{ "uniprot_canonical_ac": "B0YJ81-1", "uniprot_ac": "B0YJ81", "uniprot_id": "HACD1_HUMAN", "mass": { "chemical_mass": 32388.0, "monoisotopic_mass": 32388.0 }, "refseq": { "ac": "NP_055056", "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1", "summary": "The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, "gene_names": [ { "name": "HACD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/B0YJ81", "id": "B0YJ81" }, { "name": "CAP; CMYP11; MYONP; PTPLA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056", "id": "NP_055056" }, { "name": "HACD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056", "id": "NP_055056" }, { "name": "PTPLA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/B0YJ81", "id": "B0YJ81" } ], "protein_names": [ { "name": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "B0YJ81" }, { "name": "3-hydroxyacyl-CoA dehydratase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "4.2.1.134", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "CAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "Cementum-attachment protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "HACD1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "Protein-tyrosine phosphatase-like member A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "B0YJ81" }, { "name": "cementum attachment protein; very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1; protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056", "id": "NP_055056" }, { "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056", "id": "NP_055056" } ], "function": [ { "annotation": "A loss-of-function mutation in the canine ortholog of HACD1 that was identified by genetic mapping in a French pedigree of Labrador retrievers causes a congenital myopathy named centronuclear myopathy (CNM) in Labrador retrievers. Erratum:[Hum Mol Genet. 2005 Jul 1;14(13):1905-6]", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, { "database": "PubMed", "id": "15829503", "url": "https://glygen.org/publication/PubMed/15829503" } ] }, { "annotation": "Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, { "database": "PubMed", "id": "33354762", "url": "https://glygen.org/publication/PubMed/33354762" } ] }, { "annotation": "Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.", "evidence": [ { "database": "UniProtKB", "id": "J3KS69", "url": "https://www.uniprot.org/uniprot/J3KS69#function" }, { "database": "UniProtKB", "id": "RU363109", "url": "https://www.uniprot.org/uniprot/RU363109#function" }, { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81#function" }, { "database": "PubMed", "id": "18554506", "url": "https://glygen.org/publication/PubMed/18554506" } ] }, { "annotation": "In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81#function" }, { "database": "PubMed", "id": "22067203", "url": "https://glygen.org/publication/PubMed/22067203" } ] }, { "annotation": "Longitudinal analyses in myopathic Labrador retrievers reveal several membrane-associated defects, including ultrastructural triads dysmorphogenesis and mitochondrial mislocalization in Labrador retrievers with deficiencies in the canine HACD1 gene.", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, { "database": "PubMed", "id": "27939133", "url": "https://glygen.org/publication/PubMed/27939133" } ] }, { "annotation": "Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle.", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, { "database": "PubMed", "id": "28784662", "url": "https://glygen.org/publication/PubMed/28784662" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" }, { "database": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "annotation": "The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055056" } ] } ], "disease": [ { "disease_id": "MONDO:0859264", "recommended_name": { "id": "MONDO:0859264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859264", "name": "congenital myopathy 11", "description": "" }, "synonyms": [ { "id": "MIM:619967", "resource": "MIM", "url": "https://www.omim.org/entry/619967", "name": "Congenital myopathy 11", "description": "Congenital myopathy 11" } ], "evidence": [ { "id": "619967", "database": "MIM", "url": "https://www.omim.org/entry/619967" } ] } ], "snv": [ { "evidence": [ { "id": "rs1384292513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384292513" }, { "id": "rs1384292513", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384292513#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 12, "end_pos": 12, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "10", "chr_pos": "17617305", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "B0YJ81", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/B0YJ81" } ], "glycoeffect": [], "start_pos": 223, "end_pos": 223, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "17594322", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A223", "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": "" } ] }, { "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID: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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "B0YJ81", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/B0YJ81" } ], "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 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"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", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://www.ensembl.org/id/ENST00000466335.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000462336.1", "url": "https://www.ensembl.org/id/ENSP00000462336.1" } ] } }, { "isoform_ac": "J3KT94-1", "url": "", "sequence": { "sequence": "IVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIKPI", "length": 37, "header": "tr|J3KT94-1|HACD1_HUMAN Computationally mapped isoform of Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 OS=Homo sapiens OX=9606 GN=HACD1 PE=1 SV=1 CANONICAL=B0YJ81-1" }, "locus": { "chromosome": "10", "start_pos": 17603744, "end_pos": 17594381, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000498812.5", "url": "https://www.ensembl.org/id/ENST00000498812.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462868.1", "url": "https://www.ensembl.org/id/ENSP00000462868.