{ "uniprot_canonical_ac": "P00709-1", "uniprot_ac": "P00709", "uniprot_id": "LALBA_HUMAN", "mass": { "chemical_mass": 16225.0, "monoisotopic_mass": 16225.0 }, "refseq": { "ac": "NP_002280", "name": "alpha-lactalbumin precursor", "summary": "This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" }, "gene_names": [ { "name": "LALBA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00709", "id": "P00709" }, { "name": "HAMLET; LYZG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "id": "NP_002280" }, { "name": "LALBA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "id": "NP_002280" }, { "name": "LYZL7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00709", "id": "P00709" } ], "protein_names": [ { "name": "Alpha-lactalbumin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00709" }, { "name": "Lactose synthase B protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00709" }, { "name": "Lysozyme-like protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00709" }, { "name": "alpha-lactalbumin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "id": "NP_002280" }, { "name": "lactose synthase B protein; alpha-lactalbumin; lysozyme-like protein 7; lysozyme G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "id": "NP_002280" } ], "function": [ { "annotation": "Analysis of macromolecular crowding on the structural stability of human alpha-lactalbumin", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" }, { "database": "PubMed", "id": "22735492", "url": "https://glygen.org/publication/PubMed/22735492" } ] }, { "annotation": "High molecular mass complexes are formed with alpha-lactalbumin and alphaB-crystallin, preventing the amorphous aggregation of alpha-lactalbumin.", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" }, { "database": "PubMed", "id": "23005341", "url": "https://glygen.org/publication/PubMed/23005341" } ] }, { "annotation": "Human alpha-lactalbumin and human lactoferrin complexes appeared to interact with the chromatin of isolated nuclei affecting chromatin structural organization", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" }, { "database": "PubMed", "id": "31582209", "url": "https://glygen.org/publication/PubMed/31582209" } ] }, { "annotation": "Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.", "evidence": [ { "database": "UniProtKB", "id": "F8VWU1", "url": "https://www.uniprot.org/uniprot/F8VWU1#function" }, { "database": "UniProtKB", "id": "ARBA00002592", "url": "https://www.uniprot.org/uniprot/ARBA00002592#function" }, { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709#function" } ] }, { "annotation": "Studies indicate that alpha-lactalbumin has two domains, a large alpha-helical domain and a small beta-sheet domain connected by a calcium binding loop. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" }, { "database": "PubMed", "id": "27238572", "url": "https://glygen.org/publication/PubMed/27238572" } ] }, { "annotation": "This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1450733473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450733473" }, { "id": "rs1450733473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450733473" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 46, "end_pos": 46, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ICT->NCT).", "chr_id": "12", "chr_pos": "48569237", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781081623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781081623" }, { "id": "rs781081623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781081623" }, { "id": "rs781081623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781081623" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->DES).", "chr_id": "12", "chr_pos": "48569184", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P00709", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00709" }, { "id": "rs138577105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138577105" }, { "id": "rs138577105", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138577105" }, { "id": "rs138577105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138577105#frequency_tab" }, { "id": "rs138577105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138577105" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NES->NEN).", "chr_id": "12", "chr_pos": "48569177", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S66", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "39.53", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "37.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "25.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "26.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "19.78", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "53.