{ "uniprot_canonical_ac": "O00400-1", "uniprot_ac": "O00400", "uniprot_id": "ACATN_HUMAN", "mass": { "chemical_mass": 60909.0, "monoisotopic_mass": 60909.0 }, "refseq": { "ac": "NP_001177921", "name": "acetyl-coenzyme A transporter 1 isoform 1", "summary": "The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921" }, "gene_names": [ { "name": "SLC33A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00400", "id": "O00400" }, { "name": "ACATN; AT-1; AT1; CCHLND; HPBDS; SPG42", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921", "id": "NP_001177921" }, { "name": "ACATN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00400", "id": "O00400" }, { "name": "AT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00400", "id": "O00400" }, { "name": "SLC33A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921", "id": "NP_001177921" } ], "protein_names": [ { "name": "Acetyl-coenzyme A transporter 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00400" }, { "name": "AT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00400" }, { "name": "Acetyl-CoA transporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00400" }, { "name": "Solute carrier family 33 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00400" }, { "name": "acetyl-coenzyme A transporter 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921", "id": "NP_001177921" }, { "name": "acetyl-coenzyme A transporter 1; solute carrier family 33 (acetyl-CoA transporter), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921", "id": "NP_001177921" } ], "function": [ { "annotation": "A missense mutation in SLC33A1 causes autosomal-dominant spastic paraplegia.", "evidence": [ { "database": "RefSeq", "id": "NP_001177921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921" }, { "database": "PubMed", "id": "19061983", "url": "https://glygen.org/publication/PubMed/19061983" } ] }, { "annotation": "Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921" }, { "database": "PubMed", "id": "33479349", "url": "https://glygen.org/publication/PubMed/33479349" } ] }, { "annotation": "Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:24828632, PubMed:20826464). Necessary for O-acetylation of gangliosides (PubMed:9096318).", "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400#function" }, { "database": "PubMed", "id": "25402622", "url": "https://glygen.org/publication/PubMed/25402622" }, { "database": "PubMed", "id": "9096318", "url": "https://glygen.org/publication/PubMed/9096318" }, { "database": "PubMed", "id": "20826464", "url": "https://glygen.org/publication/PubMed/20826464" }, { "database": "PubMed", "id": "24828632", "url": "https://glygen.org/publication/PubMed/24828632" } ] }, { "annotation": "Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1. Erratum:[Nat Cancer. 2020 Sep;1(9):935. PMID: 35121957]", "evidence": [ { "database": "RefSeq", "id": "NP_001177921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921" }, { "database": "PubMed", "id": "34414377", "url": "https://glygen.org/publication/PubMed/34414377" } ] }, { "annotation": "The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001177921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921" } ] } ], "disease": [ { "disease_id": "DOID:0110794", "recommended_name": { "id": "DOID:0110794", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110794", "name": "hereditary spastic paraplegia 42", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31." }, "synonyms": [ { "id": "DOID:0110794", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110794", "name": "SPG42", "description": "" }, { "id": "DOID:0110794", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110794", "name": "autosomal dominant spastic paraplegia 42", "description": "" }, { "id": "DOID:0110794", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110794", "name": "autosomal dominant spastic paraplegia type 42", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "hereditary spastic paraplegia 42", "description": "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "SLC33A1 autosomal dominant pure spastic paraplegia", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "SPG42", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "autosomal dominant spastic paraplegia 42", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "autosomal dominant spastic paraplegia type 42", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "hereditary spastic paraplegia type 42", "description": "" }, { "id": "MONDO:0012928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012928", "name": "spastic paraplegia 42, autosomal dominant", "description": "" }, { "id": "MIM:612539", "resource": "MIM", "url": "https://www.omim.org/entry/612539", "name": "Spastic paraplegia 42, autosomal dominant", "description": "Spastic paraplegia 42, autosomal dominant" } ], "evidence": [ { "id": "612539", "database": "MIM", "url": "https://www.omim.org/entry/612539" } ] }, { "disease_id": "MONDO:0013772", "recommended_name": { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "Huppke-Brendel syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "Huppke-Brendel syndrome", "description": "" }, { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "acetyl CoA transporter deficiency", "description": "" }, { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "congenital cataract-deafness-severe developmental delay syndrome", "description": "" }, { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "congenital cataracts, hearing loss, and neurodegeneration", "description": "" }, { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "lethal neurodegenerative disorder due to copper transport defect", "description": "" }, { "id": "MONDO:0013772", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013772", "name": "CCHLND", "description": "" }, { "id": "MIM:614482", "resource": "MIM", "url": "https://www.omim.org/entry/614482", "name": "Congenital cataracts, hearing loss, and neurodegeneration", "description": "Congenital cataracts, hearing loss, and neurodegeneration" } ], "evidence": [ { "id": "614482", "database": "MIM", "url": "https://www.omim.org/entry/614482" } ] } ], "snv": [ { "evidence": [ { "id": "rs1217540104", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217540104" }, { "id": "rs1217540104", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217540104" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVG).", "chr_id": "3", "chr_pos": "155853685", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745849692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745849692" }, { "id": "rs745849692", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745849692#frequency_tab" }, { "id": "rs745849692", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745849692" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 486, "end_pos": 486, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "3", "chr_pos": "155829713", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179488042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179488042" }, { "id": "rs1179488042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179488042" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 56, "end_pos": 56, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGT->NGT).", "chr_id": "3", "chr_pos": "155853831", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T56", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973464350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973464350" }, { "id": "rs973464350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973464350" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 9, "end_pos": 9, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "3", "chr_pos": "155853973", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D9", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00400", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00400" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00400", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00400" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "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": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC33A1", "url": "https://www.uniprot.org/uniprot/O00400", "locus": { "chromosome": "3", "start_pos": 155821024, "end_pos": 155854456, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000169359", "url": "https://www.ensembl.org/id/ENSG00000169359" } ] } } ], "crossref": [ { "id": "ENSG00000169359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169359", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL3638338", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3638338", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SLC33A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC33A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9197", "url": "https://www.ncbi.nlm.nih.gov/gene/9197", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "95", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=95", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00400", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00400*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004752", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004752", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024371", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024371", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036259", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9197", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9197", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603690", "url": "http://www.omim.org/entry/603690", "database": "MIM", "categories": [ "Other" ] }, { "id": "612539", "url": "http://www.omim.org/entry/612539", "database": "MIM", "categories": [ "Other" ] }, { "id": "614482", "url": "http://www.omim.org/entry/614482", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00400", "url": "https://www.nextprot.org/entry/NX_O00400", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "RRKSWIM", "url": "https://omabrowser.org/oma/group/RRKSWIM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "200202at2759", "url": "http://www.orthodb.org/?query=200202at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12778", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12778", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12778:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12778:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13000", "url": "http://pfam.xfam.org/family/PF13000", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00400", "url": "https://pharos.nih.gov/targets/O00400", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00400", "url": "http://purl.obolibrary.org/obo/PR_O00400", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-425397", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425397", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619061", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619061", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001177921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177921", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "75039", "url": "https://www.rhea-db.org/rhea/75039", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8Y359", "url": "https://www.uniprot.org/uniprot/A0A2R8Y359", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y359-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y359-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5I5", "url": "https://www.uniprot.org/uniprot/A0A2R8Y5I5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y5I5-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y5I5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEX5", "url": "https://www.uniprot.org/uniprot/A0A2R8YEX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEX5-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YEX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YF57", "url": "https://www.uniprot.org/uniprot/A0A2R8YF57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YF57-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YF57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C532", "url": "https://www.uniprot.org/uniprot/H7C532", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C532-1", "url": "https://www.uniprot.org/uniprot/H7C532-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C562", "url": "https://www.uniprot.org/uniprot/H7C562", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C562-1", "url": "https://www.uniprot.org/uniprot/H7C562-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C577", "url": "https://www.uniprot.org/uniprot/H7C577", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C577-1", "url": "https://www.uniprot.org/uniprot/H7C577-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00400-1", "url": "https://www.uniprot.org/uniprot/O00400-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN", "length": 549, "header": "sp|O00400-1|ACATN_HUMAN Isoform 1 of Acetyl-coenzyme A transporter 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y359-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSGSVFKLLWC", "length": 267, "header": "tr|A0A2R8Y359-1|A0A2R8Y359_HUMAN Computationally mapped isoform of Solute carrier family 33 member 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=4 SV=1 CANONICAL=O00400-1" }, "locus": {} }, { "isoform_ac": "A0A2R8Y5I5-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIIAWVRICPTGLVDS", "length": 336, "header": "tr|A0A2R8Y5I5-1|ACATN_HUMAN Computationally mapped isoform of Acetyl-coenzyme A transporter 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853997, "end_pos": 155833541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644094.1", "url": "https://www.ensembl.org/id/ENST00000644094.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494476.1", "url": "https://www.ensembl.org/id/ENSP00000494476.1" } ] } }, { "isoform_ac": "A0A2R8YEX5-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSGLVKQLF", "length": 265, "header": "tr|A0A2R8YEX5-1|A0A2R8YEX5_HUMAN Computationally mapped isoform of Solute carrier family 33 member 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=4 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853997, "end_pos": 155845057, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642438.1", "url": "https://www.ensembl.org/id/ENST00000642438.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495971.1", "url": "https://www.ensembl.org/id/ENSP00000495971.1" } ] } }, { "isoform_ac": "A0A2R8YF57-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDWFFSSRCCNRTEIGRRGSTQRTFSLIGSSNGSFADNTASDYQQIHCRSPAIKHILQSHALQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN", "length": 447, "header": "tr|A0A2R8YF57-1|A0A2R8YF57_HUMAN Computationally mapped isoform of Solute carrier family 33 member 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853997, "end_pos": 155828213, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646424.1", "url": "https://www.ensembl.org/id/ENST00000646424.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494846.1", "url": "https://www.ensembl.org/id/ENSP00000494846.1" } ] } }, { "isoform_ac": "H7C532-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDWFFSSRCCNRTEIGRRGSTQRTFSLIGSSNGSFADNTASDYQQIHCRSPAIKHILQSHALQIIAWVRICPTGLVDS", "length": 335, "header": "tr|H7C532-1|H7C532_HUMAN Computationally mapped isoform of Solute carrier family 33 member 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=4 SV=2 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853997, "end_pos": 155833541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468581.2", "url": "https://www.ensembl.org/id/ENST00000468581.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000418847.2", "url": "https://www.ensembl.org/id/ENSP00000418847.2" } ] } }, { "isoform_ac": "H7C562-1", "url": "", "sequence": { "sequence": "XDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN", "length": 269, "header": "tr|H7C562-1|ACATN_HUMAN Computationally mapped isoform of Acetyl-coenzyme A transporter 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853491, "end_pos": 155828211, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475842.5", "url": "https://www.ensembl.org/id/ENST00000475842.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419066.1", "url": "https://www.ensembl.org/id/ENSP00000419066.1" } ] } }, { "isoform_ac": "H7C577-1", "url": "", "sequence": { "sequence": "WGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN", "length": 185, "header": "tr|H7C577-1|H7C577_HUMAN Computationally mapped isoform of Solute carrier family 33 member 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155842605, "end_pos": 155828213, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000496772.1", "url": "https://www.ensembl.org/id/ENST00000496772.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419165.1", "url": "https://www.ensembl.org/id/ENSP00000419165.1" } ] } }, { "isoform_ac": "O00400-1", "url": "", "sequence": { "sequence": "MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKLLFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGSSSWKCKRNN", "length": 549, "header": "sp|O00400-1|ACATN_HUMAN Isoform 1 of Acetyl-coenzyme A transporter 1 OS=Homo sapiens OX=9606 GN=SLC33A1 PE=1 SV=1 CANONICAL=O00400-1" }, "locus": { "chromosome": "3", "start_pos": 155853997, "end_pos": 155828213, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643144.2", "url": "https://www.ensembl.org/id/ENST00000643144.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496241.1", "url": "https://www.ensembl.org/id/ENSP00000496241.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "O00400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00400#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00400" } ], "site_lbl": "Ser22" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00400", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00400" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser2" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400" } ], "site_lbl": "Ser42" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Human placental Na+-dependent multivitamin transporter. 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"date": "2014", "authors": "Peng Y, Li M, Clarkson BD, Pehar M, Lao PJ, Hillmer AT, Barnhart TE, Christian BT, Mitchell HA, Bendlin BB, Sandor M, Puglielli L", "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400" } ], "reference": [ { "type": "PubMed", "id": "24828632", "url": "https://glygen.org/publication/PubMed/24828632" } ] }, { "title": "Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.", "journal": "Human mutation", "date": "2015", "authors": "Mao F, Li Z, Zhao B, Lin P, Liu P, Zhai M, Liu Q, Shao C, Sun W, Gong Y", "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprot/O00400" } ], "reference": [ { "type": "PubMed", "id": "25402622", "url": "https://glygen.org/publication/PubMed/25402622" } ] }, { "title": "Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway.", "journal": 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