36702998", "url": "https://glygen.org/publication/PubMed/36702998" } ] }, { "annotation": "APOBEC1 cytosine deaminase activity on single-stranded DNA is suppressed by replication protein A.", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" }, { "database": "PubMed", "id": "33330905", "url": "https://glygen.org/publication/PubMed/33330905" } ] }, { "annotation": "Cytidine deaminase catalyzing the cytidine to uridine postranscriptional editing of a variety of mRNAs (PubMed:30844405). Form complexes with cofactors that confer differential editing activity and selectivity. Responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the apolipoprotein B mRNA (PubMed:24916387). Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA (PubMed:11727199). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238#function" }, { "database": "PubMed", "id": "11727199", "url": "https://glygen.org/publication/PubMed/11727199" }, { "database": "PubMed", "id": "24916387", "url": "https://glygen.org/publication/PubMed/24916387" }, { "database": "PubMed", "id": "30844405", "url": "https://glygen.org/publication/PubMed/30844405" }, { "database": "UniProtKB", "id": "P51908", "url": "https://www.uniprot.org/uniprot/P51908#function" } ] }, { "annotation": "Harnessing A3G for efficient and selective C-to-T conversion at C-rich sequences. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" }, { "database": "PubMed", "id": "33602235", "url": "https://glygen.org/publication/PubMed/33602235" } ] }, { "annotation": "The roles of APOBEC-mediated RNA editing in SARS-CoV-2 mutations, replication and fitness. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" }, { "database": "PubMed", "id": "36100631", "url": "https://glygen.org/publication/PubMed/36100631" } ] }, { "annotation": "This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P41238", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P41238" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "7652759", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E41", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P41238", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P41238" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P41238", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P41238" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P41238", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P41238" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", 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{ "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P41238", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P41238" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P41238", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P41238" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": 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"https://www.uniprot.org/uniprot/A0A0B4J232-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P41238-1", "url": "https://www.uniprot.org/uniprot/P41238-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTSEKGPSTGDPTLRRRIEPWEFDVFYDPRELRKEACLLYEIKWGMSRKIWRSSGKNTTNHVEVNFIKKFTSERDFHPSMSCSITWFLSWSPCWECSQAIREFLSRHPGVTLVIYVARLFWHMDQQNRQGLRDLVNSGVTIQIMRASEYYHCWRNFVNYPPGDEAHWPQYPPLWMMLYALELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLATGLIHPSVAWR", "length": 236, "header": "sp|P41238-1|ABEC1_HUMAN Isoform 1 of C->U-editing enzyme APOBEC-1 OS=Homo sapiens OX=9606 GN=APOBEC1 PE=1 SV=3 CANONICAL=P41238-1" }, "isoforms": [ { "isoform_ac": "A0A0B4J232-1", "url": "", "sequence": { "sequence": "MTSEKGEESNPGSLTSSMTPENFVKRPVCSTKSSGA", "length": 36, "header": "tr|A0A0B4J232-1|ABEC1_HUMAN Computationally mapped isoform of C->U-editing enzyme APOBEC-1 OS=Homo sapiens OX=9606 GN=APOBEC1 PE=1 SV=1 CANONICAL=P41238-1" }, "locus": { "chromosome": "12", "start_pos": 7665872, "end_pos": 7652744, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000467171.2", "url": "https://www.ensembl.org/id/ENST00000467171.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000436415.2", "url": "https://www.ensembl.org/id/ENSP00000436415.2" } ] } }, { "isoform_ac": "P41238-1", "url": "", "sequence": { "sequence": "MTSEKGPSTGDPTLRRRIEPWEFDVFYDPRELRKEACLLYEIKWGMSRKIWRSSGKNTTNHVEVNFIKKFTSERDFHPSMSCSITWFLSWSPCWECSQAIREFLSRHPGVTLVIYVARLFWHMDQQNRQGLRDLVNSGVTIQIMRASEYYHCWRNFVNYPPGDEAHWPQYPPLWMMLYALELHCIILSLPPCLKISRRWQNHLTFFRLHLQNCHYQTIPPHILLATGLIHPSVAWR", "length": 236, "header": "sp|P41238-1|ABEC1_HUMAN Isoform 1 of C->U-editing enzyme APOBEC-1 OS=Homo sapiens OX=9606 GN=APOBEC1 PE=1 SV=3 CANONICAL=P41238-1" }, "locus": { "chromosome": "12", "start_pos": 7665872, "end_pos": 7649550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000229304.5", "url": "https://www.ensembl.org/id/ENST00000229304.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000229304.4", "url": "https://www.ensembl.org/id/ENSP00000229304.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 47, "end_pos": 47, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P41238", "url": "http://phospho.elm.eu.org/byAccession/P41238.html" }, { "database": "iPTMnet", "id": "P41238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41238" }, { "database": "PubMed", "id": "11463337", "url": "https://glygen.org/publication/PubMed/11463337" } ], "site_lbl": "Ser47" }, { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P41238", "url": "http://phospho.elm.eu.org/byAccession/P41238.html" }, { "database": "iPTMnet", "id": "P41238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41238" }, { "database": "PubMed", "id": "11463337", "url": "https://glygen.org/publication/PubMed/11463337" } ], "site_lbl": "Ser72" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Two-hybrid cloning identifies an RNA-binding protein, GRY-RBP, as a component of apobec-1 editosome.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2001", "authors": "Chan L., Chang B.-H., Lau P.P.", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "11352648", "url": "https://glygen.org/publication/PubMed/11352648" } ] }, { "title": "Phosphorylation is a regulatory mechanism in apolipoprotein B mRNA editing.", "journal": "The Biochemical journal", "date": "2001", "authors": "Chen Z, Eggerman TL, Patterson AP", "evidence": [ { "database": "iPTMnet", "id": "P41238", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P41238" } ], "reference": [ { "type": "PubMed", "id": "11463337", "url": "https://glygen.org/publication/PubMed/11463337" } ] }, { "title": "Isolation, characterization and developmental regulation of the human apobec-1 complementation factor (ACF) gene.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Henderson JO, Blanc V, Davidson NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-72200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72200" } ], "reference": [ { "type": "PubMed", "id": "11718896", "url": "https://glygen.org/publication/PubMed/11718896" } ] }, { "title": "C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Mukhopadhyay D, Anant S, Lee RM, Kennedy S, Viskochil D, Davidson NO", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "11727199", "url": "https://glygen.org/publication/PubMed/11727199" } ] }, { "title": "NMR structure of the apoB mRNA stem-loop and its interaction with the C to U editing APOBEC1 complementary factor.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Maris C, Masse J, Chester A, Navaratnam N, Allain FH", "evidence": [ { "database": "Reactome", "id": "R-HSA-75094", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75094" } ], "reference": [ { "type": "PubMed", "id": "15659357", "url": "https://glygen.org/publication/PubMed/15659357" } ] }, { "title": "Proprotein convertase subtilisin/kexin type 9 interacts with apolipoprotein B and prevents its intracellular degradation, irrespective of the low-density lipoprotein receptor.", "journal": "Arterioscler. Thromb. Vasc. Biol.", "date": "2012", "authors": "Samarghandi A., Sun H., Teng B.B., Xiong M., Yao Z., Zhang N.", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "22580899", "url": "https://glygen.org/publication/PubMed/22580899" } ] }, { "title": "C to U RNA editing mediated by APOBEC1 requires RNA-binding protein RBM47.", "journal": "EMBO Rep.", "date": "2014", "authors": "Fossat N, Tourle K, Radziewic T, Barratt K, Liebhold D, Studdert JB, Power M, Jones V, Loebel DA, Tam PP", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "24916387", "url": "https://glygen.org/publication/PubMed/24916387" } ] }, { "title": "Comparison of RNA Editing Activity of APOBEC1-A1CF and APOBEC1-RBM47 Complexes Reconstituted in HEK293T Cells.", "journal": "J. Mol. Biol.", "date": "2019", "authors": "Chen X.S., Arnold D.B., Wolfe A.D.", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "30844405", "url": "https://glygen.org/publication/PubMed/30844405" } ] }, { "title": "APOBEC1 cytosine deaminase activity on single-stranded DNA is suppressed by replication protein A.", "journal": "Nucleic acids research", "date": "2021", "authors": "Wong L, Vizeacoumar FS, Vizeacoumar FJ, Chelico L", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" } ], "reference": [ { "type": "PubMed", "id": "33330905", "url": "https://glygen.org/publication/PubMed/33330905" } ] }, { "title": "Harnessing A3G for efficient and selective C-to-T conversion at C-rich sequences.", "journal": "BMC biology", "date": "2021", "authors": "Yu W, Li J, Huang S, Li X, Li P, Li G, Liang A, Chi T, Huang X", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" } ], "reference": [ { "type": "PubMed", "id": "33602235", "url": "https://glygen.org/publication/PubMed/33602235" } ] }, { "title": "The roles of APOBEC-mediated RNA editing in SARS-CoV-2 mutations, replication and fitness.", "journal": "Scientific reports", "date": "2022-09-13", "authors": "Kim Kyumin, Calabrese Peter, Wang Shanshan, Qin Chao, Rao Youliang, Feng Pinghui, Chen Xiaojiang S", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" } ], "reference": [ { "type": "PubMed", "id": "36100631", "url": "https://glygen.org/publication/PubMed/36100631" } ] }, { "title": "APOBEC mutagenesis is a common process in normal human small intestine.", "journal": "Nature genetics", "date": "2023-02", "authors": "Wang Yichen, Robinson Philip S, Coorens Tim H H, Moore Luiza, Lee-Six Henry, Noorani Ayesha, Sanders Mathijs A, Jung Hyunchul, Katainen Riku, Heuschkel Robert, Brunton-Sim Roxanne, Weston Robyn, Read Debbie, Nobbs Beverley, Fitzgerald Rebecca C, Saeb-Parsy Kourosh, Martincorena I\u00f1igo, Campbell Peter J, Rushbrook Simon, Zilbauer Matthias, Buczacki Simon James Alexander, Stratton Michael R", "evidence": [ { "database": "RefSeq", "id": "NP_001291495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291495" } ], "reference": [ { "type": "PubMed", "id": "36702998", "url": "https://glygen.org/publication/PubMed/36702998" } ] }, { "title": "Dimeric structure of a human apolipoprotein B mRNA editing protein and cloning and chromosomal localization of its gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1994", "authors": "Lau PP, Zhu HJ, Baldini A, Charnsangavej C, Chan L", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "8078915", "url": "https://glygen.org/publication/PubMed/8078915" } ] }, { "title": "Molecular cloning of a human small intestinal apolipoprotein B mRNA editing protein.", "journal": "Nucleic Acids Res.", "date": "1994", "authors": "Hadjiagapiou C, Giannoni F, Funahashi T, Skarosi SF, Davidson NO", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" }, { "database": "Reactome", "id": "R-HSA-72200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72200" } ], "reference": [ { "type": "PubMed", "id": "8208612", "url": "https://glygen.org/publication/PubMed/8208612" } ] }, { "title": "Cloning of an Apobec-1-binding protein that also interacts with apolipoprotein B mRNA and evidence for its involvement in RNA editing.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Lau PP, Zhu HJ, Nakamuta M, Chan L", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "8999813", "url": "https://glygen.org/publication/PubMed/8999813" } ] }, { "title": "Characterization of the human apobec-1 gene: expression in gastrointestinal tissues determined by alternative splicing with production of a novel truncated peptide.", "journal": "J. Lipid Res.", "date": "1997", "authors": "Baunoch D.A., Davidson N.O., Funahashi T., Hirano K., Min J.", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "9186903", "url": "https://glygen.org/publication/PubMed/9186903" } ] }, { "title": "Human apolipoprotein B RNA editing deaminase gene (APOBEC1).", "journal": "Genomics", "date": "1998", "authors": "Fujino T., Navaratnam N., Scott J.", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "reference": [ { "type": "PubMed", "id": "9479499", "url": "https://glygen.org/publication/PubMed/9479499" } ] } ], "pathway": [ { "id": "hsa:339", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:339", "resource": "KEGG Pathway" }, { "id": "R-HSA-72200", "name": "mRNA Editing: C to U Conversion", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72200", "resource": "Reactome", "description": "mRNA Editing: C to U Conversion" }, { "id": "R-HSA-75094", "name": "Formation of the Editosome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75094", "resource": "Reactome", "description": "Formation of the Editosome" } ], "orthologs": [ { "uniprot_canonical_ac": "P38483-1", "protein_name": "C->U-editing enzyme APOBEC-1", "gene_name": "Apobec1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSETGPVAVDPTLRRRIEPHEFEVFFDPRELRKETCLLYEINWGGRHSIWRHTSQNTNKHVEVNFIEKFTTERYFCPNTRCSITWFLSWSPCGECSRAITEFLSRYPHVTLFIYIARLYHHADPRNRQGLRDLISSGVTIQIMTEQESGYCWRNFVNYSPSNEAHWPRYPHLWVRLYVLELYCIILGLPPCLNILRRKQPQLTFFTIALQSCHYQRLPPHILWATGLK", "length": 229 }, "evidence": [ { "id": "45240372", "url": "http://www.informatics.jax.org/homology/45240372", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P51908-1", "protein_name": "C->U-editing enzyme APOBEC-1", "gene_name": "Apobec1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSSETGPVAVDPTLRRRIEPHEFEVFFDPRELRKETCLLYEINWGGRHSVWRHTSQNTSNHVEVNFLEKFTTERYFRPNTRCSITWFLSWSPCGECSRAITEFLSRHPYVTLFIYIARLYHHTDQRNRQGLRDLISSGVTIQIMTEQEYCYCWRNFVNYPPSNEAYWPRYPHLWVKLYVLELYCIILGLPPCLKILRRKQPQLTFFTITLQTCHYQRIPPHLLWATGLK", "length": 229 }, "evidence": [ { "id": "45240372", "url": "http://www.informatics.jax.org/homology/45240372", "database": "MGI" }, { "id": "P41238", "url": "https://omabrowser.org/oma/group/P41238/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "cytidine deaminase activity", "id": "GO:0004126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004126", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "catalytic activity, acting on RNA", "id": "GO:0140098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140098", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "apolipoprotein B mRNA editing enzyme complex", "id": "GO:0030895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030895", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "mRNA editing complex", "id": "GO:0045293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045293", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "mRNA modification", "id": "GO:0016556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016556", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "DNA demethylation", "id": "GO:0080111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080111", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "negative regulation of DNA methylation-dependent heterochromatin formation", "id": "GO:0090310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090310", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "establishment of localization in cell", "id": "GO:0051649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "positive regulation of DNA demethylation", "id": "GO:1901537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901537", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" }, { "name": "negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000623", "evidence": [ { "database": "UniProtKB", "id": "P41238", "url": "https://www.uniprot.org/uniprot/P41238" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 57, "end_pos": 59, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21772", "name": "", "equation": "cytidine(6666) in apoB mRNA + H(+) + H2O = NH4(+) + uridine(6666) in apoB mRNA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38483-1", "P41238-1", "Q9Y235-1", "P51908-1", "Q9WV35-1" ], "evidence": [ { "id": "21772", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21772" } ] }, { "id": "74355", "name": "", "equation": "a cytidine in mRNA + H(+) + H2O = a uridine in mRNA + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P38483-1", "P41238-1", "P51908-1" ], "evidence": [ { "id": "74355", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/74355" } ] }, { "id": "R-HSA-77609", "name": "Binding of APOBEC-1 to form editosome", "equation": "", "summary": "APOBEC-1 binds to ACF:stem-looped mRNA complex forming the editosome (Maris et al.2005).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P41238-1", "Q9Y235-1", "P31941-1", "Q9NRW3-1", "Q6NTF7-1", "Q9UH17-1", "Q8WW27-1" ], "evidence": [ { "id": "R-HSA-77609", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77609" } ] }, { "id": "R-HSA-83677", "name": "C4 deamination of cytidine", "equation": "", "summary": "Hydrolytic deamination of cytidine leads to uridine. Ammonia is presumed to be released during this reaction.
", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P41238-1", "Q9Y235-1", "P31941-1", "Q9NRW3-1", "Q6NTF7-1", "Q9UH17-1", "Q8WW27-1" ], "evidence": [ { "id": "R-HSA-83677", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83677" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P31941", "gene_name": "APOBEC3A", "activity": [ { "ec_number": "3.5.4.38", "activity": "a 2'-deoxycytidine in single-stranded DNA + H(+) + H2O = a 2'-deoxyuridine in single-stranded DNA + NH4(+).", "evidence": [ { "id": "P31941", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31941" } ] }, { "ec_number": "3.5.4.38", "activity": "", "evidence": [ { "id": "P31941", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31941" } ] } ] }, { "uniprot_ac": "P38483", "gene_name": "Apobec1", "activity": [ { "ec_number": "3.5.4.-", "activity": "", "evidence": [ { "id": "P38483", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38483" } ] }, { "ec_number": "3.5.4.36", "activity": "cytidine(6666) in apoB mRNA + H(+) + H2O = NH4(+) + uridine(6666) in apoB mRNA.", "evidence": [ { "id": "P38483", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38483" } ] } ] }, { "uniprot_ac": "P41238", "gene_name": "APOBEC1", "activity": [ { "ec_number": "3.5.4.-", "activity": "", "evidence": [ { "id": "P41238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41238" } ] }, { "ec_number": "3.5.4.36", "activity": "cytidine(6666) in apoB mRNA + H(+) + H2O = NH4(+) + uridine(6666) in apoB mRNA.", "evidence": [ { "id": "P41238", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41238" } ] } ] }, { "uniprot_ac": "P51908", "gene_name": "Apobec1", "activity": [ { "ec_number": "3.5.4.-", "activity": "", "evidence": [ { "id": "P51908", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51908" } ] }, { "ec_number": "3.5.4.36", "activity": "cytidine(6666) in apoB mRNA + H(+) + H2O = NH4(+) + uridine(6666) in apoB mRNA.", "evidence": [ { "id": "P51908", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51908" } ] } ] }, { "uniprot_ac": "Q6NTF7", "gene_name": "APOBEC3H", "activity": [ { "ec_number": "3.5.4.38", "activity": "a 2'-deoxycytidine in single-stranded DNA + H(+) + H2O = a 2'-deoxyuridine in single-stranded DNA + NH4(+).", "evidence": [ { "id": "Q6NTF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6NTF7" } ] }, { "ec_number": "3.5.4.38", "activity": "", "evidence": [ { "id": "Q6NTF7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6NTF7" } ] } ] }, { "uniprot_ac": "Q8WW27", "gene_name": "APOBEC4", "activity": [ { "ec_number": "3.5.4.-", "activity": "", "evidence": [ { "id": "Q8WW27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WW27" } ] } ] }, { "uniprot_ac": "Q9NRW3", "gene_name": "APOBEC3C", 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