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "B0YJ81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0YJ81#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "B0YJ81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B0YJ81" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser22" }, { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "B0YJ81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B0YJ81" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr25" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "B0YJ81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B0YJ81" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser30" }, { "start_pos": 32, "end_pos": 32, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "B0YJ81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B0YJ81" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr32" }, { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "B0YJ81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B0YJ81" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser33" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification and molecular characterization of acyl-CoA synthetase in human erythrocytes and erythroid precursors.", "journal": "The Biochemical journal", "date": "1999", "authors": "Malhotra KT, Malhotra K, Lubin BH, Kuypers FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75876" } ], "reference": [ { "type": "PubMed", "id": "10548543", "url": "https://glygen.org/publication/PubMed/10548543" } ] }, { "title": "Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene.", "journal": "Genomics", "date": "1999", "authors": "Uwanogho DA, Hardcastle Z, Balogh P, Mirza G, Thornburg KL, Ragoussis J, Sharpe PT", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81" } ], "reference": [ { "type": "PubMed", "id": "10644438", "url": "https://glygen.org/publication/PubMed/10644438" } ] }, { "title": "Very long-chain acyl-CoA synthetases. Human `bubblegum` represents a new family of proteins capable of activating very long-chain fatty acids.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Steinberg SJ, Morgenthaler J, Heinzer AK, Smith KD, Watkins PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75876" } ], "reference": [ { "type": "PubMed", "id": "10954726", "url": "https://glygen.org/publication/PubMed/10954726" } ] }, { "title": "Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD.", "journal": "Gene", "date": "2000", "authors": "Li D, Gonzalez O, Bachinski LL, Roberts R", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81" } ], "reference": [ { "type": "PubMed", "id": "11054553", "url": "https://glygen.org/publication/PubMed/11054553" } ] }, { "title": "FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.", "journal": "Nature genetics", "date": "2002", "authors": "Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75876" } ], "reference": [ { "type": "PubMed", "id": "11889465", "url": "https://glygen.org/publication/PubMed/11889465" } ] }, { "title": "Identification and expression of mammalian long-chain PUFA elongation enzymes.", "journal": "Lipids", "date": "2002", "authors": "Leonard AE, Kelder B, Bobik EG, Chuang LT, Lewis CJ, Kopchick JJ, Mukerji P, Huang YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75876" } ], "reference": [ { "type": "PubMed", "id": "12371743", "url": "https://glygen.org/publication/PubMed/12371743" } ] }, { "title": "Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Moon YA, Horton JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75876" } ], "reference": [ { "type": "PubMed", "id": "12482854", "url": "https://glygen.org/publication/PubMed/12482854" } ] }, { "title": "A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G", "evidence": [ { "database": "Reactome", "id": "R-HSA-75876", "url": 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"https://www.uniprot.org/uniprot/B0YJ81" } ], "pmid": "" }, { "name": "3-hydroxyacyl-CoA dehydratase activity", "id": "GO:0018812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018812", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 243, "end_pos": 245, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "B0YJ81", "url": "https://www.uniprot.org/uniprot/B0YJ81" }, { "database": "PubMed", "id": "23933735", "url": "https://glygen.org/publication/PubMed/23933735" } ] } ], "interactions": [], "reactions": [ { "id": "39155", "name": "", "equation": "(3R)-hydroxyoctadecanoyl-CoA = (2E)-octadecenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0YJ81-1", "Q6Y1H2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1" ], "evidence": [ { "id": "39155", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39155" } ] }, { "id": "39159", "name": "", "equation": "(3R)-hydroxyhexadecanoyl-CoA = (2E)-hexadecenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97852-1", "A0A8I6AU59-1", "D4ABI7-1", "A0A8I5ZQB2-1", "D3ZHG0-1", "Q9P035-1", "B0YJ81-1", "Q6Y1H2-1", "P51659-1", "Q5VWC8-1", "A2AKM2-1", "Q9QY80-1", "Q8K2C9-1", "Q9D3B1-1", "P51660-1", "P40857-1" ], "evidence": [ { "id": "39159", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39159" } ] }, { "id": "39175", "name": "", "equation": "(3R)-hydroxyeicosanoyl-CoA = (2E)-eicosenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0YJ81-1", "Q6Y1H2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1" ], "evidence": [ { "id": "39175", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39175" } ] }, { "id": "39187", "name": "", "equation": "(3R)-hydroxydocosanoyl-CoA = (2E)-docosenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0YJ81-1", "Q6Y1H2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1" ], "evidence": [ { "id": "39187", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39187" } ] }, { "id": "39199", "name": "", "equation": "(3R)-hydroxytetracosanoyl-CoA = (2E)-tetracosenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0YJ81-1", "Q6Y1H2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1" ], "evidence": [ { "id": "39199", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39199" } ] }, { "id": "39211", "name": "", "equation": "(3R)-hydroxyhexacosanoyl-CoA = (2E)-hexacosenoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B0YJ81-1", "Q6Y1H2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1" ], "evidence": [ { "id": "39211", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39211" } ] }, { "id": "45812", "name": "", "equation": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A8I6AU59-1", "D4ABI7-1", "A0A8I5ZQB2-1", "D3ZHG0-1", "Q5VWC8-1", "B0YJ81-1", "Q6Y1H2-1", "Q9P035-1", "Q8K2C9-1", "A2AKM2-1", "Q9D3B1-1", "Q9QY80-1", "P40857-1", "Q54YR9-1", "Q9VJX8-1", "Q9VKD2-1" ], "evidence": [ { "id": "45812", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45812" } ] }, { "id": "R-HSA-5676637", "name": "PTPLs dehydrate VLC3HA-CoA to VLCTDA-CoA", "equation": "", "summary": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratases 1-4 (PTPLA, B, D1 and D2 respectively, aka HACD1-4) mediate the dehydration step in VLCFA synthesis. A very-long-chain (3R)-3-hydroxyacyl-CoA (VLC3HA-CoA) is dehydrated to a very-long-chain 2,3-trans-enoyl CoA (2,3-TE-CoA) (Ikeda et al. 2008).