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "disease": [ { "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00709" } ], "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": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "common_name": "Human" } ], "gene": [ { "name": "LALBA", "url": "https://www.uniprot.org/uniprot/P00709", "locus": { "chromosome": "12", "start_pos": 48567684, "end_pos": 48570066, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000167531", "url": "https://www.ensembl.org/id/ENSG00000167531" } ] } } ], "crossref": [ { "id": "ENSG00000167531", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167531", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P00709", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00709", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd16898", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16898", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "LALBA", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LALBA", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3906", "url": "https://www.ncbi.nlm.nih.gov/gene/3906", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6480", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6480", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000545", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000545", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001916", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001916", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019799", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019799", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023346", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023346", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3906", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3906", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "149750", "url": "http://www.omim.org/entry/149750", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P00709", "url": "https://www.nextprot.org/entry/NX_P00709", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KCELSQV", "url": "https://omabrowser.org/oma/group/KCELSQV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5344399at2759", "url": "http://www.orthodb.org/?query=5344399at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11407", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11407", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11407:SF32", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11407:SF32", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1A4V", "url": "https://www.rcsb.org/structure/1A4V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1B9O", "url": "https://www.rcsb.org/structure/1B9O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1CB3", "url": "https://www.rcsb.org/structure/1CB3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HML", "url": "https://www.rcsb.org/structure/1HML", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3B0I", "url": "https://www.rcsb.org/structure/3B0I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3B0O", "url": "https://www.rcsb.org/structure/3B0O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4L41", "url": "https://www.rcsb.org/structure/4L41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00062", "url": "http://pfam.xfam.org/family/PF00062", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P00709", "url": "https://pharos.nih.gov/targets/P00709", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P00709", "url": "http://purl.obolibrary.org/obo/PR_P00709", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8VWU1", "url": "https://www.uniprot.org/uniprot/F8VWU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VWU1-1", "url": "https://www.uniprot.org/uniprot/F8VWU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00709-1", "url": "https://www.uniprot.org/uniprot/P00709-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRFFVPLFLVGILFPAILAKQFTKCELSQLLKDIDGYGGIALPELICTMFHTSGYDTQAIVENNESTEYGLFQISNKLWCKSSQVPQSRNICDISCDKFLDDDITDDIMCAKKILDIKGIDYWLAHKALCTEKLEQWLCEKL", "length": 142, "header": "sp|P00709-1|LALBA_HUMAN Isoform 1 of Alpha-lactalbumin OS=Homo sapiens OX=9606 GN=LALBA PE=1 SV=1 CANONICAL=P00709-1" }, "isoforms": [ { "isoform_ac": "F8VWU1-1", "url": "", "sequence": { "sequence": "MRFFVPLFLVGILFPAILAKQFTKCELSQLLKDIDGYGGIALPELICTMFHTSGYDTQAIVENNESTEYGLFQISNKLWCKSSQVPQSRNICDISCDKFLDDDITDDIMCAKKILDIKGIDYW", "length": 123, "header": "tr|F8VWU1-1|LALBA_HUMAN Computationally mapped isoform of Alpha-lactalbumin OS=Homo sapiens OX=9606 GN=LALBA PE=1 SV=1 CANONICAL=P00709-1" }, "locus": { "chromosome": "12", "start_pos": 48570020, "end_pos": 48568516, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549817.1", "url": "https://www.ensembl.org/id/ENST00000549817.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000449780.1", "url": "https://www.ensembl.org/id/ENSP00000449780.1" } ] } }, { "isoform_ac": "P00709-1", "url": "", "sequence": { "sequence": "MRFFVPLFLVGILFPAILAKQFTKCELSQLLKDIDGYGGIALPELICTMFHTSGYDTQAIVENNESTEYGLFQISNKLWCKSSQVPQSRNICDISCDKFLDDDITDDIMCAKKILDIKGIDYWLAHKALCTEKLEQWLCEKL", "length": 142, "header": "sp|P00709-1|LALBA_HUMAN Isoform 1 of Alpha-lactalbumin OS=Homo sapiens OX=9606 GN=LALBA PE=1 SV=1 CANONICAL=P00709-1" }, "locus": { "chromosome": "12", "start_pos": 48570020, "end_pos": 48567960, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301046.6", "url": "https://www.ensembl.org/id/ENST00000301046.