{ "uniprot_canonical_ac": "A1L0T0-1", "uniprot_ac": "A1L0T0", "uniprot_id": "HACL2_HUMAN", "mass": { "chemical_mass": 67868.0, "monoisotopic_mass": 67868.0 }, "refseq": { "ac": "NP_006835", "name": "2-hydroxyacyl-CoA lyase 2", "summary": "The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835" }, "gene_names": [ { "name": "ILVBL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0" }, { "name": "209L8; AHAS; HACL1L; HACL2; ILV2H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "id": "NP_006835" }, { "name": "AHAS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0" }, { "name": "HACL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0" }, { "name": "ILVBL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "id": "NP_006835" } ], "protein_names": [ { "name": "2-hydroxyacyl-CoA lyase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A1L0T0" }, { "name": "2-hydroxyacyl-CoA lyase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "id": "NP_006835" }, { "name": "4.1.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1L0T0" }, { "name": "Acetolactate synthase-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1L0T0" }, { "name": "IlvB-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A1L0T0" }, { "name": "acetolactate synthase homolog; acetolactate synthase-like protein; ilvB-like protein; ilvB (bacterial acetolactate synthase)-like; 2-hydroxyacyl-CoA lyase 1 like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "id": "NP_006835" } ], "function": [ { "annotation": "Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway.", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0#function" }, { "database": "PubMed", "id": "28289220", "url": "https://glygen.org/publication/PubMed/28289220" } ] }, { "annotation": "The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835" } ] }, { "annotation": "To the best of our knowledge, this is the first report of an association between single nucleotide polymorphisms (SNPs) on ILVBL and aspirin-exacerbated respiratory disease (AERD) . SNPs on ILVBL could be promising genetic markers of this condition. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835" }, { "database": "PubMed", "id": "29246216", "url": "https://glygen.org/publication/PubMed/29246216" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A1L0T0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0" }, { "id": "rs1490637490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490637490" }, { "id": "rs1490637490", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490637490" }, { "id": "rs1490637490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1490637490#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 121, "end_pos": 121, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "19", "chr_pos": "15123219", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T121", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317879201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317879201" }, { "id": "rs1317879201", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317879201" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 330, "end_pos": 330, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "19", "chr_pos": "15119229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A1L0T0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 366, "end_pos": 366, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HSS->NSS).", "chr_id": "19", "chr_pos": "15117971", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H366", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A1L0T0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 48, "end_pos": 48, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "19", "chr_pos": "15123568", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K48", "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, 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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": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A1L0T0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L0T0" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L0T0" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "" 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"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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "common_name": "Human" } ], "gene": [ { "name": "ILVBL", "url": "https://www.uniprot.org/uniprot/A1L0T0", "locus": { "chromosome": "19", "start_pos": 15114984, "end_pos": 15125786, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105135", "url": "https://www.ensembl.org/id/ENSG00000105135" } ] } } ], "crossref": [ { "id": "ENSG00000105135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105135", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A1L0T0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd02004", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02004", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07035", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07035", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ILVBL", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILVBL", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10994", "url": "https://www.ncbi.nlm.nih.gov/gene/10994", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6041", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6041", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A1L0T0", "url": "https://www.ebi.ac.uk/intact/interactors/id:A1L0T0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "M0QZX5", "url": "https://www.ebi.ac.uk/intact/interactors/id:M0QZX5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000399", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000399", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012000", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012000", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012001", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012001", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029035", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045229", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045229", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10994", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10994", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605770", "url": "http://www.omim.org/entry/605770", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A1L0T0", "url": "https://www.nextprot.org/entry/NX_A1L0T0", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A1L0T0", "url": "https://oglcnac.org/atlas/detail/A1L0T0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A1L0T0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A1L0T0", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CFGTSGP", "url": "https://omabrowser.org/oma/group/CFGTSGP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1328249at2759", "url": "http://www.orthodb.org/?query=1328249at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR18968", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18968", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR18968:SF166", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18968:SF166", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00205", "url": "http://pfam.xfam.org/family/PF00205", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02775", "url": "http://pfam.xfam.org/family/PF02775", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02776", "url": "http://pfam.xfam.org/family/PF02776", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A1L0T0", "url": "https://pharos.nih.gov/targets/A1L0T0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A1L0T0", "url": "http://purl.obolibrary.org/obo/PR_A1L0T0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_006835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "55196", "url": "https://www.rhea-db.org/rhea/55196", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55212", "url": "https://www.rhea-db.org/rhea/55212", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1L0T0-1", "url": "https://www.uniprot.org/uniprot/A1L0T0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJS0", "url": "https://www.uniprot.org/uniprot/E9PJS0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJS0-1", "url": "https://www.uniprot.org/uniprot/E9PJS0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PL44", "url": "https://www.uniprot.org/uniprot/E9PL44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PL44-1", "url": "https://www.uniprot.org/uniprot/E9PL44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNL1", "url": "https://www.uniprot.org/uniprot/E9PNL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNL1-1", "url": "https://www.uniprot.org/uniprot/E9PNL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZX5", "url": "https://www.uniprot.org/uniprot/M0QZX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZX5-1", "url": "https://www.uniprot.org/uniprot/M0QZX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R026", "url": "https://www.uniprot.org/uniprot/M0R026", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R026-1", "url": "https://www.uniprot.org/uniprot/M0R026-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1B5", "url": "https://www.uniprot.org/uniprot/M0R1B5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1B5-1", "url": "https://www.uniprot.org/uniprot/M0R1B5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV", "length": 632, "header": "sp|A1L0T0-1|HACL2_HUMAN Isoform 1 of 2-hydroxyacyl-CoA lyase 2 OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=2 CANONICAL=A1L0T0-1" }, "isoforms": [ { "isoform_ac": "A1L0T0-1", "url": "", "sequence": { "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV", "length": 632, "header": "sp|A1L0T0-1|HACL2_HUMAN Isoform 1 of 2-hydroxyacyl-CoA lyase 2 OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=2 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15125059, "end_pos": 15115255, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263383.8", "url": "https://www.ensembl.org/id/ENST00000263383.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000263383.3", "url": "https://www.ensembl.org/id/ENSP00000263383.3" } ] } }, { "isoform_ac": "E9PJS0-1", "url": "", "sequence": { "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLP", "length": 262, "header": "tr|E9PJS0-1|HACL2_HUMAN Computationally mapped isoform of 2-hydroxyacyl-CoA lyase 2 OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15125059, "end_pos": 15120012, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527093.5", "url": "https://www.ensembl.org/id/ENST00000527093.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435516.1", "url": "https://www.ensembl.org/id/ENSP00000435516.1" } ] } }, { "isoform_ac": "E9PL44-1", "url": "", "sequence": { "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQL", "length": 166, "header": "tr|E9PL44-1|E9PL44_HUMAN Computationally mapped isoform of IlvB acetolactate synthase like OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15125059, "end_pos": 15122998, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533747.1", "url": "https://www.ensembl.org/id/ENST00000533747.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433355.1", "url": "https://www.ensembl.org/id/ENSP00000433355.1" } ] } }, { "isoform_ac": "E9PNL1-1", "url": "", "sequence": { "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKGRWAWRQ", "length": 52, "header": "tr|E9PNL1-1|E9PNL1_HUMAN Computationally mapped isoform of IlvB acetolactate synthase like OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15125059, "end_pos": 15123223, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533148.5", "url": "https://www.ensembl.org/id/ENST00000533148.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434734.1", "url": "https://www.ensembl.org/id/ENSP00000434734.1" } ] } }, { "isoform_ac": "M0QZX5-1", "url": "", "sequence": { "sequence": "MVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLN", "length": 229, "header": "tr|M0QZX5-1|M0QZX5_HUMAN Computationally mapped isoform of IlvB acetolactate synthase like OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=8 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15122757, "end_pos": 15116285, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598709.1", "url": "https://www.ensembl.org/id/ENST00000598709.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470834.1", "url": "https://www.ensembl.org/id/ENSP00000470834.1" } ] } }, { "isoform_ac": "M0R026-1", "url": "", "sequence": { "sequence": "MARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV", "length": 525, "header": "tr|M0R026-1|M0R026_HUMAN Computationally mapped isoform of 2-hydroxyacyl-CoA lyase 2 OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15123390, "end_pos": 15115255, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534378.5", "url": "https://www.ensembl.org/id/ENST00000534378.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470942.1", "url": "https://www.ensembl.org/id/ENSP00000470942.1" } ] } }, { "isoform_ac": "M0R1B5-1", "url": "", "sequence": { "sequence": "MARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQ", "length": 165, "header": "tr|M0R1B5-1|M0R1B5_HUMAN Computationally mapped isoform of IlvB acetolactate synthase like OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=8 CANONICAL=A1L0T0-1" }, "locus": { "chromosome": "19", "start_pos": 15123390, "end_pos": 15119982, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600984.5", "url": "https://www.ensembl.org/id/ENST00000600984.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000471762.1", "url": "https://www.ensembl.org/id/ENSP00000471762.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 121, "start_aa": "Thr", "end_pos": 121, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr121", "evidence": [ { "id": "A1L0T0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A1L0T0" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "A1L0T0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A1L0T0" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phytosphingosine degradation pathway includes fatty acid \u03b1-oxidation reactions in the endoplasmic reticulum.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017-03-28", "authors": "Kitamura Takuya, Seki Naoya, Kihara Akio", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "reference": [ { "type": "PubMed", "id": "28289220", "url": "https://glygen.org/publication/PubMed/28289220" } ] }, { "title": "Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.", "journal": "BMC pulmonary medicine", "date": "2017", "authors": "Chang HS, Park JS, Lee HS, Lyu J, Son JH, Choi IS, Shin HD, Park CS", "evidence": [ { "database": "RefSeq", "id": "NP_006835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835" } ], "reference": [ { "type": "PubMed", "id": "29246216", "url": "https://glygen.org/publication/PubMed/29246216" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "A1L0T0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A1L0T0" }, { "database": "O-GlcNAc Atlas", "id": "A1L0T0", "url": "https://oglcnac.org/atlas/detail/A1L0T0" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region.", "journal": "Genomics", "date": "1996", "authors": "Joutel A, Ducros A, Alamowitch S, Cruaud C, Domenga V, Mar\u00e9chal E, Vahedi K, Chabriat H, Bousser M G, Tournier-Lasserve E", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "reference": [ { "type": "PubMed", "id": "8954801", "url": "https://glygen.org/publication/PubMed/8954801" } ] } ], "pathway": [ { "id": "hsa:10994", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10994", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACG2-1", "protein_name": "2-hydroxyacyl-CoA lyase 2", "gene_name": "Ilvbl", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGAWPCDSMMLARGGLSAEVESCVEEGGFPVGSLINRFFLMETTAAAASAGGFFPSFLLLAFGTLVAAVLGAAHRLGLFYQLMHKVDKTSIRHGGESVAAVLRAHGVRFVFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAVARLTGTVGVAAVTAGPGLTNTVTAVKNAQVAQSPVLLLGGAASTLLQKRGALQAIDQMSLFRPLCKFCASVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPLDVLYPYFMVEKEMIPAQLPKGLMGRVVVWYLQNCLANLFAGAWEPRPEGPLPLDIPQASPQQVQRCVEILSRAKRPLLVLGSQALLPPTPANKLRAAVETLGVPCFLGGMSRGLLGRNHPLHIRQNRSAALKKADVVVLAGAVCDFRLSYGRVLNRKSSIIIVNRNRDDMLLNSDIFWKPQEAVQGDVGSFMIKLVEGLQGQTWSSDWVEELRKADQQKEQTYRDKALLPVPQHLNPVRLLQQVEETLPDNALLVVDGGDFVATAAYLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCQPEAEVWCLFGDGAFGYSLIEFDTFVRHKVPVIALVGNDAGWTQISREQVPRLGSDVACSLAYTDYHKAAMGLGAQGLILSRDNEDQVVKVLRDGQKLCQEGHAVVVNILIGRTDFRDGSISV", "length": 672 }, "evidence": [ { "id": "45924772", "url": "http://www.informatics.jax.org/homology/45924772", "database": "MGI" }, { "id": "A1L0T0", "url": "https://omabrowser.org/oma/group/A1L0T0/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BU33-1", "protein_name": "2-hydroxyacyl-CoA lyase 2", "gene_name": "Ilvbl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "METSAAAASAGGFFPSFLLLAFGTLVAAVLGVAHRLGLFYQLMHKVDKTSIRHGGESVAAVLRAHGVRFVFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAVARLTGTVGVAAVTAGPGLTNTVTAVKNAQVAQSPVLLLGGAASTLLQKRGALQAIDQMSLFRPLCKFCASVRRVRDIVPTLRTAIAAAQSGTPGPVFVELPLDVLYPYFMVEKEMIPTKLPNSLMGRVVVWYLQNCLANLFVGAWEPRPEGPLPLDIPQASPQQVQRCVEILSRAKRPLLVLGSQALLPPTPANKLRAAVETLGVPCFLGGMSRGLLGRNHPLHIRQNRSAALKKADVVVLAGAVCDFRLSYGRVLNRKSSIIIVNRNRDDLLLNSDIFWKPQEAVQGDVGSFMIKLVEGLQGQMWSSDWAEELRKADQQKEQTYRDKALMPVLQHLNPVWVLQQVEETLPDNALLVVDGGDFVATAAYLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCQPEAEVWCLFGDGAFGYSLIEFDTFVRHKVPVIALVGNDAGWTQISREQVPRLGSDVACSLAYTDYHKAAMGLGAQGLILSRDNKDQVVKVLREGQQLCQDGHAVVVNILIGRTDFRDGSISV", "length": 632 }, "evidence": [ { "id": "45924772", "url": "http://www.informatics.jax.org/homology/45924772", "database": "MGI" }, { "id": "A1L0T0", "url": "https://omabrowser.org/oma/group/A1L0T0/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "acetolactate synthase complex", "id": "GO:0005948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005948", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "thiamine pyrophosphate binding", "id": "GO:0030976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "acetolactate synthase activity", "id": "GO:0003984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003984", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "fatty acid alpha-oxidation", "id": "GO:0001561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001561", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "valine biosynthetic process", "id": "GO:0009099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009099", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" }, { "name": "isoleucine biosynthetic process", "id": "GO:0009097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009097", "evidence": [ { "database": "UniProtKB", "id": "A1L0T0", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 336, "end_pos": 338, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "55196", "name": "", "equation": "2-hydroxyoctadecanoyl-CoA = formyl-CoA + heptadecanal", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8CHM7-1", "A1L0T0-1", "Q9UJ83-1", "Q9QXE0-1", "Q8BU33-1", "Q54DA9-1", "Q7K3B7-1" ], "evidence": [ { "id": "55196", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55196" } ] }, { "id": "55212", "name": "", "equation": "(2R)-hydroxyhexadecanoyl-CoA = formyl-CoA + pentadecanal", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A1L0T0-1", "Q8BU33-1" ], "evidence": [ { "id": "55212", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55212" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A1L0T0", "gene_name": "ILVBL", "activity": [ { "ec_number": "4.1.2.-", "activity": "", "evidence": [ { "id": "A1L0T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1L0T0" } ] } ] }, { "uniprot_ac": "Q54DA9", "gene_name": "hacl1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q54DA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DA9" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q54DA9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54DA9" } ] } ] }, { "uniprot_ac": "Q7K3B7", "gene_name": "Hacl", "activity": [ { "ec_number": "4.1.-.-", "activity": "", "evidence": [ { "id": "Q7K3B7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7K3B7" } ] } ] }, { "uniprot_ac": "Q8BU33", "gene_name": "Ilvbl", "activity": [ { "ec_number": "4.1.2.-", "activity": "", "evidence": [ { "id": "Q8BU33", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BU33" } ] } ] }, { "uniprot_ac": "Q8CHM7", "gene_name": "Hacl1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q8CHM7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CHM7" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q8CHM7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CHM7" } ] } ] }, { "uniprot_ac": "Q9QXE0", "gene_name": "Hacl1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q9QXE0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXE0" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q9QXE0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXE0" } ] } ] }, { "uniprot_ac": "Q9UJ83", "gene_name": "HACL1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] } ] } ], "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": [], "o_linked_sites": [ 121 ], "snv_sites": [ 48, 121, 330, 366, 530, 549, 627 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 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