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-5676631" ], "output_participant_list": [ "R-ALL-5676634" ], "enzyme_list": [ "Q6Y1H2-1", "B0YJ81-1", "Q5VWC8-1", "Q9P035-1" ], "evidence": [ { "id": "R-HSA-5676637", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676637" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5676631", "participant_name": "VLC3HA-CoA [cytosol]", "crossref": [ { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "C01086", "database": "COMPOUND", "url": "" }, { "id": "15456", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-5676634", "participant_name": "2,3-TE-CoA [cytosol]", "crossref": [ { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" }, { "id": "50998", "database": "ChEBI", "url": "" }, { "id": "C02609", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A8I5ZQB2", "gene_name": "Hacd1", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "A0A8I5ZQB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQB2" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "A0A8I5ZQB2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQB2" } ] } ] }, { "uniprot_ac": "A0A8I6AU59", "gene_name": "Hacd4", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "A0A8I6AU59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AU59" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "A0A8I6AU59", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AU59" } ] } ] }, { "uniprot_ac": "A2AKM2", "gene_name": "Hacd4", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "A2AKM2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AKM2" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "A2AKM2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2AKM2" } ] } ] }, { "uniprot_ac": "B0YJ81", "gene_name": "HACD1", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "B0YJ81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0YJ81" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "B0YJ81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0YJ81" } ] } ] }, { "uniprot_ac": "D3ZHG0", "gene_name": "Hacd2", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "D3ZHG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHG0" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "D3ZHG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHG0" } ] } ] }, { "uniprot_ac": "D4ABI7", "gene_name": "Hacd3", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "D4ABI7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ABI7" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "D4ABI7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4ABI7" } ] } ] }, { "uniprot_ac": "P40857", "gene_name": "PHS1", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "P40857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40857" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "P40857", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40857" } ] } ] }, { "uniprot_ac": "P51659", "gene_name": "HSD17B4", "activity": [ { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "P51659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51659" } ] }, { "ec_number": "4.2.1.107", "activity": "(24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-en-26-oyl-CoA + H2O.", "evidence": [ { "id": "P51659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51659" } ] }, { "ec_number": "4.2.1.119", "activity": "a (3R)-3-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "P51659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51659" } ] } ] }, { "uniprot_ac": "P51660", "gene_name": "Hsd17b4", "activity": [ { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "P51660", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51660" } ] }, { "ec_number": "4.2.1.107", "activity": "(24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-en-26-oyl-CoA + H2O.", "evidence": [ { "id": "P51660", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51660" } ] }, { "ec_number": "4.2.1.119", "activity": "a (3R)-3-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "P51660", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51660" } ] } ] }, { "uniprot_ac": "P97852", "gene_name": "Hsd17b4", "activity": [ { "ec_number": "1.1.1.n12", "activity": "a (3R)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "P97852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97852" } ] }, { "ec_number": "4.2.1.107", "activity": "(24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-en-26-oyl-CoA + H2O.", "evidence": [ { "id": "P97852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97852" } ] }, { "ec_number": "4.2.1.119", "activity": "a (3R)-3-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "P97852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97852" } ] } ] }, { "uniprot_ac": "Q54YR9", "gene_name": "", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q54YR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54YR9" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q54YR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54YR9" } ] } ] }, { "uniprot_ac": "Q5VWC8", "gene_name": "HACD4", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q5VWC8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VWC8" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q5VWC8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VWC8" } ] } ] }, { "uniprot_ac": "Q6Y1H2", "gene_name": "HACD2", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q6Y1H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6Y1H2" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q6Y1H2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6Y1H2" } ] } ] }, { "uniprot_ac": "Q8K2C9", "gene_name": "Hacd3", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q8K2C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K2C9" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q8K2C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K2C9" } ] } ] }, { "uniprot_ac": "Q9D3B1", "gene_name": "Hacd2", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q9D3B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D3B1" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q9D3B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D3B1" } ] } ] }, { "uniprot_ac": "Q9P035", "gene_name": "HACD3", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q9P035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P035" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q9P035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P035" } ] } ] }, { "uniprot_ac": "Q9QY80", "gene_name": "Hacd1", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q9QY80", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QY80" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q9QY80", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QY80" } ] } ] }, { "uniprot_ac": "Q9VJX8", "gene_name": "Hacd2", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q9VJX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VJX8" } ] }, { "ec_number": "4.2.1.134", "activity": "", "evidence": [ { "id": "Q9VJX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VJX8" } ] } ] }, { "uniprot_ac": "Q9VKD2", "gene_name": "Hacd1", "activity": [ { "ec_number": "4.2.1.134", "activity": "a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O.", "evidence": [ { "id": "Q9VKD2", "database": "UniProtKB", "url": 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