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000301046.2", "url": "https://www.ensembl.org/id/ENSP00000301046.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "P00709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00709#ptm_processing" }, { "id": "18780401", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18780401" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine; atypical; partial", "start_pos": 90, "start_aa": "Asn", "end_pos": 90, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn90", "evidence": [ { "id": "P00709", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00709#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Crystallographic evaluation of internal motion of human alpha-lactalbumin refined by full-matrix least-squares method.", "journal": "J. Mol. Biol.", "date": "1999", "authors": "Harata K, Abe Y, Muraki M", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "10080897", "url": "https://glygen.org/publication/PubMed/10080897" } ] }, { "title": "Golgi targeting of the GLUT1 glucose transporter in lactating mouse mammary gland.", "journal": "Pediatric research", "date": "2000", "authors": "Nemeth BA, Tsang SW, Geske RS, Haney PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890" } ], "reference": [ { "type": "PubMed", "id": "10759149", "url": "https://glygen.org/publication/PubMed/10759149" } ] }, { "title": "Crystal structure of lactose synthase reveals a large conformational change in its catalytic component, the beta1,4-galactosyltransferase-I.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Ramakrishnan B, Qasba PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890" } ], "reference": [ { "type": "PubMed", "id": "11419947", "url": "https://glygen.org/publication/PubMed/11419947" } ] }, { "title": "Purification of lactose synthetase a protein from human milk and demonstration of its interaction with alpha-lactalbumin.", "journal": "FEBS letters", "date": "1970", "authors": "Andrews P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890" } ], "reference": [ { "type": "PubMed", "id": "11947697", "url": "https://glygen.org/publication/PubMed/11947697" } ] }, { "title": "Identification of a new molecular form of human alpha-lactalbumin.", "journal": "J. Dairy Res.", "date": "1992", "authors": "Maynard F", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "1401360", "url": "https://glygen.org/publication/PubMed/1401360" } ] }, { "title": "Detection of a single nucleotide polymorphism in the human alpha-lactalbumin gene: implications for human milk proteins.", "journal": "J. Nutr. Biochem.", "date": "2005", "authors": "Chowanadisai Winyoo, Kelleher Shannon L, Nemeth Jennifer F, Yachetti Stephen, Kuhlman Charles F, Jackson Joan G, Davis Anne M, Lien Eric L, L\u00f6nnerdal Bo", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "15866226", "url": "https://glygen.org/publication/PubMed/15866226" } ] }, { "title": "Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry.", "journal": "Proteomics", "date": "2008", "authors": "Picariello G, Ferranti P, Mamone G, Roepstorff P, Addeo F", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709#ptm_processing" }, { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "18780401", "url": "https://glygen.org/publication/PubMed/18780401" } ] }, { "title": "Crystal structure of human alpha-lactalbumin at 1.7-A resolution.", "journal": "J. Mol. Biol.", "date": "1991", "authors": "Acharya K R, Ren J S, Stuart D I, Phillips D C, Fenna R E", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "1920433", "url": "https://glygen.org/publication/PubMed/1920433" } ] }, { "title": "Effects of macromolecular crowding on the structural stability of human alpha-lactalbumin.", "journal": "Acta biochimica et biophysica Sinica", "date": "2012", "authors": "Zhang DL, Wu LJ, Chen J, Liang Y", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" } ], "reference": [ { "type": "PubMed", "id": "22735492", "url": "https://glygen.org/publication/PubMed/22735492" } ] }, { "title": "The small heat-shock protein alphaB-crystallin uses different mechanisms of chaperone action to prevent the amorphous versus fibrillar aggregation of alpha-lactalbumin.", "journal": "The Biochemical journal", "date": "2012", "authors": "Kulig M, Ecroyd H", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" } ], "reference": [ { "type": "PubMed", "id": "23005341", "url": "https://glygen.org/publication/PubMed/23005341" } ] }, { "title": "Disorder in Milk Proteins: alpha-Lactalbumin. Part C. Peculiarities of Metal Binding.", "journal": "Current protein & peptide science", "date": "2016", "authors": "Permyakov EA, Permyakov SE, Breydo L, Redwan EM, Almehdar HA, Uversky VN", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" } ], "reference": [ { "type": "PubMed", "id": "27238572", "url": "https://glygen.org/publication/PubMed/27238572" } ] }, { "title": "Organization and sequence of the human alpha-lactalbumin gene.", "journal": "Biochem. J.", "date": "1987", "authors": "Hall L, Emery D C, Davies M S, Parker D, Craig R K", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "2954544", "url": "https://glygen.org/publication/PubMed/2954544" } ] }, { "title": "Effect of alpha-lactalbumin and lactoferrin oleic acid complexes on chromatin structural organization.", "journal": "Biochemical and biophysical research communications", "date": "2019", "authors": "Lebedev DV, Zabrodskaya YA, Pipich V, Kuklin AI, Ramsay E, Sokolov AV, Elizarova AY, Shaldzhyan AA, Grudinina NA, Pantina RA, Wu B, Shtam TA, Volnitskiy AV, Schmidt AE, Shvetsov AV, Vasilyev VB, Isaev-Ivanov VV, Egorov VV", "evidence": [ { "database": "RefSeq", "id": "NP_002280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002280" } ], "reference": [ { "type": "PubMed", "id": "31582209", "url": "https://glygen.org/publication/PubMed/31582209" } ] }, { "title": "The complete amino-acid sequence of human alpha-lactalbumin.", "journal": "Eur. J. Biochem.", "date": "1972", "authors": "Findlay JB, Brew K", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "5049057", "url": "https://glygen.org/publication/PubMed/5049057" } ] }, { "title": "Comparison of the nucleotide sequence of cloned human and guinea-pig pre-alpha-lactalbumin cDNA with that of chick pre-lysozyme cDNA suggests evolution from a common ancestral gene.", "journal": "Nucleic Acids Res.", "date": "1982", "authors": "Hall L, Craig RK, Edbrooke MR, Campbell PN", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "6285305", "url": "https://glygen.org/publication/PubMed/6285305" } ] }, { "title": "Lactose biosynthesis.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "1975", "authors": "Brew K, Hill RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890" } ], "reference": [ { "type": "PubMed", "id": "806951", "url": "https://glygen.org/publication/PubMed/806951" } ] }, { "title": "Alpha-lactalbumin possesses a distinct zinc binding site.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Ren J, Stuart D I, Acharya K R", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "8366079", "url": "https://glygen.org/publication/PubMed/8366079" } ] }, { "title": "Structural evidence for the presence of a secondary calcium binding site in human alpha-lactalbumin.", "journal": "Biochemistry", "date": "1998", "authors": "Chandra N, Brew K, Acharya K R", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "reference": [ { "type": "PubMed", "id": "9537992", "url": "https://glygen.org/publication/PubMed/9537992" } ] } ], "pathway": [ { "id": "hsa:3906", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3906", "resource": "KEGG Pathway" }, { "id": "R-HSA-5653890", "name": "Lactose synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890", "resource": "Reactome", "description": "Lactose synthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "P00714-1", "protein_name": "Alpha-lactalbumin", "gene_name": "Lalba", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMRFVPLFLACISLPAFQATEFTKCEVSHAIEDMDGYQGISLLEWTCVLFHTSGYDSQAIVKNNGSTEYGLFQISNRNWCKSSEFPESENICDISCDKFLDDELADDIVCAKKIVAIKGIDYWKAHKPMCSEKLEQWRCEKPGAPALVVPALNSETPVP", "length": 159 }, "evidence": [ { "id": "45934403", "url": "http://www.informatics.jax.org/homology/45934403", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P18137-1", "protein_name": "Alpha-lactalbumin", "gene_name": "LALBA", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MMSFVSLLVVGILFPAIQAKQFTKCELSQVLKDMDGYGDITLPEWICTIFHISGYDTKTIVHDNGSTEYGLFQINNKLWCRDNQIQSKNICGISCDKFLDDDLTDDMMCAKKILDNEGIDYWLAHKALCSEKLDQWLCEKM", "length": 141 }, "evidence": [ { "id": "P00709", "url": "https://omabrowser.org/oma/group/P00709/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P29752-1", "protein_name": "Alpha-lactalbumin", "gene_name": "Lalba", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMHFVPLFLVCILSLPAFQATELTKCKVSHAIKDIDGYQGISLLEWACVLFHTSGYDTQAVVNDNGSTEYGLFQISDRFWCKSSEFPESENICGISCDKLLDDELDDDIACAKKILAIKGIDYWKAYKPMCSEKLEQWRCEKP", "length": 143 }, "evidence": [ { "id": "45934403", "url": "http://www.informatics.jax.org/homology/45934403", "database": "MGI" }, { "id": "P00709", "url": "https://omabrowser.org/oma/group/P00709/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "lactose biosynthetic process", "id": "GO:0005989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005989", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "lysozyme activity", "id": "GO:0003796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003796", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" }, { "name": "lactose synthase activity", "id": "GO:0004461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004461", "evidence": [ { "database": "UniProtKB", "id": "P00709", "url": "https://www.uniprot.org/uniprot/P00709" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 64, 90 ], "o_linked_sites": [], "snv_sites": [ 46, 64, 66 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 64, "end_pos": 66 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }