{ "uniprot_canonical_ac": "O43681-1", "uniprot_ac": "O43681", "uniprot_id": "GET3_HUMAN", "mass": { "chemical_mass": 38793.0, "monoisotopic_mass": 38793.0 }, "refseq": { "ac": "NP_004308", "name": "ATPase GET3", "summary": "This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308" }, "gene_names": [ { "name": "GET3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43681", "id": "O43681" }, { "name": "ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; TRC40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "id": "NP_004308" }, { "name": "ARSA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43681", "id": "O43681" }, { "name": "ASNA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43681", "id": "O43681" }, { "name": "GET3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "id": "NP_004308" }, { "name": "TRC40", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43681", "id": "O43681" } ], "protein_names": [ { "name": "ATPase GET3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43681" }, { "name": "3.6.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "ATPase GET3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "id": "NP_004308" }, { "name": "Arsenical pump-driving ATPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "Arsenite-stimulated ATPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "Guided entry of tail-anchored proteins factor 3, ATPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "Transmembrane domain recognition complex 40 kDa ATPase subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "golgi to ER traffic 3 homolog; transmembrane domain recognition complex 40 kDa ATPase subunit; arsA arsenite transporter, ATP-binding, homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "id": "NP_004308" }, { "name": "hARSA-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" }, { "name": "hASNA-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43681" } ], "function": [ { "annotation": "ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors GET1/WRB and CAMLG/GET2, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the GET1-CAMLG receptor, and returning it to the cytosol to initiate a new round of targeting. May be involved in insulin signaling.", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681#function" }, { "database": "PubMed", "id": "18477612", "url": "https://glygen.org/publication/PubMed/18477612" }, { "database": "UniProtKB", "id": "MF_03112", "url": "https://www.uniprot.org/uniprot/MF_03112#function" }, { "database": "PubMed", "id": "17382883", "url": "https://glygen.org/publication/PubMed/17382883" }, { "database": "PubMed", "id": "23041287", "url": "https://glygen.org/publication/PubMed/23041287" }, { "database": "PubMed", "id": "25535373", "url": "https://glygen.org/publication/PubMed/25535373" }, { "database": "PubMed", "id": "31461301", "url": "https://glygen.org/publication/PubMed/31461301" } ] }, { "annotation": "Golgi-resident tail-anchored proteins such as the golgins golgin-84, CASP and giantin as well as the vesicle-associated membrane-protein-associated proteins VAPA and VAPB interact with TRC40. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308" }, { "database": "PubMed", "id": "31182645", "url": "https://glygen.org/publication/PubMed/31182645" } ] }, { "annotation": "Human ASNA1 is highly expressed in pancreatic beta cells, but not in other pancreatic endocrine cell types, and regulates insulin secretion in cultured cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308" }, { "database": "PubMed", "id": "17289575", "url": "https://glygen.org/publication/PubMed/17289575" } ] }, { "annotation": "Mutation in ASNA1 cause severe pediatric cardiomyopathy and early death. Erratum:[Circ Genom Precis Med. 2020 Jun;13(3):e000065. PMID: 32543991]", "evidence": [ { "database": "RefSeq", "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308" }, { "database": "PubMed", "id": "31461301", "url": "https://glygen.org/publication/PubMed/31461301" } ] }, { "annotation": "This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308" } ] } ], "disease": [ { "disease_id": "MONDO:0859358", "recommended_name": { "id": "MONDO:0859358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859358", "name": "cardiomyopathy, dilated, 2H", "description": "" }, "synonyms": [ { "id": "MIM:620203", "resource": "MIM", "url": "https://www.omim.org/entry/620203", "name": "Cardiomyopathy, dilated, 2H", "description": "Cardiomyopathy, dilated, 2H" } ], "evidence": [ { "id": "620203", "database": "MIM", "url": "https://www.omim.org/entry/620203" } ] } ], "snv": [ { "evidence": [ { "id": "O43681", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43681" } ], "glycoeffect": [], "start_pos": 75, "end_pos": 75, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: DB annot. (1).", "chr_id": "19", "chr_pos": "12738573", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P75", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "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", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "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", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 46, "end_pos": 46, "sequence_org": "G", "sequence_mut": "R", "comment": "Abolishes ATPase activity, dominantly inhibits the TA protein insertion pathway.", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" }, { "database": "PubMed", "id": "17382883", "url": "https://glygen.org/publication/PubMed/17382883" } ] }, { "start_pos": 86, "end_pos": 86, "sequence_org": "K", "sequence_mut": "D", "comment": "Reduces TA protein insertion pathway.", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": 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"http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198356", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198356" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198356", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198356" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198356", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198356" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.62", "present": "HIGH", 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}, { "id": "O43681", "url": "https://pharos.nih.gov/targets/O43681", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43681", "url": "http://purl.obolibrary.org/obo/PR_O43681", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43681-1", "url": "https://www.uniprot.org/uniprot/O43681-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKVPTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKIDTHNIIVNQLVFPDPEKPCKMCEARHKIQAKYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTFSALLLEPYKPPSAQ", "length": 348, "header": "sp|O43681-1|GET3_HUMAN Isoform 1 of ATPase GET3 OS=Homo sapiens OX=9606 GN=GET3 PE=1 SV=2 CANONICAL=O43681-1" }, "isoforms": [ { "isoform_ac": "O43681-1", "url": "", "sequence": { "sequence": "MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKVPTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKIDTHNIIVNQLVFPDPEKPCKMCEARHKIQAKYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTFSALLLEPYKPPSAQ", "length": 348, "header": "sp|O43681-1|GET3_HUMAN Isoform 1 of ATPase GET3 OS=Homo sapiens OX=9606 GN=GET3 PE=1 SV=2 CANONICAL=O43681-1" }, "locus": { "chromosome": "19", "start_pos": 12748101, "end_pos": 12737506, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591090.5", "url": "https://www.ensembl.org/id/ENST00000591090.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466379.1", "url": "https://www.ensembl.org/id/ENSP00000466379.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43681", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43681" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "33214551", "database": 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"MDLTVEPNLHSLITSTTHKWIFVGGKGGVGKTTSSCSIAIQMALSQPNKQFLLISTDPAHNLSDAFGEKFGKDARKVTGMNNLSCMEIDPSAALKDMNDMAVSRANNNGSDGQGDDLGSLLQGGALADLTGSIPGIDEALSFMEVMKHIKRQEQGEGETFDTVIFDTAPTGHTLRFLQLPNTLSKLLEKFGEITNKLGPMLNSFMGAGNVDISGKLNELKANVETIRQQFTDPDLTTFVCVCISEFLSLYETERLIQELISYDMDVNSIIVNQLLFAENDQEHNCKRCQARWKMQKKYLDQIDELYEDFHVVKMPLCAGEIRGLNNLTKFSQFLNKEYNPITDGKVIYELEDKE", "length": 354 }, "evidence": [ { "id": "O43681", "url": "https://omabrowser.org/oma/group/O43681/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q7JWD3-1", "protein_name": "ATPase ASNA1 homolog", "gene_name": "", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MADNLEPLEPSLQNLVEQDSLKWIFVGGKGGVGKTTCSSSLAVQLSKVRESVLIISTDPAHNISDAFDQKFTKVPTKVNGFDNLFAMEIDPNAGLNELPEEYFDGENEALRVSKGVMQEMINALPGIDEAMSYAEVMKLVKGMNFSVVVFDTAPTGHTLRLIAFPQVVEKGLGKLLRLKMKVAPLLSQFVSMLGMADVNADTLSQKLDDMLRVITQVNEQFKNPDQTTFVCVCIAEFFSLYETERLVQELTKCGIDVHNIIVNQLLFLQNSHDSCSMCASRFKIQEKYLDQIADLYEDFHVTKLPLLEKEVRGPESIRSFSENLMKPYNPKGEPKE", "length": 336 }, "evidence": [ { "id": "O43681", "url": "https://omabrowser.org/oma/group/O43681/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "post-translational protein targeting to endoplasmic reticulum membrane", "id": "GO:0006620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006620", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "protein insertion into ER membrane", "id": "GO:0045048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045048", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "tail-anchored membrane protein insertion into ER membrane", "id": "GO:0071816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071816", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "arsenite transmembrane transporter activity", "id": "GO:0015105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015105", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "membrane insertase activity", "id": "GO:0032977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032977", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" }, { "name": "GET complex", "id": "GO:0043529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043529", "evidence": [ { "database": "UniProtKB", "id": "O43681", "url": "https://www.uniprot.org/uniprot/O43681" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 78, "end_pos": 80, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-9609860", "name": "Tail-anchored protein:SGTA:BAG6:GET4:UBL4A:ASNA1:ATP dissociates and ASNA1 hydrolyzes ATP yielding Tail-anchored protein:ASNA1:ADP", "equation": "", "summary": "A properly folded tail-anchored (TA) protein is transferred from SGTA to ASNA1 via the BAG6 complex (BAG6:UBL4A:GET4 also known at BAT3:GET5:TRC35) (Marriapan et al. 2010, Leznicki et al. 2011, Mock et al. 2015, Shao et al. 2017, Guna et al. 2018). The TA protein bound to ASNA1 is then presumed to dissociate from the BAG6 complex (inferred from yeast homologs). At some point during or shortly after dissociation, ASNA1 hydrolyzes bound ATP to yield ADP (inferred from yeast homologs).
Improperly folded proteins and improperly localized hydrophobic proteins are transferred from SGTA to BAG6 rather than to ASNA1 (Shao et al. 2017). BAG6 then recruits RNF126 and facilitates the ubiquitination and consequent degradation of the defective protein. The selection of transferring a substrate protein from SGTA to ASNA1 or to BAG6 thereby acts as a \\molecular triage\\. Proteins with less hydrophobic tail-anchors appear to be inserted into the endoplasmic reticulum membrane by a separate system comprising calmodulin and the ER membrane protein complex (Guna et al. 2018).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09601-1", "O43681-1" ], "evidence": [ { "id": "R-HSA-9609860", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609860" } ] }, { "id": "R-HSA-9609899", "name": "Tail-anchored protein:ASNA1:ADP binds WRB:CAMLG at the endoplasmic reticulum membrane", "equation": "", "summary": "A tail-anchored protein bound to ASNA1 dimer (TRC40 dimer) in the cytosol (Stefanovic and Hegde 2007, Favaloro et al. 2008, Favaloro et al. 2010) docks at the WRB:CAMLG complex located in the endoplasmic reticulum membrane (Vilardi et al. 2011, Yamamoto and Sakisaka 2012, Vilardi et al. 2014, Colombo et al. 2016, Pfaff et al. 2016, Vogl et al. 2016). The cytoplasmic coiled coil domain of WRB and the cytoplasmic N-terminal domain of CAMLG compete for binding to ASNA1 (Vilardi et al. 2011, Yamamoto and Sakisaka 2012). As inferred from yeast homologs, ASNA1 hydrolyzes bound ATP at some point, resulting in a change of conformation of ASNA1. This may transfer the tail-anchored protein to WRB:CAMLG, which functions as an insertase.", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09601-1", "O43681-1" ], "evidence": [ { "id": "R-HSA-9609899", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609899" } ] }, { "id": "R-HSA-9609917", "name": "Tail-anchored protein:ASNA1:ADP:WRB:CAMLG dissociates yielding Tail-anchored protein in the endoplasmic reticulum membrane", "equation": "", "summary": "A tail-anchored protein bound to ASNA1 (TRC40) (Stefanovic and Hegde 2007, Favaloro et al. 2008, Favaloro et al. 2010) docked at the WRB:CAMLG complex (also known as the WRB:CAML complex) located in the endoplasmic reticulum membrane is released into the ER membrane in an incompletely characterized reaction (Vilardi et al. 2011, Yamamoto and Sakisaka 2012, Vilardi et al. 2014, Colombo et al. 2016, Pfaff et al. 2016, Vogl et al. 2016). Experiments with yeast homologs (GET1 is the homologue of WRB and GET2 is the homologue of CAMLG) indicate that docking of ASNA1:ADP with WRB:CAMLG results in a conformational change in ASNA1 that causes release of the tail-anchored protein to WRB:CAMLG and then into the membrane (inferred from yeast homologs), ADP dissociates from ASNA1 at some point during the reaction. Exchange of ADP for ATP by ASNA1 then recycles ASNA1 back into the cytosol (inferred from yeast homologs).", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [ "R-HSA-9609912" ], "output_participant_list": [], "enzyme_list": [ "P09601-1", "O43681-1" ], "evidence": [ { "id": "R-HSA-9609917", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609917" } ] }, { "id": "R-HSA-9610442", "name": "Tail-anchored protein:SGTA dimer binds BAG6:GET4:UBL4A and ASNA1:ATP", "equation": "", "summary": "A SGTA dimer bound to a tail-anchored (TA) protein binds the BAG6 complex (BAG6:GET4:UBL4A) via UBL4A (Winnefeld et al. 2006, Chartron et al. 2012, Xu et al. 2012, Leznicki et al. 2013, Darby et al. 2014, Kuwabara et al. 2015, Mock et al. 2015, Shao et al. 2017, also inferred from rabbit homologs in Mariappan et al. 2010). At some point, ASNA1 (TRC40) also binds the complex (Shao et al. 2017). SGTA interacts with the ubiquitin-like domain (UBL) of BAG6 and the UBL of UBL4A competes with BAG6 for binding to SGTA (Chartron et al. 2012, Xu et al. 2012, Leznicki et al. 2013, Darby et al. 2014, Shao et al. 2017).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09601-1", "O43681-1" ], "evidence": [ { "id": "R-HSA-9610442", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9610442" } ] }, { "id": "R-HSA-9617596", "name": "BAG6:GET4:UBL4A binds mislocalized membrane protein:SGTA and ASNA1:ATP", "equation": "", "summary": "SGTA is believed to initially bind exposed hydrophobic regions of proteins (client proteins) in the cytosol and then associate with the BAG6 complex (BAG6:GET4:UBL4A) and ASNA1 (Mariappan et al. 2010, Hessa et al. 2011, Leznicki et al. 2012, Wunderly et al. 2014, Shao et al. 2017). If the client protein is not efficiently transferred to ASNA1 then the client protein is transferred to BAG6 (Shao et al. 2017), which has been demonstrated to bind hydrophobic regions of proteins and appears to prevent their aggregation prior to proteasomal degradation (Wang et al. 2011). The efficiency of transfer of a client protein to ASNA1 appears to be determined by the sequence of the hydrophobic domain (Hessa et al. 2011). SGTA is not a stable component of the BAG6 complex (Marriapan et al. 2010) and SGTA and RNF126 compete for the same binding site on BAG6 (Krysztofinska et al. 2016).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43681-1" ], "evidence": [ { "id": "R-HSA-9617596", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617596" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-9609912", "participant_name": "Tail-anchored protein:ASNA1:ADP:WRB:CAMLG [endoplasmic reticulum membrane]", "crossref": [ { "id": "CPX-6464", "database": "ComplexPortal", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43681", "gene_name": "GET3", "activity": [ { "ec_number": "3.6.-.-", "activity": "", "evidence": [ { "id": "O43681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43681" } ] } ] }, { "uniprot_ac": "P09601", "gene_name": "HMOX1", "activity": [ { "ec_number": "1.14.14.18", "activity": "heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P09601", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09601" } ] }, { "ec_number": "1.14.14.18", "activity": "", "evidence": [ { "id": "P09601", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09601" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 75 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 159, "end_pos": 161 }, { "start_pos": 78, "end_pos": 80 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 37 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }